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Sample records for congenital diseases

  1. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  2. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  3. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  4. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  5. Dermatoglyphic's in Congenital Cardiac Disease.

    PubMed

    Brijendra, Singh; Renu, Gupta; Dushyant, Agrawal; Rajneesh, Garg; Sunil, Katri

    2016-02-01

    Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD), 60 cases of Atrial Septal Defects (ASD), 9 cases of Coarctation of Aorta (COA) & 9 cases of Tetralogy of Fallot's (TOF). Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8%) with decrease in loop pattern (36.2%) as compared to those of controls and the difference was highly significant (P<0.001). The difference in the mean total finger ridge count (TFRC) of the controls and of the cases of Congenital Cardiac Diseases (CCD) was found to be highly significant (P<0.001), while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD) was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  6. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  7. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  8. Critical congenital heart disease screening.

    PubMed

    Chamsi-Pasha, Mohammed A; Chamsi-Pasha, Hassan

    2016-01-01

    Critical congenital heart disease (CCHD) is a heart lesion for which neonates require early surgical intervention to survive. Without intervention, the rates of mortality and survival with significant disability are extremely high. Early diagnosis can potentially improve health outcomes in newborns with CCHD. Until recent years, no routine screening protocol existed. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. A positive screening test result warrants an echocardiogram to evaluate for CCHD. Newborn screens do not usually require parental consent. However, most of the states mandates in the United States include a statement allowing exemption from the screen on the basis of parental religious or personal beliefs. PMID:27390667

  9. Cardiac Arrhythmias In Congenital Heart Diseases

    PubMed Central

    Khairy, Paul; Balaji, Seshadri

    2009-01-01

    Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy. PMID:19898654

  10. Pregnancy and adult congenital heart disease.

    PubMed

    Karamermer, Yusuf; Roos-Hesselink, Jolien W

    2007-09-01

    Increasing numbers of women with complex congenital heart disease are reaching childbearing age. Pregnancy is a major issue in the management of adult congenital heart disease. Cardiac disease is one of the most common causes of maternal morbidity and mortality. Complications, such as growth retardation, preterm and premature birth and even fetal and neonatal mortality, are more frequent among children of women with congenital heart disease. The risk of complications is determined by the severity of the cardiac lesion, the presence of cyanosis, the maternal functional class and the use of anticoagulation. However, the pathophysiology of these complications is not completely understood and may be related to a diminished increase in cardiac output and/or endothelial dysfunction. The management of pregnant cardiac patients is based on limited clinical information. This article reviews pre-pregnancy counseling and management during pregnancy in patients with congenital heart disease.

  11. Interventional treatment of congenital heart disease patients.

    PubMed

    Marini, D; Agnoletti, G

    2010-02-01

    During the last 10 years the interventional treatment of congenital and structural heart diseases has known enormous changes in techniques, methods and patients management. Lesions previously treated surgically are now approached in the catheterization laboratory. The advent of multidisciplinary approach of congenital heart disease has made possible the development of hybrid techniques, of fetal medicine and of magnetic resonance imaging (MRI)- guided cardiac catheterization. Technological innovation has introduced new concepts in treatment of congenital heart disease patients and has allowed to adapt different techniques to single patients. The knowledge of the evolution of structural heart disease has allowed to chose the best percutaneous and/ or surgical technique and the best materials to optimize long term results. Improvement in non invasive imaging modality has allowed to diminish the radiation exposure and to provide useful information to interventional cardiologists and cardiac surgeons. Absorbable, drug eluting tools will change the treatment and probably the natural history of congenital and structural cardiac and vascular diseases.

  12. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  13. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  14. Functional Assessment for Congenital Heart Disease

    PubMed Central

    2014-01-01

    Significant improvement in survival of children with congenital cardiac malformations has resulted in an increasing population of adolescent and adult patients with congenital heart disease. Of the long-term cardiac problems, ventricular dysfunction remains an important issue of concern. Despite corrective or palliative repair of congenital heart lesions, the right ventricle, which may be the subpulmonary or systemic ventricular chamber, and the functional single ventricle are particularly vulnerable to functional impairment. Regular assessment of cardiac function constitutes an important aspect in the long-term follow up of patients with congenital heart disease. Echocardiography remains the most useful imaging modality for longitudinal monitoring of cardiac function. Conventional echocardiographic assessment has focused primarily on quantification of changes in ventricular size and blood flow velocities during the cardiac cycles. Advances in echocardiographic technologies including tissue Doppler imaging and speckle tracking echocardiography have enabled direct interrogation of myocardial deformation. In this review, the issues of ventricular dysfunction in congenital heart disease, conventional echocardiographic and novel myocardial deformation imaging techniques, and clinical applications of these techniques in the functional assessment of congenital heart disease are discussed. PMID:24653734

  15. Congenital Chagas disease: an update

    PubMed Central

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-01-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi. PMID:25760448

  16. [Evaluation of congenital heart disease in adults].

    PubMed

    Oliver Ruiz, José María; Mateos García, Marta; Bret Zurita, Montserrat

    2003-06-01

    Improvements in the diagnosis and surgical treatment of congenital heart disease during infancy and childhood have resulted in an outstanding increase in the prevalence of these entities during adulthood. Congenital heart disease in the adult represents a new diagnostic challenge to the consultant cardiologist, unfamiliar with the anatomical and functional complexities of cardiac malformations. Assessment of adult congenital heart disease with imaging techniques can be as accurate as in children. However, these techniques cannot substitute for a detailed clinical assessment. Physical examination, electrocardiography and chest x-rays remain the three main pillars of bedside diagnosis. Transthoracic echocardiography is undoubtedly the imaging technique which provides most information, and in many situations no additional studies are needed. Nevertheless, ultrasound imaging properties in adults are not as favorable as in children, and prior surgical procedures further impair image quality. Despite recent advances in ultrasound technologies such as harmonic or contrast imaging, other diagnostic procedures are sometimes required. Fortunately, transesophageal echocardiography and magnetic resonance imaging are easily performed in the adult, and do not require anaesthetic support, in contrast to pediatric patients. These techniques, together with nuclear cardiology and cardiac catheterization, complete the second tier of diagnostic techniques for congenital heart disease. To avoid unnecessary repetition of diagnostic procedures, the attending cardiologist should choose the sequence of diagnostic techniques carefully; although the information this yields is often redundant, it is also frequently complementary. This article aims to compare the diagnostic utility of different imaging techniques in adult patients with congenital heart disease, both with and without prior surgical repair.

  17. [Congenital heart disease, heterotaxia and laterality].

    PubMed

    Icardo, José Manuel; García Rincón, Juan Manuel; Ros, María Angeles

    2002-09-01

    Congenital heart disease occurs in about 0,8% of all newborns. Many cardiac malformations occur among relatives and have a polymorphic presentation. The origin of most congenital heart disease is thought to be multifactorial, implying both anomalous expression of genes and the influence of epigenetic factors. However, in a small number of cases, the origin of congenital heart disease has been directly related to chromosomal anomalies or to defects in a single gene. Curiously, defects in a single gene can explain a polymorphic presentation if the anomalous gene controls a basic embryonic process that affects different organs in time and space. Some of these genes appear to control the establishment of laterality. The establishment of the left-right asymmetry starts at the Hensen node. Here, the initial embryonic symmetry is broken by cascades of gene activation that confer specific properties on the left and right sides of the embryo. Although there are variations between species, some basic patterns of gene expression (Nodal, Pitx2) appear to be maintained along the phylogenetic scale. Anomalous expression of these genes induces the heterotaxia syndrome, which usually courses with congenital heart disease. The development of heart malformations is illustrated with the mouse mutant iv/iv, which is a model for the heterotaxia syndrome and the associated congenital heart disease.

  18. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. PMID:26413101

  19. Epidemiology of congenital heart disease in Brazil

    PubMed Central

    Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

    2015-01-01

    Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

  20. Marital stability and congenital heart disease.

    PubMed

    Silbert, A R; Newburger, J W; Fyler, D C

    1982-06-01

    The incidence of divorce or legal separation was studied in 438 families of children born with heart disease who entered the New England Regional Infant Cardiac Program between 1968 and 1973. The parents were interviewed when the children were 5 1/2 years old. The rate of divorce in 438 families of children with critical congenital heart disease was not significantly different from the rate in two comparison groups: (1) 25 families of children whose cardiac defect was spontaneously cured, and (2) 26 families of children catheterized in infancy for suspected cardiac defect but who were found to be free of heart disease. Rates of divorce or legal separation for the three groups were: critical congenital heart disease, 12.1%, spontaneously cured, 4.2% free of heart disease, 11.5% these rates were not significantly different. The average national divorce rate was 20.3% for the same period.

  1. [Congenital heart diseases in clinical practice].

    PubMed

    Ratti, Carlo; Veronesi, Benedetta; Grassi, Laura; Bompani, Bruno

    2012-05-01

    Congenital heart diseases are abnormalities in the heart's structure that are present at birth. Some are known to be associated with genetic disorders. They affect 8 out of every 1,000 newborns. They range from simple defects with no symptoms to complex defects. They are divided in two types: cyanotic and not cyanotic.

  2. Surgery for congenital diseases of the aorta.

    PubMed

    Cameron, Duke

    2015-02-01

    Congenital diseases of the aorta tend to be obstructive when they present early in life, and aneurysmal when they present later in life. The latter group also tends to be associated with connective tissue disorders and with repaired conotruncal lesions. The indications for intervention in the aneurysm group are still in evolution but are clearly age- and lesion-dependant. Disorders such as Loeys-Dietz syndrome and Turner syndrome may deserve aggressive prophylactic surgery, as well as Marfan syndrome to a lesser extent. The natural history of the dilated aorta after repair of congenital heart lesions is probably more benign than de novo aneurysms and therefore should be treated conservatively.

  3. Perinatal Management of Major Congenital Heart Disease

    PubMed Central

    McGovern, Eiméar; Sands, Andrew J

    2014-01-01

    Congenital heart disease (CHD) is the most common form of congenital anomaly. Prenatal diagnosis of CHD has been associated with decreased morbidity and mortality for some forms of major CHD. As most cases of major CHD are not identified prenatally, clinical examination of the newborn and pulse oximetry are also important means of identifying more cases. Clinicians must suspect CHD as a diagnosis in a cyanosed or shocked neonate and be familiar with appropriate management, namely the commencement of prostaglandin if a duct dependent cardiac lesion is suspected. Telemedicine can aid prompt diagnosis of CHD and therefore direct appropriate management. PMID:25484461

  4. Surgery for congenital diseases of the aorta.

    PubMed

    Cameron, Duke

    2015-02-01

    Congenital diseases of the aorta tend to be obstructive when they present early in life, and aneurysmal when they present later in life. The latter group also tends to be associated with connective tissue disorders and with repaired conotruncal lesions. The indications for intervention in the aneurysm group are still in evolution but are clearly age- and lesion-dependant. Disorders such as Loeys-Dietz syndrome and Turner syndrome may deserve aggressive prophylactic surgery, as well as Marfan syndrome to a lesser extent. The natural history of the dilated aorta after repair of congenital heart lesions is probably more benign than de novo aneurysms and therefore should be treated conservatively. PMID:25726075

  5. Newborn screening for congenital infectious diseases.

    PubMed

    Neto, Eurico Camargo; Rubin, Rosélia; Schulte, Jacqueline; Giugliani, Roberto

    2004-06-01

    To estimate the prevalence of congenital toxoplasmosis, Chagas disease, cytomegalovirus, and rubella, blood samples on dried blood spot (DBS) from neonates (day 3-20 of life) were screened for immunoglobulin (Ig) M against Toxoplasma gondii, cytomegalovirus, rubella virus, and IgG against Trypanosoma cruzi by methods used for serum and adapted for use with DBS. Positive samples were further analyzed for IgM and IgG in serum from neonates and mothers. DBS samples from 364,130 neonates were tested for Toxoplasma gondii-specific IgM, and 15,873 neonates were also tested for IgM against cytomegalovirus and rubella virus and for Trypanosoma cruzi-specific IgG. A total of 195 were diagnosed with congenital toxoplasmosis, 16 with cytomegalovirus, and 11 with congenital rubella. One newborn had a confirmed result for Chagas disease, and 21 mothers had positive serum antibodies. These results suggest that infectious diseases should be considered for future inclusion in programs for newborn screening of metabolic diseases in disease-endemic areas. PMID:15207059

  6. [Approach to congenital heart disease in adults].

    PubMed

    Alva Espinosa, Carlos

    2006-01-01

    After a few decades treating patients with congenital heart disease during childhood, we now face the problem of dealing with many of them as adults and few cases with disorders detected in adult life. The number of patients, with and without surgery is growing up rapidly. Conservatively speaking, there are in Mexico approximately 300 thousands patients with this condition, increasing by 15 thousands patients per year. In addition to the complexity of the congenital pathology, the knowledge of acquired diseases should be incorporated as well as the genetic advise, pregnancy care and specialized psychological support. The approach to these patients begins with stratification; diagnosis and treatment requiring a multidisciplinary, well informed and an capable to perform together medical team.

  7. Pregnancy and Adult Congenital Heart Disease.

    PubMed

    Bhatt, Ami B; DeFaria Yeh, Doreen

    2015-11-01

    Most women with known congenital heart disease can have successful pregnancy, labor, and delivery. Preconception assessment is essential in understanding anatomy, repairs, and current physiology, all of which can influence risk in pregnancy. With that foundation, a multidisciplinary cardio-obstetric team can predict and prepare for complications that may occur with superimposed hemodynamic changes of pregnancy. Individuals with Eisenmenger syndrome, pulmonary hypertension, cyanosis, significant left heart obstruction, ventricular dysfunction, or prior major cardiac event are among the highest risk for complications.

  8. Congenital cardiovascular disease in Turner syndrome.

    PubMed

    Bondy, Carolyn A

    2008-01-01

    Turner syndrome (TS), or monosomy X, occurs in approximately 1/2000 live born females. Intelligence is normal and short stature is the most obvious and consistent feature of the syndrome. Congenital cardiovascular disease affects approximately 50% of individuals and is the major cause of premature mortality in adults. Unfortunately, this most important aspect of the syndrome has received little attention outside of pediatric medicine, and adult cardiological follow-up is seriously lacking. This review describes the spectrum of cardiovascular defects with particular attention to identifying risk factors for aortic dissection/rupture. X-chromosome genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. Recent guidelines for diagnosis and treatment of girls and women with TS are reviewed.

  9. [Acquired and congenital heart diseases during pregancy].

    PubMed

    De Feo, Stefania; Iacovoni, Attilio; Faggiano, Pompilio

    2012-05-01

    Heart diseases are the leading cause of maternal morbidity and mortality. The number of patients with congenital heart diseases reaching childbearing age, as well as the proportion of women with acquired conditions, such as ischemic heart disease, becoming pregnant is constantly increasing. All women with known heart disease should have pre-pregnancy counseling, to assess maternal and fetal risk. Women at moderate or high risk should be under the care of a specialist prenatal team with experience in managing women with heart disease during pregnancy. Conditions that are considered at particularly high risk (mortality >10%) include Marfan syndrome with dilated aortic root, severe left ventricular dysfunction, severe left heart obstructive lesions, and pulmonary hypertension. Peripartum cardiomyopathy is a rare and potentially fatal disease related to pregnancy and the postnatal period that presents with symptoms of congestion and/or hypoperfusion and may rapidly progress to acute and life-threatening heart failure. However, the majority of women with heart disease can tolerate pregnancy; therefore an adequate multidisciplinary approach with the gynecologist, anesthesiologist and cardiologist should be advocated in order to reduce maternal and fetal risks associated with pregnancy.

  10. Pregnancy in women with congenital heart disease

    PubMed Central

    Sermer, Mathew; Silversides, Candice K

    2015-01-01

    Due to advances in paediatric congenital heart surgery, there are a growing number of women with congenital heart disease (CHD) reaching childbearing age. Pregnancy, however, is associated with haemodynamic stresses which can result in cardiac decompensation in women with CHD. Many women with CHD are aware of their cardiac condition prior to pregnancy, and preconception counselling is an important aspect of their care. Preconception counselling allows women to make informed pregnancy decisions, provides an opportunity for modifications of teratogenic medications and, when necessary, repair of cardiac lesions prior to pregnancy. Less commonly, the haemodynamic changes of pregnancy unmask a previously unrecognised heart lesion. In general, pregnancy outcomes are favourable for women with CHD, but there are some cardiac lesions that carry high risk for both the mother and the baby, and this group of women require care by an experienced multidisciplinary team. This review discusses preconception counselling including contraception, an approach to risk stratification and management recommendations in women with some common CHDs. PMID:27512454

  11. Defective sumoylation pathway directs congenital heart disease

    PubMed Central

    Wang, Jun; Chen, Li; Wen, Shu; Zhu, Huiping; Yu, Wei; Moskowitz, Ivan P.; Shaw, Gary M.; Finnell, Richard H.; Schwartz, Robert J

    2016-01-01

    Congenital heart defects (CHDs) are the most common of all birth defects, yet molecular mechanism(s) underlying highly prevalent atrial septal defects (ASDs) and ventricular septal defects (VSDs) have remained elusive. We demonstrate the indispensability of “balanced” post-translational SUMO conjugation-deconjugation pathway for normal cardiac development. Both hetero- and homo-zygous SUMO-1 knockout mice exhibited ASDs and VSDs with high mortality rates, which were rescued by cardiac re-expression of the SUMO-1 transgene. Since SUMO-1 was also involved in cleft lip/palate in human patients, the above findings provided a powerful rationale to question whether SUMO-1 was mutated in babies born with cleft palates and ASDs. Sequence analysis of DNA from newborn screening blood spots revealed a single 16 bp substitution in the SUMO-1 regulatory promoter of a patient displaying both oral-facial clefts and ASDs. Diminished sumoylation activity whether by genetics, environmental toxins and/or pharmaceuticals may significantly contribute to susceptibility to the induction of congenital heart disease worldwide. PMID:21563299

  12. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    PubMed

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described

  13. A neonate with critical congenital heart disease.

    PubMed

    Linder, Jarrett; Dawson, Emily; Williams, Paula

    2014-05-01

    Critical congenital heart disease (CCHD) is defined as a ductal-dependent congenital heart defect requiring surgical or percutaneous intervention via cardiac catheterization before 1 year of age. Most cases of CCHD can be diagnosed with prenatal ultrasound or fetal echocardiogram. If not prenatally diagnosed, CCHD can be stable in the newborn nursery due to persistent ductal patency, and the patient may only be diagnosed after ductal closure and development of cardiac symptoms at home. In this case, a 6-day-old female presented to the emergency department (ED) floppy with agonal respirations, poor capillary refill, and absent femoral pulses. On the day of presentation, the patient became increasingly fussy, refused feeding, and began to gasp. The patient was transported to the ED for evaluation, where a bedside echocardiogram revealed interrupted aortic arch (IAA), ventricular septal defect, minimal flow through a thread-like ductus arteriosus, and severely depressed cardiac function. IAA is very rare, with an incidence of three cases per 1 million live births. Patients require neonatal supportive care, continuous prostaglandin E1 infusion, and urgent referral for neonatal surgical repair in the first days to weeks of life. To reduce the volume of undiagnosed CCHD in the immediate newborn period, the U.S. Department of Health and Human Services Secretary's Advisory Committee on Heritable Diseases in Newborns and Children (SACHDNC) recommended that CCHD screening via pulse oximetry be added to the recommended uniform screening panel. A positive screen results in an immediate referral for an echocardiogram. Fetal diagnosis, newborn screening, and/or careful clinical examination may have resulted in detection of IAA in our patient prior to ductal closure. PMID:24877491

  14. Relationship between TBX20 gene polymorphism and congenital heart disease.

    PubMed

    Yang, X F; Zhang, Y F; Zhao, C F; Liu, M M; Si, J P; Fang, Y F; Xing, W W; Wang, F L

    2016-01-01

    Congenital heart disease in children is a type of birth defect. Previous studies have suggested that the transcription factor, TBX20, is involved in the occurrence and development of congenital heart disease in children; however, the specific regulatory mechanisms are yet to be evaluated. Hence, this study aimed to evaluate the relationship between the TBX20 polymorphism and the occurrence and development of congenital heart disease. The TBX20 gene sequence was obtained from the NCBI database and the polymorphic locus candidate was predicted. Thereafter, the specific gene primers were designed for the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) of DNA extracted from the blood of 80 patients with congenital heart disease and 80 controls. The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease. One of the single nucleotide polymorphic locus was found to be rs3999950: c.774T>C (Ala265Ala). The TC genotype frequency in the patients was higher than that in the controls, similar to that for the C locus. The odds ratio of the TC genotypes was above 1, indicating that the presence of the TC genotype increases the incidence of congenital heart diseases. Thus, rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect. PMID:27323105

  15. You are never too old for a congenital disease!

    PubMed Central

    Khanna, Mukul; Sarkisian, Saro; Tran, Phu; Ghobrial, Ibrahim I.

    2013-01-01

    Congenital diseases are sometimes overlooked by physicians because of their rarity or because of late onset of symptoms, which may delay treatment plans. This is illustrated in our patient who presented with dysphagia along with chest pain and who was found to have a congenital vascular anomaly, detected in her fifth decade of life. PMID:24392213

  16. Congenital heart disease in Mexico: advances of the regionalization project.

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge; Curi-Curi, Pedro; Ramírez-Marroquín, Samuel

    2013-04-01

    Consistent with the mission of the World Society for Pediatric and Congenital Heart Surgery to promote health care for children with congenital heart disease all around the world, a Mexican Association of Specialists in Congenital Heart Disease (abbreviated in Spanish as AMECC) was created in Mexico in 2008. Our efforts were coordinated with those of the National Health Secretary with the objective being implementation of a national plan for regionalization of care for patients with congenital heart disease. To improve our knowledge related to technologic and human resources for management of congenital heart disease, we developed a national survey. Finally, a national database was created for collecting all Mexican centers' information related to congenital heart disease care in order to quantify the advances related to the proposed plans. The database utilized international consensus nomenclature. The aim of this article is to show the sequence of our actions in relation to direct accomplishments and the current status of congenital heart disease care in Mexico. This article emphasizes the main aspects of these actions: regionalization project implementation, national survey results, and cardiovascular pediatric surgical database creation. Knowledge of outcomes related to successful actions would be useful for those countries that face similar challenges and may lead them to consider adoption of similar measures with the respective adjustments to their own reality.

  17. Clues in diagnosing congenital heart disease.

    PubMed Central

    Moss, A. J.

    1992-01-01

    A number of practical office and bedside clues to cardiac disease in infants and children have been passed on through the years. They relate to the history, to the inspection and palpation components of the physical examination, and to knowledge of the specific cardiac defects that are likely to be associated with certain clinical syndromes. With the possible exception of coarctation of the aorta, the clues are not diagnostically specific. In many instances, however, they serve to narrow a broad array of diagnostic possibilities to 2 or 3 and, with the aid of other clues and auscultation, they can often be distinguished from one another. When a primary care physician is confronted with a child who has an incidental murmur that is "probably" innocent but could be organic, useful clues favoring an organic murmur are a history of congenital heart disease in a first-degree relative; a history of maternal rubella syndrome, alcohol use, or teratogenic drug use during pregnancy; a history of inappropriate sweating; a history of syncope, chest pain, or squatting; maternal diabetes mellitus; premature birth; birth at a high altitude; cyanosis; abnormal pulsations; recurrent bronchiolitis or pneumonia; chronic unexplained hoarseness; asymmetric facies with crying; and a physical appearance suggestive of a clinical syndrome. PMID:1574882

  18. Arrhythmias in patients with congenital heart disease.

    PubMed

    Walsh, Edward P

    2002-12-01

    Improved surgical outcome for patients with congenital heart disease (CHD) has created a rapidly expanding population of adolescents and young adult survivors. Cardiac arrhythmias are a common late sequelae of this form of heart disease. Effective treatment requires clear understanding of the underlying anatomic defect as well as the specific surgical interventions. Intraatrial reentrant tachycardia (IART) is the most common and difficult arrhythmia encountered in these patients. Traditional IART treatment with medication has been largely unsuccessful, but radiofrequency ablation has emerged in recent years as a promising option for many patients. The availability of three-dimensional mapping systems and irrigated-tip ablation catheters has improved acute success rates for IART to better than 90%. Postablation recurrence of IART still remains problematic for patients who have undergone the Fontan operation, in which case atrial maze surgery may be considered. Ventricular tachycardia (VT) is seen in a smaller number of CHD patients, most notably those with tetralogy of Fallot or aortic stenosis. The adoption of implantable defibrillator (ICD) therapy for these patients has improved outcome. Owing to their complex anatomy, the CHD population presents unique challenges during both catheterization and device implant. Multicenter study of this unique patient group is needed in order to develop more objective treatment guidelines.

  19. Congenital heart disease in spondylothoracic dysostosis: two familial cases.

    PubMed Central

    Simpson, J M; Cook, A; Fagg, N L; MacLachlan, N A; Sharland, G K

    1995-01-01

    Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition. Images PMID:7473656

  20. MicroRNAs in congenital heart disease

    PubMed Central

    Smith, Tanya; Rajakaruna, Cha; Caputo, Massimo

    2015-01-01

    Congenital heart disease (CHD) is a broad term which encompasses a spectrum of pathology, the most common phenotypes include atrial septal defects (ASDs), ventricular septal defects (VSDs), patent ductus arteriosus (PAD) and tetralogy of Fallot (TOF). The impact of CHD is profound and it is estimated to be responsible for over 40% of prenatal deaths. MicroRNAs (miRs) are small, highly conserved, non-coding RNAs which have complex roles in a variety of pathophysiological states. miRs are post-transcriptional negative regulators of gene expression. Individual miRs are known to exert effects in multiple target genes, therefore the altered expression of a single miR could influence an entire gene network resulting in complex pathological states. Recent evidences suggest a role in the dysregulation of miRs in CHD. Mouse knock out models have contributed to our knowledge base revealing specific patterns of miR expression in cardiovascular physiology and pathological states. Specific miRs necessary for embryonic cardiac development have been revealed. Dysregulation of these miRs has been shown to cause structural abnormalities in the heart and vasculature, thus furthering our understanding of the processes which result in CHD. These advances have provided new insight into the signalling pathways responsible for CHD. Furthermore, this new appreciation for miRs in the development of CHD has uncovered their potential for new therapeutic targets where modulated miR activity may reduce the burden of disease. Here, we summarize current knowledge of the cause-effect relationships of miRs in CHD and consider their potential as a therapeutic targets and biomarkers in this clinical setting. PMID:26734643

  1. Aortic dilatation and aortopathy in congenital heart diseases.

    PubMed

    Zanjani, Keyhan Sayadpour; Niwa, Koichiro

    2013-01-01

    Longer survival after corrective surgery for congenital heart diseases has rendered late complications more important. One of these complications is aortic dilatation which may occur in patients with repaired or unrepaired disease and can progress to aneurysm, dissection, and rupture. This aortic dilatation in various congenital heart diseases does not simply mean anatomical dilatation of the aortic root, but it closely relates to the aortic pathophysiological abnormality, aortic regurgitation, and aortic and ventricular dysfunction; therefore, we can recognize this complex lesion as a new concept: "aortopathy". The pathophysiology of this disease is complex and only partially understood. In this review, we first discuss history, pathophysiology, and clinical features of aortic dilatation and aortopathy of congenital heart disease. Then we provide a review of the evaluation and management of this disease.

  2. Congenital heart disease and chromossomopathies detected by the karyotype

    PubMed Central

    Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.

    2014-01-01

    OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype. PMID:25119760

  3. Indications for heart transplantation in congenital heart disease.

    PubMed

    Siân Pincott, E; Burch, M

    2011-05-01

    In this review we have looked at indications for cardiac transplantation in congenital heart disease. An outline of the general principles of the use of transplant as a management strategy both as a first line treatment and following other surgical interventions is discussed. We explore the importance of the timing of patient referral and the evaluations undertaken, and how the results of these may vary between patients with congenital heart disease and patients with other causes of end-stage heart failure. The potential complications associated with patients with congenital heart disease need to be both anticipated and managed appropriately by an experienced team. Timing of transplantation in congenital heart disease is difficult to standardize as the group of patients is heterogeneous. We discuss the role and limitations of investigations such as BNP, 6 minute walk, metabolic exercise testing and self estimated physical functioning. We also discuss the suitability for listing. It is clear that congenital heart patients should not be considered to be at uniform high risk of death at transplant. Morbidity varies greatly in the congenital patient population with the failing Fontan circulation having a far higher risk than a failing Mustard circulation. However the underlying issue of imbalance between donor organ supply and demand needs to be addressed as transplant teams are finding themselves in the increasingly difficult situation of supporting growing numbers of patients with a diverse range of pathologies with declining numbers of donor organs.

  4. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  5. Xenopus: An Emerging Model for Studying Congenital Heart Disease

    PubMed Central

    Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

    2011-01-01

    Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

  6. Echocardiographic evaluation of coronary arteries in congenital heart disease.

    PubMed

    Freire, Grace; Miller, Michelle S

    2015-12-01

    Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

  7. [Advances in prenatal diagnosis of congenital heart diseases].

    PubMed

    Muner-Hernando, Marta; Gil-Mira, Mar; Zapardiel, Ignacio

    2013-06-01

    Congenital heart diseases are the most frequent abnormalities at the time of delivery. Their importance lays in the fact that they represent 46% of neonatal deaths and they are cause of a high morbidity rate. However, an early diagnosis is difficult. The aim of this revision is to give an update on the advances in the prenatal diagnosis of congenital heart diseases and their advantages compared to conventional sonography. The introduction of new technology in the detection of congenital heart diseases has improved the acquisition of better images in terms of resolution and quality. However, there is a lack of large studies to prove its benefits in non-selected population, although preliminary studies seem to give faithful results.

  8. Prophylactic arrhythmia surgery in association with congenital heart disease

    PubMed Central

    Deal, Barbara J.

    2016-01-01

    Certain congenital heart anomalies make patients more susceptible to arrhythmia development throughout their lives. This poses the question whether prophylactic arrhythmia surgery should be incorporated into reparative open heart procedures for congenital heart disease. There is currently no consensus on what constitutes a standard prophylactic procedure, owing to the questions that remain regarding lesions to be performed; energy sources to use; proximity of energy source or incisions to coronary arteries, sinoatrial node, atrioventricular node; circumstances for right atrial, left atrial, or biatrial appendectomy; and whether to perform a right, left, or biatrial maze procedure. These considerations are important because prophylactic arrhythmia procedures are performed without knowing if the patient will actually develop an arrhythmia in his or her lifetime. By reviewing and summarizing the literature, congenital heart disease patients who are at risk for developing atrial arrhythmias can be identified and lesion sets can be suggested in an effort to standardize experimental protocols for prophylactic arrhythmia surgery.

  9. Congenital Heart Disease and Impacts on Child Development

    PubMed Central

    Mari, Mariana Alievi; Cascudo, Marcelo Matos; Alchieri, João Carlos

    2016-01-01

    Objective: To evaluate the child development and evaluate a possible association with the commitment by biopsychosocial factors of children with and without congenital heart disease. Methods: Observational study of case-control with three groups: Group 1 - children with congenital heart disease without surgical correction; Group 2 - children with congenital heart disease who underwent surgery; and Group 3 - healthy children. Children were assessed by socio-demographic and clinical questionnaire and the Denver II Screening Test. Results: One hundred and twenty eight children were evaluated, 29 in Group 1, 43 in Group 2 and 56 in Group 3. Of the total, 51.56% are girls and ages ranged from two months to six years (median 24.5 months). Regarding the Denver II, the children with heart disease had more "suspicious" and "suspect/abnormal" ratings and in the group of healthy children 53.6% were considered with "normal" development (P≤0.0001). The biopsychosocial variables that were related to a possible developmental delay were gender (P=0.042), child's age (P=0.001) and income per capita (P=0.019). Conclusion: The results suggest that children with congenital heart disease are likely to have a developmental delay with significant difference between children who have undergone surgery and those awaiting surgery under clinical follow-up. PMID:27074272

  10. Nomenclature and classification of congenital heart disease.

    PubMed Central

    Tynan, M J; Becker, A E; Macartney, F J; Jiménez, M Q; Shinebourne, E A; Anderson, R H

    1979-01-01

    At present there is no universally accepted nomenclature for congenital cardiac malformations. Much of the controversy results from failure to distinguish the structural connections of the heart from the morphology and spatial relations of its components. The confusion is compounded by an abundance of individual definitions, many of them speculative. The present article proposes a totally descriptive nomenclature. It describes in turn the connections of the cardiac segments, their morphology, their relations, and additional anomalies in any segment. Each step in the segmental approach is discrete. The overall effect is to force a succinct and comprehensive description of any cardiac malformation, no matter how complex. Images PMID:465224

  11. Coping Behaviors of Parents with Children with Congenital Heart Disease.

    ERIC Educational Resources Information Center

    Strobino, Jane

    The study addresses parental coping patterns of children with congenital heart disease in the state of Hawaii. Attention was given to geography and ethnicity as well as parental and child characteristics as factors impacting on the coping pattern. Telephone interviews with parents (N=32) obtained data concerning parent characteristics, their…

  12. Advances in Surgical Treatment of Congenital Airway Disease.

    PubMed

    Ragalie, William S; Mitchell, Michael E

    2016-01-01

    Tracheobronchomalacia (TBM) is frequently present in infants and children with congenital heart disease (CHD). Infants with CHD and TBM appear to do worse than those without TBM. The principle of operative intervention for TBM is to improve function of the airway and clinical status. When indicated, conventional surgical options include tracheostomy, aortopexy, tracheoplasty, and anterior tracheal suspension. There is no consensus on the optimal treatment of severe tracheobonchomalacia, which can be associated with a mortality rate as high as 80%. Congenital tracheal stenosis is also frequently associated with CHD (vascular rings, atrioventricular canal defects, and septal defects) and may require concomitant repair. Repair of tracheal stenosis is often associated with distal TBM. This article addresses new techniques that can be performed in corrective surgery for both TBM and congenital tracheal stenosis. PMID:27568138

  13. Advances in the Care of Adults With Congenital Heart Disease.

    PubMed

    Nasr, Viviane G; Kussman, Barry D

    2015-09-01

    The significant decline in mortality among children and adolescents with congenital heart disease (CHD) is associated with an increasing prevalence of CHD in adults, particularly those with moderate to severe defects. As a significant percentage of adolescents and young adults are lost to follow-up in the transition from pediatric to adult care, they may present for elective procedures with substantial CHD-associated morbidity. In addition to the specific cardiac defect, the procedures performed, and the current pathophysiological status, several factors should be considered when managing the adult with CHD. These include the type of setting (adult vs pediatric institution); surgeon (pediatric vs adult cardiac surgeon); coexisting diseases associated with CHD, such as coronary artery disease, hepatic dysfunction, renal dysfunction, cerebrovascular accidents, myopathy, and coagulation disorders; acquired diseases of aging; pregnancy; and psychosocial functioning. The current status of the management of common and important congenital cardiac defects is also described. PMID:25542866

  14. Metabolic Profiling of Children Undergoing Surgery for Congenital Heart Disease

    PubMed Central

    Correia, Goncalo D. S.; Wooi Ng, Keng; Wijeyesekera, Anisha; Gala-Peralta, Sandra; Williams, Rachel; MacCarthy-Morrogh, S.; Jiménez, Beatriz; Inwald, David; Macrae, Duncan; Frost, Gary; Holmes, Elaine

    2015-01-01

    Objective: Inflammation and metabolism are closely interlinked. Both undergo significant dysregulation following surgery for congenital heart disease, contributing to organ failure and morbidity. In this study, we combined cytokine and metabolic profiling to examine the effect of postoperative tight glycemic control compared with conventional blood glucose management on metabolic and inflammatory outcomes in children undergoing congenital heart surgery. The aim was to evaluate changes in key metabolites following congenital heart surgery and to examine the potential of metabolic profiling for stratifying patients in terms of expected clinical outcomes. Design: Laboratory and clinical study. Setting: University Hospital and Laboratory. Patients: Of 28 children undergoing surgery for congenital heart disease, 15 underwent tight glycemic control postoperatively and 13 were treated conventionally. Interventions: Metabolic profiling of blood plasma was undertaken using proton nuclear magnetic resonance spectroscopy. A panel of metabolites was measured using a curve-fitting algorithm. Inflammatory cytokines were measured by enzyme-linked immunosorbent assay. The data were assessed with respect to clinical markers of disease severity (Risk Adjusted Congenital heart surgery score-1, Pediatric Logistic Organ Dysfunction, inotrope score, duration of ventilation and pediatric ICU-free days). Measurements and Main Results: Changes in metabolic and inflammatory profiles were seen over the time course from surgery to recovery, compared with the preoperative state. Tight glycemic control did not significantly alter the response profile. We identified eight metabolites (3-d-hydroxybutyrate, acetone, acetoacetate, citrate, lactate, creatine, creatinine, and alanine) associated with surgical and disease severity. The strength of proinflammatory response, particularly interleukin-8 and interleukin-6 concentrations, inversely correlated with PICU-free days at 28 days. The interleukin

  15. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

    PubMed

    Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S; Samocha, Kaitlin E; Karczewski, Konrad J; DePalma, Steven R; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A; Kim, Richard; Bilguvar, Kaya; López-Giráldez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E; Russell, Mark W; Mital, Seema; Newburger, Jane W; Gaynor, J William; Breitbart, Roger E; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J; Kaltman, Jonathan R; Seidman, Jonathan G; Brueckner, Martina; Gelb, Bruce D; Goldmuntz, Elizabeth; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K

    2015-12-01

    Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, a regulator of mRNA splicing. Genes mutated in other cohorts examined for NDD were enriched in CHD cases, particularly those with coexisting NDD. These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.

  16. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    PubMed

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy.

  17. [Pediatric cardiology and congenital heart disease: from fetus to adult].

    PubMed

    Subirana, M Teresa; Oliver, José M; Sáez, José M; Zunzunegui, José L

    2012-01-01

    This article contains a review of some of the most important publications on congenital heart disease and pediatric cardiology that appeared in 2010 and up until September 2011. Of particular interest were studies on demographic changes reported in this patient population and on the need to manage the patients' transition from the pediatric to the adult cardiology department. This transition has given rise to the appearance of new areas of interest: for example, pregnancy in women with congenital heart disease, and the effect of genetic factors on the etiology and transmission of particular anomalies. In addition, this review considers some publications on fetal cardiology from the perspective of early diagnosis and, if possible, treatment. There follows a discussion on new contributions to Eisenmenger's syndrome and arrhythmias, as well as on imaging techniques, interventional catheterization and heart transplantation. Finally, there is an overview of the new version of clinical practice guidelines on the management of adult patients with congenital heart disease and of recently published guidelines on pregnancy in women with heart disease, both produced by the European Society of Cardiology.

  18. Prevalence of Dyslipidemia in Children with Congenital Heart Disease

    PubMed Central

    Fuenmayor, Gabriela; Redondo, Ana Carolina Costa; Shiraishi, Karen Saori; Souza, Rogerio; Elias, Patrícia Figueiredo; Jatene, Ieda Biscegli

    2013-01-01

    Dyslipidemia is one of the main risk factors associated with cardiovascular diseases. Few data on the impacts of congenital heart diseases are available with regard to the prevalence of dyslipidemia in children. Our study evaluated the lipid profile in children with congenital heart disease at a referral center. From January 2011 to July 2012, 52 pediatric patients had their lipid, metabolic and clinical profiles traced. The mean age was 10.4 ± 2.8 years and male/female rate of 1.38:1. Our population had 53.8% patients with high levels of total cholesterol and 13.4% (CI 95 %, from 6.6 to 25.2%) of them also presenting LDL levels ≥ 130 mg/dL, which characterizes dyslipidemia. The group of dyslipidemic patients presented only two obese individuals. Our data show that the presence of congenital heart disease does not lead to higher risk associated with the prevalence of dyslipidemia. Therefore, the screening of this specific population should follow the regular pediatric guidelines, which are also independent of the nutritional status of the children tested. PMID:24061754

  19. [MRI and CT in the evaluation of congenital heart diseases].

    PubMed

    Secchi, F; Giardino, A; Nardella, V G; Sardanelli, F

    2010-01-01

    Magnetic resonance imaging (MRI) allows a static and cinetic study of congenital heart diseases avoiding patient exposure to ionizing radiation. It allows for evaluating cardiac morphology, heart function with accurate ventricular volume estimation, flow quantification with gradient and regurgitant fraction estimation, and vascular anatomy (aortic, pulmonary and proximal coronary vessels). Computed tomography (CT), with greater spatial resolution, allows for evaluating proximal and distal coronary arteries, vascular and pericardial calcifications, metal structures such as stents and prosthetic valves. The use of MRI or CT in young and adult patients with congenital heart diseases should be assessed case by case through a close collaboration between cardiologists and radiologists, aiming at an optimal tradeoff between expected diagnostic gain and biological cost in terms of ionizing radiation exposure and contrast material administration.

  20. Histone methylations in heart development, congenital and adult heart diseases.

    PubMed

    Zhang, Qing-Jun; Liu, Zhi-Ping

    2015-01-01

    Heart development comprises myocyte specification, differentiation and cardiac morphogenesis. These processes are regulated by a group of core cardiac transcription factors in a coordinated temporal and spatial manner. Histone methylation is an emerging epigenetic mechanism for regulating gene transcription. Interplay among cardiac transcription factors and histone lysine modifiers plays important role in heart development. Aberrant expression and mutation of the histone lysine modifiers during development and in adult life can cause either embryonic lethality or congenital heart diseases, and influences the response of adult hearts to pathological stresses. In this review, we describe current body of literature on the role of several common histone methylations and their modifying enzymes in heart development, congenital and adult heart diseases.

  1. Histone methylations in heart development, congenital and adult heart diseases

    PubMed Central

    Zhang, Qing-Jun; Liu, Zhi-Ping

    2015-01-01

    Heart development comprises myocyte specification, differentiation and cardiac morphogenesis. These processes are regulated by a group of core cardiac transcription factors in a coordinated temporal and spatial manner. Histone methylation is an emerging epigenetic mechanism for regulating gene transcription. Interplay among cardiac transcription factors and histone lysine modifiers plays important role in heart development. Aberrant expression and mutation of the histone lysine modifiers during development and in adult life can cause either embryonic lethality or congenital heart diseases, and influences the response of adult hearts to pathological stresses. In this review, we describe current body of literature on the role of several common histone methylations and their modifying enzymes in heart development, congenital and adult heart diseases. PMID:25942538

  2. Hypertension, obesity, and coronary artery disease in the survivors of congenital heart disease.

    PubMed

    Roche, S Lucy; Silversides, Candice K

    2013-07-01

    Obesity, hypertension, and coronary artery disease are prevalent in the general population and well recognized as contributors to cardiac morbidity and mortality. With surgical and medical advances, there is a growing and aging population with congenital heart disease who are also at risk of developing these comorbidities. In addition, some congenital cardiac lesions predispose patients to conditions such as hypertension or coronary artery disease. The effect of these comorbidities on the structurally abnormal heart is not well understood, but might be very important, especially in those with residual abnormalities. Thus, in addition to surveillance for and treatment of late complications it is important for the congenital cardiologist to consider and aggressively manage acquired comorbidities. In this review we explore the prevalence of hypertension, obesity, and coronary artery disease, discuss congenital lesions that predispose to these conditions and review management strategies for this unique population.

  3. Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease.

    PubMed

    Ho, J J

    2001-06-01

    An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate.

  4. Chemical quality of maternal drinking water and congenital heart disease.

    PubMed

    Zierler, S; Theodore, M; Cohen, A; Rothman, K J

    1988-09-01

    We undertook a case-control study to investigate the association between chemicals in maternal drinking water consumed during pregnancy and congenital heart disease in the offspring. Two hundred and seventy affected children and 665 healthy children were enrolled in the study. Information on contaminant levels in maternal drinking water was available from records of routine water analysis of samples taken from public taps in the communities where the mothers resided during pregnancy. Mothers provided information during a telephone interview on their health, pregnancy management, and demographic characteristics. Nine inorganic metals were analysed for detection of an association with congenital heart disease. The chemical exposures of particular interest were arsenic, lead, mercury and selenium. None of the chemicals was associated materially with an increase in the frequency of congenital heart disease overall. Arsenic exposure at any detectable level was associated with a threefold increase in occurrence of coarctation of the aorta (prevalence odds ratio = 3.4, 95% confidence interval = 1.3-8.9). Detectable traces of selenium in drinking water were associated with a lower frequency of any congenital heart disease than was observed among children exposed to drinking water not containing detectable levels of selenium (prevalence odds ratio = 0.62, 95% confidence limits = 0.40-0.97). A dose-response effect was observed over four levels of selenium exposure. Non-differential errors in the measurement and classification of exposure to contaminants routinely monitored in drinking water could account for lack of positive findings. In addition, most of the contaminant levels were below the maximum levels set by the Environmental Protection Agency, so that lack of evidence of effect may have been due to the low exposure levels in this population.

  5. Tachyarrhythmia in patients with congenital heart disease: inevitable destiny?

    PubMed

    Teuwen, C P; Taverne, Y J H J; Houck, C; Götte, M; Brundel, B J J M; Evertz, R; Witsenburg, M; Roos-Hesselink, J W; Bogers, A J J C; de Groot, N M S

    2016-03-01

    The prevalence of patients with congenital heart disease (CHD) has increased over the last century. As a result, the number of CHD patients presenting with late, postoperative tachyarrhythmias has increased as well. The aim of this review is to discuss the present knowledge on the mechanisms underlying both atrial and ventricular tachyarrhythmia in patients with CHD and the advantages and disadvantages of the currently available invasive treatment modalities.

  6. Heart failure in congenital heart disease: a confluence of acquired and congenital.

    PubMed

    Fahed, Akl C; Roberts, Amy E; Mital, Seema; Lakdawala, Neal K

    2014-01-01

    Heart failure (HF) is a common cause of morbidity and mortality in congenital heart disease (CHD), with increasing prevalence because of improved treatment options and outcomes. Genetic factors and acquired postnatal factors in CHD might play a major role in the progression to HF. This article proposes 3 routes that lead to HF in CHD: rare monogenic entities that cause both CHD and HF; severe CHD lesions in which acquired hemodynamic effects of CHD or surgery result in HF; and, most commonly, a combined effect of complex genetics in overlapping pathways and acquired stressors caused by the primary lesion.

  7. Fetal echocardiographic screening of diabetic pregnancies for congenital heart disease.

    PubMed

    Gladman, G; McCrindle, B W; Boutin, C; Smallhorn, J F

    1997-02-01

    This study sought to assess pregnant diabetic women for the presence of fetal cardiac anomalies and to determine whether better diabetic control was associated with a reduced risk to the fetus. Between 1988 and 1995, pregnant type I and II diabetic women routinely underwent fetal echocardiography. Hemoglobin A1c values were used as an indicator of maternal diabetic control and any relation between congenital heart disease in the fetus and maternal hemoglobin A1c levels was sought. Cardiac defects were identified in 7 of 328 pregnancies assessed, for an incidence of congenital heart disease of 2.1% (95% confidence interval: 0.6-3.6%). A review of the postnatal cardiac database did not reveal any undetected major malformations. The mean hemoglobin A1c level was 7.6% +/- 2.0% obtained at a mean gestational age of 12 +/- 7 weeks. Hemoglobin A1c levels of mothers carrying a fetus with congenital heart disease did not significantly differ from those with a normal fetus: 8.1% +/- 3.4% versus 7.6% +/- 1.9% (p = 0.48). Mothers with an affected fetus demonstrated a wide range of HbA1c levels (4.1 to 13.7%). Thus, the incidence of significant fetal cardiac abnormalities is low and not significantly related to maternal diabetic control. PMID:9259899

  8. Postoperative nosocomial infections among children with congenital heart disease

    PubMed Central

    Zhang, Jian; Yuan, Yan; Li, Peiling; Wang, Tuanjie; Gao, Jun; Yao, Jinhua; Li, Shujun

    2014-01-01

    Objective: To study the pathogen distribution, antimicrobial susceptibility and risk factors of postoperative nosocomial infections among children with congenital heart disease. Methods: Three hundreds children with congenital heart disease admitted to our hospital to receive surgeries from February 2010 to February 2013 were selected. Results: A total of 120 children were tested as positive by sputum culture, with the infection rate of 40.0%. The top five most common pathogenic microorganisms included Staphylococcus epidermidis, Staphylococcus aureus, Enterococcus, Pseudomonas aeruginosa, and Candida albicans. S. epidermidis, S. aureus and Enterococcus were highly resistant to penicillin, azithromycin and erythromycin, moderately susceptible to levofloxacin and cefazolin, and completely susceptible to vancomycin. Multivariate Logistic regression analysis showed that hospitalization stay length, combined use of antibiotics, systemic use of hormones, mechanical ventilation and catheter indwelling were the independent risk factors of postoperative nosocomial infections (P<0.05). Conclusion: Nosocomial infection, which was the most frequent postoperative complication of pediatric congenital heart disease, was predominantly induced by Gram-positive bacteria that were highly susceptible to cephalosporins and vancomycin. Particular attention should be paid to decrease relevant risk factors to improve the prognosis. PMID:24948978

  9. A review of the economics of adult congenital heart disease.

    PubMed

    Seckeler, Michael D; Thomas, Ian D; Andrews, Jennifer; Joiner, Keith; Klewer, Scott E

    2016-01-01

    Adults living with congenital heart disease (CHD) now outnumber children with the disease. Thanks to medical advances over the past 75 years, many of these fatal childhood heart problems have changed to chronic medical conditions. As the population of adults with CHD increases, they will require increasingly complex medical, surgical and catheter-based therapies. In addition, social burdens including education, employment and insurability, which increase the societal costs of adult CHD, are now being recognized for adults living with CHD. This review summarizes the available literature on the economics of adult CHD.

  10. Chagas' Disease: Pregnancy and Congenital Transmission

    PubMed Central

    Hernández, Roberto

    2014-01-01

    Chagas disease is a chronic infection that kills approximately 12,000 people a year. Mass migration of chronically infected and asymptomatic persons has caused globalization of Chagas disease and has made nonvectorial infection, including vertical and blood-borne transmission, more of a threat to human communities than vectorial infection. To control transmission, it is essential to test all pregnant women living in endemic countries and all pregnant women having migrated from, or having lived in, endemic countries. All children born to seropositive mothers should be tested not only within the first month of life but also at ~6 months and ~12 months of age. The diagnosis is made by identification of the parasite in blood before the age of 6 months and by identification of the parasite in blood and/or positive serology after 10 months of age. Follow up for a year is essential as a significant proportion of cases are initially negative and are only detected at a later stage. If the condition is diagnosed and treated early, the clinical response is excellent and the majority of cases are cured. PMID:24949443

  11. Nomenclature for congenital and paediatric cardiac disease: historical perspectives and The International Pediatric and Congenital Cardiac Code.

    PubMed

    Franklin, Rodney C G; Jacobs, Jeffrey Phillip; Krogmann, Otto N; Béland, Marie J; Aiello, Vera D; Colan, Steven D; Elliott, Martin J; William Gaynor, J; Kurosawa, Hiromi; Maruszewski, Bohdan; Stellin, Giovanni; Tchervenkov, Christo I; Walters Iii, Henry L; Weinberg, Paul; Anderson, Robert H

    2008-12-01

    Clinicians working in the field of congenital and paediatric cardiology have long felt the need for a common diagnostic and therapeutic nomenclature and coding system with which to classify patients of all ages with congenital and acquired cardiac disease. A cohesive and comprehensive system of nomenclature, suitable for setting a global standard for multicentric analysis of outcomes and stratification of risk, has only recently emerged, namely, The International Paediatric and Congenital Cardiac Code. This review, will give an historical perspective on the development of systems of nomenclature in general, and specifically with respect to the diagnosis and treatment of patients with paediatric and congenital cardiac disease. Finally, current and future efforts to merge such systems into the paperless environment of the electronic health or patient record on a global scale are briefly explored. On October 6, 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. In January, 2005, the International Nomenclature Committee was constituted in Canada as The International Society for Nomenclature of Paediatric and Congenital Heart Disease. This International Society now has three working groups. The Nomenclature Working Group developed The International Paediatric and Congenital Cardiac Code and will continue to maintain, expand, update, and preserve this International Code. It will also provide ready access to the International Code for the global paediatric and congenital cardiology and cardiac surgery communities, related disciplines, the healthcare industry, and governmental agencies, both electronically and in published form. The Definitions Working Group will write definitions for the terms in the International Paediatric and Congenital Cardiac Code, building on the previously published definitions from the Nomenclature Working Group. The Archiving Working Group, also known as The Congenital Heart Archiving

  12. [Real time 3D echocardiography in congenital heart disease].

    PubMed

    Acar, P; Dulac, Y; Taktak, A; Villacèque, M

    2004-05-01

    The introduction of the 3D mode in echocardiography has led to its use in everyday clinical practice. One hundred and fifty real time 3D echocardiographic examinations were performed in 20 foetus, 110 children and 20 adults with various congenital heart lesions (shunts, valvular lesions, aortic diseases). The 4x matricial probe enables the instantaneous acquisition of transthoracic volumes. Four modes of 3D imaging were used: real time, total volume, colour Doppler and biplane. Quantitative measurements were performed at an outlying station. The feasibility of the method in the foetus, the child and the adult was respectively 90%, 99% and 85%. Real time 3D echocardiography did not affect the diagnoses made by standard echocardiography. The 3D imaging gave a more accurate description of atrial septal defects and congenital valvular lesions. Biplane imaging was decisive in the quantitative approach to aortic dilatation of Marfan's syndrome and in segmental analysis of the foetal heart. 3D colour Doppler imaging has been disappointing but the possibilities of volumic quantification of blood flow are very promising. The present limitations of the method are the inadequate resolution in the small child and the absence of quantitative measurement on the echograph. The facility of utilisation of the matricial probe should lead to routine usage of 3D echocardiography as with 2D and the Doppler modes. Its value should be decisive in many congenital cardiac lesions requiring surgery or interventional catheterisation. PMID:15214550

  13. Clinical Research Priorities in Adult Congenital Heart Disease

    PubMed Central

    Cotts, Timothy; Khairy, Paul; Opotowsky, Alexander R.; John, Anitha S.; Valente, Anne Marie; Zaidi, Ali N.; Cook, Stephen C.; Aboulhosn, Jamil; Ting, Jennifer Grando; Gurvitz, Michelle; Landzberg, Michael J.; Verstappen, Amy; Kay, Joseph; Earing, Michael; Franklin, Wayne; Kogon, Brian; Broberg, Craig S.

    2014-01-01

    Background Adult congenital heart disease (ACHD) clinicians are hampered by the paucity of data to inform clinical decision-making. The objective of this study was to identify priorities for clinical research in ACHD. Methods A list of 45 research questions was developed by the Alliance for Adult Research in Congenital Cardiology (AARCC), compiled into a survey, and administered to ACHD providers. Patient input was sought via the Adult Congenital Heart Association at community meetings and online forums. The 25 top questions were sent to ACHD providers worldwide via an online survey. Each question was ranked based on perceived priority and weighted based on time spent in ACHD care. The top 10 topics identified are presented and discussed. Results The final online survey yielded 139 responses. Top priority questions related to tetralogy of Fallot (timing of pulmonary valve replacement and criteria for primary prevention ICDs), patients with systemic right ventricles (determining the optimal echocardiographic techniques for measuring right ventricular function, and indications for tricuspid valve replacement and primary prevention ICDs), and single ventricle/Fontan patients (role of pulmonary vasodilators, optimal anticoagulation, medical therapy for preservation of ventricular function, treatment for protein losing enteropathy). In addition, establishing criteria to refer ACHD patients for cardiac transplantation was deemed a priority. Conclusions The ACHD field is in need of prospective research to address fundamental clinical questions. It is hoped that this methodical consultation process will inform researchers and funding organizations about clinical research topics deemed to be of high priority. PMID:24411207

  14. Transcatheter interventions for multiple lesions in adults with congenital heart disease

    PubMed Central

    Hamid, Tahir; Clarke, Bernard; Mahadevan, Vaikom

    2012-01-01

    Recent advances in diagnosis, surgery and interventional management have significantly changed the quality of life of patients with congenital heart disease. Historically, congenital heart disease patients with multiple cardiac lesions have been referred for surgery; however, with the advent of newer technologies and expertise, transcatheter treatment has evolved as an alternative option. A series of patients who underwent interventional procedures for multiple congenital heart disease lesions with excellent procedural and medium-term outcomes is reported. PMID:22826648

  15. Strain Variation and Disease Severity in Congenital Cytomegalovirus Infection: In Search of a Viral Marker.

    PubMed

    Arav-Boger, Ravit

    2015-09-01

    The wide spectrum of congenital cytomegalovirus (CMV) disease and known differences in the biology and in vitro growth of CMV strains continue to drive studies in search for specific viral genetic determinants that may predict severity of congenital CMV disease. Several CMV genes have been studied in detail in congenitally infected children, but the complexity of the viral genome and differences in the definition of symptomatic disease versus asymptomatic CMV infection continue to raise questions related to what constitutes a pathogenic CMV strain.

  16. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part II: Acyanotic Congenital Heart Disease and Extracardiac Abnormalities.

    PubMed

    Bhat, Venkatraman; Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-06-01

    Acyanotic heart disease constitutes a significant majority of patient who may present with non-cardiac symptoms. Either they are detected incidentally or present with respiratory complaints. Equipped with knowledge of anatomy by echocardiography and radiographic methods described in previous part of this presentation, diagnosis may be confidently attempted. On plain radiography acyanotic congenital heart diseases have variable appearance depending upon severity of disease. Cardiac size, chamber enlargement and pulmonary vascular pattern are key elements. Typically left to right shunts with large volume flow are associated with pulmonary plethora. Plain radiography has an important role in detecting manifestation of pulmonary arterial hypertension. Severe stenosis of pulmonary valve is associated with pulmonary oligemia. Small intra-cardiac shunts and anomalies of coronary arteries generally present with normal cardiac size and pulmonary arterial pattern. Disease spectrum presented in this illustration demands thorough scrutiny of pulmonary, osseous and abdominal abnormalities. This section illustrates some commonly encountered spectrum of acyanotic cardiac disease.

  17. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part II: Acyanotic Congenital Heart Disease and Extracardiac Abnormalities

    PubMed Central

    Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-01-01

    Acyanotic heart disease constitutes a significant majority of patient who may present with non-cardiac symptoms. Either they are detected incidentally or present with respiratory complaints. Equipped with knowledge of anatomy by echocardiography and radiographic methods described in previous part of this presentation, diagnosis may be confidently attempted. On plain radiography acyanotic congenital heart diseases have variable appearance depending upon severity of disease. Cardiac size, chamber enlargement and pulmonary vascular pattern are key elements. Typically left to right shunts with large volume flow are associated with pulmonary plethora. Plain radiography has an important role in detecting manifestation of pulmonary arterial hypertension. Severe stenosis of pulmonary valve is associated with pulmonary oligemia. Small intra-cardiac shunts and anomalies of coronary arteries generally present with normal cardiac size and pulmonary arterial pattern. Disease spectrum presented in this illustration demands thorough scrutiny of pulmonary, osseous and abdominal abnormalities. This section illustrates some commonly encountered spectrum of acyanotic cardiac disease. PMID:27504381

  18. Echocardiography in congenital heart disease. An aid to surgical diagnosis.

    PubMed

    Meyer, R A

    1977-05-01

    Echocardiography is an important noninvasive method for accurately diagnosing many congenital cardiac defects. This method provides significant information so that cardiac surgery, when necessary, can be planned with greater facility. The value of the sonar method rests not only on its ability to diagnose specific cardiac defects but also to exclude heart disease, especially in infants with shock or cyanosis from noncardiac causes. Development of two-dimensional real-time scanning systems should provide greater understanding of anatomic spatial relationships and ease of diagnosis.

  19. [Anesthesia for non-cardiac surgery in children with congenital and acquired heart diseases].

    PubMed

    Le Bel, S

    2013-01-01

    The goals of this review are to recall some pathophysiological principles at work in most of congenital heart diseases; to specify factors to be considered when defining perioperative risk for a child with an acquired or congenital heart disease; to describe an anaesthetic management strategy in the context of some specific heart diseases.

  20. Adolescents and Adults with Congenital Heart Diseases in Oman

    PubMed Central

    Al-Balushi, Asim; Al-Kindi, Hamood; Al-Shuaili, Hamood; Kumar, Suresh; Al-Maskari, Salim

    2015-01-01

    Objectives The aim of our study was to examine the spectrum, demographics, and mortality rate among adolescents and adults with congenital heart diseases (CHD) in Oman. Methods Data was collected retrospectively from the Royal Hospital, Muscat, electronic health records for all patients with a diagnosis of CHD aged 13 years and above. Data was analyzed according to the type of CHD and in-hospital mortality was assessed using Kaplan-Meier survival analysis. Results A total of 600 patients with CHD were identified, among them 145 (24%) were aged 18 years or below. The median age was 24 years. The majority of patients had a simple form of CHD. Atrial and ventricular septal defects together constituted 62.8% of congenital heart diseases. Most patients were clustered in Muscat (32%) and the Batinah regions (31.1%) of Oman. Patients with tetralogy of Fallot and Fontan had shorter survival time than recorded in the published literature. Conclusion Mostly simple forms of CHD in younger patients was observed. The survival rate was significantly shortened in more complex lesions compared to simple lesions. A national data registry for CHD is needed to address the morbidities and mortality associated with the disease. PMID:25829997

  1. Computational modeling and engineering in pediatric and congenital heart disease

    PubMed Central

    Marsden, Alison L.; Feinstein, Jeffrey A.

    2015-01-01

    Purpose of review Recent methodological advances in computational simulations are enabling increasingly realistic simulations of hemodynamics and physiology, driving increased clinical utility. We review recent developments in the use of computational simulations in pediatric and congenital heart disease, describe the clinical impact in modeling in single ventricle patients, and provide an overview of emerging areas. Recent Findings Multiscale modeling combining patient specific hemodynamics with reduced order (i.e. mathematically and computationally simplified) circulatory models has become the defacto standard for modeling local hemodynamics and “global” circulatory physiology. We review recent advances that have enabled faster solutions, discuss new methods, (e.g. fluid structure interaction and uncertainty quantification), which lend realism both computationally and clinically to results, highlight novel computationally-derived surgical methods for single ventricle patients, and discuss areas in which modeling has begun to exert its influence including Kawasaki disease, fetal circulation, tetralogy of Fallot, (and pulmonary tree), and circulatory support. Summary Computational modeling is emerging as a crucial tool for clinical decision-making and evaluation of novel surgical methods and interventions in pediatric cardiology and beyond. Continued development of modeling methods, with an eye towards clinical needs, will enable clinical adoption in a wide range of pediatric and congenital heart diseases. PMID:26262579

  2. Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    ClinicalTrials.gov

    2016-07-27

    Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

  3. Diagnosis and management of rare congenital nonimmune hemolytic disease.

    PubMed

    Gallagher, Patrick G

    2015-01-01

    Rare, congenital nonimmune hemolytic disorders of the erythrocyte, although uncommon, are important causes of anemia in the child and adult. These are a heterogeneous group of diseases that disrupt normal erythrocyte structure and function in varying ways. Predominant are abnormalities of hemoglobin stability, defects of erythrocyte metabolism, and disorders of erythrocyte hydration. Unstable hemoglobinopathies may lead to chronic or episodic hemolysis. Perturbation of critical enzymes of the Embden-Meyerhof pathway lead to altered erythrocyte metabolism and chronic hemolysis. Disorders of erythrocyte hydration are an under-recognized cause of hemolytic anemia. Beyond pathophysiologic mechanisms of disease, clinical, laboratory, and genetic heterogeneity characterize this group of disorders. Often, they are underdiagnosed or misdiagnosed. This review discusses pathophysiology, inheritance, clinical findings, laboratory manifestations, and management considerations in several rare nonimmune hemolytic diseases including the unstable hemoglobins, disorders of erythrocyte metabolism, and abnormalities of erythrocyte hydration.

  4. Genetic link between renal birth defects and congenital heart disease

    PubMed Central

    San Agustin, Jovenal T.; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A.; Liu, Xiaoqin; Lo, Cecilia W.; Pazour, Gregory J.

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  5. Genetic link between renal birth defects and congenital heart disease.

    PubMed

    San Agustin, Jovenal T; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A; Liu, Xiaoqin; Lo, Cecilia W; Pazour, Gregory J

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  6. Potential effects of environmental chemical contamination in congenital heart disease.

    PubMed

    Gorini, Francesca; Chiappa, Enrico; Gargani, Luna; Picano, Eugenio

    2014-04-01

    There is compelling evidence that prenatal exposures to environmental xenobiotics adversely affect human development and childhood. Among all birth defects, congenital heart disease (CHD) is the most prevalent of all congenital malformations and remains the leading cause of death. It has been estimated that in most cases the causes of heart defects remain unknown, while a growing number of studies have indicated the potential role of environmental agents as risk factors in CHD occurrence. In particular, maternal exposure to chemicals during the first trimester of pregnancy represents the most critical window of exposure for CHD. Specific classes of xenobiotics (e.g. organochlorine pesticides, organic solvents, air pollutants) have been identified as potential risk factors for CHD. Nonetheless, the knowledge gained is currently still incomplete as a consequence of the frequent heterogeneity of the methods applied and the difficulty in estimating the net effect of environmental pollution on the pregnant mother. The presence of multiple sources of pollution, both indoor and outdoor, together with individual lifestyle factors, may represent a further confounding element for association with the disease. A future new approach for research should probably focus on individual measurements of professional, domestic, and urban exposure to physical and chemical pollutants in order to accurately retrace the environmental exposure of parents of affected offspring during the pre-conceptional and pregnancy periods.

  7. [Assessment of exercise capacity in congenital heart disease].

    PubMed

    Bouzo-López, Raquel; González-Represas, Alicia

    2016-01-01

    For many years, the treatment of congenital heart diseases has been a field in which, based on the seriousness of these conditions, treatment options were viewed with the greatest deference. This has conditioned, in many cases, the interventions to be undertaken in each. In this sense, exercise was thought to have a negative impact and thus the practise of almost any physical activity was limited. Although there has recently been a change in the paradigm with respect to exercise, this idea continues to hold sway. For many cardiopathies, the information obtained through a stress test is essential in order to implement and supervise an exercise program. The aim of this study is to analyze the parameters within the stress test which allow for an adequate stratification of the risk to subjects with congenital heart diseases who undertake exercise, as well as their values in accordance with the type of pathology, the gravity of such, and the age of the patients. Furthermore, these parameters will be analyzed for both their survival markers and the protocols that can best be adjusted for patients with these characteristic.

  8. Genetics of Congenital Heart Disease: The Glass Half Empty

    PubMed Central

    Fahed, Akl C.; Gelb, Bruce D.; Seidman, J. G.; Seidman, Christine E.

    2013-01-01

    Congenital heart disease (CHD) is the most common congenital anomaly in newborn babies. Cardiac malformations have been produced in multiple experimental animal models, by perturbing selected molecules that function in the developmental pathways involved in myocyte specification, differentiation or cardiac morphogenesis. In contrast, the precise genetic, epigenetic or environmental basis for these perturbations in humans remains poorly understood. Over the past few decades, researchers have tried to bridge this knowledge gap through conventional genome-wide analyses of rare Mendelian CHD families and by sequencing candidate genes in CHD cohorts. While yielding few, usually highly penetrant, disease gene mutations, these discoveries provided three notable insights. First, human CHD mutations impact a heterogeneous set of molecules that orchestrate cardiac development. Second, CHD mutations often alter gene/protein dosage. Third, identical pathogenic CHD mutations cause a variety of distinct malformations, implying that higher order interactions account for particular CHD phenotypes. The advent of contemporary genomic technologies including SNP arrays, next-generation sequencing, and CNV platforms are accelerating the discovery of genetic causes of CHD. Importantly, these approaches enable study of sporadic cases, the most common presentation of CHD. Emerging results from ongoing genomic efforts have validated earlier observations learned from the monogenic CHD families. In this review, we explore how continued use of these technologies and integration of systems biology is expected to expand our understanding of the genetic architecture of CHD. PMID:23410880

  9. Washing our hands of the congenital cytomegalovirus disease epidemic

    PubMed Central

    Cannon, Michael J; Davis, Katherine Finn

    2005-01-01

    Background Each year in the United States, an estimated 40,000 children are born with congenital cytomegalovirus (CMV) infection, causing an estimated 400 deaths and leaving approximately 8000 children with permanent disabilities such as hearing or vision loss, or mental retardation. More children are affected by serious CMV-related disabilities than by several better-known childhood maladies, including Down syndrome, fetal alcohol syndrome, and spina bifida. Discussion Congenital CMV is a prime target for prevention not only because of its substantial disease burden but also because the biology and epidemiology of CMV suggest that there are ways to reduce viral transmission. Because exposure to the saliva or urine of young children is a major cause of CMV infection among pregnant women, it is likely that good personal hygiene, especially hand-washing, can reduce the risk of CMV acquisition. Experts agree that such measures are likely to be efficacious (i.e., they will work if consistently followed) and the American College of Obstetricians and Gynecologists recommends that physicians counsel pregnant women about preventing CMV acquisition through careful attention to hygiene. However, because of concerns about effectiveness (i.e., Will women consistently follow hygienic practices as the result of interventions?), the medical and public health communities appear reluctant to embrace primary CMV prevention via improved hygienic practices, and educational interventions are rare. Current data on the effectiveness of such measures in preventing CMV infection are promising, but limited. There is strong evidence, however, that educational interventions can prevent other infectious diseases with similar transmission modes, suggesting that effective interventions can also be found for CMV. Until a CMV vaccine becomes available, effective educational interventions are needed to inform women about congenital CMV prevention. Summary Perhaps no single cause of birth defects

  10. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part III: Cyanotic Heart Diseases and Complex Congenital Anomalies.

    PubMed

    Bhat, Venkatraman; Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-07-01

    From the stand point of radiographic analysis most of the complex cyanotic congenital heart diseases (CHD), can be divided into those associated with decreased or increased pulmonary vascularity. Combination of a specific cardiac configuration and status of lung vasculature in a clinical context allows plain film diagnosis to be predicted in some CHD. Correlation of the position of the cardiac apex in relation to the visceral situs is an important information that can be obtained from the plain film. This information helps in gathering information about the atrio-ventricular, ventricular arterial concordance or discordance. Categorization of the cyanotic heart disease based on vascularity is presented below. Thorough understanding of cardiac anatomy by different imaging methods is essential in understanding and interpreting complex cardiac disease. Basic anatomical details and background for interpretation are provided in the previous parts of this presentation.

  11. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part III: Cyanotic Heart Diseases and Complex Congenital Anomalies

    PubMed Central

    Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-01-01

    From the stand point of radiographic analysis most of the complex cyanotic congenital heart diseases (CHD), can be divided into those associated with decreased or increased pulmonary vascularity. Combination of a specific cardiac configuration and status of lung vasculature in a clinical context allows plain film diagnosis to be predicted in some CHD. Correlation of the position of the cardiac apex in relation to the visceral situs is an important information that can be obtained from the plain film. This information helps in gathering information about the atrio-ventricular, ventricular arterial concordance or discordance. Categorization of the cyanotic heart disease based on vascularity is presented below. Thorough understanding of cardiac anatomy by different imaging methods is essential in understanding and interpreting complex cardiac disease. Basic anatomical details and background for interpretation are provided in the previous parts of this presentation. PMID:27630924

  12. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part III: Cyanotic Heart Diseases and Complex Congenital Anomalies.

    PubMed

    Bhat, Venkatraman; Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-07-01

    From the stand point of radiographic analysis most of the complex cyanotic congenital heart diseases (CHD), can be divided into those associated with decreased or increased pulmonary vascularity. Combination of a specific cardiac configuration and status of lung vasculature in a clinical context allows plain film diagnosis to be predicted in some CHD. Correlation of the position of the cardiac apex in relation to the visceral situs is an important information that can be obtained from the plain film. This information helps in gathering information about the atrio-ventricular, ventricular arterial concordance or discordance. Categorization of the cyanotic heart disease based on vascularity is presented below. Thorough understanding of cardiac anatomy by different imaging methods is essential in understanding and interpreting complex cardiac disease. Basic anatomical details and background for interpretation are provided in the previous parts of this presentation. PMID:27630924

  13. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part III: Cyanotic Heart Diseases and Complex Congenital Anomalies

    PubMed Central

    Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-01-01

    From the stand point of radiographic analysis most of the complex cyanotic congenital heart diseases (CHD), can be divided into those associated with decreased or increased pulmonary vascularity. Combination of a specific cardiac configuration and status of lung vasculature in a clinical context allows plain film diagnosis to be predicted in some CHD. Correlation of the position of the cardiac apex in relation to the visceral situs is an important information that can be obtained from the plain film. This information helps in gathering information about the atrio-ventricular, ventricular arterial concordance or discordance. Categorization of the cyanotic heart disease based on vascularity is presented below. Thorough understanding of cardiac anatomy by different imaging methods is essential in understanding and interpreting complex cardiac disease. Basic anatomical details and background for interpretation are provided in the previous parts of this presentation.

  14. School Children with Congenital Heart Disease: Quality of Life and Policy Implications

    ERIC Educational Resources Information Center

    Roberts, Jillian; Massie, Kendra; Mortimer, Tamara; Maxwell, Lani

    2005-01-01

    Congenital heart disease is one of the most common pediatric chronic illnesses that can have an impact on the lives of affected children and their families. Despite the growing number of school-age children who live with congenital heart disease, few researchers have investigated the lives and well-being of these children and their families. The…

  15. Congenital Heart Disease: Guidelines of Care for Children with Special Health Care Needs.

    ERIC Educational Resources Information Center

    Minnesota State Dept. of Health, Minneapolis. Services for Children with Handicaps.

    These guidelines were written to help families coordinate the health care that may be needed by a child with congenital heart disease. The booklet begins with general information about congenital heart disease. It then discusses the goals of health care, the health care team, the importance of periodic health care, and record keeping procedures.…

  16. Assessing potential divers with a history of congenital heart disease.

    PubMed

    Turner, Mark S

    2015-06-01

    This article describes a structured approach to assessing the medical fitness of potential divers who have a history of congenital heart disease. The importance of a complete and accurate cardiac history, including details of surgery and other interventions is emphasized. Specific assessment of intracardiac shunts, exercise capacity and ability to deal with the physical challenge of diving, risk of diving-included pulmonary oedema, of arrhythmia and of incapacity in case of arrhythmia and the consequences of surgical and catheter treatment are discussed, including the risks associated with lung injury and the pressure limitations of implanted devices like pacemakers. Clinical assessment will usually include echocardiography and exercise testing with additional investigations such as MRI scanning, CT of heart or lungs, cardiopulmonary exercise testing and ECG monitoring, as required. Examples of different congenital lesions are given applying this approach (atrial septal defect, tetralogy of Fallot, bicuspid aortic valve and the Fontan circulation). The approach is based on an individual cardiologist's opinion and is not specifically evidence-based, but seeks to apply what is known in other areas of diving medicine to this potentially complex group of patients. PMID:26271135

  17. Menstrual Disturbances in Women With Congenital Heart Diseases

    PubMed Central

    Khajali, Zahra; Ziaei, Soheila; Maleki, Majid

    2016-01-01

    Background Women with congenital heart disease (CHD) may experience menstrual disturbances secondary to hemodynamic instability during the mensturation phase. Objectives We investigated the menstrual bleeding pattern and its relationship with certain clinical findings in adult women with CHD. Patients and Methods Clinical data and menstrual bleeding pattern of adult women ≥15 years old who were referred to adult CHD clinic between March and September 2014 were recorded. Patients with syndromic congenital anomalies were excluded. Results Data of 304 women (151 and 153 with simple and complex CHD groups, respectively) were recorded. Their mean (SD) age was 25.2 (1) years (range, 15 - 46 years). The median (IQR) age at menarche was 13 (12 - 14.25) years. Menarche was later in patients with CHD than in the normal population. Furthermore, the simple group showed earlier menarche than the complex group. The most common menstrual abnormality was menorrhagia in both groups (14.5% and 20.5% in the simple and complex groups, respectively). The incidence of menstrual abnormality was higher, though not significantly, in the complex group (40% vs. 25% in the simple group; P = 0.2). Menorrhagia was associated with the severity of oxygen desaturation (P = 0.007). Conclusions Menstrual abnormalities are common in women with CHD, and therefore this group of patients should be aware of the menstrual function and its abnormalities. PMID:27800455

  18. Risks and Benefits of Exercise Training in Adults With Congenital Heart Disease.

    PubMed

    Chaix, Marie-A; Marcotte, François; Dore, Annie; Mongeon, François-Pierre; Mondésert, Blandine; Mercier, Lise-Andrée; Khairy, Paul

    2016-04-01

    Exercise capacity in adults with various forms of congenital heart disease is substantially lower than that of the general population. Although the underlying congenital heart defect, and its sequelae, certainly contribute to observed exercise limitations, there is evidence suggesting that deconditioning and a sedentary lifestyle are important implicated factors. The prevalence of acquired cardiovascular comorbidities is on the increase in the aging population with congenital heart disease, such that obesity and a sedentary lifestyle confer increased risk. Health fears and misconceptions are common barriers to regular physical activity in adults with congenital heart disease, despite evidence linking lower functional capacity to poor outcomes, and data supporting the safety and efficacy of exercise in bestowing numerous physical and psychosocial rewards. With few exceptions, adults with congenital heart disease should be counselled to exercise regularly. In this contemporary review, we provide a practical approach to assessing adults with congenital heart disease before exercise training. We examine available evidence supporting the safety and benefits of exercise training. Risks associated with exercise training in adults with congenital heart disease are discussed, particularly with regard to sudden cardiac death. Finally, recommendations for exercise training are provided, with consideration for the type of congenital heart disease, the nature (ie, static vs dynamic) and intensity (ie, low, medium, high) of the physical activity, and associated factors such as systemic ventricular dysfunction and residual defects. Further research is required to determine optimal exercise regimens and to identify effective strategies to implement exercise training as a key determinant of healthy living. PMID:26868839

  19. Pacing and Defibrillators in Complex Congenital Heart Disease

    PubMed Central

    Chubb, Henry; O’Neill, Mark; Rosenthal, Eric

    2016-01-01

    Device therapy in the complex congenital heart disease (CHD) population is a challenging field. There is a myriad of devices available, but none designed specifically for the CHD patient group, and a scarcity of prospective studies to guide best practice. Baseline cardiac anatomy, prior surgical and interventional procedures, existing tachyarrhythmias and the requirement for future intervention all play a substantial role in decision making. For both pacing systems and implantable cardioverter defibrillators, numerous factors impact on the merits of system location (endovascular versus non-endovascular), lead positioning, device selection and device programming. For those with Fontan circulation and following the atrial switch procedure there are also very specific considerations regarding access and potential complications. This review discusses the published guidelines, device indications and the best available evidence for guidance of device implantation in the complex CHD population. PMID:27403295

  20. Preconception Counseling for Women with Congenital Heart Disease

    PubMed Central

    Lu, Chun-Wei; Wu, Mei-Hwan; Wang, Jou-Kou; Lin, Min-Tai; Chen, Chun-An; Chiu, Shenn-Nan; Chiu, Hsin-Hui

    2015-01-01

    With advances that have been made over the recent decades in transcatheter and surgical interventions, most patients with congenital heart disease (CHD) can survive into adulthood. Overall, probably half of these surviving patients are female. When these female CHD patients reach childbearing age, however, pregnancy management will be a major issue. In order to meet the demands of fetal growth, the maternal cardiovascular system starts a series of adaptations beginning in early pregnancy. These adaptations include: decreased systemic and pulmonary vascular resistances, decreased blood pressure, expansion of the blood volume, increased heart rate and increased cardiac output. For women with CHD, this hemodynamic alteration may increase the risks of adverse cardiovascular events as well as the fetal and neonatal complications. Therefore, proper risk stratification and effective counseling for women with CHD who are planning their pregnancies is an important undertaking. PMID:27122914

  1. The team approach to pregnancy and congenital heart disease.

    PubMed

    Kafka, Henryk; Johnson, Mark R; Gatzoulis, Michael A

    2006-11-01

    The successful pediatric management of congenital heart disease has resulted in increasing numbers of these patients in the reproductive age group and increasing clinical challenges for their physicians. These challenges can be met successfully, with improved results for mother and child, through a concerted comprehensive team approach that relies on a thorough understanding of the patient's underlying cardiac pathology and its anticipated interaction with the pregnancy, and ongoing close evaluation and communication with a team of trained and experienced specialist, including (but not limited to) cardiologist, obstetricians, anesthetists, pediatricians, clinical nurse specialists, and clinical geneticists. Such teams are not always available locally and it will be necessary to refer medium- and high-risk patients to a specialized tertiary care center.

  2. Pregnancy after fontan repair of complex congenital heart disease.

    PubMed

    Hoare, J V; Radford, D

    2001-11-01

    We describe four successful pregnancies in three women who had previously had a Fontan repair for congenital heart disease. Each pregnancy resulted in a live birth and there was no maternal mortality The infants were premature, being delivered at 26, 30 and 35 weeks, and weighing 1,020, 1,333 and 1,930 g respectively The fourth infant was born at 32 weeks and no birthweight is available. Maternal complications occurred and were those anticipated after a Fontan repair. Two mothers required treatment for supraventricular arrhythmias (atrial flutter and fibrillation). Ventricular failure was present in two mothers and required ongoing drug treatment. Raised systemic venous pressures caused peripheral oedema in two mothers and hepatomegaly and ascites in one mother. The physiology, potential complications, anaesthetic concerns and drug treatment in pregnancy after Fontan repair are discussed.

  3. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

    PubMed Central

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-01-01

    Abstract. Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of 123I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  4. Acquired heart conditions in adults with congenital heart disease: a growing problem.

    PubMed

    Tutarel, Oktay

    2014-09-01

    The number of adults with congenital heart disease is increasing due to the great achievements in the field of paediatric cardiology, congenital heart surgery and intensive care medicine over the last decades. Mortality has shifted away from the infant and childhood period towards adulthood. As congenital heart disease patients get older, a high prevalence of cardiovascular risk factors is encountered similar to the general population. Consequently, the contribution of acquired morbidities, especially acquired heart conditions to patient outcome, is becoming increasingly important. Therefore, to continue the success story of the last decades in the treatment of congenital heart disease and to further improve the outcome of these patients, more attention has to be given to the prevention, detection and adequate therapy of acquired heart conditions. The aim of this review is to give an overview about acquired heart conditions that may be encountered in adults with congenital heart disease.

  5. Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association.

    PubMed

    Wang, Jenny; Steelman, Charlotte K; Vincent, Robert; Richburg, Delene; Chang, Tiffany S; Shehata, Bahig M

    2010-01-01

    Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two cases of patients with anophthalmia and congenital heart defects, and we compare these findings with other syndromes with which anophthalmia has been associated. One of our two patients showed complex congenital heart disease with heterotaxia, polysplenia, and normal lung lobation. These findings may reflect a new dimension of anophthalmia, heterotaxia, and congenital heart disease associations.

  6. Social burden and lifestyle in adults with congenital heart disease.

    PubMed

    Zomer, A Carla; Vaartjes, Ilonca; Uiterwaal, Cuno S P; van der Velde, Enno T; Sieswerda, Gert-Jan T; Wajon, Elly M C; Plomp, Koos; van Bergen, Paul F M; Verheugt, Carianne L; Krivka, Eva; de Vries, Cees J; Lok, Dirk J A; Grobbee, Diederick E; Mulder, Barbara J M

    2012-06-01

    We aimed to evaluate how the presence and severity of congenital heart disease (CHD) influence social life and lifestyle in adult patients. A random sample (n = 1,496) from the CONgenital CORvitia (n = 11,047), the Dutch national registry of adult patients with CHD, completed a questionnaire on educational attainment, employment and marital statuses, and lifestyle (response 76%). The Utrecht Health Project provided a large reference group (n = 6,810) of unaffected subjects. Logistic regression models were used for subgroup analyses and to adjust for age, gender, and socioeconomic status where appropriate. Of all patients 51.5% were men (median age 39 years, interquartile range 29 to 51) with mild (46%), moderate (44%), and severe (10%) CHD. Young (<40-year-old) patients with CHD were more likely to have achieved a lower education (adjusted odds ratios [ORs] 1.6 for men and 1.9 for women, p <0.05 for the 2 comparisons), significantly more often unemployed (adjusted ORs 5.9 and 2.0 for men and women, respectively), and less likely to be in a relationship compared to the reference group (adjusted ORs 8.5 for men and 4.5 for women). These poorer outcomes were seen in all severity groups. Overall, the CHD population smoked less (adjusted OR 0.5, p <0.05), had more sports participation (adjusted OR 1.2, p <0.05), and had less obesity (adjusted OR 0.7, p <0.05) than the reference group. In conclusion, there was a substantial social disadvantage in adult patients with CHD, which was seen in all severity groups and primarily in young men. In contrast, adults with CHD had healthier lifestyles compared to the reference group. PMID:22444325

  7. Urine β 2-Microglobolin in the Patients with Congenital Heart Disease

    PubMed Central

    Noori, Noor Mohammad; Sadeghi, Simin; Shahramian, Iraj; Keshavarz, Kambiz

    2013-01-01

    Background This study aimed to evaluate the renal tubular function in the patients with congenital heart disease using β2-microglobulin. Methods In this case-control study, based on oxymetry, the patients with congenital heart disease were divided into two groups of cyanotic (n=20) and acyanotic (n=20). Congenital heart disease was diagnosed by echocardiography. Healthy individuals within the same age and sex groups were used as controls. Na+, β2-micro globulin, creatinine (Cr), and β2-microglobulin/Cr ratio were measured in random urine samples and the results were compared to the same parameters in the control group using Tukey, One-Way ANOVA, and X2 tests. Results Based on the study results, urine sodium in the patients with cyanotic heart disease was significantly different from that of the controls (P=0.023). The results also revealed a significant difference between the two groups with congenital heart disease regarding urine β2-microglobulin (P=0.045). In addition, the patients with cyanotic heart disease were significantly different from those with acyanotic heart disease and the controls regarding urine β2-micro globulin/Cr ratio (P=0.012 and P=0.026, respectively). Conclusions The results of this study demonstrated that renal tubular dysfunction began in the patients with congenital heart disease, especially in those with cyanotic congenital heart disease. Besides, early diagnosis before cardiac surgery leads to better control of renal tubular disease. PMID:24757623

  8. Pheochromocytoma and Paraganglioma in Cyanotic Congenital Heart Disease

    PubMed Central

    Moko, Lilamarie E.; Ginns, Jonathan; Rosenbaum, Marlon; Greutmann, Matthias; Aboulhosn, Jamil; Hageman, Abbie; Kim, Yuli; Deng, Lisa X.; Grewal, Jasmine; Zaidi, Ali N.; Almansoori, Ghadeera; Oechslin, Erwin; Earing, Michael; Landzberg, Michael J.; Singh, Michael N.; Wu, Fred

    2015-01-01

    Context: Aberrant cellular oxygen sensing is a leading theory for development of pheochromocytoma (PHEO) and paraganglioma (PGL). Objective: The objective of the study was to test the hypothesis that chronic hypoxia in patients with cyanotic congenital heart disease (CCHD) increases the risk for PHEO-PGL. Design/Setting/Participants: We investigated the association between CCHD and PHEO-PGL with two complementary studies: study 1) an international consortium was established to identify congenital heart disease (CHD) patients with a PHEO-PGL diagnosis confirmed by pathology or biochemistry and imaging; study 2) the 2000–2009 Nationwide Inpatient Survey, a nationally representative discharge database, was used to determine population-based cross-sectional PHEO-PGL frequency in hospitalized CCHD patients compared with noncyanotic CHD and those without CHD using multivariable logistic regression adjusted for age, sex, and genetic PHEO-PGL syndromes. Results: In study 1, we identified 20 PHEO-PGL cases, of which 18 had CCHD. Most presented with cardiovascular or psychiatric symptoms. Median cyanosis duration for the CCHD PHEO-PGL cases was 20 years (range 1–57 y). Cases were young at diagnosis (median 31.5 y, range 15–57 y) and 7 of 18 had multiple tumors (two bilateral PHEO; six multifocal or recurrent PGL), whereas 11 had single tumors (seven PHEO; four PGL). PGLs were abdominal (13 of 17) or head/neck (4 of 17). Cases displayed a noradrenergic biochemical phenotype similar to reported hypoxia-related PHEO-PGL genetic syndromes but without clinical signs of such syndromes. In study 2, hospitalized CCHD patients had an increased likelihood of PHEO-PGL (adjusted odds ratio 6.0, 95% confidence interval 2.6–13.7, P < .0001) compared with those without CHD; patients with noncyanotic CHD had no increased risk (odds ratio 0.9, P = .48). Conclusions: There is a strong link between CCHD and PHEO-PGL. Whether these rare diseases coassociate due to hypoxic stress, common

  9. Theory of mind deficit in adult patients with congenital heart disease.

    PubMed

    Chiavarino, Claudia; Bianchino, Claudia; Brach-Prever, Silvia; Riggi, Chiara; Palumbo, Luigi; Bara, Bruno G; Bosco, Francesca M

    2015-10-01

    This article provides the first assessment of theory of mind, that is, the ability to reason about mental states, in adult patients with congenital heart disease. Patients with congenital heart disease and matched healthy controls were administered classical theory of mind tasks and a semi-structured interview which provides a multidimensional evaluation of theory of mind (Theory of Mind Assessment Scale). The patients with congenital heart disease performed worse than the controls on the Theory of Mind Assessment Scale, whereas they did as well as the control group on the classical theory-of-mind tasks. These findings provide the first evidence that adults with congenital heart disease may display specific impairments in theory of mind.

  10. Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease

    PubMed Central

    Bosman, Alexis; Edel, Michael J.; Blue, Gillian; Dilley, Rodney J.; Harvey, Richard P.; Winlaw, David S.

    2015-01-01

    Congenital heart disease places a significant burden on the individual, family and community despite significant advances in our understanding of aetiology and treatment. Early research in ischaemic heart disease has paved the way for stem cell technology and bioengineering, which promises to improve both structural and functional aspects of disease. Stem cell therapy has demonstrated significant improvements in cardiac function in adults with ischaemic heart disease. This finding, together with promising case studies in the paediatric setting, demonstrates the potential for this treatment in congenital heart disease. Furthermore, induced pluripotent stems cell technology, provides a unique opportunity to address aetiological, as well as therapeutic, aspects of disease. PMID:26239354

  11. The spectrum of congenital heart diseases in down syndrome

    PubMed Central

    Morsy, Mohamed M.; Algrigri, Osama O.; Salem, Sherif S.; Abosedera, Mostafa M.; Abutaleb, Ashraf R.; Al-Harbi, Khaled M.; Al-Mozainy, Ibrahim S.; Alnajjar, Abdulhameed A.; Habeb, Abdelhadi M.; Abo-Haded, Hany M.

    2016-01-01

    Objectives: To to define the frequency and patterns of congenital heart disease (CHD) among children with Down syndrome (DS) in Northwest Saudi Arabia. Methods: We included children with confirmed DS referred to the regional pediatric cardiology unit in Madinah Maternity and Children Hospital between January 2008 and December 2013. Children were identified from the unit’s data-base and the charts were reviewed retrospectively. We excluded term and preterm children with patent ducts arteriosus (PDA) and persistent foramen oval spontaneously resolved during the first 4 weeks of life. Results: A total of 302 children with DS were identified (50.3% male). Of these, 177 (58.6%) had CHD. Atrioventricular septal defect (AVSD) was the most frequent lesion identified in 72/177 (40.7%) followed by mixed left to right shunt defects (14.7%) and secundum atrial septal defect (ASD) (11.8%). Ventricular septal defect was detected in 10.7% and 8.5% had PDA beyond the neonatal period. There was no gender difference in the frequency of CHD (p=0.9) and the presence of CHD was not related to the genetic cause of DS (p=0.9). Conclusion: The frequency of CHD in our DS cohort is comparable with Europe, Asia, and other KSA regions. However its pattern appears to be different from some areas in KSA. PMID:27381537

  12. Genetic testing in congenital heart disease: A clinical approach.

    PubMed

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    2016-02-26

    Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

  13. Genetic testing in congenital heart disease: A clinical approach

    PubMed Central

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    2016-01-01

    Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

  14. Abnormal Cerebral Microstructure in Premature Neonates with Congenital Heart Disease

    PubMed Central

    Paquette, Lisa B.; Wisnowski, Jessica L.; Ceschin, Rafael; Pruetz, Jay D.; Detterich, Jon A.; Del Castillo, Sylvia; Nagasunder, Arabhi C.; Kim, Richard; Painter, Michael J.; Gilles, Floyd H.; Nelson, Marvin D.; Williams, Roberta G.; Blüml, Stefan; Panigrahy, Ashok

    2013-01-01

    Background and Purpose Abnormal cerebral microstructure has been documented in term neonates with congenital heart disease (CHD) portending risk for injury and poor neurodevelopmental outcome. Our hypothesis was that preterm neonates with CHD would demonstrate diffuse cerebral microstructural abnormalities when compared to critically ill neonates without CHD. A secondary aim was to identify any association between microstructural abnormalities, white matter injury (e.g., punctate white matter lesions, pWMLs) and other clinical variables, including heart lesion. Material and Methods Using Tract-Based-Spatial-Statistics (TBSS), an unbiased, voxel-wise method for analyzing diffusion tensor imaging data, we compared 21 preterm neonates with CHD to two cohorts of neonates without CHD: 28 term and 27 preterm neonates, identified from the same neonatal intensive care unit. Results Compared to term neonates without CHD, preterm neonates with CHD had microstructural abnormalities in widespread regions of the central white matter. However, 42% of the preterm CHD neonates had pWMLs. When neonates with pWMLs were excluded, microstructural abnormalities remained only in the splenium. Preterms with CHD had similar microstructure to preterms without CHD. Conclusion Diffuse microstructural abnormalities were observed in preterm neonates with CHD, strongly associated with pWMLs. Independently, regional vulnerability of the splenium, a structure associated with visual spatial function, was observed in all preterm CHD neonates. PMID:23703146

  15. Autonomic regulation in fetuses with Congenital Heart Disease

    PubMed Central

    Siddiqui, Saira; Wilpers, Abigail; Myers, Michael; Nugent, J. David; Fifer, William P.; Williams, Ismée A.

    2015-01-01

    Background Exposure to antenatal stressors affects autonomic regulation in fetuses. Whether the presence of congenital heart disease (CHD) alters the developmental trajectory of autonomic regulation is not known. Aims/Study Design This prospective observational cohort study aimed to further characterize autonomic regulation in fetuses with CHD; specifically hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF). Subjects From 11/2010 – 11/2012, 92 fetuses were enrolled: 41 controls and 51 with CHD consisting of 19 with HLHS, 12 with TGA, and 20 with TOF. Maternal abdominal fetal electrocardiogram (ECG) recordings were obtained at 3 gestational ages: 19-27 weeks (F1), 28-33 weeks (F2), and 34-38 weeks (F3). Outcome measures Fetal ECG was analyzed for mean heart rate along with 3 measures of autonomic variability of the fetal heart rate: interquartile range, standard deviation, and root mean square of the standard deviation of the heart rate (RMSSD), a measure of parasympathetic activity. Results During F1 and F2 periods, HLHS fetuses demonstrated significantly lower mean HR than controls (p<0.05). Heart rate variability at F3, as measured by standard deviation, interquartile range, and RMSSD was lower in HLHS than controls (p<0.05). Other CHD subgroups showed a similar, though non-significant trend towards lower variability. Conclusions Autonomic regulation in CHD fetuses differs from controls with HLHS fetuses most markedly affected. PMID:25662702

  16. The school age child with congenital heart disease.

    PubMed

    Boyle, Lynn; Kelly, Michelle M; Reynolds, Kathryn; Conlan, Misty; Taylor, Felisha

    2015-01-01

    Currently, in the United States, there are approximately 1 in 150 adults living with congenital heart disease (CHD) (). Infant and childhood mortality related to CHD decreased by 31% between 1987 and 2005 (). This survival trend is predicted to increase each year due to advancements in treatment and management of CHD. This significant shift in the epidemiology of CHD requires nurses to take action in preparing children with CHD and their families for their teenage years and young adulthood. The school-age child is the ideal age to begin teaching the child about their healthcare needs and how to care for themselves in preparation for the future. The school-age child with CHD has specific physical, intellectual, emotional, and developmental needs that must be considered and managed using a multidisciplinary approach. Pediatric nurses must be aware of these needs as they help the child and their family seamlessly and successfully transition into young adulthood as a happy and healthy CHD survivor. PMID:25330332

  17. Direct micromethod for diagnosis of acute and congenital Chagas' disease.

    PubMed Central

    Feilij, H; Muller, L; Gonzalez Cappa, S M

    1983-01-01

    A microhematocrit concentration method (MH) for immediate diagnosis of Chagas' disease during the acute stage or in congenital cases was standardized. Parasitemia as low as 1,000 parasites per ml was detected, after centrifugation of six 50-microliters capillary tubes, by 10-min microscopic observation of each buffy coat spread between slide and cover glass. Operator's time was reduced by at least one-third when compared with a fresh blood observation (FB). In 12 of the 15 patients studied, diagnosis was performed in 4.9 +/- 3.08 min with MH, whereas 27.0 +/- 12.1 min were necessary when FB was used. In the three remaining patients whose FB results were negative, MH became positive after 13, 16, and 40 min. In our experience, FB proved to be more sensitive than previously reported. Suckling mouse inoculation also proved to be sensitive but, as in xenodiagnosis and in hemoculture, the delay in getting the final result was a limiting factor. PMID:6413530

  18. Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease.

    PubMed

    Colley, N; Knott, P D; Gould, S J

    1987-06-01

    We present a case in which an apparent omphalocele, diagnosed at 30 weeks gestation by ultrasound, led to identification of fetal trisomy 18 and congenital heart disease. At delivery, the fetus had the features of trisomy 18 and congenital heart disease but the omphalocele was absent. We suggest that the appearances seen are easily confused with a small omphalocele and could potentially result in unnecessary further investigations being performed.

  19. Nitric oxide for the evaluation and treatment of pulmonary hypertension in congenital heart disease.

    PubMed Central

    Kovalchin, J P; Mott, A R; Rosen, K L; Feltes, T F

    1997-01-01

    The use of inhaled nitric oxide as a selective pulmonary vasodilator has expanded to include patients with congenital heart disease and pulmonary hypertension. The therapeutic and diagnostic roles of inhaled nitric oxide offer additional alternatives and benefits to these patients with pulmonary hypertension, particularly in the postoperative setting. This article reviews the background, mechanism of action, toxicities, and current clinical applications of inhaled nitric oxide in the child with congenital heart disease and pulmonary hypertension. PMID:9456484

  20. Therapeutic Cardiac Catheterizations for Children with Congenital Heart Disease

    MedlinePlus

    ... Cardiac Catheterization In the last two decades, tremendous medical advances have been made. These allow congenital heart defects to be treated in the cath lab without surgery. Valvuloplasty or Balloon Valvotomy This procedure is done to open a ...

  1. Hypoalbuminaemia predicts outcome in adult patients with congenital heart disease

    PubMed Central

    Kempny, Aleksander; Diller, Gerhard-Paul; Alonso-Gonzalez, Rafael; Uebing, Anselm; Rafiq, Isma; Li, Wei; Swan, Lorna; Hooper, James; Donovan, Jackie; Wort, Stephen J; Gatzoulis, Michael A; Dimopoulos, Konstantinos

    2015-01-01

    Background In patients with acquired heart failure, hypoalbuminaemia is associated with increased risk of death. The prevalence of hypoproteinaemia and hypoalbuminaemia and their relation to outcome in adult patients with congenital heart disease (ACHD) remains, however, unknown. Methods Data on patients with ACHD who underwent blood testing in our centre within the last 14 years were collected. The relation between laboratory, clinical or demographic parameters at baseline and mortality was assessed using Cox proportional hazards regression analysis. Results A total of 2886 patients with ACHD were included. Mean age was 33.3 years (23.6–44.7) and 50.1% patients were men. Median plasma albumin concentration was 41.0 g/L (38.0–44.0), whereas hypoalbuminaemia (<35 g/L) was present in 13.9% of patients. The prevalence of hypoalbuminaemia was significantly higher in patients with great complexity ACHD (18.2%) compared with patients with moderate (11.3%) or simple ACHD lesions (12.1%, p<0.001). During a median follow-up of 5.7 years (3.3–9.6), 327 (11.3%) patients died. On univariable Cox regression analysis, hypoalbuminaemia was a strong predictor of outcome (HR 3.37, 95% CI 2.67 to 4.25, p<0.0001). On multivariable Cox regression, after adjusting for age, sodium and creatinine concentration, liver dysfunction, functional class and disease complexity, hypoalbuminaemia remained a significant predictor of death. Conclusions Hypoalbuminaemia is common in patients with ACHD and is associated with a threefold increased risk of risk of death. Hypoalbuminaemia, therefore, should be included in risk-stratification algorithms as it may assist management decisions and timing of interventions in the growing ACHD population. PMID:25736048

  2. Coronary artery problems and disease in adults with congenital heart disease: how to evaluate, how to prevent, how to treat.

    PubMed

    Cataldo, S; Stuart, A G

    2014-10-01

    There are a wide variety of coronary artery anomalies and disease in adults with congenital heart disease (CHD). In fact, the increasing burden of acquired coronary artery disease (CAD) has to be considered in addition to congenital abnormalities of the coronary arteries, isolated or associated to other congenital diseases. This is largely a consequence of the increasing number of patients reaching older age. Due to complex underlying cardiac anatomy, previous surgery and comorbidities, treatment can be challenging. Individualized and multidisciplinary management involving congenital heart cardiologists, cardiac surgeons, coronary interventionists and imaging specialists is essential. This review gives an overview of coronary artery involvement in adults with CHD, summarizes the current literature and focuses on prevention, diagnosis and treatment. The potential role of cardiovascular risk factors for CAD is also discussed.

  3. Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

    PubMed Central

    Quartermain, Michael D.; Pasquali, Sara K.; Hill, Kevin D.; Goldberg, David J.; Huhta, James C.; Jacobs, Jeffrey P.; Jacobs, Marshall L.; Kim, Sunghee; Ungerleider, Ross M.

    2016-01-01

    Background Prenatal diagnosis allows for improved peri-operative outcomes of fetuses with certain forms of congenital heart disease (CHD). Variability in prenatal diagnosis has been demonstrated in other countries, leading to efforts to improve fetal imaging protocols and access to care, but has not been examined across the United States. Objective To evaluate national variation in prenatal detection across geographic region and defect type in neonates and infants with CHD undergoing heart surgery. Methods Cardiovascular operations performed in patients ≤ 6 months of age within the United States and included in the STS-CHS Surgical Database (2006–2012) were eligible for inclusion. Centers with >15% missing prenatal diagnosis data were excluded from the study. Prenatal diagnosis rates were compared across geographic location of residence and defect type using the Chi-square test. Results Overall, the study included 31,374 patients from 91 STS-CHS participating centers across the United States. Prenatal detection occurred in 34% and increased every year from 26% (2006) to 42% (2012). There was significant geographic variation in rates of prenatal diagnosis across states (range 11.8 – 53.4%, p < 0.0001). Significant variability by defect type was also observed with higher rates for lesions identifiable on 4-chamber view versus those requiring outflow tract visualization (57% versus 32%, p < 0.0001). Conclusions Rates of prenatal CHD detection in the United States remain low for patients undergoing surgical intervention, with significant variability between states and across defect type. Further studies are needed to identify reasons for this variation and the potential impact on patient outcomes. PMID:26216324

  4. [Congenital Chagas disease in the city of Salta, Argentina].

    PubMed

    Zaidenberg, M; Segovia, A

    1993-01-01

    The immune response to Trypanosoma cruzi was studied in our hospital in 937 pregnant women(PW) and their 929 newborns(NB), group I; 4 NB from this center not included in the first group, group II and 35 NB derived from other centers, group III. Two positive results among indirect hemagglutination (IHA), complement fixation(CF) and indirect hemagglutination(IHA), complement fixation(CF) and indirect immunofluorescence(IIF) tests were considered as the criterion of previous infection with T. cruzi in PW. The presence of T. cruzi in blood, explored in fresh smears by serial micro-hematocrite and/or by xenodiagnosis, was the only criterion to define infection in NB. All NB were followed up by direct agglutination (DA) with or without 2 mercaptoethanol (DA-w2ME, DA-wo2ME) and IIF in order to establish the specific antibody kinetics. Clinical studies on NB with T. cruzi infection include routine laboratory tests. Benznidazole (3 to 7 mg/kg/day) and, in 1 case, nifurtimox (15 mg/kg/day) were employed as therapeutic agents. T. cruzi infection was confirmed in 149 PW(15.9%), table I. These chagasic mothers delivered 6 chagasic NB (CCHD-NB), (4%). Diagnosis of congenital Chagas' disease accounted for a total of 12 NB out of the 968 studied. 4 out of them were positive by both microhematocrite and blood smears and 7 by microhematocrite alone. Xenodiagnosis was performed in 2 NB resulting positive in both cases, table II. The most usual clinical findings included hepatomegaly (present in all cases), splenomegaly 8/12, jaundice 10/12 and prematurity 5/12, table 3. Laboratory findings showed anemia to be of hypochromic microcytic type in all cases.(ABSTRACT TRUNCATED AT 250 WORDS)

  5. Cyanotic Congenital Heart Disease The Coronary Arterial Circulation

    PubMed Central

    Perloff, Joseph K

    2012-01-01

    Background: The coronary circulation in cyanotic congenital heart disease (CCHD) includes the extramural coronary arteries, basal coronary blood flow, flow reserve, the coronary microcirculation, and coronary atherogenesis. Methods: Coronary arteriograms were analyzed in 59 adults with CCHD. Dilated extramural coronaries were examined histologically in six patients. Basal coronary blood flow was determined with N-13 positron emission tomography in 14 patients and in 10 controls. Hyperemic flow was induced by intravenous dipyridamole pharmacologic stress. Immunostaining against SM alpha-actin permitted microcirculatory morphometric analysis. Non-fasting total cholesterols were retrieved in 279 patients divided into four groups: Group A---143 cyanotic unoperated, Group B---47 rendered acyanotic by reparative surgery, Group C---41 acyanotic unoperated, Group D---48 acyanotic before and after operation. Results: Extramural coronary arteries were mildly or moderately dilated to ectatic in 49/59 angiograms. Histologic examination disclosed loss of medial smooth muscle, increased medial collagen, and duplication of internal elastic lamina. Basal coronary flow was appreciably increased. Hyperemic flow was comparable to controls. Remodeling of the microcirculation was based upon coronary arteriolar length, volume and surface densities. Coronary atherosclerosis was absent in both the arteriograms and the necropsy specimens. Conclusions: Extramural coronary arteries in CCHD dilate in response to endothelial vasodilator substances supplemented by mural attenuation caused by medial abnormalities. Basal coronary flow was appreciably increased, but hyperemic flow was normal. Remodeling of the microcirculation was responsible for preservation of flow reserve. The coronaries were atheroma-free because of the salutory effects of hypocholesterolemia, hypoxemia, upregulated nitric oxide, low platelet counts, and hyperbilirubinrmia. PMID:22845810

  6. Pulmonary Hypoplasia Associated with Congenital Heart Diseases: A Fetal Study

    PubMed Central

    Ruchonnet-Metrailler, Isabelle; Bessieres, Bettina; Bonnet, Damien; Vibhushan, Shamila; Delacourt, Christophe

    2014-01-01

    Background Abnormalities of the fetal pulmonary vasculature may affect lung morphogenesis. Postnatal studies have suggested that pulmonary hypoplasia (PH) may be associated with congenital heart diseases (CHDs). Objective To determine the prevalence of PH associated with CHDs, and to evaluate whether CHDs with right outflow obstruction were associated with the highest risk of lung growth impairment. Methods Between January 2006 and December 2010, fetuses with CHD obtained following the termination of pregnancies due to fetal abnormalities were examined in a prospective manner for the detection of heart and lung defects. CHDs were classified into five pathophysiological groups. Lung weight (LW), body weight (BW), and LW/BW ratio were analyzed for each case. The expression of CD31 and VEGF in the lung was evaluated by immunohistochemistry. Results Fetuses with CHDs and right outflow obstruction had significantly lower LW for a given BW, and significantly lower LW/BW ratios for a given gestational age. When defining PH as a fetal LW/BW ratio <0.015 before 28 weeks, and <0.012 after 28 weeks, PH was detected in 15 of the 119 fetuses analyzed (13%). It was significantly associated with CHD with right outflow obstruction, independently of chromosomal abnormalities and associated extracardiac abnormalities (p<0.03). Right outflow obstruction was detected in 60% of the fetuses with CHD and PH, but in only 32% of those with CHD but no PH. In fetuses with right outflow obstruction, no difference was observed between those with PH and those without PH, in terms of the ratio of pulmonary artery diameter to aortic diameter, lung CD31 expression, or lung VEGF expression. Conclusion CHDs with right outflow obstruction are a significant risk factor for prenatally acquired PH. The occurrence of fetal PH is not correlated with abnormalities of the pulmonary vasculature, suggesting the involvement of perfusion-independent mechanisms. PMID:24699523

  7. [Treatment strategy for patients with extracardiac structural anomalies and congenital heart disease].

    PubMed

    Murakami, Arata

    2011-07-01

    The surgical treatment of patients with extracardiac structural anomalies and congenital heart disease often carries major risk and remains a challenging field. An appropriate, solid treatment plan should be developed during the early phase with interactive intelligence sharing between a pediatric surgery team and congenital heart surgery team. As the top of the chain of command, the role of a neonatologist is important. This article reviews the history of surgery for congenital heart disease and the progress of the Japan Congenital Cardiovascular Surgery Database. Finally, as an example of a combination of diseases, the clinical course and intelligence sharing during treatment of a patient with biliary atresia requiring living-donor liver transplantation and hypoplastic left heart syndrome is reported. The National Quality Forum provided structural measures, process measures, and outcome measures for congenital heart surgery. Structural measures provided by the National Quality Forum included participation in a preoperative multidisciplinary conference. To improve the outcome of surgical treatment of patients with congenital heart disease and extracardiac structural anomalies, the importance of a preoperative multidisciplinary conference involving not only pediatric surgeons, pediatric cardiologists, and pediatric cardiac surgeons but also neonatologists, anesthesiologists, and nurses cannot be overemphasized.

  8. Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature.

    PubMed

    Offori, T W; Platt, C C; Stephens, M; Hopkinson, G B

    1993-03-01

    In cases of congenital lymphoedema the finding of ulceration, violaceous nodules or papules, or apparent traumatic ecchymoses should act as a diagnostic beacon warning of dangers. A case is reported of a high-grade angiosarcoma developing in a patient with congenital hereditary lymphoedema (Milroy's disease). This is the second paper to report this complication, the third case report and the first case in which the diagnosis is substantiated by immunohistochemistry and lectin histochemistry. A review of cases of angiosarcoma complicating congenital hereditary and non-hereditary lymphoedema is also presented.

  9. Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

    PubMed

    Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann

    2016-01-01

    Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.

  10. Pregnancy and contraception in young women with congenital heart disease: General considerations

    PubMed Central

    Wald, Rachel M; Sermer, Mathew; Colman, Jack M

    2011-01-01

    Young women with heart disease are increasingly being seen in obstetrical referral centres owing, in large part, to the dramatic improvements in survival of young adults with congenital heart disease in recent years. Although pregnancies in most women with heart disease result in favourable outcomes, there are important exceptions that must be recognized. These exceptions pose significant mortality risk to the mother and/or the fetus. The present article outlines cardiovascular adaptations to pregnancy, general outcomes and management considerations for practitioners caring for pregnant young women with congenital heart disease. A lesion-specific review is published in a complementary article. PMID:22468131

  11. Quality of Life and Congenital Heart Disease in Childhood and Adolescence

    PubMed Central

    Bertoletti, Juliana; Marx, Giovana Caroline; Hattge, Sérgio Pedro; Pellanda, Lucia Campos

    2014-01-01

    Advances in cardiac surgery techniques and early diagnosis have enabled the increased survival of individuals with congenital heart disease. The investigation of the quality of life in children and adolescents with congenital heart disease provides complementary information to clinical data that can assist in decision making on the part of health professionals. Although many studies have been conducted to investigate the quality of life of children and adolescents with congenital heart disease, the results prove to be contradictory; while some studies show that congenital heart disease can impact the quality of life, others describe a better perception of quality of life among children and adolescents who suffer from the disease when compared with healthy control subjects. The purpose of this study is to review the literature on the assessment of health related quality of life in children and adolescents with congenital heart disease, in order to systematize the existing knowledge on this topic today. It is observed that research seeks to investigate aspects of personality in cardiac patients, their coping strategies used and perceived social support, aiming at better understanding the association of these variables with the level of quality of life in this population. PMID:24676375

  12. Congenital Heart Diseases in Adults: A Review of Echocardiogram Records in Enugu, South-East Nigeria

    PubMed Central

    Ejim, EC; Anisiuba, BC; Oguanobi, NI; Ubani-Ukoma, BC; Nwaneli, UC; Ugwu, C; Ike, SO

    2014-01-01

    Background: Congenital abnormalities of the heart and cardiovascular system are reported in almost 1% of live births, and about half of these children need medical or surgical help in infancy. In the first decade, a further 25% require surgery to maintain or improve their life. Only 10% survive to adolescence without treatment. Of these 10%, however, many live a normal life for years before their abnormality is discovered. Aim: The aim of this study was to find the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, and to determine whether there are any gender differences in frequency. Materials and Methods: The consecutive echocardiogram reports of 5058 adults done over a period of 9 years (2003-2012) were retrospectively reviewed. All adults who had congenital anomaly on transthoracic echocardiography were included in the study. Results: Congenital heart diseases were found in 115 adults representing 2.5% of the adult population (115/4539). The most common congenital anomalies were ventricular septal defects (VSD) - 31.3%, (36/115), atrial septal defects - 28.7% (33/115) and tetralogy of fallot - 10.4% (12/115). Conclusion: VSD are the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, Nigeria. PMID:25221697

  13. Incidence of Congenital Heart Disease: The 9-Year Experience of the Guangdong Registry of Congenital Heart Disease, China

    PubMed Central

    Zhuang, Jian; Chen, Guanchun; Mai, Jinzhuang; Guo, Xiaoling; Ou, Yanqiu; Chen, Jimei; Gong, Wei; Gao, Xiangmin; Wu, Yong; Nie, Zhiqiang

    2016-01-01

    There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD) has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for single lesion and the most common subtypes (e.g., ventricular or atrial septal defect, patent ductus arteriosus). There were no increases found for multiple lesions or more complex subtypes. The proportion of CHD cases that were detected early (e.g., 1 week) increased over time. The incidence of CHD stabilized in 2010–2012 with the average cumulative incidences of 9.7, 9.9, and 11.1 per 1,000 live births at 1 week, 1 month, and 1 year, respectively. The incidences of CHD subtypes were comparable with recent international results. The data did not support previous reports that Asian children have a higher incidence of pulmonary outflow obstructions and lower incidence of transposition of the great arteries. However, there was a lower incidence of left ventricular outflow tract obstructions observed in our series. The increase in CHD incidence observed over time was due to improved detection and diagnosis. The true incidence of CHD in China was approximately 11.1 per 1,000 live births, which is higher than previously reported. PMID:27409588

  14. Basic imaging in congenital heart disease. 3rd Ed

    SciTech Connect

    Swischuk, L.E.; Sapire, D.W.

    1986-01-01

    The book retains its previous format with chapters on embryology, plain film interpretation, classification of pulmonary vascular patterns, cardiac malpositions and vascular anomalies, and illustrative cases. The book is organized with an abundance of illustrative figures, diagrams, and image reproductions. These include plain chest radiographs, angiograms, echocardiograms, and MR images. The authors present the pathophysiology and imaging of congenital heart lesions.

  15. Anticoagulation in adults with congenital heart disease: The who, the when and the how?

    PubMed

    Jensen, A S; Idorn, L; Nørager, B; Vejlstrup, N; Sondergaard, L

    2015-03-01

    Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events. It is difficult to use treatment algorithms from the general adult population with acquired heart disease in this heterogeneous population due to special conditions such as myocardial scarring after previous surgery, atypical atrial flutter, prothrombotic conditions and the presence of interatrial shunts. Furthermore, there is a lack of scientific evidence regarding how to prevent thromboembolic events with anticoagulation in adults with congenital heart disease. The aim of this paper is to review the current literature pertaining to anticoagulation in adults with congenital heart disease and hence enable recommendations for which patients are likely to benefit from which anticoagulation treatments, when they should be considered and how these would be carried out.

  16. Late Detection of Critical Congenital Heart Disease Among US Infants

    PubMed Central

    Peterson, Cora; Ailes, Elizabeth; Riehle-Colarusso, Tiffany; Oster, Matthew E.; Olney, Richard S.; Cassell, Cynthia H.; Fixler, David E.; Carmichael, Suzan L.; Shaw, Gary M.; Gilboa, Suzanne M.

    2015-01-01

    IMPORTANCE Critical congenital heart disease (CCHD) was added to the Recommended Uniform Screening Panel for Newborns in the United States in 2011. Many states have recently adopted or are considering requirements for universal CCHD screening through pulse oximetry in birth hospitals. Limited previous research is directly applicable to the question of how many US infants with CCHD might be identified through screening. OBJECTIVES To estimate the proportion of US infants with late detection of CCHD (>3 days after birth) based on existing clinical practice and to investigate factors associated with late detection. DESIGN, SETTING, AND PARTICIPANTS Descriptive and multivariable analysis. Data were obtained from a multisite population-based study of birth defects in the United States, the National Birth Defects Prevention Study (NBDPS). We included all live-born infants with estimated dates of delivery from January 1, 1998, through December 31, 2007, and nonsyndromic, clinically verified CCHD conditions potentially detectable through screening via pulse oximetry. MAIN OUTCOMES AND MEASURES The main outcome measure was the proportion of infants with late detection of CCHD through echocardiography or at autopsy under the assumption that universal screening at birth hospitals might reduce the number of such late diagnoses. Secondary outcome measures included prevalence ratios for associations between selected demographic and clinical factors and late detection of CCHD. RESULTS Of 3746 live-born infants with nonsyndromic CCHD, late detection occurred in 1106 (29.5% [95%CI, 28.1%–31.0%]), including 6 (0.2%) (0.1% –0.4%) first receiving a diagnosis at autopsy more than 3 days after birth. Late detection varied by CCHD type from 9 of 120 infants (7.5%[95%CI, 3.5%–13.8%]) with pulmonary atresia to 497 of 801 (62.0% [58.7%–65.4%]) with coarctation of the aorta. In multivariable analysis, late detection varied significantly by CCHD type and study site, and infants with

  17. Congenital heart disease and rheumatic heart disease in Africa: recent advances and current priorities

    PubMed Central

    Zühlke, Liesl; Mirabel, Mariana; Marijon, Eloi

    2013-01-01

    Africa has one of the highest prevalence of heart diseases in children and young adults, including congenital heart disease (CHD) and rheumatic heart disease (RHD). We present here an extensive review of recent data from the African continent highlighting key studies and information regarding progress in CHD and RHD since 2005. Main findings include evidence that the CHD burden is underestimated mainly due to the poor outcome of African children with CHD. The interest in primary prevention for RHD has been recently re-emphasised, and new data are available regarding echocardiographic screening for subclinical RHD and initiation of secondary prevention. There is an urgent need for comprehensive service frameworks to improve access and level of care and services for patients, educational programmes to reinforce the importance of prevention and early diagnosis and a relevant research agenda focusing on the African context. PMID:23680886

  18. Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

    PubMed Central

    Yorifuji, T; Matsumura, M; Okuno, T; Shimizu, K; Sonomura, T; Muroi, J; Kuno, C; Takahashi, Y; Okuno, T

    1994-01-01

    We report on a Japanese family with hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease. The disease was apparently inherited as an autosomal dominant trait. The patients in this family had no major anomalies other than those of the heart and pancreas. To our knowledge, this combination has not previously been reported. Images PMID:8071961

  19. [Research advances on role of microRNAs in congenital heart diseases].

    PubMed

    Yan, Hua-Lin; Hua, Yi-Min

    2014-10-01

    MicroRNAs (miRNAs) are a class of small non-coding RNAs, which mainly regulate gene expression through post-transcriptional process. They are highly conserved, tissue-specific and highly specific in miRNA-binding on 3'-untranslated regions. MicroRNAs have been identified as crucial regulators in myocardial cell proliferation, differentiation and apoptosis, migration of cardiac neural crest cells, cardiac morphogenesis and cardiac patterning processes, which may provide a new insight into the research on developmental mechanism of congenital heart diseases. The research on miRNAs in congenital heart diseases includes clinical research and animal experiments. This article reviews two types of research advances, the mechanism of congenital heart diseases, and the current status and limitation of the domestic reports.

  20. Down syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis

    SciTech Connect

    Korenburg, J.R. ); Bradley, C.; Disteche, C.M. )

    1992-02-01

    Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, and increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. The authors now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an 'overlap' region for the facial and some of the skeletal features. They report the clinical, cytogenetic, and molecular analysis of two patients. These studies provide the molecular basis for the construction of a DS phenotypic map and focus the search for genes responsible for the physical features, congenital heart disease, and duodenal stenosis of DS.

  1. Transitioning the young adult with congenital heart disease for life-long medical care.

    PubMed

    Fernandes, Susan M; Landzberg, Michael J

    2004-12-01

    Guidelines for the successful orchestration of transitioning of the adolescent and young and older adult patient with congenital heart disease to a health care system appropriate for their long-term congenital heart disease care and counseling appear necessary to improve patient and family confidence, education, therapy, life quality, and survival outcomes. Schema for care organization and delivery for adult patients with congenital heart disease remain primitive and largely unimplemented. The presence of a strong central care oversight organization and the establishment of a multi-institutional database to assist in assessment of care outcomes and guidelines appears requisite to these needs and for the establishment of transitioning guidelines for these patients as they assume a greater and deeper shared control of their futures with their caregivers.

  2. Comparative hemodynamic effect of metrizamide and Renografin 76 in infants with congenital heart disease

    SciTech Connect

    Baltaxe, H.A.; Mooring, P.; Kugler, J.; Pinsky, W.; Chu, W.K.

    1983-06-01

    Twenty patients under the age of 2 years with suspected congenital heart disease received alternately Renografin 76 and metrizamide for angiocardiography. The dose was 2.0 ml/kg per injection for both contrast media into the left ventricle. Metrizamide induced slightly lesser change in heart rate, peak systolic pressure, and peak end-diastolic pressures. Serum osmolality, hematocrit, and serum electrolytes were affected equally by the contrast media. Metrizamide was well tolerated by the neonates with congenital heart disease and its radiopacity was adequate for diagnostic purposes. At the doses administered, metrizamide does not seem to have any great advantage over Renografin 76 for angiocardiography in infants with severe congenital heart disease.

  3. Psychosocial issues affecting adults with congenital heart disease: one patient's perspective.

    PubMed

    Livecchi, Tracy A

    2004-12-01

    This article addresses a number of psychosocial issues that advance practice nurses and other health care providers should be aware of when working with patients who have congenital heart disease. If not properly addressed, particularly during adolescence, these issues can have a strong impact on a person's medical care and over-all quality of life. This article includes information from medical literature, conversations with adult patients, and my own experiences as both a patient with congenital heart disease and as a clinical social worker.

  4. Transfer to Adult Care--Experiences of Young Adults with Congenital Heart Disease.

    PubMed

    Asp, Ann; Bratt, Ewa-Lena; Bramhagen, Ann-Cathrine

    2015-01-01

    More than 90% of children born with congenital heart disease survive into adulthood due to successes of cardiac surgery and medical management. Interviews with 16 young adults with congenital heart disease to explore their experiences of transfer from pediatric to adult care were performed. The analysis identified five themes; Feeling secure during the transfer process, Experiencing trust in the care, Expecting to be involved, Assuming responsibility for one's health is a process and Lack of knowledge leads to uncertainty. In conclusion; a structured and gradual transfer process was necessary to enable the informants to shoulder the responsibility for self-care.

  5. Anatomic diagnosis of congenital heart disease. A practical approach based on the sequentiality principle.

    PubMed

    Cervantes-Salazar, Jorge; Curi-Curi, Pedro; Ramírez-Marroquín, Samuel; Calderón-Colmenero, Juan; Munoz-Castellanos, Luis

    2010-01-01

    Based on the sequentiality principle, this review proposes a practical method that allows the systematization of the anatomic diagnosis of congenital heart disease. We emphasize the need to use sequential connection between the different cardiac segments: atria, ventricles and great arteries. Five ordered steps are defined, which include determination of atrial situs and of the connection features between the ventricles and the great arteries. Related lesions and some additional special features are a second stage in the sequential analysis of congenital heart disease, which is also important for the integral diagnosis.

  6. MR evaluation of cardiovascular physiology in congenital heart disease: flow and function.

    PubMed

    Weber, Oliver M; Higgins, Charles B

    2006-01-01

    Cardiovascular magnetic resonance (CMR) has become the method of choice in the evaluation of a number of questions in congenital heart disease. In addition to morphology, modern CMR techniques allow the visualization of function and flow in a temporally resolved manner. Among the pathologies where these methods play a major role are shunts, septal defects, aortic coarctation, anomalies of the pulmonary arteries, and valvular regurgitation. This paper explains the basics of functional and flow encoded CMR and discusses their application in the assessment of several types of congenital heart disease.

  7. [Rare diseases and their patient organization: the Hungarian Federation of People with Rare and Congenital Diseases].

    PubMed

    Pogány, Gábor

    2014-03-01

    The aim of the author is to discuss special issues of rare diseases, with emphasis on circumstances present in Hungary, including those leading to the foundation of the non-governmental organization, the Hungarian Federation of People with Rare and Congenital Diseases. The author briefly reviews the most important findings of current international surveys which have been performed with or without the involvement of member associations of the Hungarian Federation of People with Rare and Congenital Diseases. At the level of medical and social services in Hungary, it is still "incidental" to get to the appropriate expert or centre providing the diagnosis or treatment. It is difficult to find the still very few existing services due to the lack of suitable "pathways" and referrals. There are long delays in obtaining the first appointment, resulting in vulnerability and inequality along the regions. The overall consequence is the insufficiency or lack of access to medical and social services. There are also difficulties related to the supply of orphan medication and the long duration of hospitalization. At the level of patient organizations financial scarcity and uncertainty are typical, combined with inappropriate infrastructural background and human resources. The poor quality of organization of patient bodies along with insufficient cooperation among them are characteristic as well. The author concludes that a National Plan or Strategy is needed to improve the current fragmentation of services which would enable patients and health, social and educational professionals to provide and use the best care in the practice. This would ensure all patients with rare diseases to be diagnosed within a possible shortest time allowing access to the care and support needed in time resulting in a decrease in burden of families and society.

  8. Congenital Tuberculosis as a Result of Disseminated Maternal Disease: Case Report

    PubMed Central

    Trujillo-Honeysberg, Mónica; Diazgranados-Cuenca, Lucy

    2015-01-01

    Although tuberculosis is highly prevalent worldwide, congenital tuberculosis is one of the least common manifestations of the disease. The diagnosis is usually difficult because of the non-specific clinical presentation and the lack of awareness of maternal disease prior to pregnancy and delivery. We present the case of a preterm neonate with congenital tuberculosis, born to a previously healthy mother who had developed severe disseminated tuberculosis during her pregnancy. Once the diagnosis was confirmed in the mother, the congenital infection was confirmed by isolation of Mycobacterium tuberculosis in gastric aspirates, and positive polymerase chain reaction in a cerebrospinal fluid examination. Treatment for tuberculosis with a four-drug regimen resulted in an adequate clinical response in both the mother and infant. PMID:26508944

  9. [Role of the general practitioner or primary care physician in the management of adult congenital heart disease].

    PubMed

    Thambo, Jean-Benoît

    2013-03-01

    Congenital heart diseases are the most common inborn defect, occurring approximately 0.8% according to the last European Union count. This rate is stable for decades. Nowadays, up to 90% of children born with congenital heart diseases underwent surgical correction and reach adulthood, gratefully to the surgery and interventional cardiology advances, in conjunction to the post-surgery and following cares improvement. Both of this facts results to a growing population of adults with congenital heart diseases, actually exceeding the infant population. This arising population will lead general practitioners and primary care physicians to face more often this kind of patient. The needed cares are specifics, regarding the typical evolutions of this pathologies, as well as because congenital heart diseases wil impact other pathologies or usual cares. The need of an extended knowledge of the adult patients with congenital heart diseases is clearly emerging, and should lead the whole medical corps to work in close network. PMID:23687765

  10. Frequency of Congenital Heart Diseases in Prelingual Sensory-Neural Deaf Children

    PubMed Central

    Motasaddi Zarandy, Masoud; Mahmoudi, Mohammad Jafar; Malekzadeh, Iran; Nasirmohtaram, Sevil

    2016-01-01

    Introduction: Hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. Sensory-neural hearing loss (SNHL) accounts for more than 90% of all hearing loss. This disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. Given that congenital heart diseases are life-threatening, we decided to study the frequency of congenital heart diseases in children with congenital sensory-neural deafness. Materials and Methods: All children who had undergone cochlear implantation surgery due to SNHL and who had attended our hospital for speech therapy during 2008–2011 were evaluated by Doppler echocardiography. Results: Thirty-one children (15 boys and 16 girls) with a mean age of 55.70 months were examined, and underwent electrocardiography (ECG) and echocardiography. None of the children had any signs of heart problems in their medical records. Most of their heart examinations were normal, one patient had expiratory wheeze, four (12%) had mid-systolic click, and four (12%) had an intensified S1 sound. In echocardiography, 15 children (46%) had mitral valve prolapse (MVP) and two (6%) had minimal mitral regurgitation (MR). Mean ejection fraction (EF) was 69% and the mean fractional shortening (FS) was 38%. Conclusion: This study indicates the need for echocardiography and heart examinations in children with SNHL. PMID:27280096

  11. Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): A case report and literature review

    PubMed Central

    HAO, YABIN; HONG, XU; ZHAO, XINYAN

    2015-01-01

    Abernethy malformation is a rare congenital malformation defined by an extrahepatic portosystemic shunt. The majority of affected patients are young (<18 years of age) and experience various symptoms, including vomiting, jaundice, dyspnea and coma. The current study presents a case of Abernethy malformation in an asymptomatic adult male patient. The patient exhibited congenital absence of the portal vein, congenital heart disease (postoperative ventricular septal defect status), and multiple liver lesions, confirmed to be focal nodular hyperplasia by biopsy. Ultrasonography and magnetic resonance imaging findings revealing the liver lesions, type II congenital absence of the portal vein and the portosystemic shunt are presented. In addition, the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder are investigated by reviewing 101 previously reported cases. PMID:25624897

  12. Cardiac Hemodynamics in the Pathogenesis of Congenital Heart Disease and Aortic Valve Calcification

    NASA Astrophysics Data System (ADS)

    Nigam, Vishal

    2011-11-01

    An improved understanding of the roles of hemodynamic forces play in cardiac development and the pathogenesis of cardiac disease will have significant scientific and clinical impact. I will focus on the role of fluid dynamics in congenital heart disease and aortic valve calcification. Congenital heart defects are the most common form of birth defect. Aortic valve calcification/stenosis is the third leading cause of adult heart disease and the most common form of acquired valvular disease in developed countries. Given the high incidence of these diseases and their associated morbidity and mortality, the potential translational impact of an improved understanding of cardiac hemodynamic forces is very large. Division of Pediatric Cardiology, Rady Children's Hospital, San Diego

  13. Recreational scuba diving in patients with congenital heart disease: Time for new guidelines.

    PubMed

    Schleich, Jean-Marc; Schnell, Frédéric; Brouant, Benoît; Phan, Gerald; Lafay, Vincent; Bonnemains, Laurent; Bédossa, Marc

    2016-01-01

    The number of recreational scuba divers is steadily increasing. In its latest recommendations, the French Federation of Undersea Studies and Sports listed congenital heart disease as a formal and final contraindication to scuba diving. On the other hand, with the progress made in their management, the prognosis and quality of life of patients with congenital heart diseases have improved considerably, enabling them to engage in physical and sports endeavours, which are known to confer general health and psychological benefits. As a consequence, the ability of these patients to dive has become a regular and recurrent issue. We review the various types of scuba diving, the physical performance required for its practice, its effects on cardiovascular function and the elements that need to be considered before recommending whether it can be practiced safely at various levels of difficulty. Because of the diversity and broad heterogeneity of congenital heart diseases, a detailed evaluation of each patient's performance based on clinical criteria common to all congenital heart diseases is recommended.

  14. Recreational scuba diving in patients with congenital heart disease: Time for new guidelines.

    PubMed

    Schleich, Jean-Marc; Schnell, Frédéric; Brouant, Benoît; Phan, Gerald; Lafay, Vincent; Bonnemains, Laurent; Bédossa, Marc

    2016-01-01

    The number of recreational scuba divers is steadily increasing. In its latest recommendations, the French Federation of Undersea Studies and Sports listed congenital heart disease as a formal and final contraindication to scuba diving. On the other hand, with the progress made in their management, the prognosis and quality of life of patients with congenital heart diseases have improved considerably, enabling them to engage in physical and sports endeavours, which are known to confer general health and psychological benefits. As a consequence, the ability of these patients to dive has become a regular and recurrent issue. We review the various types of scuba diving, the physical performance required for its practice, its effects on cardiovascular function and the elements that need to be considered before recommending whether it can be practiced safely at various levels of difficulty. Because of the diversity and broad heterogeneity of congenital heart diseases, a detailed evaluation of each patient's performance based on clinical criteria common to all congenital heart diseases is recommended. PMID:27364729

  15. Understanding age-based transition needs: Perspectives from adolescents and adults with congenital heart disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The purpose of this study was to explore the transition process in congenital heart disease (CHD) care through the perceived needs and concerns of adolescents (pretransition) and the experiential insight from adults (post-transition), in order to inform future transition initiatives and information ...

  16. Exercise prescription in adults with congenital heart disease: a long way to go

    PubMed Central

    Swan, L; Hillis, W

    2000-01-01

    OBJECTIVE—To determine if appropriate advice had been given to adults with congenital heart disease regarding safe and effective exercise, and to assess pre-existing misconceptions of the potential benefits and dangers of exercise.
DESIGN—An anonymous self assessment questionnaire.
SETTING—A tertiary referral clinic.
PATIENTS—99 adults (57 men, 42 women) with congenital heart disease, mean age 25.6 years.
MAIN OUTCOME MEASURES—The extent and nature of exercise advice given over previous years; a measure of current activity level compared with the American Heart Association recommendations; and an assessment of exercise limiting symptoms and a description of barriers to further exercise.
RESULTS—44% of the cohort assumed all exercise was safe despite their cardiac disease. A health care professional had only raised the issue of specific exercise advice in 28 cases. Of those given instruction it was more common to receive prohibitive advice (30%) than to be encouraged to take more exercise (19%). Despite this 61% were involved in some form of at least light exercise. The most prevalent barriers to exercise were current symptoms (32.3%), lack of interest in exercise (24.2%), and health fears (16.1%).
CONCLUSIONS—The education of adults with congenital heart disease regarding exercise and its potential benefits and limitations is suboptimal even in a specialist clinic.


Keywords: congenital heart defects; exercise prescription PMID:10814630

  17. Risk Factors for Gross Motor Dysfunction in Infants with Congenital Heart Disease

    ERIC Educational Resources Information Center

    Long, Suzanne H.; Eldridge, Bev J.; Galea, Mary P.; Harris, Susan R.

    2011-01-01

    Infants with congenital heart disease (CHD) that is severe enough to require early surgery are at risk for cognitive and motor delays, as well as musculoskeletal impairments, and are best managed by an interdisciplinary team during their hospital stay and after discharge. The purpose of this article is to review some of the risk factors associated…

  18. Congenital Chagas' disease transmission in the United States: Diagnosis in adulthood.

    PubMed

    Murillo, Jorge; Bofill, Lina M; Bolivar, Hector; Torres-Viera, Carlos; Urbina, Julio A; Benhayon, Daniel; Torres, Jaime R

    2016-01-01

    Two brothers with congenitally-acquired Chagas' disease (CD) diagnosed during adulthood are reported. The patients were born in the USA to a mother from Bolivia who on subsequent assessment was found to be serologically positive for Trypanosoma cruzi. Serologic screening of all pregnant women who migrated from countries with endemic CD is strongly recommended. PMID:27516969

  19. Physical Activity and Sport Participation in Youth with Congenital Heart Disease: Perceptions of Children and Parents

    ERIC Educational Resources Information Center

    Moola, Fiona; Faulkner, Guy E. J.; Kirsh, Joel A.; Kilburn, Jennifer

    2008-01-01

    This study explored perceptions toward physical activity and sport in the lives of youth with congenital heart disease. Thirteen cardiac participants were interviewed in the presence of their parents, and a process of inductive analysis was conducted. Sport was not considered a valued pursuit despite the belief that it is essential for the…

  20. Intellectual Development of Infants, Children and Adolescents with Congenital Heart Disease

    ERIC Educational Resources Information Center

    Wray, Jo

    2006-01-01

    Cardiac disease is the most common congenital defect in children, affecting between 3 and 10 in every 1000 live births. While significant advances in medical and surgical management have resulted in increasing numbers of survivors, it is also recognized that there is a growing population of children living with neurological impairment and lowered…

  1. Emotional and Behavioural Problems in Children and Adolescents with Congenital Heart Disease

    ERIC Educational Resources Information Center

    Johnson, Beena; Francis, Johnson

    2005-01-01

    Major physical illnesses usually have an impact on the psychological well-being of any individual. An illness of early onset, with necessity of frequent diagnostic and therapeutic interventions can adversely affect the emotional balance and behavioural adaptation of children and adolescents. This is applicable for congenital heart disease,…

  2. Analysis of outcomes for congenital cardiac disease: can we do better?

    PubMed

    Jacobs, Jeffrey P; Wernovsky, Gil; Elliott, Martin J

    2007-09-01

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for the analysis of outcomes of treatments for patients with congenitally malformed hearts. We will consider the current state of analysis of outcomes, lay out some principles which might make it possible to achieve life-long monitoring and follow-up using our databases, and describe the next steps those involved in the care of these patients need to take in order to achieve these objectives. In order to perform meaningful multi-institutional analyses, we suggest that any database must incorporate the following six essential elements: use of a common language and nomenclature, use of an established uniform core dataset for collection of information, incorporation of a mechanism of evaluating case complexity, availability of a mechanism to assure and verify the completeness and accuracy of the data collected, collaboration between medical and surgical subspecialties, and standardised protocols for life-long follow-up. During the 1990s, both The European Association for Cardio-Thoracic Surgery and The Society of Thoracic Surgeons created databases to assess the outcomes of congenital cardiac surgery. Beginning in 1998, these two organizations collaborated to create the International Congenital Heart Surgery Nomenclature and Database Project. By 2000, a common nomenclature, along with a common core minimal dataset, were adopted by The European Association for Cardio-Thoracic Surgery and The Society of Thoracic Surgeons, and published in the Annals of Thoracic Surgery. In 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. This committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease. The working component of this international nomenclature society has been The International Working Group for Mapping and Coding

  3. Use of a Novel Chagas Urine Nanoparticle Test (Chunap) for Diagnosis of Congenital Chagas Disease

    PubMed Central

    Castro-Sesquen, Yagahira E.; Gilman, Robert H.; Galdos-Cardenas, Gerson; Ferrufino, Lisbeth; Sánchez, Gerardo; Valencia Ayala, Edward; Liotta, Lance; Bern, Caryn; Luchini, Alessandra

    2014-01-01

    Background Detection of congenital T. cruzi transmission is considered one of the pillars of control programs of Chagas disease. Congenital transmission accounts for 25% of new infections with an estimated 15,000 infected infants per year. Current programs to detect congenital Chagas disease in Latin America utilize microscopy early in life and serology after 6 months. These programs suffer from low sensitivity by microscopy and high loss to follow-up later in infancy. We developed a Chagas urine nanoparticle test (Chunap) to concentrate, preserve and detect T. cruzi antigens in urine for early, non-invasive diagnosis of congenital Chagas disease. Methodology/Principal Findings This is a proof-of-concept study of Chunap for the early diagnosis of congenital Chagas disease. Poly N-isopropylacrylamide nano-particles functionalized with trypan blue were synthesized by precipitation polymerization and characterized with photon correlation spectroscopy. We evaluated the ability of the nanoparticles to capture, concentrate and preserve T. cruzi antigens. Urine samples from congenitally infected and uninfected infants were then concentrated using these nanoparticles. The antigens were eluted and detected by Western Blot using a monoclonal antibody against T. cruzi lipophosphoglycan. The nanoparticles concentrate T. cruzi antigens by 100 fold (western blot detection limit decreased from 50 ng/ml to 0.5 ng/ml). The sensitivity of Chunap in a single specimen at one month of age was 91.3% (21/23, 95% CI: 71.92%–98.68%), comparable to PCR in two specimens at 0 and 1 month (91.3%) and significantly higher than microscopy in two specimens (34.8%, 95% CI: 16.42%–57.26%). Chunap specificity was 96.5% (71/74 endemic, 12/12 non-endemic specimens). Particle-sequestered T. cruzi antigens were protected from trypsin digestion. Conclusion/Significance Chunap has the potential to be developed into a simple and sensitive test for the early diagnosis of congenital Chagas disease. PMID

  4. Report of the National Heart, Lung, and Blood Institute Working Group: An Integrated Network for Congenital Heart Disease Research.

    PubMed

    Pasquali, Sara K; Jacobs, Jeffrey P; Farber, Gregory K; Bertoch, David; Blume, Elizabeth D; Burns, Kristin M; Campbell, Robert; Chang, Anthony C; Chung, Wendy K; Riehle-Colarusso, Tiffany; Curtis, Lesley H; Forrest, Christopher B; Gaynor, William J; Gaies, Michael G; Go, Alan S; Henchey, Paul; Martin, Gerard R; Pearson, Gail; Pemberton, Victoria L; Schwartz, Steven M; Vincent, Robert; Kaltman, Jonathan R

    2016-04-01

    The National Heart, Lung, and Blood Institute convened a working group in January 2015 to explore issues related to an integrated data network for congenital heart disease research. The overall goal was to develop a common vision for how the rapidly increasing volumes of data captured across numerous sources can be managed, integrated, and analyzed to improve care and outcomes. This report summarizes the current landscape of congenital heart disease data, data integration methodologies used across other fields, key considerations for data integration models in congenital heart disease, and the short- and long-term vision and recommendations made by the working group.

  5. Brain volumes predict neurodevelopment in adolescents after surgery for congenital heart disease.

    PubMed

    von Rhein, Michael; Buchmann, Andreas; Hagmann, Cornelia; Huber, Reto; Klaver, Peter; Knirsch, Walter; Latal, Beatrice

    2014-01-01

    Patients with complex congenital heart disease are at risk for neurodevelopmental impairments. Evidence suggests that brain maturation can be delayed and pre- and postoperative brain injury may occur, and there is limited information on the long-term effect of congenital heart disease on brain development and function in adolescent patients. At a mean age of 13.8 years, 39 adolescent survivors of childhood cardiopulmonary bypass surgery with no structural brain lesions evident through conventional cerebral magnetic resonance imaging and 32 healthy control subjects underwent extensive neurodevelopmental assessment and cerebral magnetic resonance imaging. Cerebral scans were analysed quantitatively using surface-based and voxel-based morphometry. Compared with control subjects, patients had lower total brain (P = 0.003), white matter (P = 0.004) and cortical grey matter (P = 0.005) volumes, whereas cerebrospinal fluid volumes were not different. Regional brain volume reduction ranged from 5.3% (cortical grey matter) to 11% (corpus callosum). Adolescents with cyanotic heart disease showed more brain volume loss than those with acyanotic heart disease, particularly in the white matter, thalami, hippocampi and corpus callosum (all P-values < 0.05). Brain volume reduction correlated significantly with cognitive, motor and executive functions (grey matter: P < 0.05, white matter: P < 0.01). Our findings suggest that there are long-lasting cerebral changes in adolescent survivors of cardiopulmonary bypass surgery for congenital heart disease and that these changes are associated with functional outcome.

  6. Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving.

    PubMed

    Wali, Yasser; Beshlawi, Ismail; Fawaz, Naglaa; Alkhayat, Aisha; Zalabany, Mahmoud; Elshinawy, Mohamed; Al-Kindi, Salam; Al-Rawas, Abdul Hakim A; Klein, Christoph

    2012-09-01

    We report an Omani family in whom the propositus had a rare coexistence of sickle cell disease and severe congenital neutropenia associated with a mutation in ELANE. In contrast to his siblings with sickle cell disease, the severity of HbSS-associated complications such as painful crises and acute chest syndrome was significantly reduced. His course of the disease had markedly worsened after initiating G-CSF therapy. These clinical observations suggest that neutropenia may ameliorate inflammatory responses and thus display a modulating factor with respect to the clinical course of sickle cell disease.

  7. Radiologic evaluation of coronary artery disease in adults with congenital heart disease.

    PubMed

    Valenzuela, David M; Ordovas, Karen G

    2016-01-01

    Improved surgical and medical therapy have prolonged survival in patients with congenital heart disease (CHD) such that general medical conditions like coronary artery disease (CAD) are now the main determinants of mortality. A summary of the association of CAD with CHD, as well as a discussion of the radiologic evaluation of the coronary arteries in adults with CHD is described herein. Cross sectional imaging to evaluate CAD in adults with CHD should follow the same appropriateness criteria as gender and aged matched patients without CHD. Coronary CT imaging may be particularly valuable in evaluating the coronary arteries in this patient population as invasive coronary angiography may prove challenging secondary to complicated or unconventional anatomy of the coronary arteries. Further, typical methods for evaluating CAD such as stress or echocardiography may be impractical in adults with CHD. Finally, delineating the anatomic relationship of the coronary arteries and their relationship with the sternum, chest wall, conduits, grafts, and valves is highly recommended in patients with CHD prior to reintervention to avoid iatrogenic complications.

  8. Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease

    PubMed Central

    Diaz, Lars J.; Leirgul, Elisabeth; Boyd, Heather A.; Priest, James; Mathiesen, Elisabeth R.; Quertermous, Thomas; Wohlfahrt, Jan; Melbye, Mads

    2016-01-01

    Background— Maternal diabetes mellitus is associated with an increased risk of offspring congenital heart defects (CHD); however, the causal mechanism is poorly understood. We further investigated this association in a Danish nationwide cohort. Methods and Results— In a national cohort study, we identified 2 025 727 persons born from 1978 to 2011; among them were 7296 (0.36%) persons exposed to maternal pregestational diabetes mellitus. Pregestational diabetes mellitus was identified by using the National Patient Register and individual-level information on all prescriptions filled in Danish pharmacies. Persons with CHD (n=16 325) were assigned to embryologically related cardiac phenotypes. The CHD prevalence in the offspring of mothers with pregestational diabetes mellitus was 318 per 10 000 live births (n=232) in comparison with a baseline risk of 80 per 10 000; the adjusted relative risk for CHD was 4.00 (95% confidence interval, 3.51–4.53). The association was not modified by year of birth, maternal age at diabetes onset, or diabetes duration, and CHD risks associated with type 1 (insulin-dependent) and type 2 (insulin-independent) diabetes mellitus did not differ significantly. Persons born to women with previous acute diabetes complications had a higher CHD risk than those exposed to maternal diabetes mellitus without complications (relative risk, 7.62; 95% confidence interval, 5.23–10.6, and relative risk, 3.49; 95% confidence interval, 2.91–4.13, respectively; P=0.0004). All specific CHD phenotypes were associated with maternal pregestational diabetes mellitus (relative risk range, 2.74–13.8). Conclusions— The profoundly increased CHD risk conferred by maternal pregestational diabetes mellitus neither changed over time nor differed by diabetes subtype. The association with acute pregestational diabetes complications was particularly strong, suggesting a role for glucose in the causal pathway. PMID:27166384

  9. 2013 update on congenital heart disease, clinical cardiology, heart failure, and heart transplant.

    PubMed

    Subirana, M Teresa; Barón-Esquivias, Gonzalo; Manito, Nicolás; Oliver, José M; Ripoll, Tomás; Lambert, Jose Luis; Zunzunegui, José L; Bover, Ramon; García-Pinilla, José Manuel

    2014-03-01

    This article presents the most relevant developments in 2013 in 3 key areas of cardiology: congenital heart disease, clinical cardiology, and heart failure and transplant. Within the area of congenital heart disease, we reviewed contributions related to sudden death in adult congenital heart disease, the importance of specific echocardiographic parameters in assessing the systemic right ventricle, problems in patients with repaired tetralogy of Fallot and indication for pulmonary valve replacement, and confirmation of the role of specific factors in the selection of candidates for Fontan surgery. The most recent publications in clinical cardiology include a study by a European working group on correct diagnostic work-up in cardiomyopathies, studies on the cost-effectiveness of percutaneous aortic valve implantation, a consensus document on the management of type B aortic dissection, and guidelines on aortic valve and ascending aortic disease. The most noteworthy developments in heart failure and transplantation include new American guidelines on heart failure, therapeutic advances in acute heart failure (serelaxin), the management of comorbidities such as iron deficiency, risk assessment using new biomarkers, and advances in ventricular assist devices.

  10. Anxiety determinants in mothers of children with congenital heart diseases undergoing cardiac surgery

    PubMed Central

    Rahimianfar, Ali Akbar; Forouzannia, Seyed Khalil; Sarebanhassanabadi, Mohammadtaghi; Dehghani, Hamide; Namayandeh, Syedeh Mahdieh; Khavary, Zohre; Rahimianfar, Fatemeh; Aghbageri, Hamid

    2015-01-01

    Background: The infants with congenital cardiovascular diseases are faced with too much problems in the case of their ongoing life. Mothers’ stress investigation would be important because can receive the stress from his parents. The aim of the following study was determined anxiety in mothers of children undergoing cardiac surgery. Materials and Methods: The present study was conducted by an analytical study on 69 infants’ mothers who were operated due to their cardiovascular abnormalities in Yazd Afshar Hospital (2012). In this study, some demographic information and influential factors were recorded germane to mothers’ stress, including residential location, history of infant hospitalization or congenital disease as well as some questions in the case of stimuli of the hospital environment, family support, economic situation and the mothers’ awareness of their stress. Results: There are statistically significant differences between mothers’ stress and their age (P = 0.03) and infants’ age (P < 0.0001). There are not statically significant differences between mothers’ stress score mean and their educational level (P = 0.75), the infants’ hospitalization history (P = 0.57), the history of congenital of disease in family (P = 0.24) and the family support in infant care (P = 0.08). Conclusion: Those mothers who asserted the stimuli of the hospital environment, infant and its mother support, economic situation and the mothers’ awareness lack of disease and infant status as strong stress-making stimuli enjoy a stress high mean. PMID:26918237

  11. Myocardial Factor Revisited: The Importance of Myocardial Fibrosis in Adults with Congenital Heart Disease

    PubMed Central

    Broberg, Craig S.; Burchill, Luke J.

    2015-01-01

    Pioneers in congenital heart surgery observed that exercise capacity did not return to normal levels despite successful surgical repair, leading some to cite a “myocardial factor” playing a role. They conjectured that residual alterations in myocardial function would be significant for patients’ long-term outlook. In fulfillment of their early observations, today’s adult congenital heart disease (ACHD) population shows well-recognized features of heart failure, even among patients without clear residual anatomic or hemodynamic abnormalities, demonstrating the vital role of the myocardium in their morbidity and mortality. Whereas the ‘myocardial factor’ was an elusive concept in the early history of congenital heart care, we now have imaging techniques to detect and quantify one such factor – myocardial fibrosis. Understanding the importance of myocardial fibrosis as a final common pathway in a variety of congenital lesions provides a framework for both the study and treatment of clinical heart failure in this context. While typical heart failure pharmacology should reduce or attenuate fibrogenesis, efforts to show meaningful improvements with standard pharmacotherapy in ACHD repeatedly fall short. This paper considers the importance of myocardial fibrosis and function, the current body of evidence for myocardial fibrosis in ACHD, and its implications for research and treatment. PMID:25897907

  12. Experience of decortication for restrictive hemodynamics in adults with congenital heart disease.

    PubMed

    Mizuno, Masanori; Ohuchi, Hideo; Kagisaki, Koji; Miyazaki, Aya; Ishibashi-Ueda, Hatsue; Yamada, Osamu

    2014-08-01

    We treated four postoperative adults with congenital heart disease with severe restrictive hemodynamics (RH), and performed decortication (DC) with the anticipation of some relief of the RH. The catheterizations before DC showed high central venous, and right and left ventricular end-diastolic pressures with "dip-and-plateau" pressure waveforms in the right and left ventricles. Upon myocardial histopathologic examination, moderate myocardial fibrotic change was demonstrated in two of three cases. DC led to decrease in type B natriuretic peptide levels in all cases, resulting in a decline in the central venous, right and left ventricular end-diastolic pressures in three cases. Successful DC-related relief of RH, dilatation of the ventricles with decline in central and end-diastolic pressures, was observed in only one case. Our limited DC-related hemodynamic improvement indicates a complexity of the severe RH, which may represent a unique intractable heart failure pathophysiology in intractable postoperative adult congenital heart disease.

  13. Anatomical Substrates and Ablation of Reentrant Atrial and Ventricular Tachycardias in Repaired Congenital Heart Disease

    PubMed Central

    Brouwer, Charlotte; Hazekamp, Mark G

    2016-01-01

    Advances in surgical repair techniques for various types of congenital heart disease have improved survival into adulthood over the past decades, thus exposing these patients to a high risk of atrial and ventricular arrhythmias later in life. These arrhythmias arise from complex arrhythmogenic substrates. Substrate formation may depend on both pathological myocardial remodelling and variable anatomical boundaries, determined by the type and timing of prior corrective surgery. Accordingly, arrhythmogenic substrates after repair have changed as a result of evolving surgical techniques. Radiofrequency catheter ablation offers an important therapeutic option but remains challenging due to the variable anatomy, surgically created obstacles and the complex arrhythmogenic substrates. Recent technical developments including electroanatomical mapping and image integration for delineating the anatomy facilitate complex catheter ablation procedures. The purpose of this review is to provide an update on the changing anatomical arrhythmogenic substrates and their potential impact on catheter ablation in patients with repaired congenital heart disease and tachyarrhythmias. PMID:27617095

  14. Anatomical Substrates and Ablation of Reentrant Atrial and Ventricular Tachycardias in Repaired Congenital Heart Disease.

    PubMed

    Brouwer, Charlotte; Hazekamp, Mark G; Zeppenfeld, Katja

    2016-08-01

    Advances in surgical repair techniques for various types of congenital heart disease have improved survival into adulthood over the past decades, thus exposing these patients to a high risk of atrial and ventricular arrhythmias later in life. These arrhythmias arise from complex arrhythmogenic substrates. Substrate formation may depend on both pathological myocardial remodelling and variable anatomical boundaries, determined by the type and timing of prior corrective surgery. Accordingly, arrhythmogenic substrates after repair have changed as a result of evolving surgical techniques. Radiofrequency catheter ablation offers an important therapeutic option but remains challenging due to the variable anatomy, surgically created obstacles and the complex arrhythmogenic substrates. Recent technical developments including electroanatomical mapping and image integration for delineating the anatomy facilitate complex catheter ablation procedures. The purpose of this review is to provide an update on the changing anatomical arrhythmogenic substrates and their potential impact on catheter ablation in patients with repaired congenital heart disease and tachyarrhythmias. PMID:27617095

  15. The use of recombinant activated factor VII in congenital and acquired von Willebrand disease.

    PubMed

    Franchini, Massimo; Veneri, Dino; Lippi, Giuseppe

    2006-11-01

    Recombinant activated factor VII (NovoSeven), a novel hemostatic agent originally developed for the treatment of bleeding episodes in hemophilia A or B patients with inhibitors, has been recently employed with benefit for the management of hemorrhages in other nonhemophilic congenital and acquired hemostatic abnormalities. This review focuses on the use of this drug in acquired and congenital von Willebrand disease. The analysis of the literature data shows that recombinant activated factor VII is an effective agent for the treatment of refractory bleeding in von Willebrand disease patients and for the treatment or prevention of bleeding in those patients with alloantibodies or autoantibodies against von Willebrand factor. Further studies are needed, however, to assess its safety and to optimize the dosages and regimens of therapy in such patients.

  16. [Effects of octreotide acetate on intractable chylothorax after surgery for congenital heart diseases].

    PubMed

    Kaneko, M; Hiramatsu, T; Nishimura, Y; Iwahashi, M; Komori, S; Shibata, M; Yuzaki, M; Okamura, Y; Suzuki, H; Takeuchi, T; Shibuta, S

    2006-07-01

    We experienced 2 infants in whom octreotide acetate was effective on intractable chylothorax after surgery for congenital heart diseases. They were 8- and 5-month-old. They were diagnosed as having corrected transposition of the great arteries (TGA) and tetralogy of Fallot respectively, and underwent bidirectional Glenn anastomosis and right modified Blalock Taussig shunt. Chylothorax was revealed on the 11th and the 1st postoperative day, and was not improved by any conventional therapy in either case. Then octreotide acetate was infused continuously with 0.1-0.6 micorg/kg/hour for 24 and 7 days. Chylothorax disappeared completely without any complications such as disturbance of blood sugar level or growth retardation. Octreotide acetate was effective and safe even in infants in intractable chylothorax after surgery for congenital heart diseases, as long as used for short period.

  17. Anatomical Substrates and Ablation of Reentrant Atrial and Ventricular Tachycardias in Repaired Congenital Heart Disease

    PubMed Central

    Brouwer, Charlotte; Hazekamp, Mark G

    2016-01-01

    Advances in surgical repair techniques for various types of congenital heart disease have improved survival into adulthood over the past decades, thus exposing these patients to a high risk of atrial and ventricular arrhythmias later in life. These arrhythmias arise from complex arrhythmogenic substrates. Substrate formation may depend on both pathological myocardial remodelling and variable anatomical boundaries, determined by the type and timing of prior corrective surgery. Accordingly, arrhythmogenic substrates after repair have changed as a result of evolving surgical techniques. Radiofrequency catheter ablation offers an important therapeutic option but remains challenging due to the variable anatomy, surgically created obstacles and the complex arrhythmogenic substrates. Recent technical developments including electroanatomical mapping and image integration for delineating the anatomy facilitate complex catheter ablation procedures. The purpose of this review is to provide an update on the changing anatomical arrhythmogenic substrates and their potential impact on catheter ablation in patients with repaired congenital heart disease and tachyarrhythmias.

  18. ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease

    PubMed Central

    Hayes, Madeline; Gao, Xiaochong; Yu, Lisa X; Paria, Nandina; Henkelman, R. Mark; Wise, Carol A.; Ciruna, Brian

    2014-01-01

    Scoliosis is a complex genetic disorder of the musculoskeletal system, characterized by three-dimensional rotation of the spine. Curvatures caused by malformed vertebrae (congenital scoliosis (CS)) are apparent at birth. Spinal curvatures with no underlying vertebral abnormality (idiopathic scoliosis (IS)) most commonly manifest during adolescence. The genetic and biological mechanisms responsible for IS remain poorly understood due largely to limited experimental models. Here we describe zygotic ptk7 (Zptk7) mutant zebrafish, deficient in a critical regulator of Wnt signalling, as the first genetically defined developmental model of IS. We identify a novel sequence variant within a single IS patient that disrupts PTK7 function, consistent with a role for dysregulated Wnt activity in disease pathogenesis. Furthermore, we demonstrate that embryonic loss-of-gene function in maternal-zygotic ptk7 mutants (MZptk7) leads to vertebral anomalies associated with CS. Our data suggest novel molecular origins of, and genetic links between, congenital and idiopathic forms of disease. PMID:25182715

  19. Eponymous cardiovascular surgeries for congenital heart diseases--imaging review and historical perspectives.

    PubMed

    Buethe, Ji; Ashwath, Ravi C; Rajiah, Prabhakar

    2015-01-01

    Advances in pediatric cardiology and cardiac surgical techniques over the past few decades have revolutionized the management of the patients with congenital heart disease, and many now survive into adulthood. Several eponymous surgical procedures performed for congenital heart disease have been named after eminent surgeons. In this article, we provide a short biography of the surgeons associated with these eponymous surgical procedures along with their other important scientific contributions. This is followed by a review of these surgical procedures and their most common complications. Imaging appearances of these surgical procedures along with common complications are described and illustrated, with particular emphasis on magnetic resonance imaging. The surgical procedures described in this review include Blalock-Taussig, Potts, Waterston, Glenn, Fontan, Kawashima, Norwood, Sano, Damus-Kaye-Stansel, Mustard, Senning, Jatene, LeCompte, Rastelli, Rashkind, Ross, and Waldenhausen.

  20. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

    PubMed Central

    Santos, H; Mateus, J; Leal, M J

    1988-01-01

    An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome. Images PMID:3351909

  1. Unusual Thyroid Constellation in Down Syndrome: Congenital Hypothyroidism, Graves’ Disease, and Hemiagenesis in the Same Child

    PubMed Central

    Nebesio, Todd D.; Eugster, Erica A.

    2014-01-01

    We report a girl with Down syndrome who was diagnosed with congenital hypothyroidism in the newborn period due to left thyroid hemiagenesis. Unexpectedly, her hypothyroidism resolved at the age of 3 years. After being off thyroid hormone replacement for 7 years and having normal thyroid function, she developed Graves’ disease. Although Graves’ disease in association with thyroid hemiagenesis has previously been reported, this represents the youngest patient in whom this scenario has been described. Issues pertaining to thyroid hemiagenesis, autoimmune hyperthyroidism, and thyroid disease in children with Down’s syndrome are discussed. PMID:19492583

  2. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  3. Embolization of Uterine Arteriovenous Malformations Associated with Cyanotic Congenital Heart Disease

    SciTech Connect

    Wijesekera, N. T. Padley, S. P.; Kazmi, F.; Davies, C. L.; McCall, J. M.

    2009-09-15

    Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.

  4. Identity formation in adolescents with congenital cardiac disease: a forgotten issue in the transition to adulthood.

    PubMed

    Luyckx, Koen; Goossens, Eva; Van Damme, Carolien; Moons, Philip

    2011-08-01

    Identity formation is a core developmental task in adolescence and functions as a key resource for transitioning to adulthood. This study investigated how adolescents with congenital cardiac disease form their identity and how it relates to demographic and medical parameters, quality of life, perceived health, depressive symptoms, and loneliness. A total of 429 adolescents aged 14-18 years with congenital cardiac disease and 403 matched controls completed questionnaires on identity and all outcome variables. There were five meaningful identity statuses, similar to those obtained in the control sample, which were found in the patient sample. Of them, two statuses--achievement and foreclosure--were characterised by a strong sense of identity; one status--diffused diffusion--especially was characterised by a weak sense of identity combined with high scores on worry about the future. These identity statuses were differentially related to outcome variables, with individuals in diffused diffusion especially scoring highest on depressive symptoms, problems in school, treatment anxiety, and communication problems with clinicians, and lowest on quality of life. Having a strong sense of personal identity was found to protect against such maladaptive outcomes. In sum, most adolescents with congenital cardiac disease moved through their identity formation process in a similar manner to other adolescents. Adolescents with a diffused identity were particularly at risk of experiencing maladjustment and problems in treatment adherence. Hence, developing intervention strategies to provide continuity of care on the road to adulthood involves paying attention to core developmental tasks, such as identity formation in adolescents with congenital cardiac disease. PMID:21406136

  5. Trisomy 18 and complex congenital heart disease: seeking the threshold benefit.

    PubMed

    Boss, Renee D; Holmes, Kathryn W; Althaus, Janyne; Rushton, Cynda H; McNee, Hunter; McNee, Theresa

    2013-07-01

    A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18. The parents requested that the genetic diagnosis be excluded from all medical and surgical decision-making and that all life-prolonging therapies be made available to their infant. There was conflict among the medical team about what threshold of neonatal benefit could outweigh maternal and neonatal treatment burdens. A prenatal ethics consultation was requested.

  6. Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity.

    PubMed

    Sojka, Stephen; Amin, Nirav M; Gibbs, Devin; Christine, Kathleen S; Charpentier, Marta S; Conlon, Frank L

    2014-08-01

    The identification and characterization of the cellular and molecular pathways involved in the differentiation and morphogenesis of specific cell types of the developing heart are crucial to understanding the process of cardiac development and the pathology associated with human congenital heart disease. Here, we show that the cardiac transcription factor CASTOR (CASZ1) directly interacts with congenital heart disease 5 protein (CHD5), which is also known as tryptophan-rich basic protein (WRB), a gene located on chromosome 21 in the proposed region responsible for congenital heart disease in individuals with Down's syndrome. We demonstrate that loss of CHD5 in Xenopus leads to compromised myocardial integrity, improper deposition of basement membrane, and a resultant failure of hearts to undergo cell movements associated with cardiac formation. We further report that CHD5 is essential for CASZ1 function and that the CHD5-CASZ1 interaction is necessary for cardiac morphogenesis. Collectively, these results establish a role for CHD5 and CASZ1 in the early stages of vertebrate cardiac development.

  7. [Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].

    PubMed

    Robaszkiewicz, Katarzyna; Moraczewska, Joanna

    2011-01-01

    Congenital myopathies are clinically and genetically heterogeneous disorders characterized by muscle structural abnormalities, muscle weakness and deformities. The clinical spectrum of the disease ranges from severe cases with early death to adult-onset cases with slow progression. In the skeletal muscle fibers, the specific structural changes are rod-shaped structures present in the sarcoplasm (nemaline myopathy – NM) or nuclei (intranuclear rod myopathy – IRM), cap-like structures peripherally located within muscle fibers (cap disease – CD), accumulations of actin filaments (actin myopathy – AM), changes in the fiber type proportion and size (congenital fiber type disproportion – CFTD), irregularity of Z-lines and abnormal localization of myofiber nuclei. Mutations in several genes encoding muscle proteins have been linked to congenital myopathy. These genes include a-skeletal actin (ACTA1), tropomyosin (TPM2 and TPM3), troponin (TNNT1) and nebulin (NEB). In vitro and in vivo studies show that mutations identified within these genes have varying impacts on thin filament protein structure, which affect polymerization and stabilization of actin filament, actin cellular localization and regulation of actin-myosin activity. Many lines of evidence suggest that mutated proteins have "toxic" effects. Unfortunately, there is no existing simple correlation between the degree of protein disruption, muscle pathologies and disease severity. PMID:21677359

  8. The maternal-age-associated risk of congenital heart disease is modifiable.

    PubMed

    Schulkey, Claire E; Regmi, Suk D; Magnan, Rachel A; Danzo, Megan T; Luther, Herman; Hutchinson, Alayna K; Panzer, Adam A; Grady, Mary M; Wilson, David B; Jay, Patrick Y

    2015-04-01

    Maternal age is a risk factor for congenital heart disease even in the absence of any chromosomal abnormality in the newborn. Whether the basis of this risk resides with the mother or oocyte is unknown. The impact of maternal age on congenital heart disease can be modelled in mouse pups that harbour a mutation of the cardiac transcription factor gene Nkx2-5 (ref. 8). Here, reciprocal ovarian transplants between young and old mothers establish a maternal basis for the age-associated risk in mice. A high-fat diet does not accelerate the effect of maternal ageing, so hyperglycaemia and obesity do not simply explain the mechanism. The age-associated risk varies with the mother's strain background, making it a quantitative genetic trait. Most remarkably, voluntary exercise, whether begun by mothers at a young age or later in life, can mitigate the risk when they are older. Thus, even when the offspring carry a causal mutation, an intervention aimed at the mother can meaningfully reduce their risk of congenital heart disease.

  9. Embolization of Collateral Vessels Using Mechanically Detachable Coils in Young Children with Congenital Heart Disease

    SciTech Connect

    Sato, Y.; Ogino, H.; Hara, M.; Satake, M.; Oshima, H.; Banno, T.; Mizuno, K.; Mishima, A.; Shibamoto, Y.

    2003-11-15

    Our objective was to evaluate the usefulness of embolizing collateral vessels using mechanically detachable coils (MDCs) in children aged 3 years or younger with congenital heart disease. The subjects were 8 children with congenital heart disease featuring collateral vessels (age 18 days-3 years): 3 with a single ventricle, 2 with the tetralogy of Fallot, 2 with pulmonary atresia, and 1 with a ventricular septal defect. The embolized vessels were the major aortopulmonary collateral artery (MAPCA) in 5 patients, the persistent left superior vena cava in 2, and the coronary arteriovenous fistula in 1. A 4 or a 5 F catheter was used as the guiding device, and embolization was performed using MDCs and other conventional coils introduced through the microcatheter. One patient had growth of new MAPCAs after embolization, and these MAPCAs were also embolized with MDCs. Thus, a total of 9 embolization procedures were performed in 8 patients. Complete occlusion of the collateral vessels was achieved in 8 of 9 procedures (89%). Seven of 8 patients (88%) had uneventful courses after embolization, and MDC procedures appeared to play important roles in avoiding coil migration and achievement of safe coil embolization. One patient who underwent MAPCA embolization showed no improvement in heart function and died 2 months and 19 days later. Embolization of collateral vessels using MDCs in young children with congenital heart disease can be an effective procedure and a valuable adjunct to surgical management.

  10. Properties and mechanisms of immunoglobulins for congenital cytomegalovirus disease.

    PubMed

    Parruti, Giustino; Polilli, Ennio; Ursini, Tamara; Tontodonati, Monica

    2013-12-01

    Immunoglobulins are one major component of adaptive immunity to external and resident microorganisms, evolving very early in phylogenesis. They help eukaryotes in controlling infections, mainly through their neutralizing activity, which quenches both the cytopathic and inflammatory potential of invading microorganisms. Cytomegalovirus (CMV)-related disease is generally blunted in seropositive subjects with conserved specific humoral responses. CMV-seropositive pregnant women, in accordance with such evidence, suffer little or no fetal damage when reexposed to CMV. Several seminal experiences and early experimental models confirmed that repeated infusions of immunoglobulins, either with hyperimmune or standard preparations, may help to reduce maternal-fetal CMV transmission, as well as to quench fetal disease upon transmission. This review focused on experimental evidence supporting the potential role of immunoglobulins as a tool to control fetal CMV-related disease in pregnant women.

  11. A complex case of congenital cystic renal disease

    PubMed Central

    Cordiner, David S; Evans, Clair A; Brundler, Marie-Anne; McPhillips, Maeve; Murio, Enric; Darling, Mark; Taheri, Sepideh

    2012-01-01

    This case outlines the potential complexity of autosomal recessive polycystic kidney disease (ARPKD). It highlights the challenges involved in managing this condition, some of the complications faced and areas of uncertainty in the decision making process. With a paucity of published paediatric cases on this subject, this should add to the pool of information currently available. PMID:22605879

  12. Modeling congenital disease and inborn errors of development in Drosophila melanogaster

    PubMed Central

    Moulton, Matthew J.; Letsou, Anthea

    2016-01-01

    ABSTRACT Fly models that faithfully recapitulate various aspects of human disease and human health-related biology are being used for research into disease diagnosis and prevention. Established and new genetic strategies in Drosophila have yielded numerous substantial successes in modeling congenital disorders or inborn errors of human development, as well as neurodegenerative disease and cancer. Moreover, although our ability to generate sequence datasets continues to outpace our ability to analyze these datasets, the development of high-throughput analysis platforms in Drosophila has provided access through the bottleneck in the identification of disease gene candidates. In this Review, we describe both the traditional and newer methods that are facilitating the incorporation of Drosophila into the human disease discovery process, with a focus on the models that have enhanced our understanding of human developmental disorders and congenital disease. Enviable features of the Drosophila experimental system, which make it particularly useful in facilitating the much anticipated move from genotype to phenotype (understanding and predicting phenotypes directly from the primary DNA sequence), include its genetic tractability, the low cost for high-throughput discovery, and a genome and underlying biology that are highly evolutionarily conserved. In embracing the fly in the human disease-gene discovery process, we can expect to speed up and reduce the cost of this process, allowing experimental scales that are not feasible and/or would be too costly in higher eukaryotes. PMID:26935104

  13. Angiopoietin-2 in Adults with Congenital Heart Disease and Heart Failure

    PubMed Central

    Kümpers, Philipp; Denecke, Agnieszka; Westhoff-Bleck, Mechthild; Schieffer, Bernhard; Bauersachs, Johann; Kielstein, Jan T.; Tutarel, Oktay

    2013-01-01

    Background Chronic heart failure is an important cause for morbidity and mortality in adults with congenital heart disease (ACHD). While NT-proBNP is an established biomarker for heart failure of non-congenital origin, its application in ACHD has limitations. The angiogenic factors Angiopoietin-1 and -2 (Ang-1, Ang-2), vascular endothelial growth factor (VEGF), and soluble receptor tyrosine kinase of the Tie family (sTie2) correlate with disease severity in heart failure of non-congenital origin. Their role in ACHD has not been studied. Methods In 91 patients Ang-2 and NT-proBNP were measured and related to New York Heart Association class, systemic ventricular function and parameters of cardiopulmonary exercise testing. Ang-1, VEGF, and sTie2 were also measured. Results Ang-2 correlates with NYHA class and ventricular dysfunction comparable to NT-proBNP. Further, Ang-2 showed a good correlation with parameters of cardiopulmonary exercise testing. Both, Ang-2 and NT-proBNP identified patients with severely limited cardiopulmonary exercise capacity. Additionally, Ang-2 is elevated in patients with a single ventricle physiology in contrast to NT-proBNP. VEGF, Ang-1, and sTie2 were not correlated with any clinical parameter. Conclusion The performance of Ang-2 as a biomarker for heart failure in ACHD is comparable to NT-proBNP. Its significant elevation in patients with single ventricle physiology indicates potential in this patient group and warrants further studies. PMID:23826161

  14. Stem cell therapy and tissue engineering for correction of congenital heart disease

    PubMed Central

    Avolio, Elisa; Caputo, Massimo; Madeddu, Paolo

    2015-01-01

    This review article reports on the new field of stem cell therapy and tissue engineering and its potential on the management of congenital heart disease. To date, stem cell therapy has mainly focused on treatment of ischemic heart disease and heart failure, with initial indication of safety and mild-to-moderate efficacy. Preclinical studies and initial clinical trials suggest that the approach could be uniquely suited for the correction of congenital defects of the heart. The basic concept is to create living material made by cellularized grafts that, once implanted into the heart, grows and remodels in parallel with the recipient organ. This would make a substantial improvement in current clinical management, which often requires repeated surgical corrections for failure of implanted grafts. Different types of stem cells have been considered and the identification of specific cardiac stem cells within the heterogeneous population of mesenchymal and stromal cells offers opportunities for de novo cardiomyogenesis. In addition, endothelial cells and vascular progenitors, including cells with pericyte characteristics, may be necessary to generate efficiently perfused grafts. The implementation of current surgical grafts by stem cell engineering could address the unmet clinical needs of patients with congenital heart defects. PMID:26176009

  15. Update on heart failure, heart transplant, congenital heart disease, and clinical cardiology.

    PubMed

    Almenar, Luis; Zunzunegui, José Luis; Barón, Gonzalo; Carrasco, José Ignacio; Gómez-Doblas, Juan José; Comín, Josep; Barrios, Vivencio; Subirana, M Teresa; Díaz-Molina, Beatriz

    2013-04-01

    In the year 2012, 3 scientific sections-heart failure and transplant, congenital heart disease, and clinical cardiology-are presented together in the same article. The most relevant development in the area of heart failure and transplantation is the 2012 publication of the European guidelines for heart failure. These describe new possibilities for some drugs (eplerenone and ivabradine); expand the criteria for resynchronization, ventricular assist, and peritoneal dialysis; and cover possibilities of percutaneous repair of the mitral valve (MitraClip(®)). The survival of children with hypoplastic left heart syndrome in congenital heart diseases has improved significantly. Instructions for percutaneous techniques and devices have been revised and modified for the treatment of atrial septal defects, ostium secundum, and ventricular septal defects. Hybrid procedures for addressing structural congenital heart defects have become more widespread. In the area of clinical cardiology studies have demonstrated that percutaneous prosthesis implantation has lower mortality than surgical implantation. Use of the CHA2DS2-VASc criteria and of new anticoagulants (dabigatran, rivaroxaban and apixaban) is also recommended. In addition, the development of new sequencing techniques has enabled the analysis of multiple genes.

  16. Follow-up and physical activity in postoperative congenital heart disease.

    PubMed

    Colonna, Pierluigi; Manfrin, Marcello; Cecconi, Moreno; Perna, Gian Piero; Picchio, Fernando Maria

    2007-01-01

    During the past three decades, interventional cardiology and cardiac surgery have found solutions even for the most complex congenital heart malformations with an overall low operative mortality. A careful clinical and instrumental follow-up of postoperative congenital heart disease patients is fundamental not only to prevent complications and/or to treat eventual residua and sequelae, but also to modify future surgical strategies on the basis of long-term results. To be able to give a correct prognostic meaning to the data collected during the follow-up, the cardiologist should have an excellent knowledge of the native defect, the surgical technique and the post-surgical anatomy and physiology. Major cardiological concerns during a follow-up after corrective surgery are: arrhythmias; heart failure; cyanosis and erythrocytosis; and infective endocarditis. Psychosocial needs, such as employment, contraception, pregnancy and physical exercise, are very important to enable a 'normal' life, complying with the postoperative hemodynamic situation of the patients.

  17. De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

    PubMed Central

    Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S.; Samocha, Kaitlin E.; Karczewski, Konrad J.; DePalma, Steven R.; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A.; Kim, Richard; Bilguvar, Kaya; Lopez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E.; Russell, Mark W.; Mital, Seema; Newburger, Jane W.; Gaynor, J. William; Breitbart, Roger E.; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J.; Kaltman, Jonathan R.; Seidman, Jonathan G.; Brueckner, Martina; Gelb, Bruce D.; Goldmuntz, Elizabeth; Lifton, Richard P.; Seidman, Christine E.; Chung, Wendy K.

    2016-01-01

    Congenital heart disease (CHD) patients have increased prevalence of extra-cardiac congenital anomalies (CA) and risk of neurodevelopmental disabilities (NDD). Exome sequencing of 1,213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD and CA but only 2% with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, an mRNA splice regulator. Genes mutated in other cohorts ascertained for NDD were enriched in CHD cases, particularly those with coexisting NDD. These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients. PMID:26785492

  18. Congenital myopathies.

    PubMed

    Romero, Norma Beatriz; Clarke, Nigel F

    2013-01-01

    Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific structural abnormalities in the skeletal muscle detected by enzyme-histochemistry and electron microscopy studies. During the last decades there have been significant advances in the identification of the genetic basis of most congenital myopathies. However, there is significant genetic heterogeneity within the main groups of congenital myopathies, and mutations in one particular gene may also cause diverse clinical and morphological phenotypes. Thus, the nosography and nosology in this field is still evolving. PMID:23622357

  19. Comparison of speed of inhalational induction in children with and without congenital heart disease

    PubMed Central

    Hasija, Suruchi; Chauhan, Sandeep; Jain, Pawan; Choudhury, Arin; Aggarwal, Neelam; Pandey, Ravinder Kumar

    2016-01-01

    Background: Conduct of stable inhalational anesthetic induction in children with congenital heart disease (CHD) presents special challenges. It requires in-depth understanding of the effect of congenital shunt lesions on the uptake, delivery, and equilibration of anesthetic drugs. Intracardiac shunts can alter the induction time and if delivery of anesthetic agent is not carefully titrated, can lead to overdosing and undesirable myocardial depression. Aims: To study the effect of congenital shunt lesions on the speed of inhalational induction and also the impact of inhalational induction on hemodynamics in the presence of congenital shunt lesions. Setting: Tertiary care hospital. Design: A prospective, single-center clinical study. Materials and Methods: Ninety-three pediatric patients undergoing elective surgery were segregated into three equal groups, namely, Group 1: no CHD, Group 2: acyanotic CHD, and Group 3: cyanotic CHD. General anesthesia was induced with 8% sevoflurane in 6 L/min air-oxygen. The time to induction was noted at loss of eyelash reflex and decrease in bispectral index (BIS) value below 60. End-tidal sevoflurane concentration, minimum alveolar concentration, and BIS were recorded at 15 s intervals for the 1st min followed by 30 s interval for another 1 min during induction. Hemodynamic data were recorded before and after induction. Results: Patients in Group 3 had significantly prolonged induction time (99 ± 12.3 s; P < 0.001), almost twice that of the patients in other two groups (51 ± 11.3 s in Group 1 and 53 ± 12.0 s in Group 2). Hypotension occurred after induction in Group 1. No other adverse hemodynamic perturbations were observed. Conclusion: The time to inhalational induction of anesthesia is significantly prolonged in patients with right-to-left shunt, compared to patients without CHD or those with left-to-right shunt, in whom it is similar. Sevoflurane is safe and maintains stable hemodynamics in the presence of CHD. PMID:27397451

  20. Synopsis of congenital cardiac disease among children attending University of Nigeria Teaching Hospital Ituku Ozalla, Enugu

    PubMed Central

    2013-01-01

    Background The objective of this study was to determine the pattern of congenital cardiac disease among children attending UNTH, Enugu, Nigeria. The nature of these abnormalities and the outcome were also considered. The exact etiology is unknown but genetic and environmental factors tend to be implicated. The difference in the pattern obtained worldwide and few studies in Nigeria could be due to genetic, environmental, socioeconomic, or ethnic origin. Methods A retrospective analysis of discharged cases in which a review of the cases of all children attending children outpatient clinics including cardiology clinic of the University of Nigeria Teaching Hospital (UNTH), Enugu over a five year period (January 2007-June 2012) was undertaken. All the children presenting with cardiac anomalies were included in the study and the cases were investigated using ECG, X-ray and echocardiography studies. Results A total of 31,795 children attended the children outpatient clinics of the hospital over the study period. Of these, seventy one (71) had cardiac diseases. The overall prevalence of cardiac disease is 0.22%. The commonest symptoms were breathlessness, failure to thrive and cyanosis. Almost all types of congenital detects were represented, the commonest being isolated ventricular septal detect (VSD), followed by tetralogy of Fallot. One of these cardiac anomalies presented with Downs’s syndrome and another with VACTERAL association. Conclusions The results of this study show that 0.22% per cent of children who attended UNTH in Enugu State had congenital cardiac abnormalities and the commonest forms seen were those with VSD. PMID:24252233

  1. Prevalence and Correlates of Post-traumatic Stress Disorder in Adults With Congenital Heart Disease.

    PubMed

    Deng, Lisa X; Khan, Abigail May; Drajpuch, David; Fuller, Stephanie; Ludmir, Jonathan; Mascio, Christopher E; Partington, Sara L; Qadeer, Ayesha; Tobin, Lynda; Kovacs, Adrienne H; Kim, Yuli Y

    2016-03-01

    Post-traumatic stress disorder (PTSD) is associated with adverse outcomes and increased mortality in cardiac patients. No studies have examined PTSD in the adult congenital heart disease (ACHD) population. The objectives of this study were to assess the prevalence of self-reported symptoms of PTSD in patients with ACHD and explore potential associated factors. Patients were enrolled from an outpatient ACHD clinic and completed several validated measures including the Impact of Event Scale-Revised, PTSD Checklist-Civilian Version, and the Hospital Anxiety and Depression Scale. Clinical data were abstracted through medical data review. A total of 134 participants (mean age 34.6 ± 10.6; 46% men) were enrolled. Of the 127 participants who completed the Impact of Event Scale-Revised, 14 (11%) met criteria for elevated PTSD symptoms specifically related to their congenital heart disease or treatment. Of the 134 patients who completed PTSD Checklist-Civilian Version, 27 (21%) met criteria for global PTSD symptoms. In univariate analyses, patients with congenital heart disease-specific PTSD had their most recent cardiac surgery at an earlier year (p = 0.008), were less likely to have attended college (p = 0.04), had higher rates of stroke or transient ischemic attack (p = 0.03), and reported greater depressive symptoms on the Hospital Anxiety and Depression Scale (7 vs 2, p <0.001). In multivariable analysis, the 2 factors most strongly associated with PTSD were depressive symptoms (p <0.001) and year of most recent cardiac surgery (p <0.03). In conclusion, PTSD is present in 11% to 21% of subjects seen at a tertiary referral center for ACHD. The high prevalence of PTSD in this complex group of patients has important implications for the medical and psychosocial management of this growing population.

  2. Population Pharmacokinetics of Etomidate in Neonates and Infants with Congenital Heart Disease

    PubMed Central

    Su, Felice; El-Komy, Mohammed H.; Hammer, Gregory B.; Frymoyer, Adam; Cohane, Carol A.; Drover, David R.

    2015-01-01

    Background Etomidate is a rapid-onset, short-acting hypnotic medication administered for induction of anesthesia. It is currently approved by the Food and Drug Administration for use in older children and adults. Pharmacokinetic data to help guide dosing in neonates and infants is lacking. Objective The aim of this study was to determine the pharmacokinetics of etomidate in neonates and infants with congenital heart disease undergoing cardiac surgery. Methods Four neonates and sixteen infants, postnatal age 0.3 – 11.7 months, requiring open-heart surgery received 0.3 mg/kg of etomidate administered as a single intravenous dose prior to surgery. Blood sampling for plasma etomidate concentration occurred immediately following etomidate administration until the initiation of cardiopulmonary bypass. A population pharmacokinetic approach using nonlinear mixed–effects modeling was applied to characterize etomidate pharmacokinetics. Results The pharmacokinetics of etomidate was described by a two-compartment model with first-order elimination. An allometric weight-based model was applied to scale results to a 70 kg adult. Covariates including age and cardiac physiology were not found to significantly impact etomidate pharmacokinetics. The study population was found to have a central and intercompartmental clearance of 0.624 L/min/70-kg and 0.44 L/min/70-kg, respectively; central and peripheral distribution volume of 9.47 and 22.8 L/70-kg, respectively. Inter-individual variability was between 94–142% for all parameters and residual variability was 29%. Conclusions The clearance of etomidate is lower in neonates and infants with congenital heart disease compared to published values for older children without congenital heart disease. In addition, etomidate pharmacokinetics is highly variable in this pediatric cardiac population. PMID:25377074

  3. [Optimization of postoperative medical therapy of infective endocarditis in patients with congenital valvular heart disease].

    PubMed

    Chistyakov, I S; Medvedev, A P; Pichugin, V V

    2016-01-01

    The purpose of this study was to evaluate the effectiveness of combined surgical and medical treatment of infective endocarditis in patients with congenital valvular heart disease when included in a regimen of the drug Reamberin. In this regard, the analysis of the effectiveness of a combination regimen of 74 patients with valvular congenital heart diseases complicated with infective endocarditis. Given the indications for surgical correction operative technique features and possible technical difficulties in carrying out such operations, due to the inflammatory changes and tissue destruction, and ways to overcome them. For the correction of metabolic disorders in the postoperative period, 47 patients (main group) was appointed Reamberin: once, intravenous drip 400 ml/day during the first 5 days after surgery. 27 patients (control group) was conducted infusion therapy depending on the severity of the condition according to the classical scheme. In addition to standard clinical and laboratory examination, to assess the effectiveness of Reamberin was investigated catalase activity of CPK in blood serum in the dynamics of observation (1, 3 and 5 days after surgery). It is revealed that surgical approach, used in complex treatment of patients with valvular congenital heart diseases, including reorganization of the cavities of the heart, increasing the frequency of joints and the use of reinforcing strips of synthetic material that prevents the cutting of sutures through the inflamed tissue has achieved good short-and long-term results. Infective endocarditis and destruction of the valvular annulus fibrosus the use of a frame of strips of polytetrafluoroethylene allows you to restore its integrity and to implant a mechanical prosthesis. The inclusion in the regimen of patients with infective endocarditis complicated by cardiac insufficiency in the early postoperative period the drug Reamberin improves the efficiency of treatment by a more rapid restoration of the normal

  4. Elements of Psychocardiology in the Psychosocial Handling of Adults with Congenital Heart Disease

    PubMed Central

    Callus, Edward; Quadri, Emilia; Chessa, Massimo

    2010-01-01

    When it comes to the role of the clinical psychology in the cardiac settings, or psychocardiology, there is often a focus on acquired cardiac illnesses in the rehabilitation settings. However, the increase of adults with congenital heart disease due to technological advances in cardiology and cardiac surgery have created a new emergency. It is thus necessary to reflect upon the elements of psychocardiology adapting them to this new population, also when it comes to interventional hospital settings of cardiology and cardiac surgery. This perspective article is an effort in this direction. PMID:21833204

  5. MRI of brain disease in veterinary patients part 1: Basic principles and congenital brain disorders.

    PubMed

    Hecht, Silke; Adams, William H

    2010-01-01

    Magnetic resonance imaging (MRI) is increasingly being used in the diagnosis of central nervous system disorders in veterinary patients and is quickly becoming the imaging modality of choice in evaluation of brain and intracranial disease. This article provides an overview of the basic principles of MRI, a description of sequences and their applications in brain imaging, and an approach to interpretation of brain MRI. A detailed discussion of imaging findings in general intracranial disorders including hydrocephalus, vasogenic edema, brain herniation, and seizure-associated changes, and the MR diagnosis of congenital brain disorders is provided. MRI evaluation of acquired brain disorders is described in a second companion article.

  6. The challenge of congenital heart disease worldwide: epidemiologic and demographic facts.

    PubMed

    Bernier, Pierre-Luc; Stefanescu, Ada; Samoukovic, Gordan; Tchervenkov, Christo I

    2010-01-01

    Congenital heart disease (CHD) afflicts a large number of children every year. The incidence of CHD is generally considered to be 8 per 1,000 live births. However, this estimate is perhaps inaccurate and does not take into consideration regional differences. A large review of the literature was performed to establish the true incidence of CHD and geographical variations. Data on the incidence of specific lesions and their geographical variation, as well as on mortality from CHD, was also reviewed. Taking into consideration the available data on incidence, mortality, and access to care, the global challenge that CHD represents was analyzed. Insight into how to confront this challenge is given. PMID:20307858

  7. Oxygen consumption and evaporative water loss in infants with congenital heart disease.

    PubMed Central

    Kennaird, D L

    1976-01-01

    The relation between environmental temperature, heat production, oxygen consumption, and evaporative water loss was studied in 67 infants with congenital heart disease. The majority of the cyanosed infants had a low minimum oxygen consumption, a low evaporative water loss, and a diminished metabolic response to cold stress. Minimum oxygen consumption and evaporative water loss rose in 6 of these infants after the construction of a surgical shunt. Many of the ill acyanotic infants had an abnormally high minimum oxygen consumption, and those in cardiac failure often continued to sweat in an environment below the thermoneutral temperature zone. PMID:942228

  8. Implications of Using Pulse Oximetry to Screen for Critical Congenital Heart Disease in Newborns.

    PubMed

    Andrea, Joan

    2015-01-01

    In recent years, pulse oximetry screening for critical congenital heart disease (CCHD) in newborns has been added to the list of recommended uniform screening panels and recommended by several health care organizations. Most states use pulse oximetry to screen for CCHD. Studies have identified problems with compliance and higher failure rate at moderate altitudes than at sea level, suggesting the need for alternate algorithms. Altitude, time, health status of newborns and type of cardiac defect appear to affect results. Early detection of CCHD improves health outcomes and reduces morbidity and mortality. Barriers to screening include out-of-hospital births, cost and knowledge deficits among health care professionals.

  9. More Than Just the Heart: Transition and Psychosocial Issues in Adult Congenital Heart Disease.

    PubMed

    Kovacs, Adrienne H; Utens, Elisabeth M

    2015-11-01

    Most infants born with congenital heart disease (CHD) are now expected to reach adulthood. However, adults with CHD of moderate or great complexity remain at elevated risk of heart failure, arrhythmias, additional surgeries and interventional procedures, and premature mortality. This creates a need for lifelong specialized cardiac care and leads to 2 sets of potential challenges: (1) the transition from pediatric to adult care and (2) the psychosocial implications of coping with a chronic and often life-shortening medical condition. Many adolescents struggle with the transition to adult care, and mood and anxiety disorders are not uncommon in the adult setting.

  10. Successful cord blood transplantation in an adult acute lymphoblastic leukemia patient with congenital heart disease.

    PubMed

    Kowata, Shugo; Fujishima, Yukiteru; Suzuki, Yuzo; Tsukushi, Yasuhiko; Oyake, Tatsuo; Togawa, Ryou; Oyama, Kotaro; Ikai, Akio; Ito, Shigeki; Ishida, Yoji

    2016-08-01

    Recent advances in surgical corrections and supportive care for congenital heart disease have resulted in increasing numbers of adult survivors who may develop hematological malignancies. Treatments including chemotherapy for such patients may cause serious hemodynamic or cardiac complications, especially in those receiving stem cell transplantation. We present a 29-year-old woman with acute lymphoblastic leukemia and congenital heart disease. She had been diagnosed with pulmonary atresia with an intact ventricular septum at birth, and the anomaly was surgically corrected according to the Fontan technique at age 9 years. Her induction chemotherapy required modifications due to poor cardiac status with Fontan circulation. However, after surgical procedures including total cavopulmonary connection and aortic valve replacement at first complete remission, her cardiac status was significantly improved. Subsequently, she underwent cord blood stem cell transplantation at the third complete remission. She required intensive supportive care for circulatory failure as a pre-engraftment immune reaction and stage III acute graft versus host disease of the gut, but recovered from these complications. She was discharged on day 239, and remained in complete remission at 1-year post-transplantation. PMID:27599417

  11. Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation

    PubMed Central

    Arruda, Bailey L.; Arruda, Paulo H.; Magstadt, Drew R.; Schwartz, Kent J.; Dohlman, Tyler; Schleining, Jennifer A.; Patterson, Abby R.; Visek, Callie A.; Victoria, Joseph G.

    2016-01-01

    Congenital tremors is a sporadic disease of neonatal pigs characterized by action-related repetitive myoclonus. A majority of outbreaks of congenital tremors have been attributed to an unidentified virus. The objectives of this project were to 1) detect potential pathogen(s) in samples from piglets with congenital tremors and 2) develop an infection model to reproduce disease. Using next-generation sequencing, a divergent lineage pestivirus was detected in piglets with congenital tremors. The virus was originally most closely related to a bat pestivirus but is now more closely related to a recently published novel porcine pestivirus provisionally named atypical porcine pestivirus. A quantitative real-time PCR detected the virus in samples from neonatal piglets with congenital tremors from two separate farms, but not in samples from unaffected piglets from the same farm. To fulfill the second objective, pregnant sows were inoculated with either serum containing the pestivirus or PBS (control) by intravenous and intranasal routes simultaneously with direct inoculation of fetal amniotic vesicles by ultrasound-guided surgical technique. Inoculations were performed at either 45 or 62 days of gestation. All sows inoculated with the novel pestivirus farrowed piglets affected with congenital tremors while PBS-inoculated control piglets were unaffected. Tremor severity for each piglet was scored from videos taken 0, 1 and 2 days post-farrowing. Tremor severity remained relatively constant from 0 to 2 days post-farrowing for a majority of piglets. The prevalence of congenital tremors in pestivirus-inoculated litters ranged from 57% (4 out of 7 affected piglets) to 100% (10 out of 10 affected piglets). The virus was consistently detected by PCR in tissues from piglets with congenital tremors but was not detected in control piglets. Samples positive by PCR in greater than 90% of piglets sampled included brainstem (37 out of 41), mesenteric lymph node (37 out of 41

  12. Ethical considerations related to the use of mechanical support in congenital heart disease.

    PubMed

    Rossano, Joseph W; Kaufman, Beth D; Rame, J Eduardo

    2013-01-01

    Heart failure frequently complicates congenital heart disease (CHD) in children and adults. In patients with end-stage disease, mechanical circulatory support may improve survival, quality of life, and serve as bridge to cardiac transplantation. There are many ethical issues surrounding the use of mechanical circulatory support in patients with CHD including the use of prospective and randomized trials, proper oversight of new therapies, and transparency in reporting. Additionally, there are ethical considerations relevant to the greater society as these therapies are highly resource intensive in a resource-limited society. This article will review the burden of disease of heart failure in patients with CHD, the challenges of mechanical circulatory support and heart transplantation, and the ethical considerations and problems that arise for this population. PMID:23799758

  13. From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease

    PubMed Central

    Roberts, Neil A.; Hilton, Emma N.; Woolf, Adrian S.

    2016-01-01

    We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial syndrome (UFS), a congenital condition inherited in an autosomal recessive manner. UFS features incomplete urinary bladder emptying and vesicoureteric reflux, with a high risk of recurrent urosepsis and end-stage renal disease. The story starts from a human genomic perspective, then proceeds through experiments that seek to determine the roles of the implicated molecules in embryonic frogs and newborn mice. A future aim would be to use such biological knowledge to intelligently choose novel therapies for UFS. We focus on heparanase proteins and the peripheral nervous system, molecules and tissues that appear to be key players in the pathogenesis of UFS and therefore must also be critical for functional differentiation of healthy bladders. These considerations allow the envisioning of novel biological treatments, although the potential difficulties of targeting the developing bladder in vivo should not be underestimated. PMID:26315301

  14. Peptic ulcer disease with related drug treatment in pregnant women and congenital abnormalities in their offspring.

    PubMed

    Bánhidy, Ferenc; Dakhlaoui, Abdallah; Puhó, Erzsébet H; Czeizel, Andrew E

    2011-03-01

    Peptic ulcer disease (PUD) is a common disease which can also occur in pregnant women. However, the possible association of PUD and related drug treatments in pregnant women with the risk of structural birth defects (i.e. congenital abnormalities [CA]) in their offspring has not been estimated in controlled population-based epidemiological studies. Thus, the prevalence of PUD in pregnant women who later delivered babies (cases) with different CA and in pregnant women who delivered newborns without CA (controls) was compared in the Hungarian Case-Control Surveillance of Congenital Abnormalities. Controls were matched to cases. Of 22,843 cases with congenital abnormalities, 182 (0.80%) had mothers with reported/recorded PUD, while of 38,151 controls, 261 (0.68%) were born to mothers with reported/recorded PUD. However, PUD(?) based on maternal information and/or unspecified diagnostic criteria, and PUD(!) based on endoscopic diagnosis showed different variables of mothers and newborn infants. Thus, finally, 20 case mothers and 58 control mothers with PUD(!) and related drugs were evaluated in detail. There was no higher risk for total CA group in the offspring of mothers with PUD during pregnancy (adjusted OR with 95% CI: 0.6, 0.3-0.9). Specific CA groups in cases were also assessed versus controls, but specified CA had no higher risk in the offspring of pregnant women with PUD and related drug treatments. In conclusion, a higher rate of CA was not found in the offspring of mothers with PUD.

  15. Prevalence of Congenital Heart Disease in Xinjiang Multi-Ethnic Region of China

    PubMed Central

    Xie, Xiang; Li, Xiao-Mei; Ma, Xiang; Fu, Zhen-Yan; Chen, Bang-Dang; Huang, Ying; Shan, Chun-Fang; Ma, Yi-Tong; Gao, Xiao-Ming

    2015-01-01

    Background The prevalence and risk factors of congenital heart disease among Xinjiang, northwestern part of China is currently unknown. Methods This multiple-ethnic, community-based, cross-sectional study was conducted to estimate the prevalence and distribution of congenital heart disease (CHD) in Xinjiang, northwestern part of China. Four major ethnics, Uygur, Han, Kazak, and Hui children in this region were investigated during February 2010 and May 2012. Results A total of 14,530 children (0–18 yr) were examined. Of these children, 240 (boys, 43.8%, and girls, 56.3%) were identified with CHD, giving an overall prevalence of 16.5‰ (17.7‰ in Uygur, 6.9‰ in Han, 11.4‰ in Kazak, and 38.1‰ in Hui Chinese, respectively). Ventricular septal defect (VSD, 29.2%), atrial septal defect (ASD, 20.8%), patent ductus arteriosus (PDA, 13.7%), acleistocardia (13.7%), Bicuspid aortic valve (7.9%), pulmonary valve stenosis (5.4%), and tetralogy of fallot (TOF, 4.2%) were common cyanotic and cyanotic defects observed. Compared to non-CHD children, children with CHD had a higher percentage of history of abortion, CHD history of family, consanguinity and premature birth (all P<0.05). In CHD children, 24% of mothers caught a cold, 10% had a febrile illness and 6.7% received antibiotic treatment during the first trimester of pregnancy, that were higher than non-CHD group (all P<0.05). Conclusion The overall prevalence of CHD in four ethnic children at ages 0–18 yr in Xinjiang was 16.5‰. VSD, ASD and TOF were the most common acyanotic and cyanotic congenital heart defects, respectively. This study also identified some modifiable risk factors that may contribute to the incidence of CHD among the 4 ethnic groups. PMID:26317413

  16. Asplenia in children with congenital heart disease as a cause of poor outcome

    PubMed Central

    Genel, Ferah; Erdur, Baris; Ozbek, Erhan; Gulez, Nesrin; Mese, Timur

    2015-01-01

    The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria. Congenital asplenia can be part of multiple congenital abnormalities as in heterotaxy including Ivemark syndrome with congenital anomalies of the heart or great vessels, or it can be isolated, which is extremely rare. In these cases, asplenia is an important factor effecting mortality. In this report, the clinical courses of five children with asplenia and concomitant minor or complex cardiac anomalies are presented. The ages of the children ranged between 1.5 and 17 months at the time of diagnosis. All of the cases had had a history of hospitalisation for infectious diseases before the diagnosis. The patient who was diagnosed at 17 months old had a history pneumonia, urinary tract infection, and bacterial meningitis beginning at five months old. Three children had complex cardiac anomalies, one child had ventricular septal defect, and one child had atrial septal defect. Howell-Jolly bodies were determined in peripheral blood smear in all of the patients. The diagnoses of asplenia were confirmed with spleen scintigraphy. One of the patients with complex cardiac anomalies died a short time after diagnosis, because of cardiac failure. The rest of the four patients were vaccinated for encapsulated bacteria and were taken under antibiotic prophylaxis. These children did not need hospitalisation for infectious diseases during the follow-up period (5-40 months). In asplenic children, early diagnosis, antibiotic prophylaxis, and immunisation for encapsulated bacteria can decrease the risk of morbidity and mortality. PMID:26557043

  17. Mortality from Congenital Heart Disease in Mexico: A Problem on the Rise

    PubMed Central

    Torres-Cosme, José Luis; Rolón-Porras, Constanza; Aguinaga-Ríos, Mónica; Acosta-Granado, Pedro Manuel; Reyes-Muñoz, Enrique; Murguía-Peniche, Teresa

    2016-01-01

    Background and Objectives Temporal trends in mortality from congenital heart disease (CHD) vary among regions. It is therefore necessary to study this problem in each country. In Mexico, congenital anomalies were responsible for 24% of infant mortality in 2013 and CHD represented 55% of total deaths from congenital anomalies among children under 1 year of age. The objectives of this study were to analyze the trends in infant mortality from CHD in Mexico (1998 to 2013), its specific causes, age at death and associated socio-demographic factors. Methods Population-based study which calculated the compounded annual growth rate of death rom CHD between 1998 and 2013. Specific causes, age at which death from CHD occurred and risk factors associated with mortality were analyzed for the year 2013. Results Infant mortality from CHD increased 24.8% from 1998 to 2013 (114.4 to 146.4/ 100,000 live births). A total of 3,593 CHD deaths occurred in 2013; the main causes were CHD with left-to-right shunt (n = 487; 19.8/100,000 live births) and cyanotic heart disease (n = 410; 16.7/100,000). A total of 1,049 (29.2%) deaths from CHD occurred during the first week of life. Risk factors associated with mortality from CHD were, in order of magnitude: non-institutional birth, rural area, birth in a public hospital and male sex. Conclusions Mortality from CHD has increased in Mexico. The main causes were CHD with left-to-right shunt, which are not necessarily fatal if treated promptly. Populations vulnerable to death from CHD were identified. Approximately one-third of the CHD occurred during the first week of life. It is important to promote early diagnosis, especially for non-institutional births. PMID:26937635

  18. Asplenia in children with congenital heart disease as a cause of poor outcome.

    PubMed

    Erdem, Semiha Bahceci; Genel, Ferah; Erdur, Baris; Ozbek, Erhan; Gulez, Nesrin; Mese, Timur

    2015-01-01

    The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria. Congenital asplenia can be part of multiple congenital abnormalities as in heterotaxy including Ivemark syndrome with congenital anomalies of the heart or great vessels, or it can be isolated, which is extremely rare. In these cases, asplenia is an important factor effecting mortality. In this report, the clinical courses of five children with asplenia and concomitant minor or complex cardiac anomalies are presented. The ages of the children ranged between 1.5 and 17 months at the time of diagnosis. All of the cases had had a history of hospitalisation for infectious diseases before the diagnosis. The patient who was diagnosed at 17 months old had a history pneumonia, urinary tract infection, and bacterial meningitis beginning at five months old. Three children had complex cardiac anomalies, one child had ventricular septal defect, and one child had atrial septal defect. Howell-Jolly bodies were determined in peripheral blood smear in all of the patients. The diagnoses of asplenia were confirmed with spleen scintigraphy. One of the patients with complex cardiac anomalies died a short time after diagnosis, because of cardiac failure. The rest of the four patients were vaccinated for encapsulated bacteria and were taken under antibiotic prophylaxis. These children did not need hospitalisation for infectious diseases during the follow-up period (5-40 months). In asplenic children, early diagnosis, antibiotic prophylaxis, and immunisation for encapsulated bacteria can decrease the risk of morbidity and mortality. PMID:26557043

  19. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  20. A controlled trial of early interventions to promote maternal adjustment and development in infants born with severe congenital heart disease.

    PubMed

    McCusker, C G; Doherty, N N; Molloy, B; Rooney, N; Mulholland, C; Sands, A; Craig, B; Stewart, M; Casey, F

    2010-01-01

    Abstract Background Congenital heart disease can have a negative impact on both infant development and maternal adjustment. This study considered the impact of a new programme of early psychosocial interventions on such outcomes, following the birth of a child with severe congenital heart disease. Methods Seventy infants and their mothers were assigned to an intervention or control group based on order of presentation to the unit. Interventions aimed at bolstering mother-infant transactions, through psychoeducation, parent skills training and narrative therapy techniques were implemented. Results Clinically and statistically significant gains were observed at 6-month follow-up on the mental (but not the psychomotor) scale of the Bayleys-II. Positive gains were also manifested on feeding practices, maternal anxiety, worry and appraisal of their situation. Conclusions A programme of generalizable psychosocial interventions is shown to have a positive impact on the infant with severe congenital heart disease and the mother. PMID:19961494

  1. 3D Printing to Guide Ventricular Assist Device Placement in Adults With Congenital Heart Disease and Heart Failure.

    PubMed

    Farooqi, Kanwal M; Saeed, Omar; Zaidi, Ali; Sanz, Javier; Nielsen, James C; Hsu, Daphne T; Jorde, Ulrich P

    2016-04-01

    As the population of adults with congenital heart disease continues to grow, so does the number of these patients with heart failure. Ventricular assist devices are underutilized in adults with congenital heart disease due to their complex anatomic arrangements and physiology. Advanced imaging techniques that may increase the utilization of mechanical circulatory support in this population must be explored. Three-dimensional printing offers individualized structural models that would enable pre-surgical planning of cannula and device placement in adults with congenital cardiac disease and heart failure who are candidates for such therapies. We present a review of relevant cardiac anomalies, cases in which such models could be utilized, and some background on the cost and procedure associated with this process. PMID:27033018

  2. Identifying improvements to complex pathways: evidence synthesis and stakeholder engagement in infant congenital heart disease

    PubMed Central

    Crowe, Sonya; Knowles, Rachel; Wray, Jo; Tregay, Jenifer; Ridout, Deborah A; Utley, Martin; Franklin, Rodney; Bull, Catherine L; Brown, Katherine L

    2016-01-01

    Objectives Many infants die in the year following discharge from hospital after surgical or catheter intervention for congenital heart disease (3–5% of discharged infants). There is considerable variability in the provision of care and support in this period, and some families experience barriers to care. We aimed to identify ways to improve discharge and postdischarge care for this patient group. Design A systematic evidence synthesis aligned with a process of eliciting the perspectives of families and professionals from community, primary, secondary and tertiary care. Setting UK. Results A set of evidence-informed recommendations for improving the discharge and postdischarge care of infants following intervention for congenital heart disease was produced. These address known challenges with current care processes and, recognising current resource constraints, are targeted at patient groups based on the number of patients affected and the level and nature of their risk of adverse 1-year outcome. The recommendations include: structured discharge documentation, discharging certain high-risk patients via their local hospital, enhanced surveillance for patients with certain (high-risk) cardiac diagnoses and an early warning tool for parents and community health professionals. Conclusions Our recommendations set out a comprehensive, system-wide approach for improving discharge and postdischarge services. This approach could be used to address challenges in delivering care for other patient populations that can fall through gaps between sectors and organisations. PMID:27266768

  3. [The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis].

    PubMed

    Baquero-Artigao, F; del Castillo Martín, F; Fuentes Corripio, I; Goncé Mellgren, A; Fortuny Guasch, C; de la Calle Fernández-Miranda, M; González-Tomé, M I; Couceiro Gianzo, J A; Neth, O; Ramos Amador, J T

    2013-08-01

    Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection. PMID:23352717

  4. Changes in perceived health of children with congenital heart disease after attending a special sports camp.

    PubMed

    Moons, P; Barrea, C; De Wolf, D; Gewillig, M; Massin, M; Mertens, L; Ovaert, C; Suys, B; Sluysmans, T

    2006-01-01

    Sports camps for children with cardiac anomalies have existed for many years. However, no formal evaluation of the benefits of attending such camps has been undertaken heretofore. We assessed potential changes in the self-perceived health of children with congenital heart disease who attended a special sports camp. Thirty-one children with cardiac anomalies attended a 3-day multisports camp. Sixteen children, all of whom were 10 years or older, literate, and Dutch- or French-speaking, completed the Child Health Questionnaire (CHQ-CF87) before and after attending the camp. The scores of the children were compared with those of healthy peers by calculating mean standardized differences. After attendance at the sports camp, the children achieved significant improvements in the self-perception of their physical functioning, role functioning due to emotional problems, role functioning due to behavioral problems, mental health, and general behavior. The children's self-esteem and general behavior after the camp were significantly better than that of their healthy counterparts. We conclude that children with congenital heart disease who participate in activities at special sports camps may reap benefits in terms of their subjective health status. Although further research is needed, we recommend the participation in sport activities by children with heart defects, and more specifically their participation in sports camps.

  5. [The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis].

    PubMed

    Baquero-Artigao, F; del Castillo Martín, F; Fuentes Corripio, I; Goncé Mellgren, A; Fortuny Guasch, C; de la Calle Fernández-Miranda, M; González-Tomé, M I; Couceiro Gianzo, J A; Neth, O; Ramos Amador, J T

    2013-08-01

    Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection.

  6. Cyanotic congenital heart disease (CCHD): focus on hypoxemia, secondary erythrocytosis, and coagulation alterations.

    PubMed

    Zabala, Luis M; Guzzetta, Nina A

    2015-10-01

    Children with cyanotic congenital heart disease (CCHD) have complex alterations in their whole blood composition and coagulation profile due to long-standing hypoxemia. Secondary erythrocytosis is an associated physiological response intended to increase circulating red blood cells and oxygen carrying capacity. However, this response is frequently offset by an increase in whole blood viscosity that paradoxically reduces blood flow and tissue perfusion. In addition, the accompanying reduction in plasma volume leads to significant deficiencies in multiple coagulation proteins including platelets, fibrinogen and other clotting factors. On the one hand, these patients may suffer from severe hyperviscosity and subclinical 'sludging' in the peripheral vasculature with an increased risk of thrombosis. On the other hand, they are at an increased risk for postoperative hemorrhage due to a complex derangement in their hemostatic profile. Anesthesiologists caring for children with CCHD and secondary erythrocytosis need to understand the pathophysiology of these alterations and be aware of available strategies that lessen the risk of bleeding and/or thrombosis. The aim of this review is to provide an updated analysis of the systemic effects of long-standing hypoxemia in children with primary congenital heart disease with a specific focus on secondary erythrocytosis and hemostasis.

  7. Infection and White Matter Injury in Infants with Congenital Heart Disease

    PubMed Central

    Glass, Hannah C.; Bowman, Chelsea; Chau, Vann; Moosa, Alisha; Hersh, Adam L.; Campbell, Andrew; Poskitt, Kenneth; Azakie, Anthony; Barkovich, A. James; Miller, Steven P; McQuillen, Patrick S

    2011-01-01

    More than 60 percent of newborns with severe congenital heart disease develop perioperative brain injuries. Known risk factors include: preoperative hypoxemia, cardiopulmonary bypass characteristics, and postoperative hypotension. Infection is an established risk factor for white matter injury in premature newborns. In this study, we examined term infants with congenital heart disease requiring surgical repair to determine whether infection is associated with white matter injury. Acquired infection was specified by site (bloodstream, pneumonia, or surgical site infection) according to strict definitions. Infection was present in 23/127. Pre and post-operative imaging was evaluated for acquired injury by a pediatric neuroradiologist. Overall, there was no difference in newly acquired postoperative white matter injury in infants with infection (30 percent), compared to those without (31 percent). When stratified by anatomy, infants with transposition of the great arteries and bloodstream infection had an estimated doubling of risk of white matter injury that was not significant, whereas those with single ventricle anatomy had no apparent added risk. When considering only infants without stroke, the estimated association was higher, and became significant after adjusting for duration of inotrope therapy. In this study, nosocomial infection was not associated with white matter injury. Nonetheless, when controlling for risk factors, there was an association between bloodstream infection and white matter injury in selected sub-populations. Infection prevention may have the potential to mitigate long-term neurologic impairment as a consequence of white matter injury, which underscores the importance of attention to infection control for these patients. PMID:21554828

  8. Single ventricle, bicuspid aorta and interatrial wall aneurysm as a rare complex adult congenital heart disease: a case report

    PubMed Central

    2009-01-01

    Background Single ventricle, bicuspid aortic valve and interatrial wall aneurysm in adulthood are a rare and unique case in medical literature. This presented case with congenital heart disease has never been treated surgically and clinical consequences seriously presented in adulthood. Case presentation A 27 year old man with complex congenital heart disease presented. At the age of six, the single ventricle was ultrasonographly diagnosed, but at age 27 clinical consequences started to be seriously present. We explored his history, clinical course, physical examination, laboratory findings, medical treatments and actual patient condition. Conclusion The possibilities for surgical evaluation are presented. PMID:19183494

  9. Critical decision of operability in congenital heart disease patient with severe pulmonary hypertension

    PubMed Central

    Joshi, Raja; Kalra, Rajat; Kumar, Neeraj; Aggarwal, Neeraj; Joshi, Reena K.; Aggarwal, Mridul; Pandey, Rakesh

    2016-01-01

    Repair of congenital heart disease in the presence of high pulmonary pressure has always been a contentious issue. Pulmonary vascular resistance (PVR) is considered important for establishing operability in these patients. However, PVR estimation is not always accurate and cannot solely be relied upon to make critical decision of operability. Clinical examination, chest X-ray, and echocardiography are also important indicators of pulmonary vascular disease. Knowledge of pits and falls of each investigation is important for appropriate management in these patients. We present a case report of successfully operated, 6-year-old child with anomalous origin of the right pulmonary artery from aorta, deemed inoperable on the basis of PVR estimation. PMID:27716711

  10. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer.

    PubMed

    Conti, Simon L; Eisenberg, Michael L

    2016-01-01

    As couples are increasingly delaying parenthood, the effect of the aging men and women on reproductive outcomes has been an area of increased interest. Advanced paternal age has been shown to independently affect the entire spectrum of male fertility as assessed by reductions in sperm quality and fertilization (both assisted and unassisted). Moreover, epidemiological data suggest that paternal age can lead to higher rates of adverse birth outcomes and congenital anomalies. Mounting evidence also suggests increased risk of specific pediatric and adult disease states ranging from cancer to behavioral traits. While disease states associated with advancing paternal age have been well described, consensus recommendations for neonatal screening have not been as widely implemented as have been with advanced maternal age. PMID:26975491

  11. Loss of RNA expression and allele-specific expression associated with congenital heart disease

    PubMed Central

    McKean, David M.; Homsy, Jason; Wakimoto, Hiroko; Patel, Neil; Gorham, Joshua; DePalma, Steven R.; Ware, James S.; Zaidi, Samir; Ma, Wenji; Patel, Nihir; Lifton, Richard P.; Chung, Wendy K.; Kim, Richard; Shen, Yufeng; Brueckner, Martina; Goldmuntz, Elizabeth; Sharp, Andrew J.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, J. G.

    2016-01-01

    Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects. Here we show that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression—this cardiac-specific phenomenon seems unrelated to CHD. Further, compared with control subjects, CHD subjects have a significant burden of both LOE genes and ASE events associated with altered gene expression. These studies identify FGFBP2, LBH, RBFOX2, SGSM1 and ZBTB16 as candidate CHD genes because of significantly altered transcriptional expression. PMID:27670201

  12. The importance of early involvement of paediatric palliative care for patients with severe congenital heart disease.

    PubMed

    Bertaud, Sophie; Lloyd, David F A; Laddie, Joanna; Razavi, Reza

    2016-10-01

    Growing numbers of patients with severe congenital heart disease (CHD) are surviving into late childhood and beyond. This increasingly complex patient group may experience multiple formidable and precarious interventions, lifelong morbidity and the very real risk of premature death on many occasions throughout their childhood. In this paper, we discuss the advantages of a fully integrated palliative care ethos in patients with CHD, offering the potential for improved symptom control, more informed decision-making and enhanced support for patients and their families throughout their disease trajectory. These core principles may be delivered alongside expert cardiac care via non-specialists within pre-existing networks or via specialists in paediatric palliative care when appropriate. By broaching these complex issues early-even from the point of diagnosis-an individualised set of values can be established around not just end-of-life but also quality-of-life decisions, with clear benefits for patients and their families regardless of outcome.

  13. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer

    PubMed Central

    Conti, Simon L; Eisenberg, Michael L

    2016-01-01

    As couples are increasingly delaying parenthood, the effect of the aging men and women on reproductive outcomes has been an area of increased interest. Advanced paternal age has been shown to independently affect the entire spectrum of male fertility as assessed by reductions in sperm quality and fertilization (both assisted and unassisted). Moreover, epidemiological data suggest that paternal age can lead to higher rates of adverse birth outcomes and congenital anomalies. Mounting evidence also suggests increased risk of specific pediatric and adult disease states ranging from cancer to behavioral traits. While disease states associated with advancing paternal age have been well described, consensus recommendations for neonatal screening have not been as widely implemented as have been with advanced maternal age. PMID:26975491

  14. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer.

    PubMed

    Conti, Simon L; Eisenberg, Michael L

    2016-01-01

    As couples are increasingly delaying parenthood, the effect of the aging men and women on reproductive outcomes has been an area of increased interest. Advanced paternal age has been shown to independently affect the entire spectrum of male fertility as assessed by reductions in sperm quality and fertilization (both assisted and unassisted). Moreover, epidemiological data suggest that paternal age can lead to higher rates of adverse birth outcomes and congenital anomalies. Mounting evidence also suggests increased risk of specific pediatric and adult disease states ranging from cancer to behavioral traits. While disease states associated with advancing paternal age have been well described, consensus recommendations for neonatal screening have not been as widely implemented as have been with advanced maternal age.

  15. Variability in Non-Cardiac Surgical Procedures in Children with Congenital Heart Disease

    PubMed Central

    Sulkowski, Jason P.; Cooper, Jennifer N.; McConnell, Patrick I.; Pasquali, Sara K.; Shah, Samir S.; Minneci, Peter C.; Deans, Katherine J.

    2014-01-01

    Background The purpose of this study was to examine the volume and variability of non-cardiac surgeries performed in children with congenital heart disease (CHD) requiring cardiac surgery in the first year of life. Methods Patients who underwent cardiac surgery by 1 year of age and had a minimum 5-year follow-up at 22 of the hospitals contributing to the Pediatric Health Information System database between 2004–2012 were included. Frequencies of non-cardiac surgical procedures by age 5 years were determined and categorized by subspecialty. Patients were stratified according to their maximum RACHS-1 (Risk Adjustment in Congenital Heart Surgery) category. The proportions of patients across hospitals who had a non-cardiac surgical procedure for each subspecialty were compared using logistic mixed effects models. Results 8,857 patients underwent congenital heart surgery during the first year of life, 3,621 (41%) of whom had 13,894 non-cardiac surgical procedures by 5 years. Over half of all procedures were in general surgery (4,432; 31.9%) or otolaryngology (4,002; 28.8%). There was significant variation among hospitals in the proportion of CHD patients having non-cardiac surgical procedures. Compared to children in the low risk group (RACHS-1 categories 1–3), children in the high-risk group (categories 4–6) were more likely to have general, dental, orthopedic, and thoracic procedures. Conclusions Children with CHD requiring cardiac surgery frequently also undergo non-cardiac surgical procedures; however, considerable variability in the frequency of these procedures exists across hospitals. This suggests a lack of uniformity in indications used for surgical intervention. Further research should aim to better standardize care for this complex patient population. PMID:25475794

  16. The Application of an Anatomical Database for Fetal Congenital Heart Disease

    PubMed Central

    Yang, Li; Pei, Qiu-Yan; Li, Yun-Tao; Yang, Zhen-Juan

    2015-01-01

    Background: Fetal congenital heart anomalies are the most common congenital anomalies in live births. Fetal echocardiography (FECG) is the only prenatal diagnostic approach used to detect fetal congenital heart disease (CHD). FECG is not widely used, and the antenatal diagnosis rate of CHD varies considerably. Thus, mastering the anatomical characteristics of different kinds of CHD is critical for ultrasound physicians to improve FECG technology. The aim of this study is to investigate the applications of a fetal CHD anatomic database in FECG teaching and training program. Methods: We evaluated 60 transverse section databases including 27 types of fetal CHD built in the Prenatal Diagnosis Center in Peking University People's Hospital. Each original database contained 400–700 cross-sectional digital images with a resolution of 3744 pixels × 5616 pixels. We imported the database into Amira 5.3.1 (Australia Visage Imaging Company, Australia) three-dimensional (3D) software. The database functions use a series of 3D software visual operations. The features of the fetal CHD anatomical database were analyzed to determine its applications in FECG continuing education and training. Results: The database was rebuilt using the 3D software. The original and rebuilt databases can be displayed dynamically, continuously, and synchronically and can be rotated at arbitrary angles. The sections from the dynamic displays and rotating angles are consistent with the sections in FECG. The database successfully reproduced the anatomic structures and spatial relationship features of different fetal CHDs. We established a fetal CHD anatomy training database and a standardized training database for FECG. Ultrasound physicians and students can learn the anatomical features of fetal CHD and FECG through either centralized training or distance education. Conclusions: The database of fetal CHD successfully reproduced the anatomic structures and spatial relationship of different kinds of

  17. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.

    PubMed

    Ho, Genevieve; Cardamone, Michael; Farrar, Michelle

    2015-11-01

    Myotonic dystrophy type 1 (DM1) is multisystem disease arising from mutant CTG expansion in the non-translating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrophy, with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of clinical severity, ranging from mild to severe, which correlates with number of DNA repeats. Importantly, the early clinical manifestations and management in congenital and childhood DM1 differ from classic adult DM1. In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognised yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counselling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation, as is assisting with family planning and undertaking cascade testing to instigate health surveillance in affected family members. This review incorporates discussion of the clinical manifestations and management of congenital and childhood DM1, with a particular focus on hypersomnolence and sleep disorders. In addition, the molecular genetics, mechanisms of disease pathogenesis and development of novel treatment strategies in DM1 will be summarised. PMID:26566479

  18. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions

    PubMed Central

    Ho, Genevieve; Cardamone, Michael; Farrar, Michelle

    2015-01-01

    Myotonic dystrophy type 1 (DM1) is multisystem disease arising from mutant CTG expansion in the non-translating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrophy, with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of clinical severity, ranging from mild to severe, which correlates with number of DNA repeats. Importantly, the early clinical manifestations and management in congenital and childhood DM1 differ from classic adult DM1. In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognised yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counselling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation, as is assisting with family planning and undertaking cascade testing to instigate health surveillance in affected family members. This review incorporates discussion of the clinical manifestations and management of congenital and childhood DM1, with a particular focus on hypersomnolence and sleep disorders. In addition, the molecular genetics, mechanisms of disease pathogenesis and development of novel treatment strategies in DM1 will be summarised. PMID:26566479

  19. Pulmonary Arterial Hypertension Associated with Congenital Heart Disease and Eisenmenger Syndrome: Current Practice in Pediatrics

    PubMed Central

    Frank, David B.; Hanna, Brian D.

    2015-01-01

    Pulmonary arterial hypertension (PAH) is an uncommon but serious disease characterized by severe pulmonary vascular disease and significant morbidity and mortality. PAH associated with congenital heart disease (APAH-CHD) is one etiology of PAH that has innate characteristics delineating it from other forms of PAH. The patient with APAH-CHD presents with unique challenges consisting of not only pulmonary vascular disease but also the complexity of the cardiac lesion. Eisenmenger syndrome (ES) represents the severe end of the spectrum for disease in APAH-CHD. Over time, systemic-to-pulmonary shunting through cardiac defects increases pulmonary vascular resistance to levels significant enough to reverse shunting across the defect. Historically, ES patients have been reported to have better outcomes than IPAH despite similarities in pulmonary vascular disease. However, recent studies are challenging this notion. Nonetheless, APAH-CHD survival has improved with the advent of modern PAH targeted therapies. New therapeutic options have allowed us to reconsider the dogma of inoperability in APAH-CHD patients with unrepaired defects. Certainly advances have been made, however, investigators must continue to advance the field through controlled clinical trials in both adult and pediatric APAH-CHD patients. PMID:25604592

  20. Prevalence of obesity among patients with congenital and acquired heart disease.

    PubMed

    Shustak, Rachel J; McGuire, Sharda B; October, Tessie W; Phoon, Colin K L; Chun, Anne J L

    2012-01-01

    Overweight and obesity rates have risen dramatically in the United States, with subsequent detrimental comorbidity risks. The rates for obesity among children with congenital and acquired heart disease have rarely been reported. A retrospective cross-sectional study was conducted to determine the prevalence of overweight and obesity in children with heart disease and to identify subgroups at increased risk. A total of 795 cases were identified from a chart review of patients presenting to an urban center's Pediatric Cardiology Program between 1 January and 31 December 2006. A body mass index (BMI) at the 85th percentile or higher was defined as overweight, and a BMI at the 95th percentile or higher was defined as obese. Subjects with comorbidities affecting body habitus were excluded from the study. Overall, overweight and obesity rates were similar to national data. No significant differences in overweight or obesity rates were detected between heart disease and non-heart disease groups (P = 0.50). According to multivariate analysis, Hispanic ethnicity and male gender were the only predictors of obesity. This study shows that children with heart disease are not immune to the common predictors of obesity such as gender and ethnicity and that the future care of children with heart disease should include general discussions about the risks for obesity.

  1. Cardiovascular and Neonatal Outcomes in Pregnant Women With High-Risk Congenital Heart Disease.

    PubMed

    Pillutla, Priya; Nguyen, Tina; Markovic, Daniela; Canobbio, Mary; Koos, Brian J; Aboulhosn, Jamil A

    2016-05-15

    Congenital heart disease (CHD) increases the risk of adverse maternal and neonatal outcomes. However, previous studies have included mainly women with low-risk features. A single-center, retrospective analysis of pregnant women with CHD was performed. Inclusion criteria were the following high-risk congenital lesions and co-morbidities: maternal cyanosis; New York Heart Association (NHYA) functional class >II; severe ventricular dysfunction; maternal arrhythmia, single ventricle (SV) physiology, severe left-sided heart obstruction and severe pulmonary arterial hypertension. Multivariate analyses for predictors of adverse maternal cardiovascular and neonatal outcomes were performed. Forty-three women reported 61 pregnancies. There were no maternal or neonatal deaths. Maternal cardiac (31%) and neonatal (54%) complications were frequent. The most frequent cardiac events were pulmonary edema, arrhythmia, and reduced NYHA class. Previous arrhythmia conferred a 12-fold increase in the odds of experiencing at least one major cardiac complication. Maternal SV physiology was an independent risk factor for low birth weight, risk of neonatal intensive care unit admission and lower gestational age. Maternal cyanosis and severe pulmonary arterial hypertension also predicted adverse neonatal outcomes. In conclusion, mothers without antepartum arrhythmia or functional incapacity are unlikely to experience arrhythmias or a decrease in NYHA class during pregnancy. In addition, SV physiology is a robust predictor of neonatal complications. Antepartum counseling and assessment of maternal fitness are crucial for the woman with CHD. PMID:27055756

  2. [Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease].

    PubMed

    Salazar, Marleny; Villalba, Guiovanny; Mateus, Heidi; Villegas, Victoria; Fonseca, Dora; Núñez, Federico; Caicedo, Víctor; Pachón, Sonia; Bernal, Jaime E

    2011-12-01

    Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.

  3. Mutations of TFAP2B in congenital heart disease patients in Mysore, South India

    PubMed Central

    Lingaiah, Kusuma; Sosalagere, Dinesh M.; Mysore, Savitha R.; Krishnamurthy, B.; Narayanappa, Doddaiah; Nallur, Ramachandra B.

    2011-01-01

    Background & objectives: Cardiac malformations in the young constitute a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1 per cent of all live births. Patent ductus arteriosus (PDA) is clinically significant foetal circulation anomaly, second most common form of CHD which constitutes approximately 10 per cent of total CHDs. The study aimed to screen for TFAP2B mutations in CHD patients of Mysore. Methods: With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, south India, were recruited for the analysis of screening of mutations. MassARRAY analysis of 5 prominent mutations of TFAP2B was performed. Results: The analysis did not show any of the five mutations of TFAP2B screened by massARRAY in patients and controls, indicating that these mutations were not involved in the manifestation of CHD in the patients at Mysore, south India. Interpretation & Conclusions: The findings suggest the lack of involvement of known mutations of TFAP2B with syndromic or nonsyndromic CHDs in Mysore patients. PMID:22199100

  4. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

    PubMed

    Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen

    2013-02-15

    Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome.

  5. Aristotle score predicts outcome in patients requiring extracorporeal circulatory support following repair of congenital heart disease.

    PubMed

    Derby, Christopher D; Kolcz, Jacek; Kerins, Paul J; Duncan, Daniel R; Quezada, Emilio; Pizarro, Christian

    2007-01-01

    Extracorporeal membrane oxygenation (ECMO) has become the standard technique of mechanical support for the failing circulation following repair of congenital heart lesions. The objective of this study was to identify predictors of survival in patients requiring postcardiotomy ECMO. The Aristotle score, a method developed to evaluate quality of care based on complexity, was investigated as a potential predictor of outcome. Between 2003 and 2005, 37 patients required ECMO following corrective surgery for congenital heart disease. Records were reviewed retrospectively with emphasis on factors affecting survival to discharge. The comprehensive Aristotle complexity score was calculated for each patient. Overall, 28 patients (76%) survived to decannulation and 17 patients (46%) survived to discharge. There were 24 (65%) neonates and 10 patients (27%) with single ventricle physiology, with a hospital survival of 42% (10 of 24) and 50% (5 of 10), respectively. Univariate factors associated with survival included Aristotle score, duration of support, reexploration, multiple organ failure, and number of complications. Age, weight, and single-ventricle physiology were not significant. In a logistic regression model, an Aristotle score < 14 was identified as a predictor of survival (OR 0.12, CI 0.02-0.87). The Aristotle score is predictive of outcome in patients requiring postcardiotomy ECMO and may serve as a uniform criterion when comparing and evaluating quality of care and performance in this complex patient population.

  6. The Burden of Care: Mothers’ Experiences of Children with Congenital Heart Disease

    PubMed Central

    Sabzevari, Sakinne; Nematollahi, Monirsadat; Mirzaei, Tayebeh; Ravari, Ali

    2016-01-01

    ABSTRACT Background: Mothers play a key role in caring for their sick children. Their experiences of care were influenced by culture, rules, and the system of health and care services. There are few studies on maternal care of children with congenital heart disease. Also, each of them has studied a particular aspect of care. The present research aimed to understand care experiences of mothers of children with congenital heart disease. Methods: A conventional content analysis was used to obtain rich data. The goal of content analysis is “to provide knowledge and deeper understanding of the phenomenon under the study”. The study was conducted in Kerman, Iran in 2014, on mothers of children with CHD. The purposive sampling technique was used to select the participants. Participants were 14 mothers of children with CHD and one father and one nurse of open heart surgery unit, from two hospitals affiliated with Kerman University of Medical Sciences. Eighteen semi-structured interviews were constructed. Data were analyzed using conventional content analysis. MAXQDA 2007 software (VERBI GmbH, Berlin, Germany) was used to classify and manage the coding. Constant comparative method was done for data analysis. The reliability and validity of the findings, including the credibility, confirm ability, dependability, and transferability, were assessed. Results: According to the content analysis, the main theme was the catastrophic burden of child care on mothers that included three categories: 1) the tension resulting from the disease, 2) involvement with internal thoughts, and 3) difficulties of care process Conclusion: The results of this study may help health care professionals to provide supportive and educational packages to the patients, mothers and Family members until improving the management of patient’s care. PMID:27713900

  7. A pilot study of Bifidobacterium breve in neonates undergoing surgery for congenital heart disease

    PubMed Central

    2014-01-01

    Background Probiotics have currently been widely used in patients undergoing various types of surgeries and improved their clinical outcomes, while data in pediatric cardiac surgery have been lacking. We investigated the safety and effects on the intestinal microbiota of the probiotic Bifidobacterium breve in neonates undergoing surgery for congenital heart disease. Methods This pilot, randomized study was performed in a single-center, university hospital-based pediatric intensive care unit (PICU). Twenty-one neonates undergoing surgery for congenital heart disease at >7 days after birth were randomly allocated to two groups: group A received 3 × 109 colony-forming units (CFU)/day of enteral B. breve strain Yakult (BBG-01), which was started 1 week before and terminated 1 week after surgery (n = 10), and group B did not receive BBG-01 (n = 11). Results The characteristics of the patients were similar in both groups. The postoperative days until fulfillment of the criteria for discharge from the PICU tended to be fewer in group A (8 [7–8] days) than in group B (9 [8–14] days) (p = 0.10). Likewise, the postoperative days to enteral nutrition or achievement of caloric goal tended to be fewer in group A than in group B. The Bifidobacterium in fecal samples after initiating BBG-01 in group A were significantly higher in number than that in group B. Enterobacteriaceae were significantly fewer in group A than in group B immediately (7.0 [3.9–7.7] vs. 8.5 [8.0–9.1] log10 cells/g) and 1 week (7.7 [7.0–8.1] vs. 9.3 [8.6–9.5] log10 cells/g) after surgery (p < 0.05 for both comparisons). The number of Pseudomonas after 1 week was significantly lower in group A than in group B (p = 0.04). The concentrations of total organic and acetic acids were also significantly higher in group A than in group B. The postoperative course was uncomplicated and all neonates were discharged alive from the PICU. Conclusions The perioperative

  8. What do adult patients with congenital heart disease know about their disease, treatment, and prevention of complications? A call for structured patient education

    PubMed Central

    Moons, P; De Volder, E; Budts, W; De Geest, S; Elen, J; Waeytens, K; Gewillig, M

    2001-01-01

    OBJECTIVE—To assess how much adults with congenital heart disease understand about their heart defect, its treatment, and the preventive measures necessary to avoid complications.
DESIGN—Descriptive, cross sectional study.
SETTING—Adult congenital heart disease programme in one tertiary care centre in Belgium.
PATIENTS—62 adults with congenital heart disease (47 men; 15 women), median age 23 years.
MAIN OUTCOME MEASURES—Patients' knowledge was assessed during an outpatient visit using the Leuven knowledge questionnaire for congenital heart diseases, a 33 item instrument developed for this study.
RESULTS—Patients had adequate knowledge (> 80% correct answers) about their treatment, frequency of follow up, dental practices, occupational choices, appropriateness of oral contraceptives, and the risks of pregnancy. Knowledge about the name and anatomy of the heart defect, the possibility of recurrent episodes of endocarditis during their lifetime, and the appropriateness of different physical activities was moderate (50-80% correct answers). There was poor understanding (< 50% correct answers) about the reasons for follow up, the symptoms of deterioration of the heart disease, the definition, characteristics, and risk factors of endocarditis, the impact of smoking and alcohol on the heart disease, the hereditary nature of the condition, and the suitability of intrauterine devices as contraceptives.
CONCLUSIONS—Adults with congenital heart disease have important gaps in their knowledge about their condition. The results of this study can be used as a basis for developing or optimising structured educational interventions to enhance patients' health behaviour.


Keywords: patient education; congenital heart disease; health behaviour PMID:11410567

  9. Congenital and inherited neurologic diseases in dogs and cats: Legislation and its effect on purchase in Italy.

    PubMed

    Passantino, Annamaria; Masucci, Marisa

    2016-05-01

    Many of the congenital neurologic diseases can result in incapacity or death of the animal. Some of them, such as idiopathic epilepsy and hydrocephalus, exhibit breed or familial predisposition and a genetic basis was proved or suggested. Some diseases can be presumptively diagnosed after a detailed signalment (breed predisposition), history (e.g. family history because many of these defects have familial tendencies), and through physical exam; other diagnostic methods (radiography, computed tomography, magnetic resonance, electrophysiologic tests, etc.) can provide supportive evidence for the congenital defect and help to confirm the diagnosis. Some cases can lead to civil law-suits when the lesions are congenital, but not easily recognizable, or when the lesions are hereditary but tend to became manifest only after some time (more than 12 months after the date of purchase, e.g., after the vice-free guarantee period has expired). Moreover, quite frequently an early diagnosis is not made because there are delays in consulting the veterinarian or the general practitioner veterinarian does not perceive subtle signs. This study was designed to focus on the medico-legal aspects concerning the buying and selling in Italy of dogs and cats affected by congenital and hereditary neurologic diseases that could constitute vice in these animals. While adequate provisions to regulate in detail the various aspects of pet sale have still to be drawn up by legislators, it may be helpful to involve breeders, by obliging them by contract to extend guarantees in the case of hereditary lesions, including neurologic diseases.

  10. Migration of an abandoned pacemaker generator into the pouch of Douglas in a child with complex congenital heart disease.

    PubMed

    May, Joseph W; Shmorhun, Daniel P

    2007-07-01

    A young girl with complex congenital heart disease underwent Fontan procedure and multiple pacemaker revisions, including abandonment of an intraabdominal pacemaker generator at age eight. She presented two years later with constipation and abdominal twitching. Radiographs, pacemaker interrogation, and laparoscopy confirmed dislocation of the abandoned generator and intraperitoneal migration into the pouch of Douglas. The device was removed surgically without incident.

  11. Diagnosis of congenital von Willebrand disease during a preoperative assessment in a multiple myeloma patient without bleeding history.

    PubMed

    El Ouaaliti, Malika; Li, Rong; Gobin, Delphine; Bron, Dominique; Cantinieaux, Brigitte

    2016-07-01

    We report a rare case of type 2M von Willebrand disease diagnosed in an elderly multiple myeloma patient who had no personal and family bleeding history. This case report emphasis the importance to not systematically exclude a congenital vWD in adult patients when coagulation screening tests indicate toward a vWD. PMID:27386134

  12. Screening and Characterization of Spontaneous Porcine Congenital Heart Defects for Gene Identification and Models of Human Disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Background: Rodent models of human congenital birth defects have been instrumental for gene discovery and investigation of mechanisms of disease. However, these models are limited by their small size making practiced intervention or detailed anatomic evaluation difficult. Swine have similar anato...

  13. "What I Wish You Knew": Social Barriers toward Physical Activity in Youth with Congenital Heart Disease (CHD)

    ERIC Educational Resources Information Center

    Moola, Fiona; Fusco, Caroline; Kirsh, Joel A.

    2011-01-01

    Despite the benefits of physical activity for youth with congenital heart disease (CHD), most patients are inactive. Although literature has addressed medical and psychological barriers to participation, little is known about the social barriers that youth encounter. This qualitative study explored sociocultural barriers to physical activity from…

  14. Providing Guidance for School Personnel Making Decisions in the Service of School Children with Congenital Heart Disease

    ERIC Educational Resources Information Center

    Roberts, Jillian; MacMath, Sheryl

    2006-01-01

    Due to improved medical procedures, more and more children with congenital heart disease are entering the school system. In order to help both school and health professionals involved in the education of children, we provide a brief review of the literature, review real-life dilemmas that school personnel face on a daily basis, and interpret the…

  15. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  16. Cellular and molecular basis of RV hypertrophy in congenital heart disease.

    PubMed

    Iacobazzi, D; Suleiman, M-S; Ghorbel, M; George, S J; Caputo, M; Tulloh, R M

    2016-01-01

    RV hypertrophy (RVH) is one of the triggers of RV failure in congenital heart disease (CHD). Therefore, improving our understanding of the cellular and molecular basis of this pathology will help in developing strategic therapeutic interventions to enhance patient benefit in the future. This review describes the potential mechanisms that underlie the transition from RVH to RV failure. In particular, it addresses structural and functional remodelling that encompass contractile dysfunction, metabolic changes, shifts in gene expression and extracellular matrix remodelling. Both ischaemic stress and reactive oxygen species production are implicated in triggering these changes and will be discussed. Finally, RV remodelling in response to various CHDs as well as the potential role of biomarkers will be addressed.

  17. Is Pulse Oximetry Useful for Screening Neonates for Critical Congenital Heart Disease at High Altitudes?

    PubMed

    Hoffman, Julien I E

    2016-06-01

    Now that pulse oximetry is used widely to screen for critical congenital heart disease, it is time to consider whether this screening method is applicable to those who live at high altitudes. Consideration of basic physical principles and reports from the literature indicate that not only is the 95 % cutoff point for arterial oxygen saturation incorrect at high altitudes, but the lower saturations are accompanied by greater variability and therefore there is the possibility of a greater percentage of false-positive screening tests at high altitudes. Because of ethnic differences in response to high altitudes, normative data will have to be collected separately in different countries and perhaps for different ethnic groups.

  18. APN plan improves outcome for pregnant patient with congenital heart disease.

    PubMed

    Haynes, Annette; Frederick, Andrea; Chirkoff, Andrea

    2012-01-01

    Advanced practice nurses work in many roles to support delivery of safe patient care. Eighty-five percent of children born with congenital heart disease (CHD) live to adulthood. The pregnant adult with CHD presents challenges for nursing across many care-delivery systems. Progression of care delivery across these systems requires innovative planning and organization. This article describes the plan developed by advanced practice nurses in a CHD clinic and in inpatient coronary care and obstetric units to support a pregnant patient with CHD. The plan focused on collaboration and communication among interdisciplinary teams. The goal was to address multidisciplinary communication, leadership, and staff education. The result was a successful high-risk delivery with organized education and patient care across systems. PMID:22543487

  19. Universal Pulse Oximetry Screening for Early Detection of Critical Congenital Heart Disease

    PubMed Central

    Kumar, Praveen

    2016-01-01

    Critical congenital heart disease (CCHD) is a major cause of infant death and morbidity worldwide. An early diagnosis and timely intervention can significantly reduce the likelihood of an adverse outcome. However, studies from the United States and other developed countries have shown that as many as 30%–50% of infants with CCHD are discharged after birth without being identified. This diagnostic gap is likely to be even higher in low-resource countries. Several large randomized trials have shown that the use of universal pulse-oximetry screening (POS) at the time of discharge from birth hospital can help in early diagnosis of these infants. The objective of this review is to share data to show that the use of POS for early detection of CCHD meets the criteria necessary for inclusion to the universal newborn screening panel and could be adopted worldwide. PMID:27279759

  20. Interventional and surgical treatment of cardiac arrhythmias in adults with congenital heart disease.

    PubMed

    Koyak, Zeliha; de Groot, Joris R; Mulder, Barbara J M

    2010-12-01

    Arrhythmias are a major cause of morbidity, mortality and hospital admission in adults with congenital heart disease (CHD). The etiology of arrhythmias in this population is often multifactorial and includes electrical disturbances as part of the underlying defect, surgical intervention or hemodynamic abnormalities. Despite the numerous existing arrhythmia management tools including drug therapy, pacing and ablation, management of arrhythmias in adults with CHD remains difficult and challenging. Owing to improvement in mapping and ablation techniques, ablation and arrhythmia surgery are being performed more frequently in adults with CHD. However, there is little information on the long-term results of these treatment strategies. The purpose of this article is therefore to review the available data on nonpharmacological treatment of cardiac arrhythmias in adult patients with CHD and to give an overview of the available data on the early and late outcomes of these treatment strategies.

  1. Cellular and molecular basis of RV hypertrophy in congenital heart disease

    PubMed Central

    Iacobazzi, D; Suleiman, M-S; Ghorbel, M; George, SJ; Caputo, M; Tulloh, RM

    2016-01-01

    RV hypertrophy (RVH) is one of the triggers of RV failure in congenital heart disease (CHD). Therefore, improving our understanding of the cellular and molecular basis of this pathology will help in developing strategic therapeutic interventions to enhance patient benefit in the future. This review describes the potential mechanisms that underlie the transition from RVH to RV failure. In particular, it addresses structural and functional remodelling that encompass contractile dysfunction, metabolic changes, shifts in gene expression and extracellular matrix remodelling. Both ischaemic stress and reactive oxygen species production are implicated in triggering these changes and will be discussed. Finally, RV remodelling in response to various CHDs as well as the potential role of biomarkers will be addressed. PMID:26516182

  2. Legal and Ethical Considerations in Allowing Parental Exemptions From Newborn Critical Congenital Heart Disease (CCHD) Screening.

    PubMed

    Hom, Lisa A; Silber, Tomas J; Ennis-Durstine, Kathleen; Hilliard, Mary Anne; Martin, Gerard R

    2016-01-01

    Critical congenital heart disease (CCHD) screening is rapidly becoming the standard of care in the United States after being added to the Recommended Uniform Screening Panel (RUSP) in 2011. Newborn screens typically do not require affirmative parental consent. In fact, most states allow parents to exempt their baby from receiving the required screen on the basis of religious or personally held beliefs. There are many ethical considerations implicated with allowing parents to exempt their child from newborn screening for CCHD. Considerations include the treatment of religious exemptions in our current legal system, as well as medical and ethical principles in relation to the rights of infants. Although there are significant benefits to screening newborns for CCHD, when a parent refuses for religious or personal beliefs, in the case of CCHD screening, the parental decision should stand.

  3. Performance-related workload in alpine skiing with congenital heart disease

    PubMed Central

    Rosenhagen, Andreas; Hoehn, Rene; Thiel, Christian; Vogt, Lutz; Hofstetter, Roland; Banzer, Winfried

    2009-01-01

    The present case report assesses the individual performance-related workload in three male children with left ventricular outflow tract (LVOT) obstruction during alpine skiing. Spirometric data (VO2) and heart rate (HR) were monitored during alpine skiing in various terrains according to the subject’s performance level. A portable spirometric device was used for on-slope data sampling. Relative workload was calculated in relation to peak cardiorespiratory values, obtained during an incremental laboratory cycle test. On the slope the subjects reached 78% to 103% of their peak ergometric HR and a VO2peak of 65% to 100%. Young beginners and intermediates with LVOT obstruction seem to face a high cardiorespiratory stress during alpine skiing. For the beginner, an additional load is seen during uphill sidestepping with skis. In children suffering from congenital heart disease, physiological aspects of sports activities such as skiing should not be viewed separately from the possibilities of sports participation and social interactions. PMID:21686966

  4. Cellular and molecular basis of RV hypertrophy in congenital heart disease.

    PubMed

    Iacobazzi, D; Suleiman, M-S; Ghorbel, M; George, S J; Caputo, M; Tulloh, R M

    2016-01-01

    RV hypertrophy (RVH) is one of the triggers of RV failure in congenital heart disease (CHD). Therefore, improving our understanding of the cellular and molecular basis of this pathology will help in developing strategic therapeutic interventions to enhance patient benefit in the future. This review describes the potential mechanisms that underlie the transition from RVH to RV failure. In particular, it addresses structural and functional remodelling that encompass contractile dysfunction, metabolic changes, shifts in gene expression and extracellular matrix remodelling. Both ischaemic stress and reactive oxygen species production are implicated in triggering these changes and will be discussed. Finally, RV remodelling in response to various CHDs as well as the potential role of biomarkers will be addressed. PMID:26516182

  5. Ventricular assist device use in congenital heart disease with a comparison to heart transplant.

    PubMed

    Miller, Jacob R; Eghtesady, Pirooz

    2014-09-01

    Despite advances in medical and surgical therapies, some children with congenital heart disease (CHD) are not able to be adequately treated or palliated, leading them to develop progressive heart failure. As these patients progress to end-stage heart failure they pose a unique set of challenges. Heart transplant remains the standard of care; the donor pool, however, remains limited. Following the experience from the adult realm, the pediatric ventricular assist device (VAD) has emerged as a valid treatment option as a bridge to transplant. Due to the infrequent necessity and the uniqueness of each case, the pediatric VAD in the CHD population remains a topic with limited information. Given the experience in the adult realm, we were tasked with reviewing pediatric VADs and their use in patients with CHD and comparing this therapy to heart transplantation when possible.

  6. Anatomical delineation of congenital heart disease using 3D magnetic resonance imaging

    NASA Astrophysics Data System (ADS)

    Adams Bornemeier, Renee; Fellows, Kenneth E.; Fogel, Mark A.; Weinberg, Paul M.

    1994-05-01

    Anatomic delineation of the heart and great vessels is a necessity when managing children with congenital heart disease. Spatial orientation of the vessels and chambers in the heart and the heart itself may be quite abnormal. Though magnetic resonance imaging provides a noninvasive means for determining the anatomy, the intricate interrelationships between many structures are difficult to conceptualize from a 2-D format. Taking the 2-D images and using a volumetric analysis package allows for a 3-D replica of the heart to be created. This model can then be used to view the anatomy and spatial arrangement of the cardiac structures. This information may be utilized by the physicians to assist in the clinical management of these children.

  7. Databases for assessing the outcomes of the treatment of patients with congenital and paediatric cardiac disease--the perspective of anaesthesia.

    PubMed

    Vener, David F; Jacobs, Jeffrey P; Schindler, Ehrenfried; Maruszewski, Bohdan; Andropoulos, Dean

    2008-12-01

    surgery and anaesthesia database is another step towards the ultimate goal of creating a database for congenital heart disease that spans both geographical and subspecialty boundaries.

  8. Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.

    PubMed

    Mazen, Inas; Amin, Heba; Kamel, Alaa; El Ruby, Mona; Bignon-Topalovic, Joelle; Bashamboo, Anu; McElreavey, Ken

    2016-01-01

    Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 25% of all major congenital anomalies leading to mortality in the first year of life. Extracardiac anomalies including urogenital aberrations are present in ∼30% of all cases. Here, we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype. PMID:27055092

  9. Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population

    PubMed Central

    Li, Huiqing; Cherry, Sheila; Klinedinst, Donna; DeLeon, Valerie; Redig, Jennifer; Reshey, Benjamin; Chin, Michael T.; Sherman, Stephanie L.; Maslen, Cheryl L.; Reeves, Roger H.

    2012-01-01

    Background About half of people with Down syndrome (DS) exhibit some form of congenital heart disease (CHD). However, trisomy for human chromosome 21 (Hsa21) alone is insufficient to cause CHD as half of all people with DS have a normal heart, suggesting that genetic modifiers interact with dosage sensitive gene(s) on Hsa21 to result in CHD. We hypothesize that a threshold exists in both Down syndrome and euploid populations for the number of genetic perturbations that can be tolerated before CHD results. Methods and Results We ascertained a group of individuals with DS and complete atrioventricular septal defect (AVSD) and sequenced two candidate genes for CHD, CRELD1, which is associated with AVSD in people with or without DS, and HEY2, whose mouse ortholog produces septal defects when mutated. Several deleterious variants were identified but the frequency of these potential modifiers was low. We crossed mice with mutant forms of these potential modifiers to the Ts65Dn mouse model of Down syndrome. Crossing loss-of-function alleles of either Creld1 or Hey2 onto the trisomic background caused a significant increase in the frequency of CHD, demonstrating an interaction between the modifiers and trisomic genes. We showed further that although either of these mutant modifiers is benign by itself, they interact to affect heart development when inherited together. Conclusions Using mouse models of Down syndrome and of genes associated with congenital heart disease we demonstrate a biological basis for an interaction that supports a threshold hypothesis for additive effects of genetic modifiers in the sensitized trisomic population. PMID:22523272

  10. Association between 5, 10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and congenital heart disease: A meta-analysis☆

    PubMed Central

    Wang, Wenju; Hou, Zongliu; Wang, Chunhui; Wei, Chuanyu; Li, Yaxiong; Jiang, Lihong

    2013-01-01

    Background Inconsistent results were reported in recent literature regarding the association between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and the susceptibility of congenital heart disease (CHD). In this study, we performed a meta-analysis to investigate the associations by employing multiple analytical methods. Methods Literature search was performed and published articles were obtained from PubMed, Embase and CNKI databases based on the exclusion and inclusion criteria. Data were extracted from eligible studies and the crude odds ratios and their corresponding 95% confidence intervals (CIs) were calculated using random or fix effects model to evaluate the associations between the MTHFR C677T/A1298C polymorphisms and CHD development. Subgroup based analysis was performed by Hardy–Weinberg equilibrium, ethnicity, types of CHD, source of control and sample size. Results Twenty-four eligible studies were included in this meta-analysis. Significant association was found between fetal MTHFR C677T polymorphism and CHD development in all genetic models. The pooled ORs and 95% CIs in all genetic models indicated that MTHFR C677T polymorphism was significantly associated with CHD in Asian, but not Caucasian in subgroup analysis. The maternal MTHFR C677T polymorphism was not associated with CHD except for recessive model. Moreover, neither maternal nor fetal MTHFR A1298C polymorphism was associated with CHD. Conclusion The fetal MTHFR C677T polymorphism may increase the susceptibility to CHD. Fetal MTHFR C677T polymorphism was more likely to affect Asian fetus than Caucasian. The MTHFR A1298C polymorphism may not be a risk of congenital heart disease. PMID:25606381

  11. Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease

    PubMed Central

    Hülsmeier, Andreas J.; Tobler, Micha; Burda, Patricie; Hennet, Thierry

    2016-01-01

    Glycosylation is an integral part in health and disease, as emphasized by the growing number of identified glycosylation defects. In humans, proteins are modified with a diverse range of glycoforms synthesized in complex biosynthetic pathways. Glycosylation disorders have been described in congenital disorders of glycosylation (CDG) as well as in acquired disease conditions such and non-alcoholic fatty liver disease (NAFLD). A hallmark in a subset of CDG cases is the reduced glycosylation site occupancy of asparagine-linked glycans. Using an optimized method protocol, we determined the glycosylation site occupancy from four proteins of hepatic and lymphatic origin from CDG and NAFLD patients. We found variable degrees of site occupancy, depending on the tissue of origin and the disease condition. In CDG glycosylation sites of IgG2 and IgA1 were occupied to normal levels. In NAFLD haptoglobin and transferrin glycosylation sites were hyper-glycosylated, a property qualifying for its use as a potential biomarker. Furthermore, we observed, that glycosylation sites of liver-originating transferrin and haptoglobin are differentially occupied under physiological conditions, a further instance not noticed in serum proteins to date. Our findings suggest the use of serum protein hyperglycosylation as a biomarker for early stages of NAFLD. PMID:27725718

  12. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  13. Asymmetrical Dimethylarginine - More Sensitive than NT-proBNP to Diagnose Heart Failure in Adults with Congenital Heart Disease

    PubMed Central

    Bode-Böger, Stefanie M.; Martens-Lobenhoffer, Jens; Lovric, Svjetlana; Bauersachs, Johann; Schieffer, Bernhard; Westhoff-Bleck, Mechthild; Kielstein, Jan T.

    2012-01-01

    Background Chronic heart failure is an important cause for morbidity and mortality in adults with congenital heart disease (ACHD). While NT-proBNP is an established biomarker for heart failure of non-congenital origin, its value in ACHD has limitations. Asymmetrical dimethylarginine (ADMA) correlates with disease severity and independently predicts adverse clinical events in heart failure of non-congenital origin. Its role in ACHD has not been investigated. Methods In 102 patients ADMA and NT-proBNP were measured and related to NYHA class, systemic ventricular function and parameters of cardiopulmonary exercise testing. Results In contrast to NT-proBNP ADMA differentiated between NYHA classes I-III. Both, ADMA and NT-proBNP showed a good correlation with parameters of cardiopulmonary exercise testing with comparable receiver-operating characteristic curves for identifying patients with severely limited cardiopulmonary exercise capacity. Conclusion ADMA seems to be a better biomarker than NT-proBNP for the assessment of NYHA class and as a good as NT-proBNP for the estimation of maximum exercise capacity in adults with congenital heart disease. Its use in clinical routine should be evaluated. PMID:22470476

  14. Congenital Chagas disease as an ecological model of interactions between Trypanosoma cruzi parasites, pregnant women, placenta and fetuses.

    PubMed

    Carlier, Yves; Truyens, Carine

    2015-11-01

    The aim of this paper is to discuss the main ecological interactions between the parasite Trypanosoma cruzi and its hosts, the mother and the fetus, leading to the transmission and development of congenital Chagas disease. One or several infecting strains of T. cruzi (with specific features) interact with: (i) the immune system of a pregnant woman whom responses depend on genetic and environmental factors, (ii) the placenta harboring its own defenses, and, finally, (iii) the fetal immune system displaying responses also susceptible to be modulated by maternal and environmental factors, as well as his own genetic background which is different from her mother. The severity of congenital Chagas disease depends on the magnitude of such final responses. The paper is mainly based on human data, but integrates also complementary observations obtained in experimental infections. It also focuses on important gaps in our knowledge of this congenital infection, such as the role of parasite diversity vs host genetic factors, as well as that of the maternal and placental microbiomes and the microbiome acquisition by infant in the control of infection. Investigations on these topics are needed in order to improve the programs aiming to diagnose, manage and control congenital Chagas disease.

  15. [Management of heart diseases in pregnancy: rheumatic and congenital heart disease, myocardial infarction and post partum cardiomyopathy].

    PubMed

    Westhoff-Bleck, M; Hilfiker-Kleiner, D; Günter, H H; Schieffer, E; Drexler, H

    2008-07-01

    Heart disease is present in 0.5-1% of all pregnancies. It is the leading non-obstetric cause of maternal mortality accounting for about 10-15% of all maternal death. Over the last decades the underlying cardiac disease has changed. Also new therapeutic options have been developed. In western industrial countries the incidence of acquired rheumatic heart disease has declined. In contrast, as a result of neonatal corrective or palliative surgery, congenital heart disease has become an increasing and challenging problem. Maternal older age and the increase in women's smoking habits amplify the likelihood of coronary artery disease. Multiple therapeutic options including percutaneous interventions are available and novel therapeutic concepts are emerging i.e. for peripartum cardiomyopathy. Management of pregnancy, labor and delivery requires accurate diagnosis of the underlying cardiac disorder. Hemodynamic changes physiologically occurring during pregnancy have a different impact depending on the type and severity of cardiac anomalies. Management of these patients requires teamwork of obstetricians, neonatologists, cardiologists, anesthetists and sometimes cardiac surgeons.

  16. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  17. [Endemic level of congenital Trypanosoma cruzi infection in the areas of maternal residence and the development of congenital Chagas disease in Bolivia].

    PubMed

    Torrico, Faustino; Alonso-Vega, Cristina; Suarez, Eduardo; Rodríguez, Patricia; Torrico, Mary-Cruz; Dramaix, Michele; Truyens, Carine; Carlier, Yves

    2005-01-01

    In Bolivia, the prevalence of infection by T. cruzi in women in fertile age can vary between 20 and 60%. The present study made in the Maternity Germin Urquidi of Cochabamba - Bolivia, it has demonstrated, that 19.9% of the mothers who go to this hospitable center to be taken care of in the childbirth, they are carrying of the infection and that 4,6% of them, they are going to transmit, by transplacentaria route, the infection to its babies. Of the 71 children born with congenital Chagas, only 47,8 % present/display some type of alteration or of development(Apgar to 1 minute low, BPN, prematuridad, pathological dismadurez) or signs (SDR, hepatomegalia, esplenomegalia, neurological signs, cardiomegalia, anasarca, petequias). When investigating the effect of the differences in the vectorial density (low, medium and high) of the zone of maternal residence, on the transmission of the infection of the mother infected to the fetus, we concluded that the rate of transmission of the congenital infection of T. cruzi is not modified by the level of endemicidad of the zone of maternal residence. By another infected new born sides whose mothers reside in zones of high endemicidad present/display, most frequently and of significant way, Apgar to 1 minute < to 7, low weight when being born and prematuridad or an association of these alterations with respiratory syndrome of distress or anasarca, when one compares them with new born of resident mothers in the zones of loss or medium endemicidad, mortality in this group is greater. These results suggest calls to account it of the mothers, in areas of high endemicidad, she is associate with a serious increase in the risk of Disease of newborn severe and mortal congenital Chagas in.

  18. Interactions between Cytokines, Congenital Anomalies of Kidney and Urinary Tract and Chronic Kidney Disease

    PubMed Central

    Simões e Silva, Ana Cristina; Valério, Flávia Cordeiro; Vasconcelos, Mariana Affonso; Miranda, Débora Marques; Oliveira, Eduardo Araújo

    2013-01-01

    Fetal hydronephrosis is the most common anomaly detected on antenatal ultrasound, affecting 1–5% of pregnancies. Postnatal investigation has the major aim in detecting infants with severe urinary tract obstruction and clinically significant urinary tract anomalies among the heterogeneous universe of patients. Congenital uropathies are frequent causes of pediatric chronic kidney disease (CKD). Imaging techniques clearly contribute to this purpose; however, sometimes, these exams are invasive, very expensive, and not sufficient to precisely define the best approach as well as the prognosis. Recently, biomarkers have become a focus of clinical research as potentially useful diagnostic tools in pediatric urological diseases. In this regard, recent studies suggest a role for cytokines and chemokines in the pathophysiology of CAKUT and for the progression to CKD. Some authors proposed that the evaluation of these inflammatory mediators might help the management of postnatal uropathies and the detection of patients with high risk to developed chronic kidney disease. Therefore, the aim of this paper is to revise general aspects of cytokines and the link between cytokines, CAKUT, and CKD by including experimental and clinical evidence. PMID:24066006

  19. Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease).

    PubMed

    Zix-Kieffer, I; Langer, B; Eyer, D; Acar, G; Racadot, E; Schlaeder, G; Oberlin, F; Lutz, P

    1996-07-01

    Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragility of the skin due to uroporphyrin I and coproporphyrin I accumulation. It also causes erythrocyte fragility leading to haemolytic anaemia. The other clinical features include hirsutism, red discolouration of teeth, finger-nails and urine and stunted growth. The outcome is poor, and the disfiguring nature of GD may partly explain the legend of the werewolf. No curative treatment was known until 1991, when the first case of BMT in GD was reported. The clinical and biological outcome after transplantation was encouraging, with an important regression of the symptoms of the disease, but the child died of CMV-infection 11 months after BMT. We report the second case of GD treated successfully by stem cell transplantation using umbilical cord blood from an HLA-identical brother in a 4-year-old girl suffering from severe GD. Our patient is very well 10 months after transplantation. We confirm that stem cell transplantation is curative for GD.

  20. Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease

    PubMed Central

    Yue, Shuying; Zhang, Kun; Wang, Hui; Dong, Rui; Yang, Xiaomeng; Liu, Yi; Ma, Yanhui

    2016-01-01

    Background High resolution melting (HRM) is a simple, flexible and low-cost mutation screening technique. The methylenetetrahydrofolate reductase (MTHFR) gene encoding a critical enzyme, potentially affects susceptibility to some congenital defects like congenital heart disease (CHD). We evaluate the performance of HRM for genotyping of the MTHFR gene C677T locus in CHD cases and healthy controls of Chinese Han population. Methods A total of 315 blood samples from 147 CHD patients (male72, female 75) and 168 healthy controls (male 92, female 76) were enrolled in the study. HRM was utilized to genotype MTHFR C677T locus of all the samples. The results were compared to that of PCR-RFLP and Sanger sequencing. The association of the MTHFR C677T genotypes and the risk of CHD was analyzed using odds ratio with their 95% confidence interval (CIs) from unconditional logistic regression. Results All the samples were successfully genotyped by HRM within 1 hour and 30 minutes while at least 6 hours were needed for PCR-RFLP and sequencing. The genotypes of MTHFR C677T CC, CT, and TT were 9.52%, 49.66%, and 40.82% in CHD group but 29.17%, 50% and 20.83% in control group, which were identical using both methods of HRM and PCR-RFLP, demonstrating the sensitivity and specificity of HRM were all 100%. Conclusion MTHFR C677T is a potential risk factor for CHD in our local residents of Shandong province in China. HRM is a fast, sensitive, specific and reliable method for clinical application of genotyping. PMID:26990189

  1. Research in congenital heart disease: a comparative bibliometric analysis between developing and developed countries.

    PubMed

    Farhat, Theresa; Abdul-Sater, Zahi; Obeid, Mounir; Arabi, Mariam; Diab, Karim; Masri, Samer; Al Haless, Zohair; Nemer, Georges; Bitar, Fadi

    2013-02-01

    Congenital heart disease (CHD) is the most common congenital anomaly, affecting 1 % of live births. The field of pediatric cardiology has witnessed major advances over the past 25 years triggered by research initiatives focusing on CHD. However, large disparities exist in research capabilities between Arab developing nations and the developed nations. This study used bibliometric analysis to assess the contribution of the Arab countries to CHD research. To identify articles on CHD published in the Arab countries, the United States, and Europe, a systematic search was run on MEDLINE, PubMed, and Scopus. The Arab countries, with an estimated population of 362 million, published 530 research articles addressing CHD in the last 25 years (average, 1.5 articles/10(6) population). This compares with 12,936 research articles published in the United States (average, 41 articles/10(6) population) and 12,260 published in Europe (average, 24.3 articles/10(6) population). Basic research relating to genetics and animal models of CHD is emerging sparsely in the Arab world, with few articles published in high-impact-factor journals. The Arab world research output in the field of CHD per capita is substantially low, estimated to be 29 times less than in developed countries. Despite the minimal increase in published research articles in global periodicals, most of the research relating to CHD continues to be far from innovative. Regional collaborations with international linkage are starting to evolve. The research facilities in the Arab countries need to increase substantially in research and infrastructure funding to keep up with the pace of research in developing countries. PMID:22878810

  2. Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.

    PubMed

    Aburawi, Elhadi H; Aburawi, Hanan E; Bagnall, Keith M; Bhuiyan, Zahurul A

    2015-05-01

    Congenital heart defect (CHD) has a major influence on affected individuals as well as on the supportive and associated environment such as the immediate family. Unfortunately, CHD is common worldwide with an incidence of approximately 1% and consequently is a major health concern. The Arab population has a high rate of consanguinity, fertility, birth, and annual population growth, in addition to a high incidence of diabetes mellitus and obesity. All these factors may lead to a higher incidence and prevalence of CHD within the Arab population than in the rest of the world, making CHD of even greater concern. Sadly, most Arab countries lack appropriate public health measures directed toward the control and prevention of congenital malformations and so the importance of CHD within the population remains unknown but is thought to be high. In approximately 85% of CHD patients, the multifactorial theory is considered as the pathologic basis. The genetic risk factors for CHD can be attributed to large chromosomal aberrations, copy number variations (CNV) of particular regions in the chromosome, and gene mutations in specific nuclear transcription pathways and in the genes that are involved in cardiac structure and development. The application of modern molecular biology techniques such as high-throughput nucleotide sequencing and chromosomal array and methylation array all have the potential to reveal more genetic defects linked to CHD. Exploring the genetic defects in CHD pathology will improve our knowledge and understanding about the diverse pathways involved and also about the progression of this disease. Ultimately, this will link to more efficient genetic diagnosis and development of novel preventive therapeutic strategies, as well as gene-targeted clinical management. This review summarizes our current understanding of the molecular basis of normal heart development and the pathophysiology of a wide range of CHD. The risk factors that might account for the high

  3. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease

    PubMed Central

    Reamon-Buettner, S; Borlak, J

    2004-01-01

    NKX2–5 is a pivotal transcription factor in heart development. Previous studies on lymphocytic DNA provided evidence of familial NKX2–5 gene mutations in cardiac malformations. Common mutations are rare in unrelated families. We analysed, by direct sequencing, the gene encoding NKX2–5 in the diseased heart tissues of 68 patients with complex congenital heart disease, focussing particularly on atrial, ventricular, and atrioventricular septal defects. We identified 35 non-synonymous NKX2–5 mutations in the diseased heart tissues of patients. These mutations were mainly absent in normal, for example, unaffected, heart tissue of the same patient, indicating the somatic nature and mosaicism of mutations. We also observed multiple mutations and multiple haplotypes, as well as mutations in Down's syndrome patients with cardiac malformations. Taken collectively, the above results suggest the somatic nature of NKX2–5 mutations associated with complex cardiac malformations. Somatic mutations in transcription factor genes of cardiac progenitor cells provide a novel mechanism of disease. PMID:15342699

  4. Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease.

    PubMed

    Zijlstra, Willemijn M H; Douwes, Johannes M; Ploegstra, Mark-Jan; Krishnan, Usha; Roofthooft, Marcus T R; Hillege, Hans L; Ivy, D Dunbar; Rosenzweig, Erika B; Berger, Rolf M F

    2016-09-01

    Congenital heart disease (CHD) is a frequent cause of pediatric pulmonary arterial hypertension (PAH), with diverse etiology and outcome. We aimed to describe phenotypic heterogeneity in pediatric PAH associated with CHD (PAH-CHD), assess the applicability of the Nice CHD classification, and explore whether this classification accurately reflects patient/disease characteristics and survival. All children with CHD from a contemporary cohort of consecutive pediatric PAH patients followed in three major referral centers (Denver, New York, the Netherlands) were characterized and classified on the basis of the latest proposed clinical classification for PAH-CHD (World Symposium on Pulmonary Hypertension, Nice, 2013). According to this classification, 24% of 134 children were classified into group 1, 14% into group 2, 19% into group 3, and 30% into group 4; 11% could not be classified. Types of CHD and hemodynamic profile differed between groups, with the highest right atrial pressure in group 4 (P < 0.040). Group 3 children had Down syndrome less frequently (P = 0.011) but other (un)defined syndromes most frequently (P = 0.063) and received most intense PAH-targeted therapy (P = 0.003). With 15 deaths and one lung transplant (12%; median follow-up: 4.3 years), survival differences could not be demonstrated between the groups in the Nice CHD classification. Pediatric PAH-CHD is a heterogeneous condition frequently associated with extracardiac, developmental factors that are believed to affect disease development. The Nice CHD classification identifies groups with specific patient/disease characteristics. However, a substantial proportion of children could not be classified. Group 3 forms a distinct disease entity. Its prognostic value could not be determined because of the low number of events. The Nice CHD classification supports clinical characterization of PAH-CHD; however, further refinement is needed to classify all children with PAH-CHD. PMID:27683607

  5. Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease

    PubMed Central

    Douwes, Johannes M.; Ploegstra, Mark-Jan; Krishnan, Usha; Roofthooft, Marcus T. R.; Hillege, Hans L.; Ivy, D. Dunbar; Rosenzweig, Erika B.; Berger, Rolf M. F.

    2016-01-01

    Abstract Congenital heart disease (CHD) is a frequent cause of pediatric pulmonary arterial hypertension (PAH), with diverse etiology and outcome. We aimed to describe phenotypic heterogeneity in pediatric PAH associated with CHD (PAH-CHD), assess the applicability of the Nice CHD classification, and explore whether this classification accurately reflects patient/disease characteristics and survival. All children with CHD from a contemporary cohort of consecutive pediatric PAH patients followed in three major referral centers (Denver, New York, the Netherlands) were characterized and classified on the basis of the latest proposed clinical classification for PAH-CHD (World Symposium on Pulmonary Hypertension, Nice, 2013). According to this classification, 24% of 134 children were classified into group 1, 14% into group 2, 19% into group 3, and 30% into group 4; 11% could not be classified. Types of CHD and hemodynamic profile differed between groups, with the highest right atrial pressure in group 4 (P < 0.040). Group 3 children had Down syndrome less frequently (P = 0.011) but other (un)defined syndromes most frequently (P = 0.063) and received most intense PAH-targeted therapy (P = 0.003). With 15 deaths and one lung transplant (12%; median follow-up: 4.3 years), survival differences could not be demonstrated between the groups in the Nice CHD classification. Pediatric PAH-CHD is a heterogeneous condition frequently associated with extracardiac, developmental factors that are believed to affect disease development. The Nice CHD classification identifies groups with specific patient/disease characteristics. However, a substantial proportion of children could not be classified. Group 3 forms a distinct disease entity. Its prognostic value could not be determined because of the low number of events. The Nice CHD classification supports clinical characterization of PAH-CHD; however, further refinement is needed to classify all children with PAH-CHD. PMID:27683607

  6. Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease

    PubMed Central

    Douwes, Johannes M.; Ploegstra, Mark-Jan; Krishnan, Usha; Roofthooft, Marcus T. R.; Hillege, Hans L.; Ivy, D. Dunbar; Rosenzweig, Erika B.; Berger, Rolf M. F.

    2016-01-01

    Abstract Congenital heart disease (CHD) is a frequent cause of pediatric pulmonary arterial hypertension (PAH), with diverse etiology and outcome. We aimed to describe phenotypic heterogeneity in pediatric PAH associated with CHD (PAH-CHD), assess the applicability of the Nice CHD classification, and explore whether this classification accurately reflects patient/disease characteristics and survival. All children with CHD from a contemporary cohort of consecutive pediatric PAH patients followed in three major referral centers (Denver, New York, the Netherlands) were characterized and classified on the basis of the latest proposed clinical classification for PAH-CHD (World Symposium on Pulmonary Hypertension, Nice, 2013). According to this classification, 24% of 134 children were classified into group 1, 14% into group 2, 19% into group 3, and 30% into group 4; 11% could not be classified. Types of CHD and hemodynamic profile differed between groups, with the highest right atrial pressure in group 4 (P < 0.040). Group 3 children had Down syndrome less frequently (P = 0.011) but other (un)defined syndromes most frequently (P = 0.063) and received most intense PAH-targeted therapy (P = 0.003). With 15 deaths and one lung transplant (12%; median follow-up: 4.3 years), survival differences could not be demonstrated between the groups in the Nice CHD classification. Pediatric PAH-CHD is a heterogeneous condition frequently associated with extracardiac, developmental factors that are believed to affect disease development. The Nice CHD classification identifies groups with specific patient/disease characteristics. However, a substantial proportion of children could not be classified. Group 3 forms a distinct disease entity. Its prognostic value could not be determined because of the low number of events. The Nice CHD classification supports clinical characterization of PAH-CHD; however, further refinement is needed to classify all children with PAH-CHD.

  7. Emerging Research Directions in Adult Congenital Heart Disease: A Report From an NHLBI/ACHA Working Group.

    PubMed

    Gurvitz, Michelle; Burns, Kristin M; Brindis, Ralph; Broberg, Craig S; Daniels, Curt J; Fuller, Stephanie M P N; Honein, Margaret A; Khairy, Paul; Kuehl, Karen S; Landzberg, Michael J; Mahle, William T; Mann, Douglas L; Marelli, Ariane; Newburger, Jane W; Pearson, Gail D; Starling, Randall C; Tringali, Glenn R; Valente, Anne Marie; Wu, Joseph C; Califf, Robert M

    2016-04-26

    Congenital heart disease (CHD) is the most common birth defect, affecting about 0.8% of live births. Advances in recent decades have allowed >85% of children with CHD to survive to adulthood, creating a growing population of adults with CHD. Little information exists regarding survival, demographics, late outcomes, and comorbidities in this emerging group, and multiple barriers impede research in adult CHD. The National Heart, Lung, and Blood Institute and the Adult Congenital Heart Association convened a multidisciplinary working group to identify high-impact research questions in adult CHD. This report summarizes the meeting discussions in the broad areas of CHD-related heart failure, vascular disease, and multisystem complications. High-priority subtopics identified included heart failure in tetralogy of Fallot, mechanical circulatory support/transplantation, sudden cardiac death, vascular outcomes in coarctation of the aorta, late outcomes in single-ventricle disease, cognitive and psychiatric issues, and pregnancy.

  8. Changing practice of cardiac surgery in adult patients with congenital heart disease

    PubMed Central

    Srinathan, S K; Bonser, R S; Sethia, B; Thorne, S A; Brawn, W J; Barron, D J

    2005-01-01

    Objectives: To review 13 years’ data from a unit for grown ups with congenital heart disease (GUCH) to understand the change in surgical practice. Methods: Records were reviewed of patients over 16 years of age undergoing surgery between 1 January 1990 and 31 December 2002 in a dedicated GUCH unit. Patients with atrial septal defects were included but not those with Marfan’s syndrome or undergoing a first procedure for bicuspid aortic valves. Three equal time periods of 52 months were analysed. Results: Of 474 operations performed, 162 (34.2%) were repeat operations. The percentage of repeat operations increased from 24.8% (41 of 165) in January 1990–April 1994 to 49.7% (74 of 149) in September 1998–December 2002. Mortality was 6.3% (n  =  30). The median age decreased from 25.4 years (interquartile range 18.7) in January 1990–April 1994 to 23.9 (interquartile range 17.3) in September 1998–December 2002 (p  =  0.04). The proportion of patients with a “simple” diagnosis decreased from 45.4% (74 or 165) in January 1990–April 1994 to 27.5% (41 of 149) in September 1998–December 2002 (p  =  0.013). Pulmonary valve replacements in operated tetralogy of Fallot increased from one case in January 1990–April 1994 to 23 cases in September 1998–December 2002 and conduit replacement increased from five cases to 17. However, secundum atrial septal defect closures decreased from 35 cases to 14 (p < 0.0001). The estimated cost (not including salaries and prosthetics) incurred by an adult patient with congenital heart disease was £2290 compared with £2641 for a patient undergoing coronary artery bypass grafting. Conclusion: Despite the impact of interventional cardiology, the total number of surgical procedures remained unchanged. The complexity of the cases increased particularly with repeat surgery. Nevertheless, the patients do well with low mortality and the inpatient costs remain comparable with costs of surgery for acquired disease. PMID

  9. [Spanish Society for Pediatric Infectious Diseases guidelines on tuberculosis in pregnant women and neonates (i): Epidemiology and diagnosis. Congenital tuberculosis].

    PubMed

    Baquero-Artigao, F; Mellado Peña, M J; Del Rosal Rabes, T; Noguera Julián, A; Goncé Mellgren, A; de la Calle Fernández-Miranda, M; Navarro Gómez, M L

    2015-10-01

    Tuberculosis (TB) screening in pregnancy using tuberculin skin test (TST) is recommended in case of symptoms of TB disease, close contact with a patient with infectious TB, or high risk of developing active disease. The new interferon gamma release assay (IGRA) tests are recommended in BCG-vaccinated pregnant women with positive TST and no known risk factors for TB, and in those immunocompromised, with clinical suspicion of TB but negative TST. TB diagnosis is difficult due to the non-specific symptoms, the increased frequency of extrapulmonary disease, the delay in radiological examinations, and the high rate of tuberculin anergy. Neonatal TB can be acquired in utero (congenital TB), or through airborne transmission after delivery (postnatal TB). Congenital TB is extremely rare and does not cause fetal malformations. It may be evident at birth, although it usually presents after the second week of life. In newborns with no family history of TB, the disease should be considered in cases of miliary pneumonia, hepatosplenomegaly with focal lesions, or lymphocytic meningitis with hypoglycorrhachia, especially in those born to immigrants from high TB-burden countries. TST is usually negative, and IGRAs have lower sensitivity than in older children. However, the yield of acid-fast smear and culture is higher, mostly in congenital TB. Molecular diagnosis techniques enable early diagnosis and detection of drug resistance mutations. There is a substantial risk of disseminated disease and death. PMID:25754313

  10. [Consensus document from the Spanish Society of Paediatric Infectious Diseases (SEIP) on the diagnosis and treatment of congenital cytomegalovirus infection].

    PubMed

    Baquero-Artigao, F

    2009-12-01

    Cytomegalovirus (CMV) is the leading cause of congenital infection in developed countries, affecting 0.3 to 0.6% of all live births in Europe. Primary CMV infection occurs in 1 to 4% of seronegative women during pregnancy and may be transmitted to the fetus in 40% of cases. Up to 10% of intrauterine CMV infections result in symptomatic congenital disease at birth. Half of these children and 13% of those born with asymptomatic infection will develop long-term sequelae, especially neurosensory hearing loss and mental retardation. Accurate diagnosis of primary maternal and fetal infection is now possible using the avidity index of anti-CMV IgG and virological testing to detect the virus in amniotic fluid. Symptomatic congenital infection may be preventable using CMV hyperimmune globulin during pregnancy. The gold standard for diagnosis of congenital CMV infection is the detection of the virus in urine within the first 2 weeks of life by rapid cell culture techniques (shell vial) or nucleic acid amplification of viral DNA (PCR). Retrospective diagnosis can be achieved by detection of viral DNA by PCR in dried blood spots (Guthrie card) collected on filter paper in the first days of life. Currently available drugs for the treatment of congenital CMV include ganciclovir and its oral prodrug valganciclovir. Treatment with intravenous ganciclovir for six weeks may prevent hearing deterioration in children with symptomatic congenital CMV infection and central nervous system involvement. Valganciclovir may be an excellent alternative because of its good bio-availability, providing plasma concentrations similar to those achieved with intravenous ganciclovir.

  11. [Growing up with congenital heart disease: neurocognitive outcome, psychopathology and quality of life].

    PubMed

    Amianto, Federico; Bellicanta, Anna; Bergui, Giovanna C; Zuccolin, Maria; Abbate-Daga, Giovanni; Fassino, Secondo

    2013-01-01

    Thank to medical and surgical improvements, a very high percentage of children with congenital heart disease (CHD; about 1% of newborn) reaches adulthood. This population of young surgical and medical patients opens up new challenges in clinical management, including evaluation and optimization of psychosocial functioning and quality of life. Data regarding neurocognitive and psychopathological adaptation, personality and quality of life of CHD patients are rather extensive but still insufficient to guide management approaches to these subjects and to address the numerous emerging problems. The present review analyzes extensively the research literature to find out those variables that may influence development of CHD children. It emerges that a multi-factorial process seems involved in the poor outcome of neurocognitive development in many patients. Notwithstanding the attempts to define risk factors, current researches do not consent definitive conclusions about the determinants of developmental problems in CHD children. An improvement of existential outcome for CHD subjects may be achieved if adequate interventions are carried out. In fact, psychopathological and quality of life in CHD subjects may result even better if elaboration of disease by CHD subjects is adequately supported. On one hand, genetic factors that may contribute to unfavourable evolutions suggest the need for early recognition of subjects at risk. On the other, research should be addressed to the identification of those protective and risk factors related to personality, environmental and relational aspects entailed in the development of CHD subjects.

  12. Responses of proximal tubular cells to injury in congenital renal disease: fight or flight.

    PubMed

    Chevalier, Robert L; Forbes, Michael S; Galarreta, Carolina I; Thornhill, Barbara A

    2014-04-01

    Most chronic kidney disease in children results from congenital or inherited disorders, which can be studied in mouse models. Following 2 weeks of unilateral ureteral obstruction (UUO) in the adult mouse, nephron loss is due to proximal tubular mitochondrial injury and cell death. In neonatal mice, proximal tubular cell death is delayed beyond 2 weeks of complete UUO, and release of partial UUO allows remodeling of remaining nephrons. Progressive cyst expansion develops in polycystic kidney disease (PKD), a common inherited renal disorder. The polycystic kidney and fibrosis (pcy)-mutant mouse (which develops late-onset PKD) develops thinning of the glomerulotubular junction in parallel with growth of cysts in adulthood. Renal insufficiency in nephropathic cystinosis, a rare inherited renal disorder, results from progressive tubular cystine accumulation. In the Ctns knockout mouse (a model of cystinosis), proximal tubular cells become flattened, with loss of mitochondria and thickening of tubular basement membrane. In each model, persistent obstructive or metabolic stress leads ultimately to the formation of atubular glomeruli. The initial "fight" response (proximal tubular survival) switches to a "flight" response (proximal tubular cell death) with ongoing oxidative injury and mitochondrial damage. Therapies should be directed at reducing proximal tubular mitochondrial oxidative injury to enhance repair and regeneration.

  13. Congenital vestibular disease in captive Sumatran tigers (Panthera tigris ssp. sumatrae) in Australasia.

    PubMed

    Wheelhouse, Jaimee L; Hulst, Frances; Beatty, Julia A; Hogg, Carolyn J; Child, Georgina; Wade, Claire M; Barrs, Vanessa R

    2015-11-01

    The Sumatran tiger (Panthera tigris ssp. sumatrae) is a critically endangered species in the wild. To ensure that demographic and genetic integrity are maintained in the longer term, those Sumatran tigers held in captivity are managed as a global population under a World Association of Zoos and Aquariums Global Species Management Plan (GSMP). A retrospective study, including segregation and pedigree analysis, was conducted to investigate potential cases of congenital vestibular disease (CVD) in captive Sumatran tigers in Australasian zoos using medical and husbandry records, as well as video footage obtained from 50 tigers between 1975 and 2013. Data from the GSMP Sumatran tiger studbook were made available for pedigree and segregation analysis. Fourteen cases of CVD in 13 Sumatran tiger cubs and one hybrid cub (Panthera tigris ssp. sumatrae × Panthera tigris) were identified. Vestibular signs including head tilt, circling, ataxia, strabismus and nystagmus were observed between birth and 2 months of age. These clinical signs persisted for a median of 237 days and had resolved by 2 years of age in all cases. Pedigree analysis revealed that all affected tigers were closely related and shared a single common ancestor in the last four generations. A genetic cause for the disease is suspected and, based on pedigree and segregation analysis, an autosomal dominant mode of inheritance is likely. Further investigations to determine the world-wide prevalence and underlying pathology of this disorder are warranted. PMID:26403953

  14. [DNA-diagnosis of congenital diseases in companion animals and the role of the practicing veterinarian].

    PubMed

    Ubbink, G J; Stades, F C; Rothuizen, J

    2002-04-15

    The knowledge on the impact of gene defects on the development of disease in companion animals is increasing rapidly. The gene defects may be differentiated in an initiating defect, which is the cause of illness, and a promoting defect, which enhances the chance on illness. Up till now only initiating defects are known in dogs and cats. All this is of great importance for breeding purposes, because within a breed there is narrow relationship which means the genetic diversity is small, and with all the disadvantages thereof. The identification in good time of gene defects in breeding animals, so that these animals being excluded from breeding, is of utmost importance in preventing congenital diseases. For that reason more and more the owners will appeal to veterinary surgeons to cooperate in procedures to screen potential breeding animals, or to declare the animals free from gene defects. The problems with regard to the diagnostic tests, including the DNA-tests, and their predictive values are discussed.

  15. Congenital vestibular disease in captive Sumatran tigers (Panthera tigris ssp. sumatrae) in Australasia.

    PubMed

    Wheelhouse, Jaimee L; Hulst, Frances; Beatty, Julia A; Hogg, Carolyn J; Child, Georgina; Wade, Claire M; Barrs, Vanessa R

    2015-11-01

    The Sumatran tiger (Panthera tigris ssp. sumatrae) is a critically endangered species in the wild. To ensure that demographic and genetic integrity are maintained in the longer term, those Sumatran tigers held in captivity are managed as a global population under a World Association of Zoos and Aquariums Global Species Management Plan (GSMP). A retrospective study, including segregation and pedigree analysis, was conducted to investigate potential cases of congenital vestibular disease (CVD) in captive Sumatran tigers in Australasian zoos using medical and husbandry records, as well as video footage obtained from 50 tigers between 1975 and 2013. Data from the GSMP Sumatran tiger studbook were made available for pedigree and segregation analysis. Fourteen cases of CVD in 13 Sumatran tiger cubs and one hybrid cub (Panthera tigris ssp. sumatrae × Panthera tigris) were identified. Vestibular signs including head tilt, circling, ataxia, strabismus and nystagmus were observed between birth and 2 months of age. These clinical signs persisted for a median of 237 days and had resolved by 2 years of age in all cases. Pedigree analysis revealed that all affected tigers were closely related and shared a single common ancestor in the last four generations. A genetic cause for the disease is suspected and, based on pedigree and segregation analysis, an autosomal dominant mode of inheritance is likely. Further investigations to determine the world-wide prevalence and underlying pathology of this disorder are warranted.

  16. Heart transplantation for congenital heart disease in the first year of life.

    PubMed

    Chinnock, Richard E; Bailey, Leonard L

    2011-05-01

    Successful infant heart transplantation has now been performed for over 25 years. Assessment of long term outcomes is now possible. We report clinical outcomes for322 patients who received their heart transplant during infancy. Actuarial graft survival for newborn recipients is 59% at 25 years. Survival has improved in the most recent era. Cardiac allograft vasculopathy is the most important late cause of death with an actuarial incidence at 25 years of 35%. Post-transplant lymphoma is estimated to occur in 20% of infant recipients by25 years. Chronic kidney disease grade 3 or worse is present in 31% of survivors. The epidemiology of infant heart transplantation has changed through the years as the results for staged repair improved and donor resources remained stagnant. Most centers now employ staged repair for hypoplastic left heart syndrome and similar extreme forms of congenital heart disease. Techniques for staged repair, including the hybrid procedure, are described. The lack of donors is described with particular note regarding decreased donors due to newer programs for appropriate infant sleep positioning and infant car seats. ABO incompatible donors are a newer resource for maximizing donor resources, as is donation after circulatory determination of death and techniques to properly utilize more donors by expanding the criteria for what is an acceptable donor. An immunological advantage for the youngest recipients has long been postulated, and evaluation of this phenomenon may provide clues to the development of accommodation and/or tolerance. PMID:22548030

  17. The alteration of interelemental ratios in myocardium under the congenital heart disease (SRXRF)

    NASA Astrophysics Data System (ADS)

    Trunova, V. A.; Zvereva, V. V.; Okuneva, G. N.; Levicheva, E. N.

    2007-05-01

    It is the myocardium that bears the basic functional loading during heart working, including muscle contractility and enzyme activity. The elemental concentrations in myocardium tissue of heart were determined by SRXRF technique. Our investigation is systematical: the elemental content in each compartment (left and right ventricles, left and right auricles) of hearts of healthy and diseased children (congenital heart diseases, transposition of main vessels (TMV)) was analyzed. The elemental distribution in myocardium of four heart chambers of human fetuses was also analyzed. Following elements were determined: S, Cl, K, Ca, Cr, Mn, Fe, Ni, Cu, Zn, As, Se, Br, Rb, Sr. It was revealed that the elemental concentrations in myocardium of both ventricles are almost constant in heart of fetuses and healthy children. The transition from pre-natal study (fetus) to post-natal study is accompanied by the redistribution of chemical elements in myocardium. The higher concentrations of S, Fe, Ca, Sr and Cu in myocardium of children are observed, the content of K, Br, Rb and especially Se is lower than in heart of fetuses. The elemental distribution in myocardium of children TMV is considerably different in comparison with the healthy children: the higher levels of Cu are observed. The content of Se is lower.

  18. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  19. Pyrrolizidine Alkaloids: Potential Role in the Etiology of Cancers, Pulmonary Hypertension, Congenital Anomalies, and Liver Disease.

    PubMed

    Edgar, John A; Molyneux, Russell J; Colegate, Steven M

    2015-01-20

    Large outbreaks of acute food-related poisoning, characterized by hepatic sinusoidal obstruction syndrome, hemorrhagic necrosis, and rapid liver failure, occur on a regular basis in some countries. They are caused by 1,2-dehydropyrrolizidine alkaloids contaminating locally grown grain. Similar acute poisoning can also result from deliberate or accidental consumption of 1,2-dehydropyrrolizidine alkaloid-containing herbal medicines, teas, and spices. In recent years, it has been confirmed that there is also significant, low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids in many countries due to consumption of common foods such as honey, milk, eggs, salads, and meat. The level of 1,2-dehydropyrrolizidine alkaloids in these foods is generally too low and too intermittent to cause acute toxicity. However, these alkaloids are genotoxic and can cause slowly developing chronic diseases such as pulmonary arterial hypertension, cancers, cirrhosis, and congenital anomalies, conditions unlikely to be easily linked with dietary exposure to 1,2-dehydropyrrolizidine alkaloids, especially if clinicians are unaware that such dietary exposure is occurring. This Perspective provides a comprehensive review of the acute and chronic toxicity of 1,2-dehydropyrrolizidine alkaloids and their potential to initiate certain chronic diseases, and suggests some associative considerations or indicators to assist in recognizing specific cases of diseases that may have resulted from dietary exposure to these hazardous natural substances. If it can be established that low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids is a significant cause of some of these costly and debilitating diseases, then this should lead to initiatives to reduce the level of these alkaloids in the food chain.

  20. Adult congenital heart disease imaging with second-generation dual-source computed tomography: initial experiences and findings.

    PubMed

    Ghoshhajra, Brian B; Sidhu, Manavjot S; El-Sherief, Ahmed; Rojas, Carlos; Yeh, Doreen Defaria; Engel, Leif-Christopher; Liberthson, Richard; Abbara, Suhny; Bhatt, Ami

    2012-01-01

    Adult congenital heart disease patients present a unique challenge to the cardiac imager. Patients may present with both acute and chronic manifestations of their complex congenital heart disease and also require surveillance for sequelae of their medical and surgical interventions. Multimodality imaging is often required to clarify their anatomy and physiology. Radiation dose is of particular concern in these patients with lifelong imaging needs for their chronic disease. The second-generation dual-source scanner is a recently available advanced clinical cardiac computed tomography (CT) scanner. It offers a combination of the high-spatial resolution of modern CT, the high-temporal resolution of dual-source technology, and the wide z-axis coverage of modern cone-beam geometry CT scanners. These advances in technology allow novel protocols that markedly reduce scan time, significantly reduce radiation exposure, and expand the physiologic imaging capabilities of cardiac CT. We present a case series of complicated adult congenital heart disease patients imaged by the second-generation dual-source CT scanner with extremely low-radiation doses and excellent image quality.

  1. Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

    PubMed Central

    Mourato, Felipe Alves; Villachan, Lúcia Roberta R.; Mattos, Sandra da Silva

    2014-01-01

    OBJECTIVE: To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis. METHODS: Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7. RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age. CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension. PMID:25119745

  2. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part I: Clinical Perspective, Anatomy and Imaging Techniques

    PubMed Central

    Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-01-01

    Rapid evolution in technology in the recent years has lead to availability of multiple options for cardiac imaging. Availability of multiple options of varying capability, poses a challenge for optimal imaging choice. While new imaging choices are added, some of the established methods find their role re-defined. State of the art imaging practices are limited to few specialist cardiac centres, depriving many radiologists and radiologist in-training of optimal exposure to the field. This presentation is aimed at providing a broad idea about complexity of clinical problem, imaging options and a large library of images of congenital heart disease. Some emphasis is made as to the need of proper balance between performing examination with technical excellence in an ideal situation against the need of the majority of patients who are investigated with less optimal resources. Cases of congenital cardiac disease are presented in an illustrative way, showing imaging appearances in multiple modalities, highlighting specific observations in given instance. PMID:27376034

  3. Dental procedures in children with severe congenital heart disease: a theoretical analysis of prophylaxis and non-prophylaxis procedures

    PubMed Central

    Al-Karaawi, Z; Lucas, V; Gelbier, M; Roberts, G

    2001-01-01

    OBJECTIVE—To estimate the cumulative exposure to bacteraemia from dental procedures currently recommended for antibiotic prophylaxis and compare this with cumulative exposure from dental procedures not recommended for prophylaxis.
DESIGN—Retrospective analysis.
SETTING—University and teaching hospital maxillofacial and dental department.
PATIENTS—136 children with severe congenital cardiac disease attending for dental treatment between 1993 and 1998 and for whom full records were available. Each dental procedure was tallied.
MAIN OUTCOME MEASURES—Cumulative exposure per annum to "non-prophylaxis procedures"; cumulative exposure per annum to "prophylaxis procedures".
RESULTS—Cumulative exposure to bacteraemia from prophylaxis procedures was not significantly greater than from non-prophylaxis procedures.
CONCLUSIONS—The data raise important questions about the appropriateness of current guidelines for antibiotic prophylaxis of bacterial endocarditis.


Keywords: congenital heart disease; dental treatment; cumulative risk; endocarditis PMID:11119466

  4. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part I: Clinical Perspective, Anatomy and Imaging Techniques.

    PubMed

    Bhat, Venkatraman; Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-05-01

    Rapid evolution in technology in the recent years has lead to availability of multiple options for cardiac imaging. Availability of multiple options of varying capability, poses a challenge for optimal imaging choice. While new imaging choices are added, some of the established methods find their role re-defined. State of the art imaging practices are limited to few specialist cardiac centres, depriving many radiologists and radiologist in-training of optimal exposure to the field. This presentation is aimed at providing a broad idea about complexity of clinical problem, imaging options and a large library of images of congenital heart disease. Some emphasis is made as to the need of proper balance between performing examination with technical excellence in an ideal situation against the need of the majority of patients who are investigated with less optimal resources. Cases of congenital cardiac disease are presented in an illustrative way, showing imaging appearances in multiple modalities, highlighting specific observations in given instance. PMID:27376034

  5. Right oblique subxiphoid view for two-dimensional echocardiographic visualization of the right ventricle in congenital heart disease.

    PubMed

    Marino, B; Ballerini, L; Marcelletti, C; Piva, R; Pasquini, L; Zacché, C; Giannico, S; De Simone, G

    1984-11-01

    Two-dimensional echocardiography in the right oblique subxiphoid view (ROSV) was used to visualize all right ventricular components in 351 patients younger than 2 years of age (100 normal and 251 with various types of congenital heart disease). The ROSV, which is anterior and parallel to the ventricular septum, displays all right-sided cardiac components, the left atrium and the aorta. This view provided the correct diagnosis in patients with pulmonary stenosis or atresia with intact ventricular septum, Ebstein's anomaly, tricuspid atresia, infundibular ventricular septal defect, tetralogy of Fallot and truncus arteriosus. In all patients studied with the ROSV, an excellent definition of morphologic characteristics, equivalent to that in the right oblique axial angiocardiographic view, was achieved. The ROSV should be used routinely to delineate the right ventricular anatomy in all infants with congenital heart disease. PMID:6496327

  6. Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

    PubMed Central

    Hitz, Marc-Phillip; Lemieux-Perreault, Louis-Philippe; Marshall, Christian; Feroz-Zada, Yassamin; Davies, Robbie; Yang, Shi Wei; Lionel, Anath Christopher; D'Amours, Guylaine; Lemyre, Emmanuelle; Cullum, Rebecca; Bigras, Jean-Luc; Thibeault, Maryse; Chetaille, Philippe; Montpetit, Alexandre; Khairy, Paul; Overduin, Bert; Klaassen, Sabine; Hoodless, Pamela; Nemer, Mona; Stewart, Alexandre F. R.; Boerkoel, Cornelius; Scherer, Stephen W.; Richter, Andrea; Dubé, Marie-Pierre; Andelfinger, Gregor

    2012-01-01

    Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology. Although left-sided CHD is known to be highly heritable, the underlying genetic determinants are largely unidentified. In this study, we sought to determine the impact of structural genomic variation on left-sided CHD and compared multiplex families (464 individuals with 174 affecteds (37.5%) in 59 multiplex families and 8 trios) to 1,582 well-phenotyped controls. 73 unique inherited or de novo CNVs in 54 individuals were identified in the left-sided CHD cohort. After stringent filtering, our gene inventory reveals 25 new candidates for LS-CHD pathogenesis, such as SMC1A, MFAP4, and CTHRC1, and overlaps with several known syndromic loci. Conservative estimation examining the overlap of the prioritized gene content with CNVs present only in affected individuals in our cohort implies a strong effect for unique CNVs in at least 10% of left-sided CHD cases. Enrichment testing of gene content in all identified CNVs showed a significant association with angiogenesis. In this first family-based CNV study of left-sided CHD, we found that both co-segregating and de novo events associate with disease in a complex fashion at structural genomic level. Often viewed as an anatomically circumscript disease, a subset of left-sided CHD may in fact reflect more general genetic perturbations of angiogenesis and/or vascular biology. PMID:22969434

  7. Bridging the gap between anatomy and molecular genetics for an improved understanding of congenital heart disease.

    PubMed

    Reamon-Buettner, Stella Marie; Spanel-Borowski, Katharina; Borlak, Jürgen

    2006-05-01

    Birth defects are the leading cause of infant mortality and malformations in congenital heart disease (CHD) are among the most prevalent and fatal of all birth defects. Yet the molecular mechanisms leading to CHD are complex and the causes of the cardiac malformations observed in humans are still unclear. In recent years, the pivotal role of certain transcription factors in heart development has been demonstrated, and gene targeting of cardiac-specific transcription factor genes in animal models has provided valuable insights into heart anomalies. Nonetheless results in these models can be species specific, and in humans, germline mutations in transcription factor genes can only account for some cases of CHD. Furthermore, most patients do not have family history of CHD. There is, therefore, a need for a better understanding of the mechanisms in both normal cardiac development and the formation of malformations. The combining of expertise in cardiac anatomy, pathology, and molecular genetics is essential to adequately comprehend developmental abnormalities associated with CHD. To help elucidate genetic alterations in affected tissues of malformed hearts, we carried out genetic analysis of cardiac-specific transcription factor genes from the Leipzig collection of formalin-fixed malformed hearts. Working with this morphologically well-characterized archival material not only provided valuable genetic information associated with disease, but enabled us to put forward a hypothesis of somatic mutations as a novel molecular cause of CHD. Knowledge of cause and disease mechanism may allow for intervention that could modify the degree of cardiac malformations or development of new approaches for prevention of CHD. PMID:16711160

  8. Transvenous cardiac resynchronization therapy in complex congenital heart diseases: dextrocardia with transposition of the great arteries after Mustard operation.

    PubMed

    Zartner, Peter A; Wiebe, Walter; Volkmer, Marius; Thomas, Daniel; Schneider, Martin

    2009-04-01

    Cardiac resynchronization therapy revealed first promising results in patients with a congenital heart disease and a systemic right ventricle. Contrast-enhanced magnetic resonance imaging showed accessibility of the coronary sinus in an 18-year-old male patient with mirror dextrocardia, d-transposition of the great arteries and ventricular septal defect (VSD) after Mustard operation and VSD patch closure. In literatures, transvenous lead placement is discussed in this anatomical setting, with opposed position of the ventricular leads and reliable lead characteristics.

  9. Congenital and inherited neurologic diseases in dogs and cats: Legislation and its effect on purchase in Italy.

    PubMed

    Passantino, Annamaria; Masucci, Marisa

    2016-05-01

    Many of the congenital neurologic diseases can result in incapacity or death of the animal. Some of them, such as idiopathic epilepsy and hydrocephalus, exhibit breed or familial predisposition and a genetic basis was proved or suggested. Some diseases can be presumptively diagnosed after a detailed signalment (breed predisposition), history (e.g. family history because many of these defects have familial tendencies), and through physical exam; other diagnostic methods (radiography, computed tomography, magnetic resonance, electrophysiologic tests, etc.) can provide supportive evidence for the congenital defect and help to confirm the diagnosis. Some cases can lead to civil law-suits when the lesions are congenital, but not easily recognizable, or when the lesions are hereditary but tend to became manifest only after some time (more than 12 months after the date of purchase, e.g., after the vice-free guarantee period has expired). Moreover, quite frequently an early diagnosis is not made because there are delays in consulting the veterinarian or the general practitioner veterinarian does not perceive subtle signs. This study was designed to focus on the medico-legal aspects concerning the buying and selling in Italy of dogs and cats affected by congenital and hereditary neurologic diseases that could constitute vice in these animals. While adequate provisions to regulate in detail the various aspects of pet sale have still to be drawn up by legislators, it may be helpful to involve breeders, by obliging them by contract to extend guarantees in the case of hereditary lesions, including neurologic diseases. PMID:27284217

  10. Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

    PubMed

    Prendiville, Terence; Jay, Patrick Y; Pu, William T

    2014-10-01

    Study of monogenic congenital heart disease (CHD) has provided entry points to gain new understanding of heart development and the molecular pathogenesis of CHD. In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4. Detailed investigation of these genes in mice and humans has expanded our understanding of heart development, shedding light on the complex genetic and environmental factors that influence expression and penetrance of CHD gene mutations.

  11. [More than 50 years' experience in the treatment of patients with congenital heart disease at a Hungarian university hospital].

    PubMed

    Havasi, Kálmán; Kalapos, Anita; Berek, Krisztina; Domsik, Péter; Kovács, Gábor; Bogáts, Gábor; Hartyánszky, István; Kertész, Erzsébet; Katona, Márta; Rácz, Katalin; Csanády, Miklós; Forster, Tamás; Nemes, Attila

    2015-05-17

    Improvements in surgical techniques and technical advancements have made possible for several patients with congenital heart disease to grow up to adulthood. It has been decided to create a registry for their more precise treatment. This registry now includes 2770 patients with data on 3043 operations, with almost 30 different diagnoses. The purpose of this paper is to review the facts and the basics leading to the establishment of this registry. PMID:26038945

  12. Congenital and inherited neurologic diseases in dogs and cats: Legislation and its effect on purchase in Italy

    PubMed Central

    Passantino, Annamaria; Masucci, Marisa

    2016-01-01

    Many of the congenital neurologic diseases can result in incapacity or death of the animal. Some of them, such as idiopathic epilepsy and hydrocephalus, exhibit breed or familial predisposition and a genetic basis was proved or suggested. Some diseases can be presumptively diagnosed after a detailed signalment (breed predisposition), history (e.g. family history because many of these defects have familial tendencies), and through physical exam; other diagnostic methods (radiography, computed tomography, magnetic resonance, electrophysiologic tests, etc.) can provide supportive evidence for the congenital defect and help to confirm the diagnosis. Some cases can lead to civil law-suits when the lesions are congenital, but not easily recognizable, or when the lesions are hereditary but tend to became manifest only after some time (more than 12 months after the date of purchase, e.g., after the vice-free guarantee period has expired). Moreover, quite frequently an early diagnosis is not made because there are delays in consulting the veterinarian or the general practitioner veterinarian does not perceive subtle signs. This study was designed to focus on the medico-legal aspects concerning the buying and selling in Italy of dogs and cats affected by congenital and hereditary neurologic diseases that could constitute vice in these animals. While adequate provisions to regulate in detail the various aspects of pet sale have still to be drawn up by legislators, it may be helpful to involve breeders, by obliging them by contract to extend guarantees in the case of hereditary lesions, including neurologic diseases. PMID:27284217

  13. Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.

    PubMed

    Del Viso, Florencia; Huang, Fang; Myers, Jordan; Chalfant, Madeleine; Zhang, Yongdeng; Reza, Nooreen; Bewersdorf, Joerg; Lusk, C Patrick; Khokha, Mustafa K

    2016-09-12

    Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to explain how a component of the nuclear pore complex (NPC) could cause Htx/CHD was undefined. Here, we show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryonic development while leaving NPC function largely intact. Many data, including the localization of endogenous Nup188/93 at cilia bases, support their direct role at cilia. Super-resolution imaging of Nup188 shows two barrel-like structures with dimensions and organization incompatible with an NPC-like ring, arguing against a proposed "ciliary pore complex." We suggest that the nanoscale organization and function of nucleoporins are context dependent in a way that is required for the structure of the heart. PMID:27593162

  14. Birth prevalence of congenital heart disease: A cross-sectional observational study from North India

    PubMed Central

    Saxena, Anita; Mehta, Anurag; Sharma, Mamta; Salhan, Sudha; Kalaivani, Mani; Ramakrishnan, Sivasubramanian; Juneja, Rajnish

    2016-01-01

    Objective: To assess the birth prevalence and pattern of congenital heart disease (CHD) using echocardiography in babies born in a community hospital of North India. Methods: A cross-sectional observational study conducted over a period of 3 years. Newborns born over a specific 8-h period of the day were recruited in the study. They underwent routine clinical examination and pulse oximetry, followed by screening echocardiography for diagnosing a CHD. Results: A total of 20,307 newborns were screened, among which 874 had abnormal echocardiograms; 687 had insignificant CHDs, 164 had significant CHDs, and 24 had other abnormal cardiac findings. The birth prevalence of significant CHDs was 8.07 per 1000 live births; 131 newborns had an acyanotic CHD (79.9%) and 33 a cyanotic CHD (20.1%). Ventricular septal defect (VSD) was the most common acyanotic CHD, present in 116 newborns, giving a prevalence of 5.7/1000 live births. Among the cyanotic CHD, transposition of great arteries was most common (prevalence 0.34/1000 live births). Conclusion: The CHD birth prevalence in our study is similar to the reported worldwide birth prevalence. Acyanotic CHD (mostly VSD) is seen in about three-fourths of babies born with CHD. The more sinister cyanotic CHD is present in remaining 25%. PMID:27625516

  15. Genetic and functional analyses of ZIC3 variants in congenital heart disease

    PubMed Central

    Cowan, Jason; Tariq, Muhammad; Ware, Stephanie M.

    2013-01-01

    Mutations in zinc-finger in cerebellum 3 (ZIC3) result in heterotaxy or isolated congenital heart disease (CHD). The majority of reported mutations cluster in zinc-finger domains. We previously demonstrated that many of these lead to aberrant ZIC3 subcellular trafficking. A relative paucity of N- and C-terminal mutations has, however, prevented similar analyses in these regions. Notably, an N-terminal polyalanine expansion was recently identified in a patient with VACTERL, suggesting a potentially distinct function for this domain. Here, we report ZIC3 sequencing results from 440 unrelated patients with heterotaxy and CHD, the largest cohort yet examined. Variants were identified in 5.2% of sporadic male cases. This rate exceeds previous estimates of 1% and has important clinical implications for genetic testing and risk-based counseling. Eight of 11 were novel, including 5 N-terminal variants. Subsequent functional analyses included 4 additional reported but untested variants. Aberrant cytoplasmic localization and decreased luciferase transactivation were observed for all zinc-finger variants, but not for downstream or in-frame upstream variants, including both analyzed polyalanine expansions. Collectively, these results expand the ZIC3 mutational spectrum, support a higher than expected prevalence in sporadic cases, and suggest alternative functions for terminal mutations, highlighting a need for further study of these domains. PMID:24123890

  16. Birth prevalence of congenital heart disease: A cross-sectional observational study from North India

    PubMed Central

    Saxena, Anita; Mehta, Anurag; Sharma, Mamta; Salhan, Sudha; Kalaivani, Mani; Ramakrishnan, Sivasubramanian; Juneja, Rajnish

    2016-01-01

    Objective: To assess the birth prevalence and pattern of congenital heart disease (CHD) using echocardiography in babies born in a community hospital of North India. Methods: A cross-sectional observational study conducted over a period of 3 years. Newborns born over a specific 8-h period of the day were recruited in the study. They underwent routine clinical examination and pulse oximetry, followed by screening echocardiography for diagnosing a CHD. Results: A total of 20,307 newborns were screened, among which 874 had abnormal echocardiograms; 687 had insignificant CHDs, 164 had significant CHDs, and 24 had other abnormal cardiac findings. The birth prevalence of significant CHDs was 8.07 per 1000 live births; 131 newborns had an acyanotic CHD (79.9%) and 33 a cyanotic CHD (20.1%). Ventricular septal defect (VSD) was the most common acyanotic CHD, present in 116 newborns, giving a prevalence of 5.7/1000 live births. Among the cyanotic CHD, transposition of great arteries was most common (prevalence 0.34/1000 live births). Conclusion: The CHD birth prevalence in our study is similar to the reported worldwide birth prevalence. Acyanotic CHD (mostly VSD) is seen in about three-fourths of babies born with CHD. The more sinister cyanotic CHD is present in remaining 25%.

  17. Regional Alterations in Cerebral Growth Exist Pre-operatively in Infants with Congenital Heart Disease

    PubMed Central

    Ortinau, Cynthia; Beca, John; Lambeth, Jennifer; Ferdman, Barbara; Alexopoulos, Dimitrios; Shimony, Joshua S.; Wallendorf, Michael; Neil, Jeffrey; Inder, Terrie

    2011-01-01

    Objective Magnetic Resonance Imaging (MRI) has defined neurologic abnormalities in infants with congenital heart disease (CHD) including pre-operative injury and delayed brain maturation. This study utilized qualitative scoring, cerebral biometry, and diffusion imaging to characterize pre-operative brain abnormalities in infants with CHD, including the identification of regions of greater vulnerability. Methods Sixty-seven infants with CHD had pre-operative MRI with analysis for brain injury by qualitative scoring and brain development by qualitative scoring, metrics and diffusion imaging. Results Qualitative abnormalities were common, with 42% of infants having pre-operative focal white matter lesions. Infants with CHD had smaller brain measures in the frontal lobe, parietal lobe, cerebellum and brainstem (p<.001); with the frontal lobe and brainstem displaying the greatest alterations (p<.001). Smaller brain size in the frontal and parietal lobes correlated with delayed white matter microstructure reflected by diffusion imaging. Conclusion Infants with CHD commonly display brain injury and delayed brain development. Regional alterations in brain size are present, with the frontal lobe and brainstem demonstrating the greatest alterations, which may reflect a combination of developmental vulnerability and regional differences in cerebral circulation. PMID:22143100

  18. Determination of left ventricular volumes by Simpson's rule in infants and children with congenital heart disease.

    PubMed Central

    Ino, T; Benson, L N; Mikalian, H; Freedom, R M; Rowe, R D

    1989-01-01

    Regression equations were developed from left ventricular casts of known volumes to calculate left ventricular volumes from biplane cineangiography obtained in non-standard views. Volumes were calculated by Simpson's rule from casts of postmortem specimens from patients with congenital heart disease. The casts were divided into two groups: those that came from patients with abnormal right ventricular haemodynamic function (group 1, n = 11) and those that came from patients in which it was normal (group 2, n = 9). Biplane cinegrams were taken in conventional (anteroposterior/lateral, right anterior oblique/left anterior oblique) and non-conventional (long axis oblique, hepatoclavicular, and sitting up) projections. The true volume of each cast was determined from its weight and specific gravity. Correlations between measured and true volumes (r = 0.96 to 0.99) were excellent in all projections, although each projection overestimated the true volumes (slope = 0.72 to 0.94). The regression equations obtained from conventional views were significantly different from those from the non-conventional views; however, the regression slopes in group 1 were not different from those in group 2 in any view. Regression equations obtained by Simpson's rule do not seem to be affected by the haemodynamic state of the right ventricle. Different regression equations are required to measure left ventricular volumes from non-conventional angiograms. Images Figure PMID:2923757

  19. Pulse oximetry screening: a review of diagnosing critical congenital heart disease in newborns

    PubMed Central

    Engel, Melissa S; Kochilas, Lazaros K

    2016-01-01

    Congenital heart disease (CHD) is one of the most common birth defects, with an incidence of nine out of every 1,000 live births. The mortality of infants with CHD has decreased over the past 3 decades, but significant morbidity and mortality continue to occur if not diagnosed shortly after birth. Pulse oximetry was recommended as a screening tool to detect critical CHD in 2011 by the American Academy of Pediatrics and the American Heart Association. Pulse oximetry is a tool to measure oxygen saturation, and based on the presence of hypoxemia, many cardiac lesions are detected. Due to its ease of application to the patient, providing results in a timely manner and without the need for calibrating the sensor probe, pulse oximetry offers many advantages as a screening tool. However, pulse oximetry has also important limitations of which physicians should be aware to be able to assess the significance of the pulse oximetry measurement for a given patient. This review aims to highlight the benefits and shortcomings of pulse oximetry within the context of screening for critical CHD and suggests future avenues to cover existing gaps in current practices. PMID:27468253

  20. Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

    PubMed

    Yoshida, Akiko; Morisaki, Hiroko; Nakaji, Mai; Kitano, Masataka; Kim, Ki-Sung; Sagawa, Koichi; Ishikawa, Shiro; Satokata, Ichiro; Mitani, Yoshihide; Kato, Hitoshi; Hamaoka, Kenji; Echigo, Shigeyuki; Shiraishi, Isao; Morisaki, Takayuki

    2016-02-01

    Congenital heart disease (CHD) is the most common birth defect occurring in humans and some transcriptional factors have been identified as causative. However, additional mutation analysis of these genes is necessary to develop effective diagnostic and medical treatment methods. We conducted sequence analysis of the coding regions of NKX2.5, GATA4, TBX1, TBX5, TBX20, CFC1 and ZIC3 in 111 Japanese patients with non-syndromic CHD and 9 of their relatives. All patient samples were also analyzed by multiplex ligation-dependent probe amplification using probes involved in chromosome deletion related to CHD. Five novel variations of TBX5, GATA4 and TBX20 were detected in 6 of the patients, whereas none were found in 200 controls. The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay. A total of seven non-synonymous polymorphisms were found in the patients and controls. Accumulation of novel variations of genes involving the cardiac development may be required for better understanding of CHD. PMID:26490186

  1. Forkhead box transcription factors in embryonic heart development and congenital heart disease.

    PubMed

    Zhu, Hong

    2016-01-01

    Embryonic heart development is a very complicated process regulated precisely by a network composed of many genes and signaling pathways in time and space. Forkhead box (Fox, FOX) proteins are a family of transcription factors characterized by the presence of an evolutionary conserved "forkhead"or "winged-helix" DNA-binding domain and able to organize temporal and spatial gene expression during development. They are involved in a wide variety of cellular processes, such as cell cycle progression, proliferation, differentiation, migration, metabolism and DNA damage response. An abundance of studies in model organisms and systems has established that Foxa2, Foxc1/c2, Foxh1 and Foxm1, Foxos and Foxps are important components of the signaling pathways that instruct cardiogenesis and embryonic heart development, playing paramount roles in heart development. The previous studies also have demonstrated that mutations in some of the forkhead box genes and the aberrant expression of forkhead box gene are heavily implicated in the congenital heart disease (CHD) of humans. This review primarily focuses on the current understanding of heart development regulated by forkhead box transcription factors and molecular genetic mechanisms by which forkhead box factors modulate heart development during embryogenesis and organogenesis. This review also summarizes human CHD related mutations in forkhead box genes as well as the abnormal expression of forkhead box gene, and discusses additional possible regulatory mechanisms of the forkhead box genes during embryonic heart development that warrant further investigation.

  2. Zika fever and congenital Zika syndrome: An unexpected emerging arboviral disease.

    PubMed

    Chan, Jasper F W; Choi, Garnet K Y; Yip, Cyril C Y; Cheng, Vincent C C; Yuen, Kwok-Yung

    2016-05-01

    Unlike its mosquito-borne relatives, such as dengue, West Nile, and Japanese encephalitis viruses, which can cause severe human diseases, Zika virus (ZIKV) has emerged from obscurity by its association with a suspected "congenital Zika syndrome", while causing asymptomatic or mild exanthematous febrile infections which are dengue- or rubella-like in infected individuals. Despite having been discovered in Uganda for almost 60 years, <20 human cases were reported before 2007. The massive epidemics in the Pacific islands associated with the ZIKV Asian lineage in 2007 and 2013 were followed by explosive outbreaks in Latin America in 2015. Although increased mosquito breeding associated with the El Niño effect superimposed on global warming is suspected, genetic changes in its RNA virus genome may have led to better adaptation to mosquitoes, other animal reservoirs, and human. We reviewed the epidemiology, clinical manifestation, virology, pathogenesis, laboratory diagnosis, management, and prevention of this emerging infection. Laboratory diagnosis can be confounded by cross-reactivity with other circulating flaviviruses. Besides mosquito bite and transplacental transmission, the risk of other potential routes of transmission by transfusion, transplantation, sexual activity, breastfeeding, respiratory droplet, and animal bite is discussed. Epidemic control requires adequate clearance of mosquito breeding grounds, personal protection against mosquito bite, and hopefully a safe and effective vaccine.

  3. Association analysis identifies new risk loci for congenital heart disease in Chinese populations.

    PubMed

    Lin, Yuan; Guo, Xuejiang; Zhao, Bijun; Liu, Juanjuan; Da, Min; Wen, Yang; Hu, Yuanli; Ni, Bixian; Zhang, Kai; Yang, Shiwei; Xu, Jing; Dai, Juncheng; Wang, Xiaowei; Xia, Yankai; Ma, Hongxia; Jin, Guangfu; Yu, Shiqiang; Liu, Jiayin; Keavney, Bernard D; Goodship, Judith A; Cordell, Heather J; Wang, Xinru; Shen, Hongbing; Sha, Jiahao; Zhou, Zuomin; Chen, Yijiang; Mo, Xuming; Luo, Lingfei; Hu, Zhibin

    2015-08-18

    Our previous genome-wide association study (GWAS) identified two susceptibility loci for congenital heart disease (CHD) in Han Chinese. Here we identify additional loci by testing promising associations in an extended 3-stage validation consisting of 6,053 CHD cases and 7,410 controls. We find GW significant (P<5.0 × 10(-8)) evidence of 4 additional CHD susceptibility loci at 4q31.22 (rs1400558, upstream of EDNRA, Pall=1.63 × 10(-9)), 9p24.2 (rs7863990, close to SMARCA2, Pall=3.71 × 10(-14)), 12q24.13 (rs2433752, upstream of TBX3 and TBX5, Pall=1.04 × 10(-10)) and 20q12 (rs490514, in PTPRT, Pall=1.20 × 10(-13)). Moreover, the data from previous European GWAS supports that rs490514 is associated with the risk of CHD (P=3.40 × 10(-3)). These results enhance our understanding of CHD susceptibility.

  4. A computer-based matrix for rapid calculation of pulmonary hemodynamic parameters in congenital heart disease

    PubMed Central

    Lopes, Antonio Augusto; dos Anjos Miranda, Rogério; Gonçalves, Rilvani Cavalcante; Thomaz, Ana Maria

    2009-01-01

    BACKGROUND: In patients with congenital heart disease undergoing cardiac catheterization for hemodynamic purposes, parameter estimation by the indirect Fick method using a single predicted value of oxygen consumption has been a matter of criticism. OBJECTIVE: We developed a computer-based routine for rapid estimation of replicate hemodynamic parameters using multiple predicted values of oxygen consumption. MATERIALS AND METHODS: Using Microsoft® Excel facilities, we constructed a matrix containing 5 models (equations) for prediction of oxygen consumption, and all additional formulas needed to obtain replicate estimates of hemodynamic parameters. RESULTS: By entering data from 65 patients with ventricular septal defects, aged 1 month to 8 years, it was possible to obtain multiple predictions for oxygen consumption, with clear between-age groups (P <.001) and between-methods (P <.001) differences. Using these predictions in the individual patient, it was possible to obtain the upper and lower limits of a likely range for any given parameter, which made estimation more realistic. CONCLUSION: The organized matrix allows for rapid obtainment of replicate parameter estimates, without error due to exhaustive calculations. PMID:19641642

  5. Recommendations for starting a grown up congenital heart disease (GUCH) unit

    PubMed Central

    Amaral, Fernando Tadeu Vasconcelos; Manso, Paulo Henrique; Schmidt, André; Sgarbieri, Ricardo Nilson; Vicente, Walter Villela de Andrade; Carbone Junior, Clovis; Somerville, Jane

    2015-01-01

    During the last decades, advances in diagnosis and treatment of congenital heart disease have allowed many individuals to reach adulthood. Due mainly to the great diagnostic diversity and to the co-morbidities usually present in this age group, these patients demand assistance in a multidisciplinary facility if an adequate attention is aimed. In this paper we reviewed, based in the international literature and also on the authors’ experience, the structural conditions that should be available for these patients. We highlighted aspects like the facility characteristics, the criteria usually adopted for patient transfer from the paediatric setting, the composition of the medical and para- medical staff taking into account the specific problems, and also the model of outpatient and in-hospital assistance. We also emphasized the importance of patient data storage, the fundamental necessity of institutional support and also the compromise to offer professional training. The crucial relevance of clinical research is also approached, particularly the development of multicenter studies as an appropriate methodology for this heterogeneous patient population. PMID:26313729

  6. Recommendations for starting a grown up congenital heart disease (GUCH) unit.

    PubMed

    Amaral, Fernando Tadeu Vasconcelos; Manso, Paulo Henrique; Schmidt, André; Sgarbieri, Ricardo Nilson; Vicente, Walter Villela de Andrade; Carbone Junior, Clovis; Somerville, Jane

    2015-01-01

    During the last decades, advances in diagnosis and treatment of congenital heart disease have allowed many individuals to reach adulthood. Due mainly to the great diagnostic diversity and to the co-morbidities usually present in this age group, these patients demand assistance in a multidisciplinary facility if an adequate attention is aimed. In this paper we reviewed, based in the international literature and also on the authors' experience, the structural conditions that should be available for these patients. We highlighted aspects like the facility characteristics, the criteria usually adopted for patient transfer from the paediatric setting, the composition of the medical and para- medical staff taking into account the specific problems, and also the model of outpatient and in-hospital assistance. We also emphasized the importance of patient data storage, the fundamental necessity of institutional support and also the compromise to offer professional training. The crucial relevance of clinical research is also approached, particularly the development of multicenter studies as an appropriate methodology for this heterogeneous patient population. PMID:26313729

  7. Pulmonary hypertension in adults with congenital heart disease and Eisenmenger syndrome: current advanced management strategies.

    PubMed

    D'Alto, Michele; Diller, Gerhard-Paul

    2014-09-01

    The presence of pulmonary arterial hypertension (PAH) increases morbidity and reduces survival in patients with congenital heart disease (CHD). PAH-CHD is a heterogeneous condition, depending on the type of the underlying defect and previous repair strategies. There is growing evidence of the benefits of PAH-specific therapy in the PAH-CHD population, but despite recent advances mortality rates remain relatively high. In the last years, an increasing focus has been placed on patients with PAH-CHD and net left-to-right shunt. Currently, there are limited data to guide the management of these patients and uncertainty on the cut-off values for eventual defect closure. Pregnancy conveys significant risks in PAH-CHD patients: appropriate counselling and care, including psychological support and a multidisciplinary team, should be part of the routine management of women with PAH-CHD of reproductive age. Some subgroups, such as patients with Down's syndrome, Fontan circulation and 'segmental' pulmonary hypertension, present particular challenges in terms of management and therapy. The current review focuses on contemporary treatment strategies in PAH-CHD patients with particular emphasis on challenging patient groups and conditions.

  8. Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Nursing Aspects.

    PubMed

    Hom, Lisa A; Martin, Gerard R

    2016-09-01

    Congenital heart disease (CCHD) is the most common birth defect. Screening for the most critical forms (CCHD) using pulse oximetry was added to the Recommended Uniform Screening Panel in the United States in 2011. Since then, CCHD screening has become nearly universal in the United States. Nurses are ideally situated to contribute to the development of best practices for implementation and provide education to families on CCHD screening. Much of the standardization, advocacy, and development of national recommendations occurred with key input from nurses. Nurses often have responsibility for educating parents, performing the screening, interpreting the screening algorithm, and the documentation of results. The nurse role often includes implementing follow-up quality improvement initiatives to ensure that systematic and accurate screening occurs. Smooth implementation can be achieved by identifying champions early, obtaining input from a multidisciplinary team including both physician and nursing leaders, and identifying ways to integrate screening into already existing workflow. By knowing the basics of why screening is important, how to screen, current recommendations on the follow-up for positive screens and the limitations of CCHD screening, nurses can advocate for their patients and positively impact outcomes for infants born with CCHD through early identification before discharge. PMID:27603538

  9. Growth characteristics of the fetal ligament of the head of femur: significance in congenital hip disease.

    PubMed Central

    Walker, J. M.

    1980-01-01

    Measurement of the length and width of the ligament of the head of femur (ligamentum teres) in 140 normal human fetuses between 12 weeks and term provides limits for growth changes in this structure. These observations provide no morphological evidence of a significant difference between males and females, or between the right and left sides, to explain the female and left hip preponderance reported in congenital hip disease. The ligament is shown to be variable in length, width, and shape, and it is not a distinctly linear structure through linearity may increase with age. Tests of femoral head mobility support the opinion that this ligament must play a role in fetal and neonatal hip joint stability. Weak correlation only was demonstrated between the ligament variables and acetabular depth, which suggests that ligament shape and socket shape are not closely related. Comparison of measurements from normal and 12 dysplastic or subluxated joints provides no evidence to support previous observations that this structure is unusually long in abnormal hip joints which are not frankly dislocated. Images FIG. 1 PMID:7445537

  10. Multidisciplinary management of pregnancy in complex congenital heart disease: a model for coordination of care.

    PubMed

    Harris, Rachel C; Fries, Melissa H; Boyle, Annelee; Adeniji-Adele, Hassan; Cherian, Zacharia; Klein, Nancy; John, Anitha S

    2014-01-01

    With advancements in medical care, many women with complex congenital heart disease (CHD) are now living into adulthood and childbearing years. The strains of pregnancy and parturition can be dangerous in such patients, and careful interdisciplinary plans must be made to optimize maternal and fetal health through this process. Several large studies have been published regarding risk prediction and medical management of pregnancy in complex CHD, though few case studies detailing clinical care plans have been published. The objective of this report is to describe the process of developing a detailed pregnancy and delivery care plan for three women with complex CHD, including perspectives from the multidisciplinary specialists involved in the process. This article demonstrates that collaboration between specialists in the fields of cardiology, anesthesiology, high-risk obstetrics, maternal fetal medicine, and neonatology results in clinically successful individualized treatment plans for the management of pregnancy in complex CHD. Multidisciplinary collaboration is a crucial element in the management of pregnancy in complex CHD. We provide a template used in three cases which can serve as a model for the design of future care plans.

  11. Ambulatory Blood Pressure and Subclinical Cardiovascular Disease in Patients with Congenital Adrenal Hyperplasia: A Preliminary Report

    PubMed Central

    Akyürek, Nesibe; Atabek, Mehmet Emre; Selver Eklioğlu, Beray; Alp, Hayrullah

    2015-01-01

    Objective: There is an increased risk of cardiovascular morbidity in children and adolescents with classical congenital adrenal hyperplasia (CAH), presumably associated with obesity, hypertension, impaired glucose tolerance and dyslipidemia. This study was designed to evaluate the metabolic and cardiovascular profile of a group of children with classical CAH from the perspective of cardiovascular risk. Methods: Twenty-five CAH patients and 25 healthy controls were included in the study. Metabolic and anthropometric parameters were investigated and compared in these two groups. Results: Subjects in the CAH group were shorter than the controls (p=0.001) and had higher body mass index values (p=0.033). Diastolic blood pressure (DBP) (p=0.027) and carotid intima-media thickness (CIMT) values (p=0.006) were also higher in the patient group. In 24% (n=6) of CAH patients, 24-h ambulatory BP monitoring showed arterial hypertension. CIMT was significantly higher in the hypertensive patients than in those with no hypertension (p=0.013). Twenty percent (n=5) of CAH patients had nocturnal hypertension. CIMT was significantly greater in the nocturnal hypertensive group (p=0.02). Mean systolic BP (SBP) and DBP dipping were significantly different in the CAH patients (p<0.001). CIMT correlated negatively with DBP dipping (r=-0632, p=0.037) in these patients. Conclusion: These results provide additional evidence for the presence of subclinical cardiovascular disease in classical CAH patients and its relationship with hypertension. PMID:25800471

  12. The cost-effectiveness of prenatal detection for congenital heart disease using telemedicine screening.

    PubMed

    Mistry, Hema; Gardiner, Helena M

    2013-06-01

    We estimated the longer-term cost-effectiveness of using telemedicine screening for prenatal detection of congenital heart disease (CHD). One hospital in south-east England with a telemedicine service was connected to a fetal cardiology unit in London. A UK health service perspective was adopted. Evidence on costs and outcomes for standard-risk pregnant women during the antenatal period was based on patient-level data. Extrapolation beyond the end of the study (just after delivery) was carried out for the lifetime of children born with and without CHD. Expert opinion and data from published sources was used to populate a decision model. Future costs and benefits were discounted. The main outcome was quality-adjusted life years (QALYs) and results were expressed as cost per QALY gained. Various one-way sensitivity analyses were conducted. The model showed that offering telemedicine screening by specialists to all standard-risk pregnant women was the dominant strategy (i.e. cheaper and more effective). The sensitivity analyses found that the model was robust, and that telemedicine remained the most cost-effective strategy. The study showed that it would be cost-effective to provide telemedicine examinations as part of an antenatal screening programme for all standard-risk women.

  13. The role of stents in the treatment of congenital heart disease: Current status and future perspectives

    PubMed Central

    Peters, Bjoern; Ewert, Peter; Berger, Felix

    2009-01-01

    Intravascular or intracardiac stenoses occur in many forms of congenital heart disease (CHD). Therefore, the implantation of stents has become an accepted interventional procedure for stenotic lesions in pediatric cardiology. Furthermore, stents are know to be used to exclude vessel aneurysm or to ensure patency of existing or newly created intracardiac communications. With the further refinement of the first generation of devices, a variety of “modern” stents with different design characteristics have evolved. Despite the tremendous technical improvement over the last 20 years, the “ideal stent” has not yet been developed. Therefore, the pediatric interventionalist has to decide which stent is suitable for each lesion. On this basis, currently available stents are discussed in regard to their advantages and disadvantages for common application in CHD. New concepts and designs developed to overcome some of the existing problems, like the failure of adaptation to somatic growth, are presented. Thus, in the future, biodegradable or growth stents might replace the currently used generation of stents. This might truly lead to widening indications for the use of stents in the treatment of CHD. PMID:20300265

  14. Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.

    PubMed

    Del Viso, Florencia; Huang, Fang; Myers, Jordan; Chalfant, Madeleine; Zhang, Yongdeng; Reza, Nooreen; Bewersdorf, Joerg; Lusk, C Patrick; Khokha, Mustafa K

    2016-09-12

    Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to explain how a component of the nuclear pore complex (NPC) could cause Htx/CHD was undefined. Here, we show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryonic development while leaving NPC function largely intact. Many data, including the localization of endogenous Nup188/93 at cilia bases, support their direct role at cilia. Super-resolution imaging of Nup188 shows two barrel-like structures with dimensions and organization incompatible with an NPC-like ring, arguing against a proposed "ciliary pore complex." We suggest that the nanoscale organization and function of nucleoporins are context dependent in a way that is required for the structure of the heart.

  15. Life experiences and coping strategies in adults with congenital heart disease.

    PubMed

    Callus, E; Quadri, E; Compare, A; Tovo, A; Giamberti, A; Chessa, M

    2013-01-01

    Many adults with congenital heart disease (ACHD) have to face considerable psychosocial difficulties. The aim of this study was to explore the life experiences of ACHD patients, from when they become aware of having a condition, till after the open heart surgery they underwent. The study was conducted with the use of unstructured, in-depth interviews, performed on 11 patients (age ranging: 20 - 56 y) after they recovered from open heart surgery and a focus group, which included 16 participants (age ranging: 22 - 46 y). Both the interviews and the focus group were recorded, transcribed and analyzed according to Grounded Theory procedures. Our findings show that the condition of diversity is the core of the emotional experiences connected to ACHD. Feeling different and being perceived as being different are clearly interlinked and coping strategies adopted resulted as being influenced by this perception. This study also clearly outlines the importance of having an adequate perception of one's condition and the link between maladaptive coping strategies and an incorrect perception of one's heart condition. Results are discussed in order to promote psychosocial interventions within and outside of the hospital setting in order to improve the patients' emotional wellbeing. PMID:24516946

  16. Vitamin D deficiency in surgical congenital heart disease: prevalence and relevance

    PubMed Central

    Menon, Kusum

    2013-01-01

    Vitamin D is a pleiotropic hormone important for the proper functioning of multiple organ systems. An emerging body of adult and pediatric critical care literature strongly suggests that vitamin D deficiency contributes to secondary organ pathophysiology, prolongs ICU stay, and worsens outcome in critically ill populations. Recent clinical studies suggest that a significant number of children with congenital heart disease (CHD) have post-operative vitamin D deficiency which appears to be associated with greater cardiovascular dysfunction. Altogether the cumulative body of literature suggests that peri-operative optimization of vitamin D status has the potential to speed recovery and/or improve outcome. This review describes the epidemiological and basic science research linking vitamin D deficiency to post-operative organ dysfunction. Furthermore, the available supplementation approaches are reviewed in the context of prevention of post-operative vitamin D deficiency and avoidance of toxicity in the majority of CHD patients. Finally, knowledge gaps regarding vitamin D supplementation are identified and the next stages for research are outlined. PMID:26835300

  17. Planning of vessel grafts for reconstructive surgery in congenital heart diseases

    NASA Astrophysics Data System (ADS)

    Rietdorf, U.; Riesenkampff, E.; Schwarz, T.; Kuehne, T.; Meinzer, H.-P.; Wolf, I.

    2010-02-01

    The Fontan operation is a surgical treatment for patients with severe congenital heart diseases, where a biventricular correction of the heart can't be achieved. In these cases, a uni-ventricular system is established. During the last step of surgery a tunnel segment is placed to connect the inferior caval vein directly with the pulmonary artery, bypassing the right atrium and ventricle. Thus, the existing ventricle works for the body circulation, while the venous blood is passively directed to the pulmonary arteries. Fontan tunnels can be placed intra- and extracardially. The location, length and shape of the tunnel must be planned accurately. Furthermore, if the tunnel is placed extracardially, it must be positioned between other anatomical structures without constraining them. We developed a software system to support planning of the tunnel location, shape, and size, making pre-operative preparation of the tunnel material possible. The system allows for interactive placement and adjustment of the tunnel, affords a three-dimensional visualization of the virtual Fontan tunnel inside the thorax, and provides a quantification of the length, circumferences and diameters of the tunnel segments. The visualization and quantification can be used to plan and prepare the tunnel material for surgery in order to reduce the intra-operative time and to improve the fit of the tunnel patch.

  18. Voxelwise atlas rating for computer assisted diagnosis: Application to congenital heart diseases of the great arteries.

    PubMed

    Zuluaga, Maria A; Burgos, Ninon; Mendelson, Alex F; Taylor, Andrew M; Ourselin, Sébastien

    2015-12-01

    Atlas-based analysis methods rely on the morphological similarity between the atlas and target images, and on the availability of labelled images. Problems can arise when the deformations introduced by pathologies affect the similarity between the atlas and a patient's image. The aim of this work is to exploit the morphological dissimilarities between atlas databases and pathological images to diagnose the underlying clinical condition, while avoiding the dependence on labelled images. We propose a voxelwise atlas rating approach (VoxAR) relying on multiple atlas databases, each representing a particular condition. Using a local image similarity measure to assess the morphological similarity between the atlas and target images, a rating map displaying for each voxel the condition of the atlases most similar to the target is defined. The final diagnosis is established by assigning the condition of the database the most represented in the rating map. We applied the method to diagnose three different conditions associated with dextro-transposition of the great arteries, a congenital heart disease. The proposed approach outperforms other state-of-the-art methods using annotated images, with an accuracy of 97.3% when evaluated on a set of 60 whole heart MR images containing healthy and pathological subjects using cross validation.

  19. Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

    PubMed

    Marantz, Pablo; Sáenz Tejeira, M Mercedes; Peña, Gabriela; Segovia, Alejandra; Fustiñana, Carlos

    2013-10-01

    Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p <0.01). Prenatal mortality was similar in both groups: A: 8.4% (13 out of 155); B: 15.7% (11 out of 70). Postnatal mortality was A: 16.8% (26 out of 155) (p <0.01), OR: 0.52 (95% CI: 0.16-1.7); B: 32.9% (23 out of 70) (p <0.01), OR: 0.41 (95% CI: 0.20-0.83). Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

  20. Evaluation of Congenital Valvular Heart Diseases by the Pediatrician: When to Follow, When to Refer for Intervention?

    PubMed

    Singhi, Anil Kumar; Kumar, Raman Krishna

    2015-11-01

    Isolated congenital valvular heart disease in children constitutes a small fraction of congenital heart diseases. Valve involvement is seen more along with other congenital diseases. The most commonly involved valve is the pulmonary valve followed by the aortic valve. Stenotic lesions of the pulmonary and aortic valves are more frequently encountered than mitral and tricuspid valvular lesions. The presentation depends on the severity of the lesion and the age of the patient. Symptoms range from asymptomatic status to florid symptoms of valve obstruction and/or leak. Detailed clinical assessment and various imaging techniques confirm the diagnosis and help in management planning. Transcatheter balloon dilatation for obstructive pulmonary valve has very good long-term outcomes. The results of balloon dilation of aortic valve are also good enough for it to be the treatment of choice. Significant lesions of the mitral and tricuspid valve, regurgitant lesions, sub and supra valvular obstructions require surgical correction. Most valvar lesions mandate regular follow up. Communication and coordination between the pediatric cardiologist and the pediatrician helps in the optimal management. PMID:26362423

  1. Factors determining outcomes in grown up patients operated for congenital heart diseases

    PubMed Central

    Talwar, Sachin; Kumar, Manikala V; Sreenivas, Vishnubhatla; Choudhary, Shiv K; Sahu, Manoj; Airan, Balram

    2016-01-01

    Background: The number of grown ups with congenital heart diseases (GUCHs) is steadily increasing. Aims: To analyze factors predicting early cardiac morbidity following cardiac surgery in GUCH at a tertiary care center. Setting and Design: Retrospective study at a multispeciality tertiary referral center. Methods: Between January 2004 and December 2014, 1432 patients ≥13 years of age (acyanotic defects: 843, cyanotic defects: 589) underwent surgery for congenital heart defects. Factors associated with early cardiac morbidity were analyzed. Statistical Analysis: Univariable and multivariable analysis of all factors affecting outcomes. Results: On multivariate analysis, previous sternotomy, aortic cross-clamp time >45 min, cyanosis, and emergency procedure were independent predictors of early morbidity with respective odds ratios (ORs) of 12.4, 3.6, 2.6, and 8.1. For more precise estimation, a risk score was generated. Taking the log odds with each of these four as respective weights, a score was generated. The variables were previous sternotomy (2.5), aortic cross-clamp >45 min (1.3), emergency procedure (2.1), and cyanosis (0.9), if the respective condition is present, zero otherwise. The score ranged from 0 to 4.5. The average value of the score based on the four variables was significantly higher in cases with morbidity (1.85 ± 1.17) vs. (0.75 ± 0.88), P < 0.001. Distribution of scores was significantly different between patients with and without morbidity. Sixty-seven percent patients without any morbidity had score <1 compared to 24.6% with morbidity. Only 0.9% patients without morbidity had score of ≥3 compared to 16.4% patients with morbidity. Compared with patients having score <1, patients with scores 1-2 had OR of 3.4, 2-3 had OR of 6.0, and >3 had OR of 48.7. Conclusion: GUCH can be safely operated when adequate caution is taken in the presence of independent predictors such as previous sternotomy, aortic clamp time >45 min, cyanosis, and emergency

  2. Factors determining outcomes in grown up patients operated for congenital heart diseases

    PubMed Central

    Talwar, Sachin; Kumar, Manikala V; Sreenivas, Vishnubhatla; Choudhary, Shiv K; Sahu, Manoj; Airan, Balram

    2016-01-01

    Background: The number of grown ups with congenital heart diseases (GUCHs) is steadily increasing. Aims: To analyze factors predicting early cardiac morbidity following cardiac surgery in GUCH at a tertiary care center. Setting and Design: Retrospective study at a multispeciality tertiary referral center. Methods: Between January 2004 and December 2014, 1432 patients ≥13 years of age (acyanotic defects: 843, cyanotic defects: 589) underwent surgery for congenital heart defects. Factors associated with early cardiac morbidity were analyzed. Statistical Analysis: Univariable and multivariable analysis of all factors affecting outcomes. Results: On multivariate analysis, previous sternotomy, aortic cross-clamp time >45 min, cyanosis, and emergency procedure were independent predictors of early morbidity with respective odds ratios (ORs) of 12.4, 3.6, 2.6, and 8.1. For more precise estimation, a risk score was generated. Taking the log odds with each of these four as respective weights, a score was generated. The variables were previous sternotomy (2.5), aortic cross-clamp >45 min (1.3), emergency procedure (2.1), and cyanosis (0.9), if the respective condition is present, zero otherwise. The score ranged from 0 to 4.5. The average value of the score based on the four variables was significantly higher in cases with morbidity (1.85 ± 1.17) vs. (0.75 ± 0.88), P < 0.001. Distribution of scores was significantly different between patients with and without morbidity. Sixty-seven percent patients without any morbidity had score <1 compared to 24.6% with morbidity. Only 0.9% patients without morbidity had score of ≥3 compared to 16.4% patients with morbidity. Compared with patients having score <1, patients with scores 1-2 had OR of 3.4, 2-3 had OR of 6.0, and >3 had OR of 48.7. Conclusion: GUCH can be safely operated when adequate caution is taken in the presence of independent predictors such as previous sternotomy, aortic clamp time >45 min, cyanosis, and emergency

  3. Congenital heart disease in men – birth characteristics and reproduction: a national cohort study

    PubMed Central

    2014-01-01

    Background Women with congenital heart disease (CHD) are more often born preterm or small-for-gestational age and with a caesarean section. This pattern together with an increased risk of congenital anomalies seems to be repeated in the next generation. Information on the effect of paternal CHD on their offspring is sparse. In this study we investigated if men with CHD differ from those who do not have CHD with respect to characteristics related to their own births, their reproductive patterns and the neonatal outcomes of their children. Methods In this national cohort study data were derived from Swedish population-based registries. The population consists of all men born in 1973-1983 who were alive and living in Sweden at 13 years of age (n = 522 216). The index group is men with CHD (n = 2689). Men diagnosed with CHD were compared with men without CHD. The CHD were also divided into two groups, complex and simple CHD and comparisons between the groups were made. Results Men with CHD are more likely to have been born preterm (p < 0.001), small-for gestational-age (p < 0.001) or large-for-gestational-age (p < 0.001) than men without CHD. They are also more likely to have been the result of a twin pregnancy (p < 0.001) and to have been delivered by caesarean section (p < 0.001). Men with CHD have a decreased likelihood to become fathers compared to non-CHD men and in this study their offspring do not have a higher incidence of CHD than offspring to non-CHD fathers. The neonatal outcomes of children of men with CHD do not differ from the outcomes of children of non-CHD men. Conclusions Men with CHD were more often born with non-optimal characteristics compared to men without the condition. However, the increased risk does not repeat itself in the next generation. This knowledge can lead to improved preconception counselling for couples in which the father has a CHD. PMID:24890365

  4. Prognosis and Risk Factors for Congenital Airway Anomalies in Children with Congenital Heart Disease: A Nationwide Population-Based Study in Taiwan

    PubMed Central

    Lee, Yu-Sheng; Jeng, Mei-Jy; Tsao, Pei-Chen

    2015-01-01

    Background The mortality risk associated with congenital airway anomalies (CAA) in children with congenital heart disease (CHD) is unclear. This study aimed to investigate the factors associated with CAA, and the associated mortality risk, among children with CHD. Methods This nationwide, population-based study evaluated 39,652 children with CHD aged 0–5 years between 2000 and 2011, using the Taiwan National Health Insurance Research Database (NHIRD). We performed descriptive, logistic regression, Kaplan–Meier, and Cox regression analyses of the data. Results Among the children with CHD, 1,591 (4.0%) had concomitant CAA. Children with CHD had an increased likelihood of CAA if they were boys (odds ratio [OR], 1.48; 95% confidence interval [CI], 1.33–1.64), infants (OR, 5.42; 95%CI, 4.06–7.24), or had a congenital musculoskeletal anomaly (OR, 3.19; 95%CI, 2.67–3.81), and were typically identified 0–3 years after CHD diagnosis (OR, 1.33; 95%CI 1.17–1.51). The mortality risk was increased in children with CHD and CAA (crude hazard ratio [HR], 2.05; 95%CI, 1.77–2.37), even after adjusting for confounders (adjusted HR, 1.76; 95%CI, 1.51–2.04). Mortality risk also changed by age and sex (adjusted HR and 95%CI are quoted): neonates, infants, and toddlers and preschool children, 1.67 (1.40–2.00), 1.93 (1.47–2.55), and 4.77 (1.39–16.44), respectively; and boys and girls, 1.62 (1.32–1.98) and 2.01 (1.61–2.50), respectively. Conclusion The mortality risk is significantly increased among children with CHD and comorbid CAA. Clinicians should actively seek CAA during the follow-up of children with CHD. PMID:26334302

  5. Repair of congenital heart disease with associated pulmonary hypertension in children: what are the minimal investigative procedures? Consensus statement from the Congenital Heart Disease and Pediatric Task Forces, Pulmonary Vascular Research Institute (PVRI).

    PubMed

    Lopes, Antonio Augusto; Barst, Robyn J; Haworth, Sheila Glennis; Rabinovitch, Marlene; Al Dabbagh, Maha; Del Cerro, Maria Jesus; Ivy, Dunbar; Kashour, Tarek; Kumar, Krishna; Harikrishnan, S; D'Alto, Michele; Thomaz, Ana Maria; Zorzanelli, Leína; Aiello, Vera D; Mocumbi, Ana Olga; Santana, Maria Virginia T; Galal, Ahmed Nasser; Banjar, Hanaa; Tamimi, Omar; Heath, Alexandra; Flores, Patricia C; Diaz, Gabriel; Sandoval, Julio; Kothari, Shyam; Moledina, Shahin; Gonçalves, Rilvani C; Barreto, Alessandra C; Binotto, Maria Angélica; Maia, Margarida; Al Habshan, Fahad; Adatia, Ian

    2014-06-01

    Standardization of the diagnostic routine for children with congenital heart disease associated with pulmonary arterial hypertension (PAH-CHD) is crucial, in particular since inappropriate assignment to repair of the cardiac lesions (e.g., surgical repair in patients with elevated pulmonary vascular resistance) may be detrimental and associated with poor outcomes. Thus, members of the Congenital Heart Disease and Pediatric Task Forces of the Pulmonary Vascular Research Institute decided to conduct a survey aimed at collecting expert opinion from different institutions in several countries, covering many aspects of the management of PAH-CHD, from clinical recognition to noninvasive and invasive diagnostic procedures and immediate postoperative support. In privileged communities, the vast majority of children with congenital cardiac shunts are now treated early in life, on the basis of noninvasive diagnostic evaluation, and have an uneventful postoperative course, with no residual PAH. However, a small percentage of patients (older at presentation, with extracardiac syndromes or absence of clinical features of increased pulmonary blood flow, thus suggesting elevated pulmonary vascular resistance) remain at a higher risk of complications and unfavorable outcomes. These patients need a more sophisticated diagnostic approach, including invasive procedures. The authors emphasize that decision making regarding operability is based not only on cardiac catheterization data but also on the complete diagnostic picture, which includes the clinical history, physical examination, and all aspects of noninvasive evaluation.

  6. Long-Term Neurodevelopmental Outcomes in Children and Adolescents With Congenital Heart Disease

    PubMed Central

    Jerrell, Jeanette M.; Shuler, C. Osborne; Tripathi, Avnish; Black, George B.; Park, Yong-Moon Mark

    2015-01-01

    Background: Effective medical and surgical management of pediatric congenital heart disease (CHD) to reduce long-term adverse neurodevelopmental outcomes is an important clinical objective in primary and specialty health care. We identify clinical predictors associated with an increased risk of 6 long-term neurodevelopmental outcomes in children with CHD compared to the general pediatric Medicaid population. Method: South Carolina’s retrospective, 15-year Medicaid data set (January 1, 1996–December 31, 2010) for 19,947 patients aged ≤ 17 years diagnosed with ≥ 1 CHD lesions (on the basis of International Classification of Diseases, Ninth Revision, Clinical Modification codes) were compared to 19,948 patients without CHD matched on age at entry into and duration in Medicaid using logistic and Cox proportional hazards regression. Results: The CHD cohort was significantly less likely to have incident neurologic or psychiatric disorders, mental retardation, developmental delays, or inattention/hyperactivity (adjusted odds ratios [ORs] = 0.34, 0.56, 0.03, 0.01, 0.004, respectively) but was more likely to have incident seizures (OR = 2.00) compared to controls. Exposure to both cardiac and noncardiac surgical intervention was associated with a significantly increased risk of developing neurologic or psychiatric disorders, mental retardation, developmental delays, or inattention/hyperactivity (cardiac ORs = 1.66, 2.00, 1.67, 1.43, 1.76, respectively) (noncardiac ORs = 2.25, 1.59, 1.48, 1.29, 1.36, 2.46, respectively). Any documented hypoxemia was associated with a significantly increased risk of developing 5 of the neurodevelopmental conditions (neurologic OR = 4.52, psychiatric OR = 1.60, mental retardation OR = 2.90, developmental delay OR = 2.12, seizures OR = 4.23). Conclusion: Practitioners should maintain vigilant surveillance of all CHD patients, especially those exposed to surgical procedures or experiencing hypoxemia, to identify any neurodevelopmental

  7. Technique of percutaneous laser-assisted valve dilatation for valvar atresia in congenital heart disease.

    PubMed Central

    Rosenthal, E; Qureshi, S A; Kakadekar, A P; Anjos, R; Baker, E J; Tynan, M

    1993-01-01

    OBJECTIVE--To investigate the efficacy and safety of transcatheter laser-assisted valve dilatation for atretic valves in children with congenital heart disease. DESIGN--Prospective clinical study. SETTING--Supraregional paediatric cardiology centre. SUBJECTS--Eleven children (aged 1 day-11 years; weight 2.1-35.7 kg) with atresia of pulmonary (10) or tricuspid (one) valve underwent attempted laser-assisted valve dilatation as part of the staged treatment of their cyanotic heart disease. INTERVENTION--After delineating the atretic valve by angiography and/or echocardiography a 0.018 inch "hot tip" laser wire was used to perforate the atretic valve. Subsequently the valve was dilated with conventional balloon dilatation catheters up to the valve annulus diameter. RESULTS--Laser-assisted valve dilatation was successfully accomplished in nine children. In two neonates with pulmonary valve atresia, intact ventricular septum, and coexistent infundibular atresia the procedure resulted in cardiac tamponade: one died immediately and one later at surgery. During a follow up of 1-17 months (mean 11) two infants with pulmonary valve atresia and intact ventricular septum died (one with congestive cardiac failure). The remainder are either well palliated and do not require further procedures (three), or are awaiting further transcatheter or surgical procedures because of associated defects (four). CONCLUSIONS--Laser-assisted valve dilatation is a promising adjunct to surgery in this high risk group of patients. It may avoid surgery in some patients, and may reduce the number of surgical procedures in those requiring staged operations. Images PMID:8343325

  8. Global genetic analysis in mice unveils central role for cilia in congenital heart disease.

    PubMed

    Li, You; Klena, Nikolai T; Gabriel, George C; Liu, Xiaoqin; Kim, Andrew J; Lemke, Kristi; Chen, Yu; Chatterjee, Bishwanath; Devine, William; Damerla, Rama Rao; Chang, Chienfu; Yagi, Hisato; San Agustin, Jovenal T; Thahir, Mohamed; Anderton, Shane; Lawhead, Caroline; Vescovi, Anita; Pratt, Herbert; Morgan, Judy; Haynes, Leslie; Smith, Cynthia L; Eppig, Janan T; Reinholdt, Laura; Francis, Richard; Leatherbury, Linda; Ganapathiraju, Madhavi K; Tobita, Kimimasa; Pazour, Gregory J; Lo, Cecilia W

    2015-05-28

    Congenital heart disease (CHD) is the most prevalent birth defect, affecting nearly 1% of live births; the incidence of CHD is up to tenfold higher in human fetuses. A genetic contribution is strongly suggested by the association of CHD with chromosome abnormalities and high recurrence risk. Here we report findings from a recessive forward genetic screen in fetal mice, showing that cilia and cilia-transduced cell signalling have important roles in the pathogenesis of CHD. The cilium is an evolutionarily conserved organelle projecting from the cell surface with essential roles in diverse cellular processes. Using echocardiography, we ultrasound scanned 87,355 chemically mutagenized C57BL/6J fetal mice and recovered 218 CHD mouse models. Whole-exome sequencing identified 91 recessive CHD mutations in 61 genes. This included 34 cilia-related genes, 16 genes involved in cilia-transduced cell signalling, and 10 genes regulating vesicular trafficking, a pathway important for ciliogenesis and cell signalling. Surprisingly, many CHD genes encoded interacting proteins, suggesting that an interactome protein network may provide a larger genomic context for CHD pathogenesis. These findings provide novel insights into the potential Mendelian genetic contribution to CHD in the fetal population, a segment of the human population not well studied. We note that the pathways identified show overlap with CHD candidate genes recovered in CHD patients, suggesting that they may have relevance to the more complex genetics of CHD overall. These CHD mouse models and >8,000 incidental mutations have been sperm archived, creating a rich public resource for human disease modelling. PMID:25807483

  9. Global genetic analysis in mice unveils central role for cilia in congenital heart disease

    PubMed Central

    Li, You; Klena, Nikolai T.; Gabriel, George C; Liu, Xiaoqin; Kim, Andrew J.; Lemke, Kristi; Chen, Yu; Chatterjee, Bishwanath; Devine, William; Damerla, Rama Rao; Chang, Chien-fu; Yagi, Hisato; San Agustin, Jovenal T.; Thahir, Mohamed; Anderton, Shane; Lawhead, Caroline; Vescovi, Anita; Pratt, Herbert; Morgan, Judy; Haynes, Leslie; Smith, Cynthia L.; Eppig, Janan T.; Reinholdt, Laura; Francis, Richard; Leatherbury, Linda; Ganapathiraju, Madhavi K.; Tobita, Kimimasa; Pazour, Gregory J.; Lo, Cecilia W.

    2015-01-01

    Congenital heart disease (CHD) is the most prevalent birth defect, affecting nearly 1% of live births1, but the incidence of CHD is up to ten fold higher in human fetuses2,3. A genetic contribution is strongly suggested by the association of CHD with chromosome abnormalities and high recurrence risk4. Here we report findings from a recessive forward genetic screen in fetal mice, showing the cilium and cilia transduced cell signaling play important roles in the pathogenesis of CHD. The cilium is an evolutionarily conserved organelle projecting from the cell surface with essential roles in diverse cellular processes. Using echocardiography, we ultrasound scanned 87,355 chemically mutagenized C57BL/6J fetal mice and recovered 218 CHD mouse models. Whole exome sequencing identified 91 recessive CHD mutations in 61 genes. This included 34 cilia-related genes, 16 genes involved in cilia transduced cell signaling, and 10 genes regulating vesicular trafficking, a pathway important for ciliogenesis and cell signaling. Surprisingly, many CHD genes encoded interacting proteins, suggesting an interactome protein network may provide a larger genomic context for CHD pathogenesis. These findings provide novel insights into the potential Mendelian genetic contribution to CHD in the fetal population, a segment of the human population not well studied. We note pathways identified show overlap with CHD candidate genes recovered in CHD patients5, suggesting they may have relevance to the more complex genetics of CHD overall. These CHD mouse models and >8,000 incidental mutations are sperm archived, creating a rich public resource for human disease modeling. PMID:25807483

  10. Operative risk and outcome of surgery in adults with congenital valve disease.

    PubMed

    Luciani, Giovanni Battista; Viscardi, Francesca; Pilati, Mara; Barozzi, Luca; Faggian, Giuseppe; Mazzucco, Alessandro

    2008-01-01

    To define risk and outcome of surgery in adults with congenital valve disease (CVD), experience between 2002 and 2005 with 371 CVD operations (288 males, aged 56 +/- 9 years) was compared with 2102 for acquired valve disease (AVD) (69 +/- 22 years, p = 0.02). Diagnosis included: bicuspid aortic valve (BAV), 337, s/p ToF repair, 11; atrio-ventricular valve dysfunction, 10; other, 13. Associated lesions were present in 259 patients (70% vs. 17%, p = 0.001): ascending aorta, 205; right ventricular outflow tract obstruction, 40; coronary artery, 34; mitral/tricuspid valve, 27; septal defect, 17; subaortic stenosis, 4; aortic arch, 4; other, 3. Fifty-two patients (14% vs. 2.5% AVD, p = 0.001) had undergone 75 prior operations (1.4/patient) and 14 (3.8% vs. 1.9% AVD, p = 0.04) required urgent/emergent surgery (endocarditis, dissection). Valve repair was done in 36 (10% vs. 3% AVD, p = 0.02) and replacement in 335: stentless solution (native, autograft, xenograft) was offered to 101 (29%) patients. In BAV, partial root replacement was associated in 63, complete in 77 and ascending aorta in 92. Three (0.8%) hospital deaths occurred (vs. 1.9% AVD, p = 0.2) due to endocarditis. Twenty-six patients (7.0% vs. 10.8% AVD, p = 0.003) experienced complications (cardiac, 7; neurologic, 6; respiratory, 5; renal, 3; sepsis/multiple organ failure (MOF), 2; hemorrhage, 8). Urgent/emergent surgery predicted hospital mortality (p = 0.001). During 5-year follow-up (average 2.6 +/- 1.8 years), there was one late cardiac death and three reoperations (98% free). Despite higher prevalence of associated procedures, reoperation and emergent indication, operative risk in CVD is lower than in AVD, possibly because of younger age. Stentless valve surgery, allowing normal life-style (e.g., exercise, pregnancy), is increasingly preferred.

  11. Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

    PubMed Central

    Parkinson, William M.; Dookwah, Michelle; Dear, Mary Lynn; Gatto, Cheryl L.; Aoki, Kazuhiro; Tiemeyer, Michael; Broadie, Kendal

    2016-01-01

    ABSTRACT Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins. The resulting symptomatic hypoglycosylation causes multisystemic defects that include severe neurological impairments, revealing a particularly critical requirement for tightly regulated glycosylation in the nervous system. The most common CDG, CDG-Ia (PMM2-CDG), arises from phosphomannomutase type 2 (PMM2) mutations. Here, we report the generation and characterization of the first Drosophila CDG-Ia model. CRISPR-generated pmm2-null Drosophila mutants display severely disrupted glycosylation and early lethality, whereas RNAi-targeted knockdown of neuronal PMM2 results in a strong shift in the abundance of pauci-mannose glycan, progressive incoordination and later lethality, closely paralleling human CDG-Ia symptoms of shortened lifespan, movement impairments and defective neural development. Analyses of the well-characterized Drosophila neuromuscular junction (NMJ) reveal synaptic glycosylation loss accompanied by defects in both structural architecture and functional neurotransmission. NMJ synaptogenesis is driven by intercellular signals that traverse an extracellular synaptomatrix and are co-regulated by glycosylation and matrix metalloproteinases (MMPs). Specifically, trans-synaptic signaling by the Wnt protein Wingless (Wg) depends on the heparan sulfate proteoglycan (HSPG) co-receptor Dally-like protein (Dlp), which is regulated by synaptic MMP activity. Loss of synaptic MMP2, Wg ligand, Dlp co-receptor and downstream trans-synaptic signaling occurs with PMM2 knockdown. Taken together, this Drosophila CDG disease model provides a new avenue for the dissection of cellular and molecular mechanisms underlying neurological impairments and is a means by which to discover and test novel therapeutic treatment strategies. PMID:26940433

  12. Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

    PubMed Central

    Fung, Alan; Manlhiot, Cedric; Naik, Sapna; Rosenberg, Herschel; Smythe, John; Lougheed, Jane; Mondal, Tapas; Chitayat, David; McCrindle, Brian W.; Mital, Seema

    2013-01-01

    Background The healthcare burden related to congenital heart disease (CHD) is increasing with improving survival. We assessed changing trends in prenatal risk factors for CHD in the current era in a Canadian cohort. Methods and Results CHD patients <18 years old (n=2339) and controls without structural heart disease (n=199) were prospectively enrolled in an Ontario province‐wide biobank registry from 2008–2011. Family history, frequency of extra‐cardiac anomalies (ECAs), and antenatal risk factors were assessed. Temporal trends were analyzed and associations with CHD were measured using linear and logistic regression. Family history of CHD and frequency of major ECAs was higher in cases versus controls (P<0.001). Despite an increase in genetic testing in the recent era, only 9.5% of cases with CHD had a confirmed genetic diagnosis. Yield of genetic testing (ie, frequency of abnormal results) was higher in familial and syndromic cases. There was an increase in parental age at conception, maternal prepregnancy body mass index, maternal urinary tract infections, type 1 diabetes, and exposure to nonfertility medications during pregnancy from 1990–2011. Later year of birth, family history of CHD, presence of major ECAs, maternal smoking during pregnancy, and maternal medication exposure were associated with increased odds of CHD (P<0.05 for all). Advanced parental age was associated with increased odds of CHD caused by genetic abnormalities. Conclusions The increase in prenatal risk factors for CHD highlights the need for more rigorous ascertainment of genetic and environmental factors including gene‐environment interactions that contribute to CHD. PMID:23727699

  13. A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease

    PubMed Central

    Wang, Bo; Chen, Sun; Fu, Qihua; Sun, Kun

    2016-01-01

    Background Congenital heart disease (CHD) is the most prevalent type of birth defect in human, with high morbidity in infant. Several genes essential for heart development have been identified. GATA4 is a pivotal transcription factor that can regulate the cardiac development. Many GATA4 mutations have been identified in patients with different types of CHD. Aims In this study, the NKX2-5, HAND1 and GATA4 coding regions were sequenced in a family spanning three generations in which seven patients had CHD. Disease-causing potential variation in this family was evaluated by bioinformatics programs and the transcriptional activity of mutant protein was analyzed by the dual luciferase reporter assay. Results A novel GATA4 mutation, c.C931T (p.R311W), was identified and co-segregated with the affected patients in this family. The bioinformatics programs predicted this heterozygous mutation to be deleterious and the cross-species alignment of GATA4 sequences showed that the mutation occurred within a highly conserved amino acid. Even though it resided in the nuclear localization signal domain, the mutant protein didn’t alter its intracellular distribution. Nevertheless, further luciferase reporter assay demonstrated that the p.R311W mutation reduced the ability of GATA4 to activate its downstream target gene. Conclusions Our study identified a novel mutation in GATA4 that likely contributed to the CHD in this family. This finding expanded the spectrum of GATA4 mutations and underscored the pathogenic correlation between GATA4 mutations and CHD. PMID:27391137

  14. Medical and Obstetric Outcomes Among Pregnant Women With Congenital Heart Disease

    PubMed Central

    Thompson, Jennifer L.; Kuklina, Elena V.; Bateman, Brian T.; Callaghan, William M.; James, Andra H.; Grotegut, Chad A.

    2015-01-01

    OBJECTIVE To estimate nationwide trends in the prevalence of maternal congenital heart disease (CHD) and determine whether women with CHD are more likely than women without maternal CHD to have medical and obstetric complications. METHODS The 2000–2010 Nationwide Inpatient Sample was queried for International Classification of Diseases, 9th Revision, Clinical Modification codes to identify delivery hospitalizations of women with and without CHD. Trends in the prevalence of CHD were determined and then rates of complications were reported for CHD per 10,000 delivery hospitalizations. For Nationwide Inpatient Sample 2008–2010, logistic regression was used to examine associations between CHD and complications. RESULTS From 2000 to 2010, there was a significant linear increase in the prevalence of CHD from 6.4 to 9.0 per 10,000 delivery hospitalizations (P<.001). Multivariable logistic regression demonstrated that all selected medical complications, including mortality (17.8 compared with 0.7/10,000 deliveries, adjusted odds ratio [OR] 22.10, 95% confidence interval [CI] 13.96–34.97), mechanical ventilation (91.9 compared with 6.9/10,000, adjusted OR 9.94, 95% CI 7.99–12.37), and a composite cardiovascular outcome (614 compared with 34.3/10,000, adjusted OR 10.54, 95% CI 9.55–11.64) were more likely to occur among delivery hospitalizations with maternal CHD than without. Obstetric complications were also common among women with CHD. Delivery hospitalizations with maternal CHD that also included codes for pulmonary circulatory disorders had higher rates of medical complications compared with hospitalizations with maternal CHD without pulmonary circulatory disorders. CONCLUSION The number of delivery hospitalizations with maternal CHD in the United States is increasing, and although we were not able to determine whether correction of the cardiac lesion affected outcomes, these hospitalizations have a high burden of medical and obstetric complications. PMID

  15. Global genetic analysis in mice unveils central role for cilia in congenital heart disease.

    PubMed

    Li, You; Klena, Nikolai T; Gabriel, George C; Liu, Xiaoqin; Kim, Andrew J; Lemke, Kristi; Chen, Yu; Chatterjee, Bishwanath; Devine, William; Damerla, Rama Rao; Chang, Chienfu; Yagi, Hisato; San Agustin, Jovenal T; Thahir, Mohamed; Anderton, Shane; Lawhead, Caroline; Vescovi, Anita; Pratt, Herbert; Morgan, Judy; Haynes, Leslie; Smith, Cynthia L; Eppig, Janan T; Reinholdt, Laura; Francis, Richard; Leatherbury, Linda; Ganapathiraju, Madhavi K; Tobita, Kimimasa; Pazour, Gregory J; Lo, Cecilia W

    2015-05-28

    Congenital heart disease (CHD) is the most prevalent birth defect, affecting nearly 1% of live births; the incidence of CHD is up to tenfold higher in human fetuses. A genetic contribution is strongly suggested by the association of CHD with chromosome abnormalities and high recurrence risk. Here we report findings from a recessive forward genetic screen in fetal mice, showing that cilia and cilia-transduced cell signalling have important roles in the pathogenesis of CHD. The cilium is an evolutionarily conserved organelle projecting from the cell surface with essential roles in diverse cellular processes. Using echocardiography, we ultrasound scanned 87,355 chemically mutagenized C57BL/6J fetal mice and recovered 218 CHD mouse models. Whole-exome sequencing identified 91 recessive CHD mutations in 61 genes. This included 34 cilia-related genes, 16 genes involved in cilia-transduced cell signalling, and 10 genes regulating vesicular trafficking, a pathway important for ciliogenesis and cell signalling. Surprisingly, many CHD genes encoded interacting proteins, suggesting that an interactome protein network may provide a larger genomic context for CHD pathogenesis. These findings provide novel insights into the potential Mendelian genetic contribution to CHD in the fetal population, a segment of the human population not well studied. We note that the pathways identified show overlap with CHD candidate genes recovered in CHD patients, suggesting that they may have relevance to the more complex genetics of CHD overall. These CHD mouse models and >8,000 incidental mutations have been sperm archived, creating a rich public resource for human disease modelling.

  16. Cleft Palate, Retrognathia and Congenital Heart Disease in Velo-Cardio-Facial Syndrome: A Phenotype Correlation Study

    PubMed Central

    Friedman, Marcia A.; Miletta, Nathanial; Roe, Cheryl; Wang, Dongliang; Morrow, Bernice E.; Kates, Wendy R.; Higgins, Anne Marie; Shprintzen, Robert J.

    2011-01-01

    Objective Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. Methods This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY. Each combination of congenital heart disease, cleft palates, and retrognathia was analyzed by chi square or Fisher exact test. Results For all categories of congenital heart disease and cleft palate or retrognathia no significant associations were found, with the exception of submucous cleft palate and retrognathia (nominal p=0.0325) and occult submucous cleft palate and retrognathia (nominal p=0.000013). Conclusions Congenital heart disease and cleft palate do not appear to be correlated in human subjects with VCFS despite earlier suggestions from animal models. Possible explanations include modification of the effect of TBX1 by genes outside of the 22q11.2 region that may further influence the formation of the palate or heart, or the presence of epigenetic factors that may effect genes within the deleted region, modifying genes elsewhere, or polymorphisms on the normal copy of chromosome 22. Lastly, it is possible that TBX1 plays a role in palate formation in some

  17. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  18. A closer look at the developmental interplay between parenting and perceived health in adolescents with congenital heart disease.

    PubMed

    Rassart, Jessica; Luyckx, Koen; Goossens, Eva; Apers, Silke; Moons, Philip

    2014-12-01

    The present study examined associations between parenting and perceived health in adolescents with congenital heart disease (CHD) using a longitudinal trajectory approach. Adolescents with CHD were selected from the database of pediatric and congenital cardiology of the University Hospitals Leuven. A total of 429 adolescents (M age = 16 at T1) participated in the present study, comprising four measurement waves spanning approximately 3 years. Latent class growth analysis was used to identify trajectory classes of parenting and perceived health. Whereas adolescents from democratic households reported the most favorable health outcomes, adolescents from authoritarian, overprotective, and psychologically controlling families (all characterized by relatively high levels of psychological control) showed an increased risk for poor perceived health over time. Hence, the present study found substantial developmental associations between parenting and perceived health in adolescents with CHD. Future research should investigate whether working on the parent-adolescent relationship can foster patients' health. PMID:24819301

  19. Report from the international society for nomenclature of paediatric and congenital heart disease: creation of a visual encyclopedia illustrating the terms and definitions of the international pediatric and congenital cardiac code.

    PubMed

    Giroud, Jorge M; Jacobs, Jeffrey P; Spicer, Diane; Backer, Carl; Martin, Gerard R; Franklin, Rodney C G; Béland, Marie J; Krogmann, Otto N; Aiello, Vera D; Colan, Steven D; Everett, Allen D; William Gaynor, J; Kurosawa, Hiromi; Maruszewski, Bohdan; Stellin, Giovanni; Tchervenkov, Christo I; Walters, Henry L; Weinberg, Paul; Anderson, Robert H; Elliott, Martin J

    2010-10-01

    Tremendous progress has been made in the field of pediatric heart disease over the past 30 years. Although survival after heart surgery in children has improved dramatically, complications still occur, and optimization of outcomes for all patients remains a challenge. To improve outcomes, collaborative efforts are required and ultimately depend on the possibility of using a common language when discussing pediatric and congenital heart disease. Such a universal language has been developed and named the International Pediatric and Congenital Cardiac Code (IPCCC). To make the IPCCC more universally understood, efforts are under way to link the IPCCC to pictures and videos. The Archiving Working Group is an organization composed of leaders within the international pediatric cardiac medical community and part of the International Society for Nomenclature of Paediatric and Congenital Heart Disease (www.ipccc.net). Its purpose is to illustrate, with representative images of all types and formats, the pertinent aspects of cardiac diseases that affect neonates, infants, children, and adults with congenital heart disease, using the codes and definitions associated with the IPCCC as the organizational backbone. The Archiving Working Group certifies and links images and videos to the appropriate term and definition in the IPCCC. These images and videos are then displayed in an electronic format on the Internet. The purpose of this publication is to report the recent progress made by the Archiving Working Group in establishing an Internet-based, image encyclopedia that is based on the standards of the IPCCC.

  20. Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease

    PubMed Central

    Li, Fei Feng; Deng, Xia; Zhou, Jing; Yan, Peng; Zhao, Er Ying; Liu, Shu Lin

    2016-01-01

    Congenital heart disease (CHD) is a complex illness with high rates of morbidity and mortality. In embryonic development, the heart is the first formed organ, which is strictly controlled by gene regulatory networks, including transcription factors, signaling pathways, epigenetic factors and microRNAs. Bone morphogenetic protein (BMP)-2 and -4 are essential in cardiogenesis as they can induce the expression of transcription factors, NKX2-5 and GATA binding protein 4, which are important in the development of the heart. The inhibition of BMP-2 and 4- inhibits the late expression of NKX2-5 and affects cardiac differentiation. The aim of the present study was to investigate whether BMP-2 and -4 variations may be associated with CHD in Chinese Han populations. The rs1049007, rs235768 and rs17563 single nucleotide polymorphisms (SNPs), which are genetic variations located within the translated region of the BMP-2 and -4, were evaluated in 230 patients with CHD from the Chinese Han population and 160 non CHD control individuals. Statistical analyses were performed using the χ2 test, implemented using SPSS software (version 13.0). The Hardy Weinberg equilibrium test was performed on the population using online Online Encyclopedia for Genetic Epidemiology studies software, and multiple-sequence alignments of the BMP proteins were performed using Vector NTI software. No statistically significant associations were identified between these genetic variations and the risk of CHD (rs1049007, P value=0.560; rs235768, P value=0.972; rs17563, P value=0.787). In addition, no correlation was found between the patients with CHD and the non-CHD control individuals. Therefore, the rs1049007, rs235768 and rs17563 genetic variations of BMP-2 were not associated with CHD in the Chinese Han population. PMID:27357418

  1. Congenital heart disease and pulmonary arterial hypertension in South America (2013 Grover Conference series)

    PubMed Central

    Flores, Patricia C.; Diaz, Gabriel F.; Mesquita, Sonia M. F.

    2014-01-01

    Abstract South America is a territory of 17,819,100 km2, where ∼388 million people live in 13 countries. In the region, access to medical assistance (e.g., for treatment of cardiovascular disorders) is relatively easy in metropolitan areas but difficult in remote places such as the Andes and the Amazon. Altitudes up to ∼6,700 m influence the prevalence of congenital heart disease (CHD) and pulmonary arterial hypertension (PAH). In tertiary centers, CHD is now treated earlier in life but remains an important etiology of PAH. In adolescents and adults with PAH assisted at institutions devoted to treatment of cardiovascular disorders, the relative frequency of PAH-CHD (∼50%–60%) is even higher than that of idiopathic PAH. In one big tertiary center in São Paulo, Brazil, the prevalence of advanced PAH in children and adults with CHD is 1.2% and 4.2%, respectively. In young patients with cardiac septal defects (aged up to 2 years), pulmonary vascular abnormalities are a matter of concern in the decision about operability in 4.9% of cases. Access to specific PAH drugs is not uniform in South America, being unrealistic in remote places. In big cities, there are real possibilities for management of complex CHD, neonatal disorders, and even cardiac transplantation. Research activities have been implemented at clinical, translational, and basic levels. However, because of social and economic inequalities and political issues, access to best standards of medical care remains a problem in the region as a whole. PMID:25621150

  2. Exercise Performance in Children and Young Adults After Complete and Incomplete Repair of Congenital Heart Disease.

    PubMed

    Rosenblum, Omer; Katz, Uriel; Reuveny, Ronen; Williams, Craig A; Dubnov-Raz, Gal

    2015-12-01

    Few previous studies have addressed exercise capacity in patients with corrected congenital heart disease (CHD) and significant anatomical residua. The aim of this study was to determine the aerobic fitness and peak cardiac function of patients with corrected CHD with complete or incomplete repairs, as determined by resting echocardiography. Children, adolescents and young adults (<40 years) with CHD from both sexes, who had previously undergone biventricular corrective therapeutic interventions (n = 73), and non-CHD control participants (n = 76) underwent cardiopulmonary exercise testing. The CHD group was further divided according to the absence/presence of significant anatomical residua on a resting echocardiogram ("complete"/"incomplete" repair groups). Aerobic fitness and cardiac function were compared between groups using linear regression and analysis of covariance. Peak oxygen consumption, O2 pulse and ventilatory threshold were significantly lower in CHD patients compared with controls (all p < 0.01). Compared with the complete repair group, the incomplete repair group had a significantly lower mean peak work rate, age-adjusted O2 pulse (expressed as % predicted) and a higher VE/VCO2 ratio (all p ≤ 0.05). Peak oxygen consumption was comparable between the subgroups. Patients after corrected CHD have lower peak and submaximal exercise parameters. Patients with incomplete repair of their heart defect had decreased aerobic fitness, with evidence of impaired peak cardiac function and lower pulmonary perfusion. Patients that had undergone a complete repair had decreased aerobic fitness attributed only to deconditioning. These newly identified differences explain why in previous studies, the lowest fitness was seen in patients with the most hemodynamically significant heart malformations.

  3. Prevalence of congenital heart disease in patients undergoing surgery for major gastrointestinal malformations: an Indian study

    PubMed Central

    Gokhroo, Rajendra K; Gupta, Sajal; Arora, Garima; Bisht, Devendra S; Padmanabhan, Deepak; Soni, Varsha

    2015-01-01

    Background The association of congenital heart disease (CHD) with malformations of the gastrointestinal (GI) tract/abdominal wall is known. The rates of cardiac malformations reported in previous studies of these anomalies are highly variable. Objective To find the prevalence and pattern of CHD in patients with major gastrointestinal malformations (anorectal malformations, oesophageal atresia/tracheo-oesophageal fistula, and omphalocoele) undergoing surgery at a tertiary care hospital in India. Methods From July 2012 to December 2013, 43 patients (34 (79%) male, 9 (21%) female) were evaluated by clinical examination, ECG, chest radiography, and colour Doppler echocardiography. Results Of the 43 patients, 26 (60.46%) had CHD. The most common GI malformation was anorectal malformation: 32 cases (74.41%), of whom 16 (50%) had CHD. The second most common malformation was oesophageal atresia/tracheo-oesophageal fistula: 5 cases (11.62%), all (100%) with CHD. The third group comprised patients with omphalocoele: 4 cases (9.3%), 3 of whom (75%) had CHD. The fourth group comprised patients with VACTERAL (vertebral anomalies, anal atresia, cardiovascular malformations, tracheo-oesophageal fistula, renal and limb anomalies) association—2 cases (4.6%), all (100%) with CHD. The most common CHD was isolated atrial septal defect (ASD) (73%), followed by ASD + ventricular septal defect (VSD) + patent ductus arteriosus (PDA) (7.6%), ASD + VSD (3.8%), ASD + PDA (3.8%), VSD (3.8%), PDA (3.8%), and coarctation of the aorta (3.8%). Conclusions We found the frequency of CHD in patients with GI malformations was very high, the most common presentation being ASD. Our study indicates the need for larger scale studies to determine the prevalence of CHD in patients with GI malformations in the Indian population. PMID:27326210

  4. Cardiopulmonary Bypass Down-Regulates NOD Signaling and Inflammatory Response in Children with Congenital Heart Disease.

    PubMed

    Yang, Qinghua; Liao, Jianyi; Huang, Jie; Li, Yi Ping; Huang, Shungen; Zhou, Huiting; Xie, Yi; Pan, Jian; Li, Yanhong; Wang, Jiang Huai; Wang, Jian

    2016-01-01

    In the present study, we aimed to examine the impact of cardiopulmonary bypass (CPB) on expression and function of NOD1 and NOD2 in children with congenital heart disease (CHD), in an attempt to clarify whether NOD1 and NOD2 signaling is involved in the modulation of host innate immunity against postoperative infection in pediatric CHD patients. Peripheral blood samples were collected from pediatric CHD patients at five different time points: before CPB, immediately after CPB, and 1, 3, and 7 days after CPB. Real-time PCR, Western blot, and ELISA were performed to measure the expression of NOD1 and NOD2, their downstream signaling pathways, and inflammatory cytokines at various time points. Proinflammatory cytokine IL-6 and TNF-α levels in response to stimulation with either the NOD1 agonist Tri-DAP or the NOD2 agonist MDP were significantly reduced after CPB compared with those before CPB, which is consistent with a suppressed inflammatory response postoperatively. The expression of phosphorylated RIP2 and activation of the downstream signaling pathways NF-κB p65 and MAPK p38 upon Tri-DAP or MDP stimulation in PBMCs were substantially inhibited after CPB. The mRNA level of NOD1 and protein levels of NOD1 and NOD2 were also markedly decreased after CPB. Our results demonstrated that NOD-mediated signaling pathways were substantially inhibited after CPB, which correlates with the suppressed inflammatory response and may account, at least in part, for the increased risk of postoperative infection in pediatric CHD patients. PMID:27622570

  5. Self-representation of children suffering from congenital heart disease and maternal competence.

    PubMed

    Perricone, Giovanna; Polizzi, Concetta; De Luca, Francesco

    2013-02-01

    Child development may be subject to forms of motor, physical, cognitive and self-representation impairments when complex congenital heart disease (CHD) occurs. In some cases, inadequacy of both self-representation as well as the family system are displayed. It seems to be important to search the likely internal and external resources of the CHD child, and the possible connections among such resources, which may help him/her to manage his/her own risk condition. The research project inquires the possible resources related to the self-representation and self-esteem levels of the CHD child, and those related to maternal self-perception as competent mothers. A group of 25 children (mean age = 10.2; SD=1.8) suffering from specific forms of CHD, and a group made up of their relative mothers (mean age = 38.2; SD=5) were studied. The tools used were the Human Figure Drawing, to investigate child body-related self-representation; the TMA scale (Self-esteem Multidimensional Test), to investigate the child's self-esteem; and the Q-sort questionnaire, to assess how mothers perceived their maternal competence. Data concerning the likely correlations between the child's self-representation and the maternal role competence show [that] positive correlations between some indicators of maternal competence, specific aspects of CHD children's self-representation (mothers' emotional coping and children's self-image adequacy) and self-esteem (mothers' emotional scaffolding and children's self-esteem at an emotional level). By detecting the occurrence of specific correlations among resources of both child and mother, the study provides cardiologists with information that is useful for building a relationship with the families concerned, which would seem to enhance the quality of the process of the cure itself.

  6. Patient Genotypes Impact Survival After Surgery For Isolated Congenital Heart Disease

    PubMed Central

    Kim, Daniel Seung; Kim, Jerry H.; Burt, Amber A.; Crosslin, David R.; Burnham, Nancy; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Nicolson, Susan C.; Spray, Thomas L.; Stanaway, Ian B.; Nickerson, Deborah A.; Russell, Mark W.; Hakonarson, Hakon; Gaynor, J. William; Jarvik, Gail P.

    2014-01-01

    Background Survival after cardiac surgery in infancy requires adaptive responses from oxidative stress management and vascular regulation pathways. We tested the hypothesis that genetic variation in these pathways influences post-operative survival in non-syndromic congenital heart disease (CHD) children. Methods This is an analysis of a cohort of non-syndromic CHD patients who underwent cardiac surgery with cardiopulmonary bypass before 6 months of age (n=422). Six single nucleotide polymorphisms (SNPs) in 6 genes involved in oxidative stress and vascular response pathways, identified through a priori literature search, were tested for effects on transplant-free survival. Survival curves, adjusting for confounding covariates, were calculated using the Cox Proportional Hazard Models. Results Long-term survival was strongly associated with VEGFA SNP rs833069 (p=7.03×10−4) and SOD2 SNP rs2758331 (p=0.019). To test for joint effects of the 2 SNPs on transplant-free survival, the genotypes were grouped to form a risk score reflecting the cumulative number of risk alleles (0–4 alleles/patient). A higher risk score based on the VEGFA and SOD2 SNP genotypes was associated with worse transplant-free survival (p=3.02×10−4) after confounder adjustment. The total burden of risk alleles was additive; individuals with the highest risk score of 4 (n=59 subjects, 14.2% of the cohort) had a total covariate-adjusted HR=15.64 for worse transplant-free survival. Conclusions After cardiac surgery, infants who are homozygous for the high-risk alleles for both the VEGFA and SOD2 SNPs have an approximate 16-fold increased risk of death or heart transplant; suggesting that genetic variants are important modifiers of survival after surgery for CHD. PMID:24811984

  7. X-Ray Magnetic Resonance Fusion to Internal Markers and Utility in Congenital Heart Disease Catheterization

    PubMed Central

    Dori, Yoav; Sarmiento, Marily; Glatz, Andrew C.; Gillespie, Matthew J.; Jones, Virginia M.; Harris, Matthew A.; Whitehead, Kevin K.; Fogel, Mark A.; Rome, Jonathan J.

    2012-01-01

    Background X-ray magnetic resonance fusion (XMRF) allows for use of 3D data during cardiac catheterization. However, to date, technical requirements have limited the use of this modality in clinical practice. We report on a new internal-marker XMRF method that we have developed and describe how we used XMRF during cardiac catheterization in congenital heart disease. Methods and Results XMRF was performed in a phantom and in 23 patients presenting for cardiac catheterization who also needed cardiac MRI for clinical reasons. The registration process was performed in <5 minutes per patient, with minimal radiation (0.004 to 0.024 mSv) and without contrast. Registration error was calculated in a phantom and in 8 patients using the maximum distance between angiographic and 3D model boundaries. In the phantom, the measured error in the anteroposterior projection had a mean of 1.15 mm (standard deviation, 0.73). The measured error in patients had a median of 2.15 mm (interquartile range, 1.65 to 2.56 mm). Internal markers included bones, airway, image artifact, calcifications, and the heart and vessel borders. The MRI data were used for road mapping in 17 of 23 (74%) cases and camera angle selection in 11 of 23 (48%) cases. Conclusions Internal marker–based registration can be performed quickly, with minimal radiation, without the need for contrast, and with clinically acceptable accuracy using commercially available software. We have also demonstrated several potential uses for XMRF in routine clinical practice. This modality has the potential to reduce radiation exposure and improve catheterization outcomes. PMID:21536785

  8. Congenital heart disease and pulmonary arterial hypertension in South America (2013 Grover Conference series).

    PubMed

    Lopes, Antonio Augusto; Flores, Patricia C; Diaz, Gabriel F; Mesquita, Sonia M F

    2014-09-01

    South America is a territory of 17,819,100 km(2), where ∼388 million people live in 13 countries. In the region, access to medical assistance (e.g., for treatment of cardiovascular disorders) is relatively easy in metropolitan areas but difficult in remote places such as the Andes and the Amazon. Altitudes up to ∼6,700 m influence the prevalence of congenital heart disease (CHD) and pulmonary arterial hypertension (PAH). In tertiary centers, CHD is now treated earlier in life but remains an important etiology of PAH. In adolescents and adults with PAH assisted at institutions devoted to treatment of cardiovascular disorders, the relative frequency of PAH-CHD (∼50%-60%) is even higher than that of idiopathic PAH. In one big tertiary center in São Paulo, Brazil, the prevalence of advanced PAH in children and adults with CHD is 1.2% and 4.2%, respectively. In young patients with cardiac septal defects (aged up to 2 years), pulmonary vascular abnormalities are a matter of concern in the decision about operability in 4.9% of cases. Access to specific PAH drugs is not uniform in South America, being unrealistic in remote places. In big cities, there are real possibilities for management of complex CHD, neonatal disorders, and even cardiac transplantation. Research activities have been implemented at clinical, translational, and basic levels. However, because of social and economic inequalities and political issues, access to best standards of medical care remains a problem in the region as a whole.

  9. 3-D volumetric MRI evaluation of the placenta in fetuses with complex congenital heart disease

    PubMed Central

    Andescavage, Nickie; Yarish, Alexa; Donofrio, Mary; Bulas, Dorothy; Evangelou, Iordanis; Vezina, Gilbert; McCarter, Robert; DuPlessis, Adre; Limperopoulos, Catherine

    2015-01-01

    Introduction Placental insufficiency remains a common cause of perinatal mortality and neurodevelopmental morbidity. Congenital heart disease (CHD) in the fetus and its relationship to placental function is unknown. This study explores placental health and its relationship to neonatal outcomes by comparing placental volumes in healthy pregnancies and pregnancies complicated by CHD using in vivo three-dimensional MRI studies. Methods In a prospective observational study, pregnant women greater than 18 weeks gestation with normal pregnancies or pregnancies complicated by CHD were recruited and underwent fetal MR imaging. The placenta was manually outlined and the volume was calculated in cm3. Brain volume was also calculated and clinical data were also collected. Relationships, including interactive effects, between placental and fetal growth, including brain growth, were evaluated using longitudinal multiple linear regression analysis. Results 135 women underwent fetal MRI between 18 and 39 weeks gestation (mean 31.6 ± 4.4). Placental volume increased exponentially with gestational age (p=0.041). Placental volume was positively associated with birth weight (p <0.001) and increased more steeply with birth weight in CHD-affected fetuses (p=0.046). Total brain and cerebral volumes were smaller in the CHD group (p<0.001), but brainstem volume (p<0.001) was larger. Placental volumes were not associated with brain volumes. Discussion Impaired placental growth in CHD is associated with gestational age and birth weight at delivery. Abnormalities in placental development may contribute to the significant morbidity in this high-risk population. Assessment of placental volume by MRI allows for in vivo assessments of placental development. PMID:26190037

  10. Retrospective Multicenter Study of Respiratory Syncytial Virus Prophylaxis in Korean Children with Congenital Heart Diseases

    PubMed Central

    Kim, Ah Young; Jung, Se Yong; Choi, Jae Young; Kim, Gi Beom; Kim, Young-Hwue; Shim, Woo Sup; Kang, I-Seok

    2016-01-01

    Background and Objectives We conducted a review of current data on respiratory syncytial virus (RSV) prophylaxis with palivizumab, in Korean children with congenital heart diseases (CHD). In 2009, the Korean guideline for RSV prophylaxis had established up to five shots monthly per RSV season, only for children <1 year of age with hemodynamic significance CHD (HS-CHD). Subjects and Methods During the RSV seasons in 2009-2015, we performed a retrospective review of data for 466 infants with CHD, examined at six centers in Korea. Results Infants received an average of 3.7±1.9 (range, 1-10) injections during the RSV season. Fifty-seven HS-CHD patients (12.2%) were hospitalized with breakthrough RSV bronchiolitis, with a recurrence in three patients, one year after the initial check-up. Among patients with simple CHD, only five (1.1%) patients received one additional dose postoperatively, as per the limitations set by the Korean guideline. Among the 30 deaths (6.4%), five (1.1%) were attributed to RSV infection; three to simple CHD, one to Tetralogy of Fallot, and one to hypertrophic cardiomyopathy (HCM). Of the three HCM patients that exceeded guidelines for RSV prophylaxis, two (66.6%) were hospitalized, and one died of RSV infection (33.3%). Conclusion In accordance to the Korean guideline, minimal injections of palivizumab were administered to patients having HS-CHD

  11. Three dimensional CT angiography for patients with congenital heart disease: scanning protocol for pediatric patients.

    PubMed

    Jelnin, Vladimir; Co, Jennifer; Muneer, Basharat; Swaminathan, Balasubramanian; Toska, Suzanna; Ruiz, Carlos E

    2006-01-01

    The objective of our study was to determine the contrast attenuation level that yields high quality cardiac three-dimensional (3-D) images and to predict the contrast injection rate (IR), from body weight, to reach this attenuation level. Enhanced electron beam computerized tomography (EBCT) with 3-D reconstruction is useful in delineating cardiac anatomy in complex congenital heart disease (CHD). The current experience of using electron beam angiography (EBA) in pediatric CHD is limited. Well-defined contrast injection protocols, specifically the contrast IR, have not been standardized when compared to those for adults. Establishing the contrast IR is essential in obtaining high quality 3-D images. We retrospectively analyzed the studies of 115 pediatric patients with CHD. EBA images were divided into group 1 with good quality 3-D images and group 2 with poor quality. The mean of measured enhancement level, expressed in Hounsfield units (HU), and contrast IR were analyzed in both groups. Spearman correlation was used to examine the relationship between weight and IR. The IR was predicted from weight using simple linear regression analysis. The mean level of enhancement was 344 +/- 91 and 174 +/- 31 HU for group 1 and group 2, respectively. Group 1 consisted of 103 patients (90%) and the IR strongly correlated with weight (rho = 0.861, P < 0.01). The IR was estimated from the linear regression equation IR = 0.59 + 0.056 x weight. Necessary contrast enhancement level for quality 3-D reconstruction should be greater than 250 HU, and the IR can be estimated from patient's weight. PMID:16342271

  12. Impact on parents of bronchiolitis hospitalization of full-term, preterm and congenital heart disease infants

    PubMed Central

    2012-01-01

    Background The objective of this work was to explore the impact on parents of the bronchiolitis hospitalization of their infant using the Impact of Bronchiolitis Hospitalization Questionnaire (IBHQ©). Methods Four hundred sixty-three infants aged less than 1 year and hospitalized for bronchiolitis were included in a French observational study during the 2008–2009 season. Parents were asked to complete the IBHQ at hospital discharge and 3 months later. IBHQ scores, ranging from 0 (no impact) to 100 (highest impact), were compared according to gestational age (full-term, 33–36 wGA, ≤ 32 wGA) and the presence of congenital heart disease (CHD). The potential drivers of impact were explored using multivariate linear regressions. Results The study included 332 full-terms, 71 infants born at 33–36 wGA, and 60 at ≤ 32 wGA; 28 infants had a CHD. At hospital discharge, 9 of the 12 IBHQ mean scores were above 40, indicating a marked impact on parents. Three months later, all mean scores were lower but 5 were still greater than 40. At discharge, the length of hospitalization had a significant effect on IBHQ worries and distress, fear for future, guilt and impact on daily organization scores (p<0.01); the parents’ educational level had a significant effect on IBHQ worries and distress, fear for future, impact on daily organization and financial impact scores (p<0.05). The only statistically significant difference found between the parents of preterm and full-term infants was for the physical impact score at discharge (p=0.004). Conclusions Bronchiolitis hospitalization has conspicuous emotional, physical and organizational consequences on parents and siblings, which persist 3 months after hospital discharge. The main drivers of the impact were length of hospital stay and parents’ educational level, while infants’ gestational age or the presence of a CHD had little influence. PMID:23114197

  13. Cerebral oxygen metabolism in neonates with congenital heart disease quantified by MRI and optics.

    PubMed

    Jain, Varsha; Buckley, Erin M; Licht, Daniel J; Lynch, Jennifer M; Schwab, Peter J; Naim, Maryam Y; Lavin, Natasha A; Nicolson, Susan C; Montenegro, Lisa M; Yodh, Arjun G; Wehrli, Felix W

    2014-03-01

    Neonatal congenital heart disease (CHD) is associated with altered cerebral hemodynamics and increased risk of brain injury. Two novel noninvasive techniques, magnetic resonance imaging (MRI) and diffuse optical and correlation spectroscopies (diffuse optical spectroscopy (DOS), diffuse correlation spectroscopy (DCS)), were employed to quantify cerebral blood flow (CBF) and oxygen metabolism (CMRO(2)) of 32 anesthetized CHD neonates at rest and during hypercapnia. Cerebral venous oxygen saturation (S(v)O(2)) and CBF were measured simultaneously with MRI in the superior sagittal sinus, yielding global oxygen extraction fraction (OEF) and global CMRO(2) in physiologic units. In addition, microvascular tissue oxygenation (StO(2)) and indices of microvascular CBF (BFI) and CMRO(2) (CMRO(2)(i)) in the frontal cortex were determined by DOS/DCS. Median resting-state MRI-measured OEF, CBF, and CMRO(2) were 0.38, 9.7 mL/minute per 100 g and 0.52 mL O(2)/minute per 100 g, respectively. These CBF and CMRO(2) values are lower than literature reports for healthy term neonates (which are sparse and quantified using different methods) and resemble values reported for premature infants. Comparison of MRI measurements of global S(v)O(2), CBF, and CMRO(2) with corresponding local DOS/DCS measurements demonstrated strong linear correlations (R(2)=0.69, 0.67, 0.67; P<0.001), permitting calibration of DOS/DCS indices. The results suggest that MRI and optics offer new tools to evaluate cerebral hemodynamics and metabolism in CHD neonates.

  14. Risk Factors for Prosthetic Pulmonary Valve Failure in Patients With Congenital Heart Disease.

    PubMed

    Oliver, Jose Maria; Garcia-Hamilton, Diego; Gonzalez, Ana Elvira; Ruiz-Cantador, Jose; Sanchez-Recalde, Angel; Polo, Maria Luz; Aroca, Angel

    2015-10-15

    The incidence and risk factors for prosthetic pulmonary valve failure (PPVF) should be considered when determining optimal timing for pulmonary valve replacement (PVR) in asymptomatic patients with congenital heart disease (CHD). The cumulative freedom for reintervention due to PPVF after 146 PVR in 114 patients with CHD was analyzed. Six potential risk factors (underlying cardiac defect, history of palliative procedures, number of previous cardiac interventions, hemodynamic indication for PVR, type of intervention, and age at intervention) were analyzed using Cox proportional hazard modeling. Receiver operating characteristic (ROC) curves were used for discrimination. Internal validation in patients with tetralogy of Fallot was also performed. Median age at intervention was 23 years. There were 60 reinterventions due to PPVF (41%). Median event-free survival was 14 years (95% confidence interval [CI] 12 to 16 years). The only independent risk factor was the age at intervention (hazard ratio [HR] 0.93, 95% CI 0.90 to 0.97; p = 0.001; area under the ROC curve 0.95, 95% CI 0.92 to 0.98; p <0.001). The best cut-off point was 20.5 years. Freedom from reintervention for PPVF 15 years after surgery was 70% when it was performed at age >20.5 years compared with 33% when age at intervention was <20.5 years (p = 0.004). Internal validation in 102 PVR in patient cohort with tetralogy of Fallot (ROC area 0.98, 95% CI 0.96 to 1.0; p <0.001) was excellent. In conclusion, age at intervention is the main risk factor of reintervention for PPVF. The risk of reintervention is 2-fold when PVR is performed before the age of 20.5 years.

  15. Plasmatic ADAMTS-13 metalloprotease and von Willebrand factor in children with cyanotic congenital heart disease

    PubMed Central

    Soares, R.P.S.; Bydlowski, S.P.; Nascimento, N.M.; Thomaz, A.M.; Bastos, E.N.M.; Lopes, A.A.

    2013-01-01

    Changes in plasma von Willebrand factor concentration (VWF:Ag) and ADAMTS-13 activity (the metalloprotease that cleaves VWF physiologically) have been reported in several cardiovascular disorders with prognostic implications. We therefore determined the level of these proteins in the plasma of children with cyanotic congenital heart disease (CCHD) undergoing surgical treatment. Forty-eight children were enrolled (age 0.83 to 7.58 years). Measurements were performed at baseline and 48 h after surgery. ELISA, collagen-binding assays and Western blotting were used to estimate antigenic and biological activities, and proteolysis of VWF multimers. Preoperatively, VWF:Ag and ADAMTS-13 activity were decreased (65 and 71% of normal levels considered as 113 (105-129) U/dL and 91 ± 24% respectively, P < 0.003) and correlated (r = 0.39, P = 0.0064). High molecular weight VWF multimers were not related, suggesting an interaction of VWF with cell membranes, followed by proteolytic cleavage. A low preoperative ADAMTS-13 activity, a longer activated partial thromboplastin time and the need for cardiopulmonary bypass correlated with postoperative bleeding (P < 0.05). Postoperatively, ADAMTS-13 activity increased but less extensively than VWF:Ag (respectively, 2.23 and 2.83 times baseline, P < 0.0001), resulting in an increased VWF:Ag/ADAMTS-13 activity ratio (1.20 to 1.54, respectively, pre- and postoperative median values, P = 0.0029). ADAMTS-13 consumption was further confirmed by decreased ADAMTS-13 antigenic concentration (0.91 ± 0.30 to 0.70 ± 0.25 µg/mL, P < 0.0001) and persistent proteolysis of VWF multimers. We conclude that, in pediatric CCHD, changes in circulating ADAMTS-13 suggest enzyme consumption, associated with abnormal structure and function of VWF. PMID:23558858

  16. Screening for Congenital Heart Disease in Infants with Down Syndrome: Is Universal Echocardiography Necessary?

    PubMed

    Bogarapu, Soujanya; Pinto, Nelangi M; Etheridge, Susan P; Sheng, Xiaoming; Liesemer, Kirk N; Young, Paul C; Saarel, Elizabeth V

    2016-10-01

    Current guidelines recommend that all neonates with Down syndrome (DS) be screened for congenital heart disease (CHD) with an echocardiogram. We sought to determine the effectiveness of a more accessible and less expensive screening strategy consisting of physical examination, electrocardiogram (ECG), and chest X-ray. The Intermountain Healthcare Enterprise Data Warehouse was used to identify infants with a positive karyotype for DS who were born between January 1, 2000, and June 30, 2012. Infants with the results of an echocardiogram, physical examination, ECG, and chest X-ray documented at age ≤6 months were included. Infants with an abnormality on physical examination, ECG, or chest X-ray were considered to have a positive screen. Echocardiography was the gold standard for calculating sensitivity, specificity, positive and negative predictive values for major CHD, defined as any heart defect that would typically require intervention during early childhood. Of 408 eligible infants, 240 (59 %) had major CHD, of whom 228 (95 %) had a positive screen. Screening missed eight infants with moderate/large patent ductus arteriosus and four infants with a moderate/large atrial septal defect. In 11 of these infants, the defect resolved spontaneously by age ≤4 months. One infant had a moderate atrial septal defect persisting at 2-year follow-up. Sensitivity and specificity of the screening for detecting CHD were 95 % (CI 92-98 %) and 41 % (CI 32-47 %); positive and negative predictive values were 69 % (CI 63-73 %) and 85 % (CI 75-92 %). Screening with physical examination, ECG, and chest X-ray is an effective method of identifying which infants with DS should have an echocardiogram. This method would have resulted in 69 (17 %) fewer echocardiograms without missing infants with major CHD. PMID:27278630

  17. Congenital Heart Disease (CHD) and Environmental Physical Activity, Kaunas, 1995-2005.

    NASA Astrophysics Data System (ADS)

    Stoupel, E.; Dulskiene, V.; Kuciene, R.; Abramson, E.; Israelevich, P.; Sulkes, J.

    2009-12-01

    Recent studies described a number of fetal development sides related to the environmental physical activity. The aim of this study was to check the possible links between congenital heart disease (CHD) born in a non-selected medical network and indices of environmental physical activity. Children born with CHD in Kaunas, Lithuania, in years 1995-2005 were analyzed at the end of the first year of life (including also those died after birth from this condition). Monthly distribution of CHD (total - 371, both gender (178 boys and 193 girls), 41435 births) were compared with parameters of solar (SA), geomagnetic (GMA) and cosmic ray (CRA) activity, as well as the year, at the month of birth, 9 months before and at year of birth and one year before. CRA was represented by neutron activity on the Earth's surface. Heliogeophysical data were obtained from space research centers in the USA, Russia and Finland. There was found a significant correlation between yearly number of births (r = - 0.9, p = 0.00012). Monthly number of CHD was correlated with SA and CRA often highly at the beginning of pregnancy both in monthly and yearly (r = - 0.7, p = 0.025 for SA, r = 0.8, p = 0.005 for CRA) comparison. For boys the correlation was stronger, but also it was significant for girls. GMA has not shown significant effects. It is concluded that the number of yearly and monthly CHD is connected with SA and CRA in pregnancy. Boys show high levels in these correlations. The mechanism of the cosmophysical effects on human development and temporal distribution of CHD deserve special studies.

  18. Congenital cardiac disease in childhood x socioeconomic conditions: a relationship to be considered in public health?

    PubMed Central

    Barros, Thayanny Lopes do Vale; Dias, Marly de Jesus Sá; Nina, Rachel Vilela de Abreu Haickel

    2014-01-01

    Introduction Congenital heart defects, cardiac malformations that occur in the embryonic period, constitute a serious health problem. They cover a proportion of 8-10 per 1000 live births and contribute to infant mortality. Objective To identify the socioeconomic status of children undergoing cardiac surgery at the Hospital Universitário da Universidade Federal do Maranhão, in São Luis, the existence of material elements that contribute to worsening conditions. Methods We conducted a retrospective study with a quantitative approach, descriptive and reflective, from the interviews conducted by the Social Service Social with families of children with heart disease from January 2011 to July 2012. Results A total of 95 interviews, the results reveal that (75.79%) of children have elements that suggest poor socioeconomic conditions. It also shows that only 66.33% lived in brick house, while (31.73%) in mud, adobe and straw houses. With regard to income, it showed that only 4.08% received 1-2 minimum wages, while the remaining (95.9%) with benchmarks oscillating half the minimum wage (27.55%), 1/4 of the minimum wage and (24.48%) and income below 70 dollars per person, featuring extreme poverty. On the social security situation prevailing at children with no ties to 61.22%. With respect to benefits, we found that only (12.24%) of children were in the enjoyment of the Continuous Cash Benefit - CCB. Conclusion Poor socioeconomic conditions listed as major obstacles in meeting the needs, resulting in the maintenance of health conditions and even allowing the aggravation of an existing pathology. PMID:25372921

  19. Usefulness of Routine Head Ultrasound Scans Before Surgery for Congenital Heart Disease

    PubMed Central

    Rios, Danielle R.; Welty, Stephen E.; Gunn, Julia K.; Beca, John; Minard, Charles G.; Goldsworthy, Michelle; Coleman, Lee; Hunter, Jill V.; Andropoulos, Dean B.

    2013-01-01

    OBJECTIVE: The purpose of this study was to assess the utility of preoperative head ultrasound scan (HUS) in a cohort of newborns also undergoing preoperative MRI as part of a prospective research study of brain injury in infants having surgery for congenital heart disease (CHD). METHODS: A total of 167 infants diagnosed with CHD were included in this 3-center study. None of the patients had clinical signs or symptoms of preoperative brain injury, and all patients received both HUS and brain MRI before undergoing surgical intervention. HUS and MRI results were reported by experienced neuroradiologists who were blinded to any specific clinical details of the study participants. The findings of the individual imaging modes were compared to evaluate for the presence of brain injury. RESULTS: Preoperative brain injury was present on HUS in 5 infants (3%) and on MRI in 44 infants (26%) (P < .001). Four of the HUS showed intraventricular hemorrhage not seen on MRI, suggesting false-positive results, and the fifth showed periventricular leukomalacia. The predominant MRI abnormality was white matter injury (n = 32). Other findings included infarct (n = 16) and hemorrhage (n = 5). CONCLUSIONS: Preoperative brain injury on MRI was present in 26% of infants with CHD, but only 3% had any evidence of brain injury on HUS. Among positive HUS, 80% were false-positive results. Our findings suggest that routine HUS is not indicated in asymptomatic term or near-term neonates undergoing surgery for CHD, and MRI may be a preferable tool when the assessment of these infants is warranted. PMID:23690521

  20. Self-representation of children suffering from congenital heart disease and maternal competence.

    PubMed

    Perricone, Giovanna; Polizzi, Concetta; De Luca, Francesco

    2013-02-01

    Child development may be subject to forms of motor, physical, cognitive and self-representation impairments when complex congenital heart disease (CHD) occurs. In some cases, inadequacy of both self-representation as well as the family system are displayed. It seems to be important to search the likely internal and external resources of the CHD child, and the possible connections among such resources, which may help him/her to manage his/her own risk condition. The research project inquires the possible resources related to the self-representation and self-esteem levels of the CHD child, and those related to maternal self-perception as competent mothers. A group of 25 children (mean age = 10.2; SD=1.8) suffering from specific forms of CHD, and a group made up of their relative mothers (mean age = 38.2; SD=5) were studied. The tools used were the Human Figure Drawing, to investigate child body-related self-representation; the TMA scale (Self-esteem Multidimensional Test), to investigate the child's self-esteem; and the Q-sort questionnaire, to assess how mothers perceived their maternal competence. Data concerning the likely correlations between the child's self-representation and the maternal role competence show [that] positive correlations between some indicators of maternal competence, specific aspects of CHD children's self-representation (mothers' emotional coping and children's self-image adequacy) and self-esteem (mothers' emotional scaffolding and children's self-esteem at an emotional level). By detecting the occurrence of specific correlations among resources of both child and mother, the study provides cardiologists with information that is useful for building a relationship with the families concerned, which would seem to enhance the quality of the process of the cure itself. PMID:23667730

  1. Self-representation of children suffering from congenital heart disease and maternal competence

    PubMed Central

    Perricone, Giovanna; Polizzi, Concetta; De Luca, Francesco

    2013-01-01

    Child development may be subject to forms of motor, physical, cognitive and self-representation impairments when complex congenital heart disease (CHD) occurs. In some cases, inadequacy of both self-representation as well as the family system are displayed. It seems to be important to search the likely internal and external resources of the CHD child, and the possible connections among such resources, which may help him/her to manage his/her own risk condition. The research project inquires the possible resources related to the self-representation and self-esteem levels of the CHD child, and those related to maternal self-perception as competent mothers. A group of 25 children (mean age = 10.2; SD=1.8) suffering from specific forms of CHD, and a group made up of their relative mothers (mean age = 38.2; SD=5) were studied. The tools used were the Human Figure Drawing, to investigate child body-related self-representation; the TMA scale (Self-esteem Multidimensional Test), to investigate the child's self-esteem; and the Q-sort questionnaire, to assess how mothers perceived their maternal competence. Data concerning the likely correlations between the child's self-representation and the maternal role competence show [that] positive correlations between some indicators of maternal competence, specific aspects of CHD children's self-representation (mothers' emotional coping and children's self-image adequacy) and self-esteem (mothers' emotional scaffolding and children's self-esteem at an emotional level). By detecting the occurrence of specific correlations among resources of both child and mother, the study provides cardiologists with information that is useful for building a relationship with the families concerned, which would seem to enhance the quality of the process of the cure itself. PMID:23667730

  2. Morphometric study of the fetal development of the human hip joint: significance for congenital hip disease.

    PubMed Central

    Walker, J. M.; Goldsmith, C. H.

    1981-01-01

    Hip joints (280) from 140 human fetuses, obtained from abortions and deaths in the perinatal period, were studied. The fetuses ranged from 8.7 to 40 cm in crown-rump length and are believed to be between 12 and 42 weeks in age. The joints were dissected, morphology inspected, and measurements taken of the depth and diameter of the acetabulum, the diameter of the femoral head, length and width of the ligament of the head, the neck-shaft, and torsion angles of the proximal femur. Regression models were fitted to determine which would best predict the growth pattern. Multivariate analysis of variance showed no significant differences between males and females or between the right and left sides. Acetabular depth was shown to be the slowest-growing hip variable, increasing less than fourfold in the period studied. Acetabular indices less than 50 percent indicate a shallow socket at term. Femoral head and acetabular diameter demonstrated a strong relationship (r = 0.860) and in many joints the femoral head diameter exceeded that of the acetabulum. Considerable variability was demonstrated in both femoral angles. The femoral angles showed only low correlation with the other hip variables. These observations indicate that soft tissue structures about the joint must play an important role in neonatal joint stability. The explanation of greater female and left side involvement in congenital hip disease must lie in factors other than growth changes of hip dimensions. Neither angle appears to be a useful indicator of normal joint development. Images FIG. 2 FIG. 3 FIG. 4 FIG. 10 FIG. 11 FIG. 13 PMID:7342490

  3. Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease.

    PubMed

    Li, Fei-Feng; Deng, Xia; Zhou, Jing; Yan, Peng; Zhao, Er-Ying; Liu, Shu-Lin

    2016-08-01

    Congenital heart disease (CHD) is a complex illness with high rates of morbidity and mortality. In embryonic development, the heart is the first formed organ, which is strictly controlled by gene regulatory networks, including transcription factors, signaling pathways, epigenetic factors and microRNAs. Bone morphogenetic protein (BMP)-2 and -4 are essential in cardiogenesis as they can induce the expression of transcription factors, NKX2‑5 and GATA binding protein 4, which are important in the development of the heart. The inhibition of BMP‑2 and ‑4 inhibits the late expression of NKX2-5 and affects cardiac differentiation. The aim of the present study was to investigate whether BMP-2 and ‑4 variations may be associated with CHD in Chinese Han populations. The rs1049007, rs235768 and rs17563 single nucleotide polymorphisms (SNPs), which are genetic variations located within the translated region of the BMP-2 and -4, were evaluated in 230 patients with CHD from the Chinese Han population and 160 non-CHD control individuals. Statistical analyses were performed using the χ2 test, implemented using SPSS software (version 13.0). The Hardy-Weinberg equilibrium test was performed on the population using online Online Encyclopedia for Genetic Epidemiology studies software, and multiple-sequence alignments of the BMP proteins were performed using Vector NTI software. No statistically significant associations were identified between these genetic variations and the risk of CHD (rs1049007, P‑value=0.560; rs235768, P‑value=0.972; rs17563, P‑value=0.787). In addition, no correlation was found between the patients with CHD and the non‑CHD control individuals. Therefore, the rs1049007, rs235768 and rs17563 genetic variations of BMP-2 were not associated with CHD in the Chinese Han population. PMID:27357418

  4. Assessment of Pulmonary Artery Stiffness of Repaired Congenital Heart Disease Patients

    NASA Astrophysics Data System (ADS)

    Lee, Namheon; Banerjee, Rajit; Taylor, Michael; Hor, Kan

    2012-10-01

    Surgical correction or palliation of congenital heart disease (CHD) often requires augmenting the main pulmonary artery (MPA) with non-native material or placing a cylindrical graft. The degree to which this intervention affects PA compliance is largely unknown. In this study, the MPA stiffness characteristics were assessed by its compliance, distensibility, and pressure-strain modulus. Coregistered velocity encoded phase-contrast MRI and cardiac catheterization data were available for a cohort of repaired CHD patients (n=8) and controls (n=3). All patients were repaired with either an RV-PA conduit or a RV outflow tract patch. We measured the MPA area change by MRI and MPA pressure during the cath. The measurements were taken through or just distal to the conduit. The MPA compliance and distensibility for the patients were significantly lower than the controls: compliance (9.8±10.8 vs 28.3±7.7mm^2/mmHg, p<0.05), distensibility (2.2±1.5 vs 6.6±2.1%Area change/mmHg, p=0.05). The patients had a significantly higher pressure-strain modulus (152.3±116.4mmHg, p<0.05) than the controls (35.8±10.6mmHg). The abnormally elevated PA stiffness due to the rigidity of the conduit or patch material may cause a compliance mismatch resulting in high stress levels contributing to the observed progressive PA dilatation. This may be a factor in the progressive RV dilatation seen in this cohort of repaired CHD patients.

  5. Digital angiography in the pediatric patient with congenital heart disease: comparison with standard methods

    SciTech Connect

    Levin, A.R.; Goldberg, H.L.; Borer, J.S.; Rothenberg, L.N.; Nolan, F.A.; Engle, M.A.; Cohen, B.; Skelly, N.T.; Carter, J.

    1983-08-01

    Digital subtraction angiography (DSA) permits high-resolution cardiac imaging with relatively low doses of contrast medium and reduced radiation exposure. These are potential advantages in children with congenital heart disease. Computer-based DSA (30 frames/sec) and conventional cutfilm angiography (6 frames/sec) or cineangiography (60 frames/sec) were compared in 42 patients, ages 2 months to 18 years (mean 7.8 years) and weighing 3.4 to 78.5 kg (mean 28.2 kg). There were 29 diagnoses that included valvular regurgitant lesions, obstructive lesions, various shunt abnormalities, and a group of miscellaneous anomalies. For injections made at a site distant from the lesion and on the right side of the circulation, the mean dose of contrast medium was 60% to 100% of the conventional dose given during standard angiography. With injections made close to the lesion and on the left side of the circulation, the mean dose of contrast medium was 27.5% to 42% of the conventional dose. Radiation exposure for each technique was markedly reduced in all age groups. A total of 92 digital subtraction angiograms were performed. Five studies were suboptimal because too little contrast medium was injected; in the remaining 87 injections, DSA and conventional studies resulted in identical diagnoses in 81 instances (p less than .001 vs chance). The remaining six injections made during DSA failed to confirm diagnoses made angiographically by standard cutfilm angiography or cineangiography. We conclude that DSA usually provides diagnostic information equivalent to that available from cutfilm angiography and cineangiography, but DSA requires considerably lower doses of contrast medium and less radiation exposure than standard conventional methods.

  6. Cardiopulmonary Bypass Down-Regulates NOD Signaling and Inflammatory Response in Children with Congenital Heart Disease

    PubMed Central

    Li, Yi Ping; Huang, Shungen; Zhou, Huiting; Xie, Yi; Pan, Jian; Li, Yanhong; Wang, Jiang Huai; Wang, Jian

    2016-01-01

    In the present study, we aimed to examine the impact of cardiopulmonary bypass (CPB) on expression and function of NOD1 and NOD2 in children with congenital heart disease (CHD), in an attempt to clarify whether NOD1 and NOD2 signaling is involved in the modulation of host innate immunity against postoperative infection in pediatric CHD patients. Peripheral blood samples were collected from pediatric CHD patients at five different time points: before CPB, immediately after CPB, and 1, 3, and 7 days after CPB. Real-time PCR, Western blot, and ELISA were performed to measure the expression of NOD1 and NOD2, their downstream signaling pathways, and inflammatory cytokines at various time points. Proinflammatory cytokine IL-6 and TNF-α levels in response to stimulation with either the NOD1 agonist Tri-DAP or the NOD2 agonist MDP were significantly reduced after CPB compared with those before CPB, which is consistent with a suppressed inflammatory response postoperatively. The expression of phosphorylated RIP2 and activation of the downstream signaling pathways NF-κB p65 and MAPK p38 upon Tri-DAP or MDP stimulation in PBMCs were substantially inhibited after CPB. The mRNA level of NOD1 and protein levels of NOD1 and NOD2 were also markedly decreased after CPB. Our results demonstrated that NOD-mediated signaling pathways were substantially inhibited after CPB, which correlates with the suppressed inflammatory response and may account, at least in part, for the increased risk of postoperative infection in pediatric CHD patients. PMID:27622570

  7. Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy

    PubMed Central

    Swisher, Matthew; Jonas, Richard; Tian, Xin; Lee, Elaine S.; Lo, Cecilia W.; Leatherbury, Linda

    2010-01-01

    Objective Patients with heterotaxy and complex congenital heart disease (CHD) undergo cardiac surgery with high mortality and morbidity. Recent studies have revealed an association among heterotaxy, CHD, and primary ciliary dyskinesia (PCD). We undertook a retrospective review of patients undergoing cardiac surgery at Children’s National Medical Center between 2004 to 2008 to explore the hypothesis that in heterotaxy patients there is increased mortality and respiratory complications. Methods and Results Retrospective review was performed on post-surgical outcomes of 87 patients with heterotaxy and CHD exhibiting the full spectrum of situs abnormalities associated with heterotaxy. As controls, 634 cardiac surgical patients with CHD but without laterality defects were selected, and surgical complexities were similar with a median RACHS-1 score of 3.0 for both groups. We found the mean length of postoperative hospital stay (17 vs 11 days) and mechanical ventilation (11 vs 4 days) were significantly increased in the heterotaxy patients. Also elevated were rates of tracheostomies (6.9% vs. 1.6%; Odds Ratio 4.6), extracorporeal membrane oxygenation (ECMO) support (12.6% vs. 4.9%: Odds Ratio 2.8), prolonged ventilatory courses (23% vs. 12.3%; Odds Ratio 2.1) and post-surgical deaths (16.1% vs. 4.7%; Odds Ratio 3.9). Conclusions Our findings show heterotaxy patients had more post-surgical events with increased post-surgical mortality and risk for respiratory complications as compared to controls with similar RACHS-1 surgical complexity scores. We speculate that increased respiratory complications maybe due to ciliary dysfunction. Further, studies are needed to explore the basis for the increased surgical risks for heterotaxy patients undergoing cardiac surgery. PMID:20884020

  8. Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei

    PubMed Central

    Chiang, Szu-Hui; Ho, Hui-Chen; Liu, Yu-Ling; Chung, Yuan-Fang; Lin, Li-Ju; Chen, Ming-Ren; Chang, Jia-Kan; Soong, Wen-Jue; Lin, Hsiu-Lian; Hwang, Betau; Hsiao, Kwang-Jen

    2016-01-01

    Background Early detection of critical congenital heart disease (CCHD) can significantly reduce morbidity and mortality among newborns. We investigate the feasibility of implementing a community-based newborn CCHD screening program in Taipei. Methods Twelve birthing facilities in Taipei participated in a trial screening program between October 1, 2013, and March 31, 2014. Newborns underwent pulse oximetry at 24–36 h old, with probes attached to the right hand and one lower limb. Any screening saturation ≥95% in either extremity, with an absolute difference of ≤3% between the right hand and foot, was accepted as a screening pass. A screening result was considered as a fail if the oxygen saturation was <95% at either probe site, on 3 separate occasions, each separated by 30 min or the first result was <95% at either probe site, and any subsequent oxygen saturation measurement was <90%. Public health nurses would follow up all missed or refused cases. Results Of the 6,387 live births, 6,296 newborns (coverage rate: 6,296/6,387 = 98.6%) underwent appropriate pulse oximetry screening. Sixteen newborns (0.25%) were reported to have a failed screening result. Five of these screen positive newborns were confirmed with CCHD; two of them were diagnosed solely attributed to the failed screening results. The false-positive rate was 0.18%. Implementing a 6-month screening program for CCHD produced good case detection rate, while using efficient screening and referral systems. Conclusion This program was successful in integrating screening, referral and public health tracking systems. The protocol outlined in this report could provide a community-based model for worldwide implementation. PMID:27073996

  9. Establishment of Relational Model of Congenital Heart Disease Markers and GO Functional Analysis of the Association between Its Serum Markers and Susceptibility Genes

    PubMed Central

    Liu, Min; Zhao, Luosha; Yuan, Jiaying

    2016-01-01

    Purpose. The purpose of present study was to construct the best screening model of congenital heart disease serum markers and to provide reference for further prevention and treatment of the disease. Methods. Documents from 2006 to 2014 were collected and meta-analysis was used for screening susceptibility genes and serum markers closely related to the diagnosis of congenital heart disease. Data of serum markers were extracted from 80 congenital heart disease patients and 80 healthy controls, respectively, and then logistic regression analysis and support vector machine were utilized to establish prediction models of serum markers and Gene Ontology (GO) functional annotation. Results. Results showed that NKX2.5, GATA4, and FOG2 were susceptibility genes of congenital heart disease. CRP, BNP, and cTnI were risk factors of congenital heart disease (p < 0.05); cTnI, hs-CRP, BNP, and Lp(a) were significantly close to congenital heart disease (p < 0.01). ROC curve indicated that the accuracy rate of Lp(a) and cTnI, Lp(a) and BNP, and BNP and cTnI joint prediction was 93.4%, 87.1%, and 97.2%, respectively. But the detection accuracy rate of the markers' relational model established by support vector machine was only 85%. GO analysis suggested that NKX2.5, GATA4, and FOG2 were functionally related to Lp(a) and BNP. Conclusions. The combined markers model of BNP and cTnI had the highest accuracy rate, providing a theoretical basis for the diagnosis of congenital heart disease. PMID:27118988

  10. Lipid profiles and inflammatory markers after periodontal treatment in children with congenital heart disease and at risk for atherosclerosis

    PubMed Central

    Bresolin, Adriana Chassot; Pronsatti, Mariana Menegassi; Pasqualotto, Larissa Nicole; Nassar, Patricia Oehlmeyer; Jorge, Alex Sandro; da Silva, Edson Antonio Alves; Nassar, Carlos Augusto

    2013-01-01

    Due to the biological associations between periodontal and cardiovascular diseases, as well as the fact that atherosclerosis begins in childhood, behavior based on oral health care and metabolic control from an early age is essential for patients with cardiovascular disease. The aim of this research was to examine the effect of full-mouth scaling and root planing on the reduction of periodontal disease in children with congenital heart disease. In this study, treatments were related to clinical periodontal parameters and also to blood ones, such as lipid profile and inflammatory markers. The patients were divided into two groups: group 1 (n=17), scaling and root planing; and group 2 (n=16), full-mouth scaling and root planing. The results showed a significant improvement in clinical periodontal parameters (P<0.05) in both groups. Considering lipid parameters, total cholesterol, triglycerides, and very-low-density lipoprotein parameters showed significant improvement (P<0.05). There was also an improvement in C-reactive protein (ultrasensitive) in the group treated with scaling and root planing (P<0.05). Fibrinogen and interleukin-6 parameters improved (P<0.05) in both groups. We suggest that both periodontal treatments were effective in children with congenital heart disease, though neither demonstrated superiority. PMID:24250224

  11. Evaluation of Complications of Heart Surgery in Children With Congenital Heart Disease at Dena Hospital of Shiraz

    PubMed Central

    Mirzaei, Maryam; Mirzaei, Samaneh; Sepahvand, Elham; Koshkaki, Afifeh Rahmanian; Jahromi, Marzieh Kargar

    2016-01-01

    Introduction: Today, with progress in the field of congenital heart surgery, different complicated actions are done in children. These actions may be associated with several complications, especially open heart surgery in which the cardiopulmonary bypass (CPB) is used. Serious complications can be caused high morbidity and mortality rates. Present study has been performed to determine the incidence of morbidity and mortality in cardiac surgery in children. Method: In a cross-sectional retrospective, records of 203 patients undergoing surgery for congenital heart disease in Dena hospital during 2013-2015 were reviewed for incidence of complications. Data was analyzed by using descriptive and analytical statistics and using SPSS version 18. Results: The mean age of samples was 3/65±4/47 years. The majority of samples (73/8%) were undergoing open surgery. The overall adverse cardiovascular complications were respectively, renal complications (44/3%), lung (40/3%), anemia (35/9%), heart (34/4%), gastrointestinal (17/2%), brain (14/2%), need for re-intubation of the trachea 11/3%), infection (7/8%) required reoperation (5/9%) and vascular complications (1/4%). Conclusion: High incidence of complications after congenital heart surgery makes necessary attention to complications and their treatment after surgery. It is necessary to apply the measures and careful monitoring of patients to minimize these effects. PMID:26652092

  12. Evolution of weight and height of children with congenital heart disease undergoing surgical treatment

    PubMed Central

    Peres, Murilo Bertazzo; Croti, Ulisses Alexandre; de Godoy, Moacir Fernandes; Marchi, Carlos Henrique De; Hassem Sobrinho, Sírio; Beani, Lilian; Moscardini, Airton Camacho; Braile, Domingo Marcolino

    2014-01-01

    Objective To evaluate the height and weight development of children with congenital heart disease undergoing surgery with the goal of determining when they reach the threshold of normal development and whether there are differences between patients with developmental pattern below the level of normality preoperatively (z-score<-2 for the analyzed parameter) in comparison to the total group of cardiac patients. Methods We prospectively followed up 27 children undergoing operation into five time periods: preoperatively and at four subsequent outpatient appointments: 1st month, 3rd month, 6th month and 12th month after hospital discharge. The anthropometric parameters used were median z-score (MZ), weight (WAZ), height (HAZ), subscapular skinfold (SSFAZ), upper arm circumference (UAC) and triceps skinfold (TSFAZ). The evolution assessment of the parameters was performed by analysis of variance and comparison with the general normal population from unpaired t test, both in the total group of cardiac patients, and in subgroups with preoperative parameters below the normal level (Zm<-2). Results In the total group there was no significant evolution of MZ of all parameters. WAZ was statistically lower than the normal population until the 1st month of follow-up (P=0.028); HAZ only preoperatively (P=0.044), SSFAZ in the first month (P=0.015) and at 12th month (P=0.038), UAC and TSFAZ were always statistically equal to the general population. In patients whose development was below the level of normality, there were important variation of WAZ (P=0.002), HAZ (P=0.001) and UAC (P=0.031) after the operation, and the WAZ was lower than the normal population until the 3rd month (P=0.015); HAZ and UAC, until the first month (P=0.024 and P=0.039 respectively), SSFAZ, up to the 12th month (P=0.005), the TSFAZ only preoperatively (P=0.011). Conclusion The operation promoted the return to normalcy for those with heart disease in general within up to three months, but for the group of

  13. Implantable cardioverter defibrillator therapy in pediatric and congenital heart disease patients: a single tertiary center experience in Korea

    PubMed Central

    Jin, Bo Kyung; Bang, Ji Seok; Choi, Eun Young; Kim, Gi Beom; Kwon, Bo Sang; Noh, Chung Il; Choi, Jung Yun; Kim, Woong Han

    2013-01-01

    Purpose The use of implantable cardioverter defibrillators (ICDs) to prevent sudden cardiac death is increasing in children and adolescents. This study investigated the use of ICDs in children with congenital heart disease. Methods This retrospective study was conducted on the clinical characteristics and effectiveness of ICD implantation at the department of pediatrics of a single tertiary center between 2007 and 2011. Results Fifteen patients underwent ICD implantation. Their mean age at the time of implantation was 14.5±5.4 years (range, 2 to 22 years). The follow-up duration was 28.9±20.4 months. The cause of ICD implantation was cardiac arrest in 7, sustained ventricular tachycardia in 6, and syncope in 2 patients. The underlying disorders were as follows: ionic channelopathy in 6 patients (long QT type 3 in 4, catecholaminergic polymorphic ventricular tachycardia [CPVT] in 1, and J wave syndrome in 1), cardiomyopathy in 5 patients, and postoperative congenital heart disease in 4 patients. ICD coils were implanted in the pericardial space in 2 children (ages 2 and 6 years). Five patients received appropriate ICD shock therapy, and 2 patients received inappropriate shocks due to supraventricular tachycardia. During follow-up, 2 patients required lead dysfunction-related revision. One patient with CPVT suffered from an ICD storm that was resolved using sympathetic denervation surgery. Conclusion The overall ICD outcome was acceptable in most pediatric patients. Early diagnosis and timely ICD implantation are recommended for preventing sudden death in high-risk children and patients with congenital heart disease. PMID:23559974

  14. Cardiovascular cast model fabrication and casting effectiveness evaluation in fetus with severe congenital heart disease or normal heart.

    PubMed

    Wang, Yu; Cao, Hai-yan; Xie, Ming-xing; He, Lin; Han, Wei; Hong, Liu; Peng, Yuan; Hu, Yun-fei; Song, Ben-cai; Wang, Jing; Wang, Bin; Deng, Cheng

    2016-04-01

    To investigate the application and effectiveness of vascular corrosion technique in preparing fetal cardiovascular cast models, 10 normal fetal heart specimens with other congenital disease (control group) and 18 specimens with severe congenital heart disease (case group) from induced abortions were enrolled in this study from March 2013 to June 2015 in our hospital. Cast models were prepared by injecting casting material into vascular lumen to demonstrate real geometries of fetal cardiovascular system. Casting effectiveness was analyzed in terms of local anatomic structures and different anatomical levels (including overall level, atrioventricular and great vascular system, left-sided and right-sided heart), as well as different trimesters of pregnancy. In our study, all specimens were successfully casted. Casting effectiveness analysis of local anatomic structures showed a mean score from 1.90±1.45 to 3.60±0.52, without significant differences between case and control groups in most local anatomic structures except left ventricle, which had a higher score in control group (P=0.027). Inter-group comparison of casting effectiveness in different anatomical levels showed no significant differences between the two groups. Intra-group comparison also revealed undifferentiated casting effectiveness between atrioventricular and great vascular system, or left-sided and right-sided heart in corresponding group. Third-trimester group had a significantly higher perfusion score in great vascular system than second-trimester group (P=0.046), while the other anatomical levels displayed no such difference. Vascular corrosion technique can be successfully used in fabrication of fetal cardiovascular cast model. It is also a reliable method to demonstrate three-dimensional anatomy of severe congenital heart disease and normal heart in fetus.

  15. Consanguinity Mapping of Congenital Heart Disease in a South Indian Population

    PubMed Central

    McGregor, Tracy L.; Misri, Amit; Bartlett, Jackie; Orabona, Guilherme; Friedman, Richard D.; Sexton, David; Maheshwari, Sunita; Morgan, Thomas M.

    2010-01-01

    Background Parental consanguinity is a risk factor for congenital heart disease (CHD) worldwide, suggesting that a recessive inheritance model may contribute substantially to CHD. In Bangalore, India, uncle-niece and first cousin marriages are common, presenting the opportunity for an international study involving consanguinity mapping of structural CHD. We sought to explore the recessive model of CHD by conducting a genome-wide linkage analysis utilizing high-density oligonucleotide microarrays and enrolling 83 CHD probands born to unaffected consanguineous parents. Methodology/Principal Findings In this linkage scan involving single nucleotide polymorphism (SNP) markers, the threshold for genome-wide statistical significance was set at the standard log-of-odds (LOD) score threshold of 3.3, corresponding to 1995∶1 odds in favor of linkage. We identified a maximal single-point LOD score of 3.76 (5754∶1 odds) implicating linkage of CHD with the major allele (G) of rs1055061 on chromosome 14 in the HOMEZ gene, a ubiquitously expressed transcription factor containing leucine zipper as well as zinc finger motifs. Re-sequencing of HOMEZ exons did not reveal causative mutations in Indian probands. In addition, genotyping of the linked allele (G) in 325 U.S. CHD cases revealed neither genotypic nor allele frequency differences in varied CHD cases compared to 605 non-CHD controls. Conclusions/Significance Despite the statistical power of the consanguinity mapping approach, no single gene of major effect could be convincingly identified in a clinically heterogeneous sample of Indian CHD cases born to consanguineous parents. However, we are unable to exclude the possibility that noncoding regions of HOMEZ may harbor recessive mutations leading to CHD in the Indian population. Further research involving large multinational cohorts of patients with specific subtypes of CHD is needed to attempt replication of the observed linkage peak on chromosome 14. In addition, we

  16. ALDH1A2 (RALDH2) genetic variation in human congenital heart disease

    PubMed Central

    2009-01-01

    Background Signaling by the vitamin A-derived morphogen retinoic acid (RA) is required at multiple steps of cardiac development. Since conversion of retinaldehyde to RA by retinaldehyde dehydrogenase type II (ALDH1A2, a.k.a RALDH2) is critical for cardiac development, we screened patients with congenital heart disease (CHDs) for genetic variation at the ALDH1A2 locus. Methods One-hundred and thirty-three CHD patients were screened for genetic variation at the ALDH1A2 locus through bi-directional sequencing. In addition, six SNPs (rs2704188, rs1441815, rs3784259, rs1530293, rs1899430) at the same locus were studied using a TDT-based association approach in 101 CHD trios. Observed mutations were modeled through molecular mechanics (MM) simulations using the AMBER 9 package, Sander and Pmemd programs. Sequence conservation of observed mutations was evaluated through phylogenetic tree construction from ungapped alignments containing ALDH8 s, ALDH1Ls, ALDH1 s and ALDH2 s. Trees were generated by the Neighbor Joining method. Variations potentially affecting splicing mechanisms were cloned and functional assays were designed to test splicing alterations using the pSPL3 splicing assay. Results We describe in Tetralogy of Fallot (TOF) the mutations Ala151Ser and Ile157Thr that change non-polar to polar residues at exon 4. Exon 4 encodes part of the highly-conserved tetramerization domain, a structural motif required for ALDH oligomerization. Molecular mechanics simulation studies of the two mutations indicate that they hinder tetramerization. We determined that the SNP rs16939660, previously associated with spina bifida and observed in patients with TOF, does not affect splicing. Moreover, association studies performed with classical models and with the transmission disequilibrium test (TDT) design using single marker genotype, or haplotype information do not show differences between cases and controls. Conclusion In summary, our screen indicates that ALDH1A2 genetic

  17. NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

    PubMed Central

    Bouveret, Romaric; Waardenberg, Ashley J; Schonrock, Nicole; Ramialison, Mirana; Doan, Tram; de Jong, Danielle; Bondue, Antoine; Kaur, Gurpreet; Mohamed, Stephanie; Fonoudi, Hananeh; Chen, Chiann-mun; Wouters, Merridee A; Bhattacharya, Shoumo; Plachta, Nicolas; Dunwoodie, Sally L; Chapman, Gavin; Blanpain, Cédric; Harvey, Richard P

    2015-01-01

    We take a functional genomics approach to congenital heart disease mechanism. We used DamID to establish a robust set of target genes for NKX2-5 wild type and disease associated NKX2-5 mutations to model loss-of-function in gene regulatory networks. NKX2-5 mutants, including those with a crippled homeodomain, bound hundreds of targets including NKX2-5 wild type targets and a unique set of "off-targets", and retained partial functionality. NKXΔHD, which lacks the homeodomain completely, could heterodimerize with NKX2-5 wild type and its cofactors, including E26 transformation-specific (ETS) family members, through a tyrosine-rich homophilic interaction domain (YRD). Off-targets of NKX2-5 mutants, but not those of an NKX2-5 YRD mutant, showed overrepresentation of ETS binding sites and were occupied by ETS proteins, as determined by DamID. Analysis of kernel transcription factor and ETS targets show that ETS proteins are highly embedded within the cardiac gene regulatory network. Our study reveals binding and activities of NKX2-5 mutations on WT target and off-targets, guided by interactions with their normal cardiac and general cofactors, and suggest a novel type of gain-of-function in congenital heart disease. DOI: http://dx.doi.org/10.7554/eLife.06942.001 PMID:26146939

  18. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  19. The care of adults with congenital heart disease across the globe: Current assessment and future perspective: A position statement from the International Society for Adult Congenital Heart Disease (ISACHD).

    PubMed

    Webb, Gary; Mulder, Barbara J; Aboulhosn, Jamil; Daniels, Curt J; Elizari, Maria Amalia; Hong, Gu; Horlick, Eric; Landzberg, Michael J; Marelli, Ariane J; O'Donnell, Clare P; Oechslin, Erwin N; Pearson, Dorothy D; Pieper, Els P G; Saxena, Anita; Schwerzmann, Markus; Stout, Karen K; Warnes, Carole A; Khairy, Paul

    2015-09-15

    The number of adults with congenital heart disease (CHD) has increased markedly over the past few decades as a result of astounding successes in pediatric cardiac care. Nevertheless, it is now well understood that CHD is not cured but palliated, such that life-long expert care is required to optimize outcomes. All countries in the world that experience improved survival in CHD must face new challenges inherent to the emergence of a growing and aging CHD population with changing needs and medical and psychosocial issues. Founded in 1992, the International Society for Adult Congenital Heart Disease (ISACHD) is the leading global organization of professionals dedicated to pursuing excellence in the care of adults with CHD worldwide. Recognizing the unique and varied issues involved in caring for adults with CHD, ISACHD established a task force to assess the current status of care for adults with CHD across the globe, highlight major challenges and priorities, and provide future direction. The writing committee consisted of experts from North America, South America, Europe, South Asia, East Asia, and Oceania. The committee was divided into subgroups to review key aspects of adult CHD (ACHD) care. Regional representatives were tasked with investigating and reporting on relevant local issues as accurately as possible, within the constraints of available data. The resulting ISACHD position statement addresses changing patterns of worldwide epidemiology, models of care and organization of care, education and training, and the global research landscape in ACHD.

  20. Management of patients with pulmonary arterial hypertension due to congenital heart disease: recent advances and future directions.

    PubMed

    Blok, Ilja M; van Riel, Annelieke C M J; Mulder, Barbara J M; Bouma, Berto J

    2015-12-01

    Pulmonary arterial hypertension is a serious complication of adult congenital heart disease associated with systemic-to-pulmonary shunts. Although early shunt closure restricts development of pulmonary arterial hypertension, patients remain at risk even after repair. The development of pulmonary arterial hypertension is associated with a markedly increased morbidity and mortality. It is important to identify patients with a poor prognosis using disease specific markers. Echocardiography and biomarkers arise as practical tools to determine the risk of mortality. Although pulmonary arterial hypertension cannot be cured, four classes of disease-targeting therapies are currently available and several promising therapies are being studied. There is a shift in drug studies towards more clinically relevant endpoints such as time to clinical worsening and morbidity and mortality events.

  1. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  2. Expansion and Characterization of Neonatal Cardiac Pericytes Provides a Novel Cellular Option for Tissue Engineering in Congenital Heart Disease

    PubMed Central

    Avolio, Elisa; Rodriguez-Arabaolaza, Iker; Spencer, Helen L; Riu, Federica; Mangialardi, Giuseppe; Slater, Sadie C; Rowlinson, Jonathan; Alvino, Valeria V; Idowu, Oluwasomidotun O; Soyombo, Stephanie; Oikawa, Atsuhiko; Swim, Megan M; Kong, Cherrie H T; Cheng, Hongwei; Jia, Huidong; Ghorbel, Mohamed T; Hancox, Jules C; Orchard, Clive H; Angelini, Gianni; Emanueli, Costanza; Caputo, Massimo; Madeddu, Paolo

    2015-01-01

    Background Living grafts produced by combining autologous heart-resident stem/progenitor cells and tissue engineering could provide a new therapeutic option for definitive correction of congenital heart disease. The aim of the study was to investigate the antigenic profile, expansion/differentiation capacity, paracrine activity, and pro-angiogenic potential of cardiac pericytes and to assess their engrafting capacity in clinically certified prosthetic grafts. Methods and Results CD34pos cells, negative for the endothelial markers CD31 and CD146, were identified by immunohistochemistry in cardiac leftovers from infants and children undergoing palliative repair of congenital cardiac defects. Following isolation by immunomagnetic bead-sorting and culture on plastic in EGM-2 medium supplemented with growth factors and serum, CD34pos/CD31neg cells gave rise to a clonogenic, highly proliferative (>20 million at P5), spindle-shape cell population. The following populations were shown to expresses pericyte/mesenchymal and stemness markers. After exposure to differentiation media, the expanded cardiac pericytes acquired markers of vascular smooth muscle cells, but failed to differentiate into endothelial cells or cardiomyocytes. However, in Matrigel, cardiac pericytes form networks and enhance the network capacity of endothelial cells. Moreover, they produce collagen-1 and release chemo-attractants that stimulate the migration of c-Kitpos cardiac stem cells. Cardiac pericytes were then seeded onto clinically approved xenograft scaffolds and cultured in a bioreactor. After 3 weeks, fluorescent microscopy showed that cardiac pericytes had penetrated into and colonized the graft. Conclusions These findings open new avenues for cellular functionalization of prosthetic grafts to be applied in reconstructive surgery of congenital heart disease. PMID:26080813

  3. Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.

    PubMed Central

    Medeiros-Neto, G; Kim, P S; Yoo, S E; Vono, J; Targovnik, H M; Camargo, R; Hossain, S A; Arvan, P

    1996-01-01

    Recent advances in understanding the molecular pathogenesis of congenital hypothyroid goiter in cog/cog mice, have raised important questions concerning the maturation of thyroglobulin (the thyroid prohormone) in certain human kindreds with congenital goiter. We have now examined affected siblings from two unrelated families that synthesize an apparently normally glycosylated, > 300 kD immunoreactive thyroglobulin, yet have a reduced quantity of intraglandular thyroglobulin and that secreted into the circulation. From thyroid tissues of the four patients, light microscopic approaches demonstrated presence of intracellular thyroglobulin despite its absence in thyroid follicle lumina, while electron microscopy indicated abnormal distention of the endoplasmic reticulum (ER). We have confirmed biochemically that most intrathyroidal thyroglobulin fails to reach the (Golgi) compartment where complex carbohydrate modification takes place. Moreover, the disease in the affected patients is associated with massive induction of specific ER molecular chaperones including the hsp90 homolog, GRP94, and the hsp70 homolog, BiP. The data suggest that these patients synthesize a mutant thyroglobulin which is defective for folding/assembly, leading to a markedly reduced ability to export the protein from the ER. Thus, these kindreds suffer from a thyroid ER storage disease, a cell biological defect phenotypically indistinguishable from that found in cog/cog mice. PMID:8981932

  4. Data analysis of magnetocardiograms stored in the international database and their importance in diagnosing congenital heart disease

    NASA Astrophysics Data System (ADS)

    Grot, Przemyslaw; Dunajski, Zbigniew

    2003-10-01

    Fetal magnetocardiography - a modern method of measuring electroactivity of fetal's heart is gaining more popularity interest among scientists and doctor's. For the method to become a useful tool in diagnosing congenital heart disease there has been created an international database composed of data taken from various scientific centers in the world (e.g. Institute of Precision and Biomedical Engineering of Warsaw University of Technology). Cardiograms which are recorded during fMCG (fetal magnetocardiography) and fECG (fetal electrocardiography) examination can be used to classify if the fetal heart is developing in healthy or pathological way. Thus, it has been extremely vital to create the universal and univocal pattern of discrimination between healthy or pathological fetuses. In order to do this an international database with normal values of the parameters describing the cardiograms was needed. The database is a compilation of data measured at various centers using different but similar devices and different signal processing techniques. This work analyses helpfulness of the international database in establishing the universal pattern which in future could serve as the basis for the proper congenital heart disease diagnosis.

  5. U.S. international efforts on critical congenital heart disease screening: can we have a uniform recommendation for Europe?

    PubMed

    Hom, Lisa A; Martin, Gerard R

    2014-09-01

    An estimated 90% of births or more in the United States will be screened for critical congenital heart disease (CCHD) by the end of 2014. Europe has made less progress despite providing the population-based studies that were critical in driving support for efforts within the United States. Congenital Heart Disease (CHD) advocacy groups, investigators in screening for CCHD and international health organizations have been meeting with health care providers and government officials on a country by country basis. Countries that are implementing or have pilot projects have been identified to track global implementation. The Nordic countries, the United States, Switzerland and the United Arab Emirates are closest to universal screening for CCHD in newborns. Significant pilot projects tailored to unique care delivery systems screen through the use of midwives in the Netherlands, on maternity wards in the United Kingdom and while developing newborn care infrastructure in China. In Africa, South and Central America, individual countries are in the early stages of organization. Screening for CCHD is spreading across the globe. Early recognition has the ability to improve care in countries providing CHD treatment and prepare parents for adverse events in countries where care is not accessible. Impact of screening in regions with less access to intervention will be important to track.

  6. Incidence and management of life-threatening adverse events during cardiac catheterization for congenital heart disease.

    PubMed

    Lin, C Huie; Hegde, Sanjeet; Marshall, Audrey C; Porras, Diego; Gauvreau, Kimberlee; Balzer, David T; Beekman, Robert H; Torres, Alejandro; Vincent, Julie A; Moore, John W; Holzer, Ralf; Armsby, Laurie; Bergersen, Lisa

    2014-01-01

    Continued advancements in congenital cardiac catheterization and interventions have resulted in increased patient and procedural complexity. Anticipation of life-threatening events and required rescue measures is a critical component to preprocedural preparation. We sought to determine the incidence and nature of life-threatening adverse events in congenital and pediatric cardiac catheterization, risk factors, and resources necessary to anticipate and manage events. Data from 8905 cases performed at the 8 participating institutions of the Congenital Cardiac Catheterization Project on Outcomes were captured between 2007 and 2010 [median 1,095/site (range 133-3,802)]. The incidence of all life-threatening events was 2.1 % [95 % confidence interval (CI) 1.8-2.4 %], whereas mortality was 0.28 % (95 % CI 0.18-0.41 %). Fifty-seven life-threatening events required cardiopulmonary resuscitation, whereas 9 % required extracorporeal membrane oxygenation. Use of a risk adjustment model showed that age <1 year [odd ratio (OR) 1.9, 95 % CI 1.4-2.7, p < 0.001], hemodynamic vulnerability (OR 1.6, 95 % CI 1.1-2.3, p < 0.01), and procedure risk (category 3: OR 2.3, 95 % CI 1.3-4.1; category 4: OR 4.2, 95 % CI 2.4-7.4) were predictors of life-threatening events. Using this model, standardized life-threatening event ratios were calculated, thus showing that one institution had a life-threatening event rate greater than expected. Congenital cardiac catheterization and intervention can be performed safely with a low rate of life-threatening events and mortality; preprocedural evaluation of risk may optimize preparation of emergency rescue and bailout procedures. Risk predictors (age < 1, hemodynamic vulnerability, and procedure risk category) can enhance preprocedural patient risk stratification and planning.

  7. Databases for assessing the outcomes of the treatment of patients with congenital and paediatric cardiac disease--the perspective of cardiology.

    PubMed

    Jenkins, Kathy J; Beekman Iii, Robert H; Bergersen, Lisa J; Everett, Allen D; Forbes, Thomas J; Franklin, Rodney C G; Klitzner, Thomas S; Krogman, Otto N; Martin, Gerard R; Webb, Catherine L

    2008-12-01

    This review includes a brief discussion, from the perspective of the pediatric cardiologist, of the rationale for creation and maintenance of multi-institutional databases of outcomes of the treatment of patients with congenital and paediatric cardiac disease, together with a history of the evolution of such databases, and a description of the current state of the art. A number of projects designed to have broad-based impact are currently in the design phase, or have already been implemented. Not surprisingly, most of the efforts thus far have focused on catheterization procedures and interventions, although some work examining other aspects of paediatric cardiology practice is also beginning. This review briefly describes several European and North American initiatives related to databases for pediatric and congenital cardiology including the Central Cardiac Audit Database of the United Kingdom, national database initiatives for pediatric cardiology in Switzerland and Germany, various database initiatives under the leadership of the Working Groups of The Association for European Paediatric Cardiology, the IMPACT Registry (IMproving Pediatric and Adult Congenital Treatment) of the National Cardiovascular Data Registry of The American College of Cardiology Foundation and The Society for Cardiovascular Angiography and Interventions (SCAI), the Mid-Atlantic Group of Interventional Cardiology (MAGIC) Catheterization Outcomes Project, the Congenital Cardiac Catheterization Project on Outcomes (C3PO), the Congenital Cardiovascular Interventional Study Consortium (CCISC), and the Joint Council on Congenital Heart Disease (JCCHD) National Quality Improvement Initiative. These projects, each leveraging multicentre data and collaboration, demonstrate the enormous progress that has occurred over the last several years to improve the quality and consistency of information about nonsurgical treatment for congenital cardiac disease. The paediatric cardiology field is well

  8. Pattern of congenital heart disease in a developing country tertiary care center: Factors associated with delayed diagnosis

    PubMed Central

    Rashid, Usman; Qureshi, Ahmad U; Hyder, Syed N; Sadiq, Masood

    2016-01-01

    Objective: To determine the delay in diagnosis of various types of congenital heart defects in children and factors associated with such delay. Patients and Methods: For this observational study, 354 patients having congenital heart disease (CHD) presenting for the first time to the Department of Cardiology, Children’s Hospital, Lahore, Pakistan, between January 1, 2015 and June 30, 2015, were enrolled after obtaining informed verbal consent from the guardian of each child. Demographical profile and various factors under observation were recorded. Results: Among the 354 enrolled children (M: F 1.7:1) with age ranging from 1 to 176 months (median 24 months), 301 (85.1%) had delayed diagnosis of CHD (mainly acyanotic 65.3%), with median delay (8 months). Main factors for delay were delayed first consultation to a doctor (37.2%) and delayed diagnosis by a health professional (22.5%). Other factors included delayed referral to a tertiary care hospital (13.3%), social taboos (13.0%), and financial constraints (12.3%). Most children were delivered outside hospital settings (88.7%). Children with siblings less than two (40%) were less delayed than those having two or more siblings (60%, P < 0.001). Conclusion: Diagnosis of congenital heart defect was delayed in majority of patients. Multiple factors such as lack of adequately trained health system and socioeconomic constraints were responsible for the delay. There is a need to develop an efficient referral system and improve public awareness in developing countries for early diagnosis and management of such children. PMID:27625517

  9. Pattern of congenital heart disease in a developing country tertiary care center: Factors associated with delayed diagnosis

    PubMed Central

    Rashid, Usman; Qureshi, Ahmad U; Hyder, Syed N; Sadiq, Masood

    2016-01-01

    Objective: To determine the delay in diagnosis of various types of congenital heart defects in children and factors associated with such delay. Patients and Methods: For this observational study, 354 patients having congenital heart disease (CHD) presenting for the first time to the Department of Cardiology, Children’s Hospital, Lahore, Pakistan, between January 1, 2015 and June 30, 2015, were enrolled after obtaining informed verbal consent from the guardian of each child. Demographical profile and various factors under observation were recorded. Results: Among the 354 enrolled children (M: F 1.7:1) with age ranging from 1 to 176 months (median 24 months), 301 (85.1%) had delayed diagnosis of CHD (mainly acyanotic 65.3%), with median delay (8 months). Main factors for delay were delayed first consultation to a doctor (37.2%) and delayed diagnosis by a health professional (22.5%). Other factors included delayed referral to a tertiary care hospital (13.3%), social taboos (13.0%), and financial constraints (12.3%). Most children were delivered outside hospital settings (88.7%). Children with siblings less than two (40%) were less delayed than those having two or more siblings (60%, P < 0.001). Conclusion: Diagnosis of congenital heart defect was delayed in majority of patients. Multiple factors such as lack of adequately trained health system and socioeconomic constraints were responsible for the delay. There is a need to develop an efficient referral system and improve public awareness in developing countries for early diagnosis and management of such children.

  10. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  11. [Prevalence of congenital heart diseases in Koranic schools (daara) in Dakar: a cross-sectional study based on clinical and echocardiographic screening in 2019 school children].

    PubMed

    Bodian, M; Ngaïdé, A A; Mbaye, A; Sarr, S A; Jobe, M; Ndiaye, M B; Kane, A D; Aw, F; Gaye, N D; Ba, F G; Bah, M B; Tabane, A; Dioum, M; Diagne, D; Diao, M; Diack, B; Sarr, M; Kane, A; Bâ, S A

    2015-02-01

    Congenital heart diseases are one of the major cardiovascular diseases in developing countries. Most prevalence studies were based on clinical examination of children with echocardiographic confirmation of suspected cases and underestimate its prevalence. The objective of this study was to investigate the prevalence of congenital heart disease in "daara" (Koranic schools) in the city of Dakar and its suburbs on the basis of clinical examination and Doppler echocardiography in school children. This cross-sectional survey was carried out from 9(th) August to 24(th) December 2011, and included a population of 2019 school children aged 5 to 18 years in 16 selected "daaras" under the Academic Inspectorate of Dakar and its suburbs. Anamnestic, clinical and echocardiographic data were recorded in a validated questionnaire. A p < 0.05 was considered to be statistically significant in bivariate analysis. 2 019 school children were included out of which 60.1% were male (sex-ratio: 0.66). The average age was 9.7 years (± 3.3 years). 18 cases of congenital heart diseases were detected being a prevalence of 8.9 per 1 000 (95 % CI: 1.8 to 7.9). This included 6 cases of inter-atrial septal aneurysm, 5 cases of peri-membranous ventricular septal defects, 4 cases of patent ductusarteriosus and 3 cases of tetralogy of Fallot. Factors correlated with the presence of congenital heart disease were ageless than 8 (p <0.001) and residence in the suburbs of Dakar (p <0.001). We also detected 10 cases of rheumatic valvular disease, a prevalence of 4.9 per 1 000 (95% CI: 2.4 to 9.1). Our study shows a high prevalence of congenital heart diseases, which is almost identical to the WHO estimates and that ultrasound screening is more sensitive than clinical screening. Reducing the prevalence of these diseases requires implementation of appropriate policies, focusing on awareness and early detection.

  12. Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

    NASA Astrophysics Data System (ADS)

    Lin, Yuan; Ding, Chenyue; Zhang, Kai; Ni, Bixian; da, Min; Hu, Liang; Hu, Yuanli; Xu, Jing; Wang, Xiaowei; Chen, Yijiang; Mo, Xuming; Cui, Yugui; Shen, Hongbing; Sha, Jiahao; Liu, Jiayin; Hu, Zhibin

    2015-10-01

    OCT4 is a transcription factor of the POU family, which plays a key role in embryonic development and stem cell pluripotency. Previous studies have shown that Oct4 is required for cardiomyocyte differentiation in mice and its depletion could result in cardiac morphogenesis in embryo. However, whether the genetic variations in OCT4 coding gene, POU5F1, confer the predisposition to congenital heart disease (CHD) is unclear. This study sought to investigate the associations between low-frequency (defined here as having minor allele frequency (MAF) between 0.1%-5%) and rare (MAF below 0.1%) variants with potential function in POU5F1 and risk of CHD. We conducted association analysis in a two-stage case-control study with a total of 2,720 CHD cases and 3,331 controls in Chinese. The low-frequency variant rs3130933 was observed to be associated with a significantly increased risk of CHD [additive model: adjusted odds ratio (OR) = 2.15, adjusted P = 3.37 × 10-6]. Furthermore, luciferase activity assay showed that the variant A allele led to significantly lower expression levels as compared to the G allele. These findings indicate for the first time that low-frequency functional variant in POU5F1 may contribute to the risk of congenital heart malformations.

  13. Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese.

    PubMed

    Lin, Yuan; Ding, Chenyue; Zhang, Kai; Ni, Bixian; Da, Min; Hu, Liang; Hu, Yuanli; Xu, Jing; Wang, Xiaowei; Chen, Yijiang; Mo, Xuming; Cui, Yugui; Shen, Hongbing; Sha, Jiahao; Liu, Jiayin; Hu, Zhibin

    2015-10-28

    OCT4 is a transcription factor of the POU family, which plays a key role in embryonic development and stem cell pluripotency. Previous studies have shown that Oct4 is required for cardiomyocyte differentiation in mice and its depletion could result in cardiac morphogenesis in embryo. However, whether the genetic variations in OCT4 coding gene, POU5F1, confer the predisposition to congenital heart disease (CHD) is unclear. This study sought to investigate the associations between low-frequency (defined here as having minor allele frequency (MAF) between 0.1%-5%) and rare (MAF below 0.1%) variants with potential function in POU5F1 and risk of CHD. We conducted association analysis in a two-stage case-control study with a total of 2,720 CHD cases and 3,331 controls in Chinese. The low-frequency variant rs3130933 was observed to be associated with a significantly increased risk of CHD [additive model: adjusted odds ratio (OR) = 2.15, adjusted P = 3.37 × 10(-6)]. Furthermore, luciferase activity assay showed that the variant A allele led to significantly lower expression levels as compared to the G allele. These findings indicate for the first time that low-frequency functional variant in POU5F1 may contribute to the risk of congenital heart malformations.

  14. Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

    PubMed Central

    Lin, Yuan; Ding, Chenyue; Zhang, Kai; Ni, Bixian; Da, Min; Hu, Liang; Hu, Yuanli; Xu, Jing; Wang, Xiaowei; Chen, Yijiang; Mo, Xuming; Cui, Yugui; Shen, Hongbing; Sha, Jiahao; Liu, Jiayin; Hu, Zhibin

    2015-01-01

    OCT4 is a transcription factor of the POU family, which plays a key role in embryonic development and stem cell pluripotency. Previous studies have shown that Oct4 is required for cardiomyocyte differentiation in mice and its depletion could result in cardiac morphogenesis in embryo. However, whether the genetic variations in OCT4 coding gene, POU5F1, confer the predisposition to congenital heart disease (CHD) is unclear. This study sought to investigate the associations between low-frequency (defined here as having minor allele frequency (MAF) between 0.1%–5%) and rare (MAF below 0.1%) variants with potential function in POU5F1 and risk of CHD. We conducted association analysis in a two-stage case-control study with a total of 2,720 CHD cases and 3,331 controls in Chinese. The low-frequency variant rs3130933 was observed to be associated with a significantly increased risk of CHD [additive model: adjusted odds ratio (OR) = 2.15, adjusted P = 3.37 × 10−6]. Furthermore, luciferase activity assay showed that the variant A allele led to significantly lower expression levels as compared to the G allele. These findings indicate for the first time that low-frequency functional variant in POU5F1 may contribute to the risk of congenital heart malformations. PMID:26507003

  15. Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease.

    PubMed Central

    Gariepy, C E; Williams, S C; Richardson, J A; Hammer, R E; Yanagisawa, M

    1998-01-01

    The spotting lethal rat, a naturally occurring rodent model of Hirschsprung disease, carries a deletion in the endothelin-B receptor (EDNRB) gene that abrogates expression of functional EDNRB receptors. Rats homozygous for this mutation (sl) exhibit coat color spotting and congenital intestinal aganglionosis. These deficits result from failure of the neural crest-derived epidermal melanoblasts and enteric nervous system (ENS) precursors to completely colonize the skin and intestine, respectively. We demonstrate that during normal rat development, the EDNRB mRNA expression pattern is consistent with expression by ENS precursors throughout gut colonization. We used the human dopamine-beta-hydroxylase (DbetaH) promoter to direct transgenic expression of EDNRB to colonizing ENS precursors in the sl/sl rat. The DbetaH-EDNRB transgene compensates for deficient endogenous EDNRB in these rats and prevents the intestinal defect. The transgene has no effect on coat color spotting, indicating the critical time for EDNRB expression in enteric nervous system development begins after separation of the melanocyte lineage from the ENS lineage and their common precursor. The transgene dosage affects both the incidence and severity of the congenital intestinal defect, suggesting dosage-dependent events downstream of EDNRB activation in ENS development. PMID:9739043

  16. Anatomic and functional imaging of congenital heart disease with digital subtraction angiography

    SciTech Connect

    Buonocore, E.; Pavlicek, W.; Modic, M.T.; Meaney, T.F.; O'Donovan, P.B.; Grossman, L.B.; Moodie, D.S.; Yiannikas, J.

    1983-06-01

    Digital subtraction angiography (DSA) of the heart was performed in 54 patients for the evaluation of congenital heart diagnostic images and accurate physiologic shunt data that compared favorably with catheter angiography and nuclear medicine studies. Retrospective analysis of this series of patients indicated that DSA studies contributed sufficient informantion to shorten significantly or modify cardiac catheterization in 85% (79/93) of the defects that were identified. Interatrial septal defects were particularly well diagnosed, with identification occurring in 10 of 10 cases, wheseas intraventricular septal defects were identified in only 6 of 9 patients. Evaluation of postsurgical patients was accurate in 19 of 20 cases.

  17. Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

    PubMed Central

    Rodríguez, Maria Angels; Jou, Cristina; Puigdelloses, Montserrat; Ortez, Carlos I.; Diaz-Manera, Jordi; Gallardo, Eduardo; Colomer, Jaume; Nascimento, Andrés; Kalko, Susana G.; Jimenez-Mallebrera, Cecilia

    2015-01-01

    Background Collagen VI related myopathies encompass a range of phenotypes with involvement of skeletal muscle, skin and other connective tissues. They represent a severe and relatively common form of congenital disease for which there is no treatment. Collagen VI in skeletal muscle and skin is produced by fibroblasts. Aims & Methods In order to gain insight into the consequences of collagen VI mutations and identify key disease pathways we performed global gene expression analysis of dermal fibroblasts from patients with Ullrich Congenital Muscular Dystrophy with and without vitamin C treatment. The expression data were integrated using a range of systems biology tools. Results were validated by real-time PCR, western blotting and functional assays. Findings We found significant changes in the expression levels of almost 600 genes between collagen VI deficient and control fibroblasts. Highly regulated genes included extracellular matrix components and surface receptors, including integrins, indicating a shift in the interaction between the cell and its environment. This was accompanied by a significant increase in fibroblasts adhesion to laminin. The observed changes in gene expression profiling may be under the control of two miRNAs, miR-30c and miR-181a, which we found elevated in tissue and serum from patients and which could represent novel biomarkers for muscular dystrophy. Finally, the response to vitamin C of collagen VI mutated fibroblasts significantly differed from healthy fibroblasts. Vitamin C treatment was able to revert the expression of some key genes to levels found in control cells raising the possibility of a beneficial effect of vitamin C as a modulator of some of the pathological aspects of collagen VI related diseases. PMID:26670220

  18. The impact of congenital heart diseases on the quality of life of patients and their families in Saudi Arabia

    PubMed Central

    Azhar, Ahmad S.; AlShammasi, Zahra H.; Higgi, Rawan E.

    2016-01-01

    Objectives: To assess the impact of congenital heart diseases (CHDs) on bio-psychosocial aspects of the quality of life (QOL) of patients and their families. Methods: A cross-sectional study was carried out between May 2014 and August 2015, including children aged <16 years, and followed-up at King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia for CHD. A broad questionnaire was administered to investigate biological, psychological, and social dimensions of afflicted children, their parents, and siblings. Outcomes were computed as impact scores (0-100%) for each dimension and family member. Results: A total of 180 children (104 [57.8%] males; mean age ± standard deviation [SD] = 5.65 ± 4.8 years) were included. There were 25% children complaining of recurrent respiratory infections, 35% of frequent hospitalizations, 38.9% had milestone delay, and 12 (6.7%) only had a social security registration. Mothers declared difficulty coping with their children’s disease in 20% of cases and 22.2% reported being depressed. Mean ± SD impact scores in afflicted children were: 26.1 ± 26.2 (biological), 28.7 ± 28.8 (psychological), and (20.2 ± 25.7) social dimensions. Mothers’ impact scores were higher than fathers’. Complex CHDs had an additional impact, and children from families with less knowledge on CHD had relatively greater impact scores. Conclusion: Congenital heart diseases impact all aspects of QOL of patients and their families, and are associated with high comorbidity. Social and psychological support and education for patients and their parents are crucial factors for improving QOL. PMID:27052282

  19. MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers

    PubMed Central

    García-Fragoso, Lourdes; García-García, Inés; Leavitt, Gloria; Renta, Jessicca; Ayala, Miguel A.; Cadilla, Carmen L.

    2010-01-01

    Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their mothers. The DNA analysis for the C677T and A1298C mutations was performed. The study group included 27 mothers, 27 children with CHD, and 220 controls. The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes. The higher prevalence of C677T polymorphisms in mothers of children with CHD and of compound heterozygosity for both polymorphisms suggests the possible role of folic acid in the prevention of CHD. Due to the relation of this enzyme to folate metabolism, current folate recommendations for women in childbearing age in Puerto Rico to reduce neural tube defects may need to be extended to the prevention of CHD. PMID:20657745

  20. MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers.

    PubMed

    García-Fragoso, Lourdes; García-García, Inés; Leavitt, Gloria; Renta, Jessicca; Ayala, Miguel A; Cadilla, Carmen L

    2010-03-01

    Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their mothers. The DNA analysis for the C677T and A1298C mutations was performed. The study group included 27 mothers, 27 children with CHD, and 220 controls. The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes. The higher prevalence of C677T polymorphisms in mothers of children with CHD and of compound heterozygosity for both polymorphisms suggests the possible role of folic acid in the prevention of CHD. Due to the relation of this enzyme to folate metabolism, current folate recommendations for women in childbearing age in Puerto Rico to reduce neural tube defects may need to be extended to the prevention of CHD.

  1. The Effect of Educational Program on the Quality of Life and Self-Efficacy of the Mothers of the Infants with Congenital Heart Disease: A Randomized Controlled Trial

    PubMed Central

    Edraki, Mitra; Kamali, Mojgan; Beheshtipour, Noushin; Amoozgar, Hamid; Zare, Najaf; Montaseri, Sedigheh

    2014-01-01

    Background: Congenital heart disease causes large expenditures as well as mental pressures for the parents and, consequently, endangers the mothers’ quality of life and self efficacy. Thus, the present study aimed to determine the effect of educational program on the quality of life and self efficacy of the mothers of the infants with congenital heart disease. Methods: The present randomized controlled trial was conducted on 56 mothers who had children with congenital heart disease (28 in the control and 28 in the intervention group) in Imam Reza Clinic, Shiraz, Iran in 2012. The mothers’ quality of life and self-efficacy were assessed using SF-36 and Sherer’s general self efficacy questionnaires before, immediately and 2 months after the training. The training was performed through four 90-minute sessions in 4 weeks. The data were analyzed using the SPSS statistical software and independent t-test, chi-square, and repeated measure analysis of variance. Results: A significant differences was observed between the intervention and control groups regarding the mean of quality of life across the three study periods (F=59.91, P<0.0001). A significant difference was also found between the two groups concerning the mean of self efficacy at these times (F=114.11, P<0.0001). Conclusion: According to the results, providing appropriate training for the mothers of the infants with congenital heart disease increased their quality of life as well as self-efficacy. Trial Registration Number: IRCT2012080410489N1 PMID:25349845

  2. Elevated NCX1 and NCKX4 expression in the patent postnatal ductus arteriosus of ductal-dependent congenital heart disease patients.

    PubMed

    Hong, Haifa; Xia, Yu; Sun, Yanjun; Ye, Lincai; Liu, Jinfen; Bai, Jie; Zhang, Haibo

    2015-04-01

    Patency of the ductus arteriosus (DA) after birth is essential in ductal-dependent congenital heart disease. The Na(+)/Ca(2+) exchanger (NCX) has been demonstrated to play a key role in regulating vascular tone. The potassium-dependent Na(+)/Ca(2+) exchanger (NCKX) is a related family of NCX depending on the K(+) gradients which triggers DA constriction. The present study investigated the comparative expression of NCX and NCKX between a constricted DA and patent DA in human ductal-dependant congenital heart disease. Human DAs, which were patent (n = 10, age = 20.2 ± 4.3 days) or constricted (n = 10, age = 18.3 ± 3.9 days), were excised during surgery from neonates with ductal-dependent congenital heart disease. Western blotting analysis, real-time quantitative polymerase chain reaction analysis and immunofluorescence studies were performed to detect the protein and mRNA levels of NCX1, NCKX3, and NCKX4. The expressions of NCX1 and NCKX4 were significantly higher in the patent DA group at both the protein and mRNA levels, and expression was localized to the smooth muscle layer. These findings indicate that NCX1 and NCKX4 are up-regulated in human postnatal patent DAs and may represent potential therapeutic targets for maintaining DA patency in ductal-dependent congenital heart disease.

  3. Long-Term Intellectual Functioning and School-Related Behavioural Outcomes in Children and Adolescents after Invasive Treatment for Congenital Heart Disease

    ERIC Educational Resources Information Center

    Spijkerboer, A. W.; Utens, E. M. W. J.; Bogers, A. J. J. C.; Verhulst, F. C.; Helbing, W. A.

    2008-01-01

    In this study, long-term intellectual functioning and school-related behavioural outcomes were assessed in a patient sample that underwent invasive treatment for congenital heart disease (ConHD) between 1990 and 1995. The Wechsler Intelligence Scale for Children-Revised was used to measure intellectual functioning and the Teacher's Report Form to…

  4. The challenge of staphylococcal pacemaker endocarditis in a patient with transposition of the great arteries endocarditis in congenital heart disease

    SciTech Connect

    Ch'ng, Julie; Chan, William; Lee, Paul; Joshi, Subodh; Grigg, Leanne E.; Ajani, Andrew E

    2003-06-01

    Staphylococcus aureus is a leading cause of septicaemia and infective endocarditis. The overall incidence of staphylococcal bacteraemia is increasing, contributing to 16% of all hospital-acquired bacteraemias. The use of cardiac pacemakers has revolutionized the management of rhythm disturbances, yet this has also resulted in a group of patients at risk of pacemaker lead endocarditis and seeding in the range of 1% to 7%. We describe a 26-year-old man with transposition of the great arteries who had a pacemaker implanted and presented with S. aureus septicaemia 2 years postpacemaker implantation and went on to develop pacemaker lead endocarditis. This report illustrates the risk of endocarditis in the population with congenital heart disease and an intracardiac device.

  5. A retrospective comparison of dexmedetomidine versus midazolam for pediatric patients with congenital heart disease requiring postoperative sedation.

    PubMed

    Jiang, Li; Ding, Sheng; Yan, Hongtao; Li, Yunming; Zhang, Liping; Chen, Xue; Yin, Xiumei; Liu, Shunbi; Tang, Xiuying; Zhang, Jinbao

    2015-06-01

    We hypothesized that postoperative sedation with dexmedetomidine/fentanyl would be effective in infants and neonates with congenital heart disease and pulmonary arterial hypertension (PAH). Children who were <36 months of age, had congenital heart disease with PAH, and had been treated at our hospital between October 2011 and April 2013 (n = 187) were included in this retrospective study. Either dexmedetomidine/fentanyl (Group Dex) or midazolam/fentanyl (Group Mid) was used for postoperative sedation. The main outcome variables included delirium scores, supplemental sedative/analgesic drugs, ventilator use, and sedation time. Baseline demographics and clinical characteristics were similar between the two groups. The Pediatric Anesthesia Emergence Delirium scale (5.2 ± 5.3 vs. 7.1 ± 5.2 in the Dex and Mid groups, respectively; P = 0.016) and the incidence of delirium (18.2 vs. 32.0 % in the Dex and Mid groups, respectively; P = 0.039) were significantly lower in the Dex group than in the Mid group. Total sufentanil, midazolam, and propofol doses given during the operation did not differ between the two groups. Group Dex patients required significantly lower doses of adjunctive sedative/analgesic drugs than group Mid patients in the cardiac intensive care unit (CICU; midazolam, P = 0.007; morphine, P < 0.001). In conclusion, we found no differences between dexmedetomidine/fentanyl and midazolam/fentanyl in terms of the duration of sedation, mechanical ventilator use, and CICU stay in children with PAH. However, patients in the Dex group required a lower additional sedative/analgesic drugs and had a lower incidence of delirium than patients in the Mid group. PMID:25661272

  6. Is there a relationship between surgical case volume and mortality in congenital heart disease services? A rapid evidence review

    PubMed Central

    Preston, L; Turner, J; Booth, A; O'Keeffe, C; Campbell, F; Jesurasa, A; Cooper, K; Goyder, E

    2015-01-01

    Objective To identify and synthesise the evidence on the relationship between surgical volume and patient outcomes for adults and children with congenital heart disease. Design Evidence synthesis of interventional and observational studies. Data sources MEDLINE, EMBASE, CINAHL, Cochrane Library and Web of Science (2009–2014) and citation searching, reference lists and recommendations from stakeholders (2003–2014) were used to identify evidence. Study selection Quantitative observational and interventional studies with information on volume of surgical procedures and patient outcomes were included. Results 31 of the 34 papers identified (91.2%) included only paediatric patients. 25 (73.5%) investigated the relationship between volume and mortality, 7 (20.6%) mortality and other outcomes and 2 (5.9%) non-mortality outcomes only. 88.2% were from the US, 97% were multicentre studies and all were retrospective observational studies. 20 studies (58.8%) included all congenital heart disease conditions and 14 (41.2%) single conditions or procedures. No UK studies were identified. Most studies showed a relationship between volume and outcome but this relationship was not consistent. The relationship was stronger for single complex conditions or procedures. We found limited evidence about the impact of volume on non-mortality outcomes. A mixed picture emerged revealing a range of factors, in addition to volume, that influence outcome including condition severity, individual centre and surgeon effects and clinical advances over time. Conclusions The heterogeneity of findings from observational studies suggests that, while a relationship between volume and outcome exists, this is unlikely to be a simple, independent and directly causal relationship. The effect of volume on outcome relative to the effect of other, as yet undetermined, health system factors remains a complex and unresolved research question. PMID:26685029

  7. Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as a Model for Heart Development and Congenital Heart Disease.

    PubMed

    Doyle, Michelle J; Lohr, Jamie L; Chapman, Christopher S; Koyano-Nakagawa, Naoko; Garry, Mary G; Garry, Daniel J

    2015-10-01

    Congenital heart disease (CHD) remains a significant health problem, with a growing population of survivors with chronic disease. Despite intense efforts to understand the genetic basis of CHD in humans, the etiology of most CHD is unknown. Furthermore, new models of CHD are required to better understand the development of CHD and to explore novel therapies for this patient population. In this review, we highlight the role that human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes can serve to enhance our understanding of the development, pathophysiology and potential therapeutic targets for CHD. We highlight the use of hiPSC-derived cardiomyocytes to model gene regulatory interactions, cell-cell interactions and tissue interactions contributing to CHD. We further emphasize the importance of using hiPSC-derived cardiomyocytes as personalized research models. The use of hiPSCs presents an unprecedented opportunity to generate disease-specific cellular models, investigate the underlying molecular mechanisms of disease and uncover new therapeutic targets for CHD.

  8. Is congenital melanocytic naevus a link between Hirayama disease and moyamoya pattern: a new syndrome or a co-incidence?

    PubMed

    Puri, Inder; Vibha, Deepti; Prasad, Kameshwar; Bhatia, Rohit

    2016-01-08

    A 22-year-old man presented with a history of progressive weakness and wasting of the right hand and forearm for 12 months followed by similar symptoms in the left upper limb for the past 5 months. He also gave a history of episodes of loss of consciousness for the past 5 years with a frequency of one per 3 months. On examination, there were melanocytic naevi-one large lesion in the nape of the neck and multiple satellite lesions. On investigation, the cervical cord MRI was normal. The brain MRI and angiography showed a moyamoya pattern. Thus, this patient had congenital melanocytic naevi with Hirayama disease and moyamoya pattern. He was treated with extracranial-intracranial bypass for moyamoya disease. During 6-month follow-up, he has been stable. Although moyamoya syndrome has been associated with several systemic diseases and conditions, the coexistence of a moyamoya pattern with Hirayama disease and melanocytic naevi has not been described so far.

  9. Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as a Model for Heart Development and Congenital Heart Disease

    PubMed Central

    Doyle, Michelle J.; Lohr, Jamie L.; Chapman, Christopher S.; Nakagawa-Koyano, Naoko; Garry, Mary G.; Garry, Daniel J.

    2015-01-01

    Congenital heart disease (CHD) remains a significant health problem, with a growing population of survivors with chronic disease. Despite intense efforts to understand the genetic basis of CHD in humans, the etiology of most CHD is unknown. Furthermore, new models of CHD are required to better understand the development of CHD and to explore novel therapies for this patient population. In this review, we highlight the role that human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes can serve to enhance our understanding of the development, pathophysiology and potential therapeutic targets in CHD. We highlight the use of hiPSC-derived cardiomyocytes to model gene regulatory interactions, cell-cell interactions and tissue interactions contributing to CHD. We further emphasize the importance of using hiPSC-derived cardiomyocytes as personalized research models. The use of hiPSCs presents an unprecedented opportunity to generate disease-specific cellular models, investigate the underlying molecular mechanisms of disease and uncover new therapeutic targets for CHD. PMID:26085192

  10. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  11. Cytomegalovirus Genotype Distribution Among Congenitally and Postnatally Infected Patients: Association of Particular Glycoprotein (g)B and gN Types With Symptomatic Disease

    PubMed Central

    Brañas, Patricia; Blázquez-Gamero, Daniel; Galindo, Alberto; Prieto, Columbiana; Olabarrieta, Iciar; Cuadrado, Irene; Folgueira, Lola

    2015-01-01

    Background. Human cytomegalovirus is a leading cause of congenital infection, and there are limited data on prognosis markers in disease development. We aimed to study 3 virology targets (glycoprotein [g]B, gN, and UL144) to assess their correlation with congenital infection and various organ system involvement. Methods. Forty-eight congenital cases and 58 postnatally infected children were included (2003–2014). Genotyping for the 3 targets and distribution among the cohorts were investigated, and the relationship between the gB, gN, and UL144 types with clinical manifestations in congenital infection was also studied. Results. All of the genotypes were similarly represented among cohorts, and the most prevalent were the UL144B, gB1, and gN1 genotypes. The gB2 genotype was associated with abnormal image findings by ultrasound and/or magnetic resonance in congenital infection (odds ratio [OR], 6.2; 95% confidence interval [CI], 1.1–34.3; P = .036); the gN1 genotype was associated with an elevated risk of developing neurological disorders (OR, 7.0; 95% CI, 1.1–45.9; P = .043). Both gN1 and gB2 were independent factors for symptomatic infection. Statistical analyses showed no association between any UL144 genotype and disease severity. Conclusions. All of the genotypes can be involved in congenital infection, although the gB2 and gN1 genotypes might be associated with a more serious illness. PMID:26613094

  12. Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country

    PubMed Central

    Ang, Hak-Lee; Omar, Asma

    2015-01-01

    Background Studies on pulse oximetry screening for neonatal sepsis and respiratory disease in a middle-income country are lacking. Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is an effective and life-saving strategy in developed countries. While most studies have reported false-positive results during CCHD screening, they have not elaborated on the detected disease types. We studied the effectiveness and outcomes of pulse oximetry newborn screening for non-cardiac hypoxemic diseases such as neonatal sepsis, respiratory diseases, and CCHD in a middle-income country. Methods and Findings In a pilot study performed at the University Malaya Medical Centre (UMMC), Malaysia, all apparently healthy term newborns, delivered at UMMC were screened pre-discharge using pulse oximetry. Echocardiography was performed for newborns that had positive screening results on two separate occasions, 1-h apart. Newborns with normal echocardiograms were evaluated and treated for other non-cardiac diseases. Fifteen of 5247 term newborns had positive screening results. The median age at screening was 20 h. Thirteen newborns (0.24%) had significant non-cardiac diseases: sepsis (n = 2) and respiratory diseases (n = 11) that required hospitalization and treatment. The remaining two newborns with normal antenatal ultrasonograms had positive screening test and confirmed to have CCHD. Another 18 newborns with negative screening test were later admitted for treatment of sepsis (n = 16) and penumonia (n = 2). All newborns were treated and alive at the end of the study. The sensitivity and specificity of pulse oximetry screening for non-cardiac diseases were 42% and 99.9% respectively, and 100% and 99.7% for CCHD, respectively. Conclusions Routine pulse oximetry screening test was effective in identifying newborns with CCHD and other hypoxemia illnesses, which may led to potential life-threatening condition. This study showed that the expanded use of pulse

  13. Nomenclature and databases for the surgical treatment of congenital cardiac disease--an updated primer and an analysis of opportunities for improvement.

    PubMed

    Jacobs, Jeffrey Phillip; Jacobs, Marshall Lewis; Mavroudis, Constantine; Backer, Carl Lewis; Lacour-Gayet, Francois G; Tchervenkov, Christo I; Franklin, Rodney C G; Béland, Marie J; Jenkins, Kathy J; Walters, Hal; Bacha, Emile A; Maruszewski, Bohdan; Kurosawa, Hiromi; Clarke, David Robinson; Gaynor, J William; Spray, Thomas L; Stellin, Giovanni; Ebels, Tjark; Krogmann, Otto N; Aiello, Vera D; Colan, Steven D; Weinberg, Paul; Giroud, Jorge M; Everett, Allen; Wernovsky, Gil; Elliott, Martin J; Edwards, Fred H

    2008-12-01

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for the analysis of outcomes of treatments for patients with congenitally malformed hearts. We will consider the current state of analysis of outcomes, lay out some principles which might make it possible to achieve life-long monitoring and follow-up using our databases, and describe the next steps those involved in the care of these patients need to take in order to achieve these objectives. In order to perform meaningful multi-institutional analyses, we suggest that any database must incorporate the following six essential elements: use of a common language and nomenclature, use of an established uniform core dataset for collection of information, incorporation of a mechanism of evaluating case complexity, availability of a mechanism to assure and verify the completeness and accuracy of the data collected, collaboration between medical and surgical subspecialties, and standardised protocols for life-long follow-up. During the 1990s, both The European Association for Cardio-Thoracic Surgery and The Society of Thoracic Surgeons created databases to assess the outcomes of congenital cardiac surgery. Beginning in 1998, these two organizations collaborated to create the International Congenital Heart Surgery Nomenclature and Database Project. By 2000, a common nomenclature, along with a common core minimal dataset, were adopted by The European Association for Cardio-Thoracic Surgery and The Society of Thoracic Surgeons, and published in the Annals of Thoracic Surgery. In 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. This committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease. The working component of this international nomenclature society has been The International Working Group for Mapping and Coding

  14. Congenital lobar emphysema

    PubMed Central

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  15. A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients.

    PubMed

    Costello, John P; Weiderhold, Allison; Louis, Clauden; Shaughnessy, Conner; Peer, Syed M; Zurakowski, David; Jonas, Richard A; Nath, Dilip S

    2015-06-01

    The objective of this study was to examine a large institutional experience of patients with trisomy 13 and trisomy 18 in the setting of comorbid congenital heart disease and present the outcomes of surgical versus expectant management. It is a retrospective single-institution cohort study. Institutional review board approved this study. Thirteen consecutive trisomy 18 patients and three consecutive trisomy 13 patients (sixteen patients in total) with comorbid congenital heart disease who were evaluated by our institution's Division of Cardiovascular Surgery between January 2008 and December 2013 were included in the study. The primary outcome measures evaluated were operative mortality (for patients who received surgical management), overall mortality (for patients who received expectant management), and total length of survival during follow-up. Of the thirteen trisomy 18 patients, seven underwent surgical management and six received expectant management. With surgical management, operative mortality was 29 %, and 80 % of patients were alive after a median follow-up of 116 days. With expectant management, 50 % of patients died before hospital discharge. Of the three patients with trisomy 13, one patient underwent surgical management and two received expectant management. The patient who received surgical management with complete repair was alive at last follow-up over 2 years after surgery; both patients managed expectantly died before hospital discharge. Trisomy 13 and trisomy 18 patients with comorbid congenital heart disease can undergo successful cardiac surgical intervention. In this population, we advocate that nearly all patients with cardiovascular indications for operative congenital heart disease intervention should be offered complete surgical repair over palliative approaches for moderately complex congenital cardiac anomalies.

  16. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  17. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed. PMID:27607320

  18. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy.

  19. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy. PMID:25037085

  20. [Congenital heart disease in adults: residua, sequelae, and complications of cardiac defects repaired at an early age].

    PubMed

    Oliver Ruiz, José María

    2003-01-01

    Nowadays, it is estimated that 85% of the infants born with congenital heart disease (CHD) will survive to adulthood, thanks mainly to surgical or therapeutic procedures performed during infancy or childhood. The clinical profile and disease pattern of adults with CHD is changing. The prevalence of certain adult CHDs, such as tetralogy of Fallot, transposition of the great arteries or univentricular heart, is rising, but these conditions have practically become new diseases as a result of therapy. Most surviving patients present residua, sequelae, or complications, which can progress during adult life. These disorders can present electrophysiological disturbances, valvular disease, persistent shunts, myocardial dysfunction, pulmonary or systemic vascular disease, problems caused by prosthetic materials, infectious complications, thromboembolic events, or extravascular disorders involving multiple organs or systems. In tetralogy of Fallot, the most striking problems that affect long-term prognosis are pulmonary valve regurgitation, right ventricle dysfunction, and atrial or ventricular arrhythmias. The main problems appearing after physiological atrial repair of transposition of the great arteries are related to right ventricular function, since it is structurally unprepared for systemic circulation, and atrial arrhythmias. Surgical repair of univentricular heart using Fontan techniques should be considered a palliative procedure that does not modify the underlying structural disorder and exposes the postoperative patient to severe complications and problems. The increase in the number of patients with CHD who will reach adulthood in the coming decades makes it necessary to carefully consider the new healthcare demands that are being generated, who should be responsible for them, and how and where solutions can be found.

  1. [MORPHO-FUNCTIONAL CHANGES OF THYMUS TISSUES IN CHILDREN WITH CONGENITAL HEART DISEASE].

    PubMed

    Loginova, N P; Chetvertnykh, V A; Chemurziyeva, N V

    2016-01-01

    Biopsy specimens of the thymus were studied in children aged under 11 months (n = 77) with congenital heart defects and circulatory hypoxia of varying severity. Histological sections were stained with hematoxylin-eosin and Shubich's method (to demonstrate mast cells). The expression of Ki-67, CD3 and CD34 was assessed by immunohistochemistry. The ultrastructure of thymic tissues was also examined. It was found that the severity of hypoxia determined the morphological changes in the organ associated with a development of large complex of tissue reactions. A disruption of internal structure and a loss of integrity of epithelio-reticular cells and thymocytes were demonstrated in ultrathin sections. Thymocyte proliferation index (Ki-67) and thymocytopoiesis intensity (CD3+) were reduced in all the zones of the thymus. The degree of hypoxia affected the redistribution of CD3+ lymphocytes leading to their accumulation in the medulla. The processes of endogenous regeneration took place which involved the cells of fibroblastic line and progenitor cells (CD34+) together with active formation of new blood vessels. These findings suggest that the morphological changes identified in the tissues of the thymus are a manifestation of tissue adaptation to hypoxia of varying severity under conditions of endogenous regeneration, simultaneously reflecting the processes of substitution cytogenesis. PMID:27487665

  2. An evaluation of a specialist nursing service for adult patients with congenital heart disease.

    PubMed

    Hatchett, Richard; McLaren, Susan; Corrigan, Philomena; Filer, Lynda

    2015-10-01

    The purpose of this study was to evaluate grown-up congenital heart (GUCH) patients' experiences and satisfaction with the delivery of a nurse specialist service, including perceived priorities and recommendations for future service delivery. A service evaluation utilizing descriptive, cross-sectional survey principles was conducted over a 2 year period. Postal questionnaires were sent to three patient cohorts (general adult n = 747; pregnancy n = 202; learning disability n = 72). Quantitative data were analysed using descriptive statistics. The majority of respondents were satisfied with the nursing care provided, including information provision, time made available to discuss needs, emotional support, well-being, self-management and symptom distress. Priority areas included timely information and advice; specialist knowledge and expertise; effective care coordination, monitoring and support. Accessibility, contact and responsiveness were dominant. A majority of patients agreed that their first, second and third-rated priorities had been met. Findings identified strong commitment, support and satisfaction with the GUCH nurse specialist service. PMID:25307531

  3. [MORPHO-FUNCTIONAL CHANGES OF THYMUS TISSUES IN CHILDREN WITH CONGENITAL HEART DISEASE].

    PubMed

    Loginova, N P; Chetvertnykh, V A; Chemurziyeva, N V

    2016-01-01

    Biopsy specimens of the thymus were studied in children aged under 11 months (n = 77) with congenital heart defects and circulatory hypoxia of varying severity. Histological sections were stained with hematoxylin-eosin and Shubich's method (to demonstrate mast cells). The expression of Ki-67, CD3 and CD34 was assessed by immunohistochemistry. The ultrastructure of thymic tissues was also examined. It was found that the severity of hypoxia determined the morphological changes in the organ associated with a development of large complex of tissue reactions. A disruption of internal structure and a loss of integrity of epithelio-reticular cells and thymocytes were demonstrated in ultrathin sections. Thymocyte proliferation index (Ki-67) and thymocytopoiesis intensity (CD3+) were reduced in all the zones of the thymus. The degree of hypoxia affected the redistribution of CD3+ lymphocytes leading to their accumulation in the medulla. The processes of endogenous regeneration took place which involved the cells of fibroblastic line and progenitor cells (CD34+) together with active formation of new blood vessels. These findings suggest that the morphological changes identified in the tissues of the thymus are a manifestation of tissue adaptation to hypoxia of varying severity under conditions of endogenous regeneration, simultaneously reflecting the processes of substitution cytogenesis.

  4. Bringing Antonovsky's salutogenic theory to life: A qualitative inquiry into the experiences of young people with congenital heart disease

    PubMed Central

    Apers, Silke; Rassart, Jessica; Luyckx, Koen; Oris, Leen; Goossens, Eva; Budts, Werner; Moons, Philip

    2016-01-01

    Objective Antonovsky coined sense of coherence (SOC) as the central concept of his salutogenic theory focusing on the origins of well-being. SOC captures the degree to which one perceives the world as comprehensible, manageable, and meaningful. Life events and resources are considered to be the building blocks of a person's SOC. However, mainly quantitative studies have looked into the role of life events and resources. Therefore, the present study aims to gain a deeper insight into the experiences of patients with congenital heart disease (CHD) regarding resources and life events. Method For this qualitative study, patients were selected from the sample of a preceding study on development of SOC (n = 429). In total, 12 young individuals with CHD who had either a weak (n = 6) or strong SOC (n = 6) over time were interviewed (8 women, median age of 20 years). Data analysis was based on the constant comparative method as detailed in the Qualitative Analysis Guide of Leuven. Commonalities and differences between patients from both groups were explored. Results The following themes emerged: (1) self-concept; (2) social environment; (3) daytime activities; (4) life events and disease-related turning points; (5) stress and coping; and (6) illness integration. Additionally, the degree of personal control was identified as an overarching topic that transcended the other themes when comparing both groups of patients. Conclusion These results may have implications for the structure and content of interventions improving well-being in young people with CHD. PMID:26942908

  5. Altered lymphatics in an ovine model of congenital heart disease with increased pulmonary blood flow.

    PubMed

    Datar, Sanjeev A; Johnson, Eric G; Oishi, Peter E; Johengen, Michael; Tang, Eric; Aramburo, Angela; Barton, Jubilee; Kuo, Hsuan-Chang; Bennett, Stephen; Xoinis, Konstantine; Reel, Bhupinder; Kalkan, Gokhan; Sajti, Eniko; Osorio, Oscar; Raff, Gary W; Matthay, Michael A; Fineman, Jeffrey R

    2012-03-15

    Abnormalities of the lymphatic circulation are well recognized in patients with congenital heart defects. However, it is not known how the associated abnormal blood flow patterns, such as increased pulmonary blood flow (PBF), might affect pulmonary lymphatic function and structure. Using well-established ovine models of acute and chronic increases in PBF, we cannulated the efferent lymphatic duct of the caudal mediastinal node and collected and analyzed lymph effluent from the lungs of lambs with acutely increased PBF (n = 6), chronically increased PBF (n = 6), and age-matched normal lambs (n = 8). When normalized to PBF, we found that lymph flow was unchanged following acute increases in PBF but decreased following chronic increases in PBF. The lymph:plasma protein ratio decreased with both acute and chronic increases in PBF. Lymph bioavailable nitric oxide increased following acute increases in PBF but decreased following chronic increases in PBF. In addition, we found perturbations in the transit kinetics of contrast material through the pleural lymphatics of lambs with chronic increases in PBF. Finally, there were structural changes in the pulmonary lymphatic system in lambs with chronic increases in PBF: lymphatics from these lambs were larger and more dilated, and there were alterations in the expression of vascular endothelial growth factor-C, lymphatic vessel endothelial hyaluronan receptor-1, and Angiopoietin-2, proteins known to be important for lymphatic growth, development, and remodeling. Taken together these data suggest that chronic increases in PBF lead to both functional and structural aberrations of lung lymphatics. These findings have important therapeutic implications that warrant further study.

  6. Evaluation of fetal echocardiography as a routine antenatal screening tool for detection of congenital heart disease

    PubMed Central

    Nayak, Krishnananda; Shetty, Ranjan; Narayan, Pratap Kumar

    2016-01-01

    Background Fetal echocardiography plays a pivotal role in identifying the congenital heart defects (CHDs) in utero. Though foetal echocardiography is mostly reserved for high risk pregnant women, its role as a routine prenatal screening tool still needs to be defined. Performing foetal echocardiography based on only these indications can lead to a significant numbers of CHD cases going undetected who will be deprived of further management leading to increased early neonatal mortalities. The aim of this study is to assess the incidence of CHDs by fetal echocardiography in an unselected population of pregnant women in comparison with pregnant women with conventional high risk factors for CHD. Methods This study enrolled consecutive pregnant women who attended antenatal clinic between 2008 and 2012 in a tertiary care hospital. These pregnant women were categorized into two groups: high risk group included pregnant women with traditional risk factors for CHD as laid down by Pediatric Council of the American Society of Echocardiography and low risk group. Detailed fetal 2 D echocardiography was done. Results A total of 1,280 pregnant women were included in study. The 118 women were categorized as the high risk group while remaining 1,162 were included in the low risk group. Twenty six cases of CHDs were detected based on abnormal foetal echocardiography (20.3 per 1,000). Two of the 26 cases of CHD occurred in high risk group whereas the remaining 24 occurred in low risk pregnancy. The difference in the incidence of CHDs between the two groups was not significant statistically (P=0.76). Conclusions Our study shows no difference in incidence of CHDs between pregnancies associated with high risk factors compared to low risk pregnancies. So we advocate foetal echocardiography should be included as a part of routine antenatal screening and all pregnant women irrespective of risk factors for CHDs. PMID:26885491

  7. Prevalence and determinants of anemia in adults with complex congenital heart disease and ventricular dysfunction (subaortic right ventricle and single ventricle physiology).

    PubMed

    Collins, Nicholas; Piran, Sanaz; Harrison, Jeanine; Azevedo, Eduardo; Oechslin, Erwin; Silversides, Candice K

    2008-09-01

    Anemia is well recognized as a marker of poor prognosis in patients with acquired heart disease and heart failure. Adults with complex congenital heart disease and ventricular dysfunction (subaortic right ventricle or single-ventricle physiology) represent a different population, because they are typically much younger and have less co-morbidity compared with patients with acquired forms of heart disease. The purpose of this study was to evaluate the prevalence and determinants of anemia in this population. Baseline hemoglobin levels were recorded at the time of the initial clinic visit, and final hemoglobin levels were those recorded before death or transplantation or at study completion. Anemia was defined as hemoglobin <135 g/L in men and <120 g/L in women. One hundred sixty-seven patients (100 men, mean age 34 +/- 8 years, mean ejection fraction 35 +/- 9%) were included, 66 with atrial switch operations, 42 with congenitally corrected transposition of the great arteries, and 59 with Fontan physiology. The mean hemoglobin level at baseline was 149 +/- 22 g/L and at follow-up was 139 +/- 29 g/L. The overall prevalence of anemia was 29% at completion. Hyponatremia, decreased renal function, and the use of warfarin were independent predictors of anemia. In conclusion, anemia is common in patients with complex congenital heart disease and ventricular dysfunction, in particular those with Fontan physiology.

  8. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.

    PubMed

    Bui, Peter H; Dorrani, Naghmeh; Wong, Derek; Perens, Gregory; Dipple, Katrina M; Quintero-Rivera, Fabiola

    2013-07-01

    Deletions of the long arm of chromosome 18 have been previously reported in many patients. Most cases involve the more distal regions of the long arm (18q21.1->qter). However, proximal interstitial deletions involving 18q11.2 are extremely rare. Here we report on a 14-month-old female with a 4.7 Mb (19,667,062-24,401,876 hg19) de novo interstitial deletion within chromosomal band 18q11.2, which includes GATA6 and 24 other RefSeq genes. The clinical features of our patient include complex congenital heart defects, a double outlet right ventricle, a subaortic ventricular septal defect, D-malposed great arteries, an atrial septal defect, a dysplastic aortic valve and patent ductus arteriosus. In addition, she had renal anomalies-a duplicated collecting system on the left and mild right hydronephrosis. These heart and renal defects are not reported in other patients with 18q proximal interstitial deletions. Heterozygous point mutations in GATA6, encoding for a zinc finger transcription factor, have been shown to cause congenital heart defects. Given the well-established biological role of GATA6 in cardiac development, a deletion of GATA6 is very likely responsible for our patient's complex congenital heart defects. This is the smallest and most proximal 18q11.2 deletion involving GATA6 that is associated with complex congenital heart disease and renal anomalies.

  9. Effect of Folic Acid Food Fortification in Canada on Congenital Heart Disease Subtypes

    PubMed Central

    Joseph, K.S.; Luo, Wei; León, Juan Andrés; Lisonkova, Sarka; Van den Hof, Michiel; Evans, Jane; Lim, Ken; Little, Julian; Sauve, Reg; Kramer, Michael S.

    2016-01-01

    Background: Previous studies have yielded inconsistent results for the effects of periconceptional multivitamins containing folic acid and of folic acid food fortification on congenital heart defects (CHDs). Methods: We carried out a population-based cohort study (N=5 901 701) of all live births and stillbirths (including late-pregnancy terminations) delivered at ≥20 weeks’ gestation in Canada (except Québec and Manitoba) from 1990 to 2011. CHD cases were diagnosed at birth and in infancy (n=72 591). We compared prevalence rates and temporal trends in CHD subtypes before and after 1998 (the year that fortification was mandated). An ecological study based on 22 calendar years, 14 geographic areas, and Poisson regression analysis was used to quantify the effect of folic acid food fortification on nonchromosomal CHD subtypes (n=66 980) after controlling for changes in maternal age, prepregnancy diabetes mellitus, preterm preeclampsia, multiple birth, and termination of pregnancy. Results: The overall birth prevalence rate of CHDs was 12.3 per 1000 total births. Rates of most CHD subtypes decreased between 1990 and 2011 except for atrial septal defects, which increased significantly. Folic acid food fortification was associated with lower rates of conotruncal defects (adjusted rate ratio [aRR], 0.73, 95% confidence interval [CI], 0.62–0.85), coarctation of the aorta (aRR, 0.77; 95% CI, 0.61–0.96), ventricular septal defects (aRR, 0.85; 95% CI, 0.75–0.96), and atrial septal defects (aRR, 0.82; 95% CI, 0.69–0.95) but not severe nonconotruncal heart defects (aRR, 0.81; 95% CI, 0.65–1.03) and other heart or circulatory system abnormalities (aRR, 0.98; 95% CI, 0.89–1.11). ConclusionS: The association between food fortification with folic acid and a reduction in the birth prevalence of specific CHDs provides modest evidence for additional benefit from this intervention. PMID:27572879

  10. Experiences and Outcomes of Transition from Pediatric to Adult Health Care Services for Young People with Congenital Heart Disease: A Systematic Review.

    PubMed

    Heery, Emily; Sheehan, Aisling M; While, Alison E; Coyne, Imelda

    2015-01-01

    This review synthesizes the empirical literature on outcomes and experiences of transfer and transition from pediatric to adult care for young people with congenital heart disease. A systematic review of papers published between January 2001 and May 2013 that examined outcomes or experiences of transfer and transition among young people with congenital heart disease was conducted. Data were extracted by two independent reviewers with the outcomes data combined using narrative synthesis and the experiences data integrated using thematic synthesis. Thirteen papers were included in the review: six reported outcomes following transfer, six reported experiences of transfer and transition, and one reported both outcomes and experiences. The review data indicate that high proportions of young people were lost to follow-up or experienced long gaps in care after leaving pediatric cardiology. Factors that protected against loss to follow-up or lapse in care included: beliefs that specialized adult care was necessary; poorer health status; attendance at pediatric appointments without parents; and pediatric referral to an adult congenital heart disease center. Data on experiences highlighted that many young people were unconcerned about transition, but lacked knowledge about their condition and were insufficiently prepared for transfer. In terms of adult services, many young people desired continuity in the quality of care, youth-oriented facilities, a personalized approach, and for their parents to remain involved in their care, but in a secondary, supportive capacity. In conclusion, the high proportions of young people lost to follow-up highlight the need for formal transition programs, which ensure a planned and coordinated transfer. Patients with congenital heart disease need education throughout adolescence about the implications of their condition, the differences between pediatric and adult services, and self-care management.

  11. Reference Intervals of Thromboelastometric Evaluation of Coagulation in Pediatric Patients with Congenital Heart Diseases: A Retrospective Investigation

    PubMed Central

    Kim, Ji Young; Shin, Yu Rim; Kil, Hae Keum; Park, Mi Ran; Lee, Jong Wha

    2016-01-01

    Background Rotational thromboelastometry (ROTEM®) is a point-of-care test for coagulation, enabling physicians to make a swift decision. The aim of this investigation was to establish reference intervals of thromboelastometric evaluation for coagulation in pediatric patients with congenital heart diseases (CHD). Material/Methods As baseline data, 3 assays of ROTEM® (INTEM, EXTEM, and FIBTEM) were measured after anesthesia induction. ROTEM® parameters were clotting time (CT), amplitude at 10 min (A10), clot formation time (CFT), α angle, maximal clot firmness (MCF), clot lysis index at 60 min (LI60), and maximal clot elasticity (MCE). As age is a well-known factor for maturation, age groups were determined as follows; 1) <1 month, 2) 1–3 months, 3) 4–12 months, 4) 1–3 years, 5) 4–6 years, 6) 7–12 years, and 7) 13–16 years. Reference limits representing 95% of distribution of ROTEM® parameters and 90% confidence intervals of upper and lower reference limits were calculated. Results The data of 413 patients were analyzed. Although INTEM CT was prolonged, significantly shorter CT and CFT, steeper α, and greater A10, MCF, and MCE were shown in patients age <3 months compared to older children. Conclusions Reference intervals of thromboelastometric evaluation for coagulation from pediatric patients with CHD were shown to have similar pattern to those obtained from healthy pediatric patients. Pediatric patients with CHD, even with cyanosis, were demonstrated to have functionally intact coagulation profile before surgery. PMID:27711024

  12. Predictors of High Serum Casein Antibody Levels among Malnourished Infants and Young Children with Congenital Heart Disease

    PubMed Central

    El-Alameey, Inas R.; Ahmed, Hanaa H.; Monir, Zeinab M.; Rabah, Thanaa M.; Gawad, Ayman M. Abdel

    2015-01-01

    BACKGROUND: Factors predictive of growth retardation and malnutrition in patients with congenital heart disease remain unclear. OBJECTIVES: This study aimed to measure antibody response to bovine casein through assessing serum casein antibody levels in malnourished patients three year or younger with CHD, and to determine its relationship to gastrointestinal symptoms, anthropometric measures, and laboratory data. SUBJECTS AND METHODS: This cross sectional case control study was conducted in sixty patients with CHD aged 4 to 72 months. They were subdivided into thirty patients with cyanotic and thirty patients with acyanotic CHD compared with thirty apparently healthy children. RESULTS: On comparison with controls, patients showed highly significant lower anthropometric measures, calcium, iron, hemoglobin levels, and higher serum levels of casein antibody, total iron binding capacity, and alkaline phoshatase activity (P<0.000). Serum levels of casein antibody showed significantly positive correlations with serum total iron binding capacity and alkaline phosphatase activities and negatively correlated with the age at onset of symptoms, anthropometric measures, serum calcium, and iron levels. CONCLUSION: Serum casein antibody levels play a significant role in the pathogenesis of malnutrition. Encouragement of breast feeding and avoidance of early cow’s milk consumption could prevent the development of antibody response to bovine casein. PMID:27275203

  13. Cardiac imaging of congenital heart diseases during interventional procedures continues to evolve: Pros and cons of the main techniques.

    PubMed

    Hascoët, Sebastien; Warin-Fresse, Karine; Baruteau, Alban-Elouen; Hadeed, Khaled; Karsenty, Clement; Petit, Jérôme; Guérin, Patrice; Fraisse, Alain; Acar, Philippe

    2016-02-01

    Cardiac catheterization has contributed to the progress made in the management of patients with congenital heart disease (CHD). First, it allowed clarification of the diagnostic assessment of CHD, by offering a better understanding of normal cardiac physiology and the pathophysiology and anatomy of complex malformations. Then, it became an alternative to surgery and a major component of the therapeutic approach for some CHD lesions. Nowadays, techniques have evolved and cardiac catheterization is widely used to percutaneously close intracardiac shunts, to relieve obstructive valvar or vessel lesions, and for transcatheter valve replacement. Accurate imaging is mandatory to guide these procedures. Cardiac imaging during catheterization of CHD must provide accurate images of lesions, surrounding cardiac structures, medical devices and tools used to deliver them. Cardiac imaging has to be 'real-time' with an excellent temporal resolution to ensure 'eyes-hands' synchronization and 'device-target area' accurate positioning. In this comprehensive review, we provide an overview of conventional cardiac imaging tools used in the catheterization laboratory in daily practice, as well as the effect of recent evolution and future imaging modalities. PMID:26858142

  14. Right ventricular nitric oxide signaling in an ovine model of congenital heart disease: a preserved fetal phenotype.

    PubMed

    Kameny, Rebecca Johnson; He, Youping; Morris, Catherine; Sun, Christine; Johengen, Michael; Gong, Wenhui; Raff, Gary W; Datar, Sanjeev A; Oishi, Peter E; Fineman, Jeffrey R

    2015-07-01

    We recently reported superior right ventricle (RV) performance in response to acute afterload challenge in lambs with a model of congenital heart disease with chronic left-to-right cardiac shunts. Compared with control animals, shunt lambs demonstrated increased contractility because of an enhanced Anrep effect (the slow increase in contractility following myocyte stretch). This advantageous physiological response may reflect preservation of a fetal phenotype, since the RV of shunt lambs remains exposed to increased pressure postnatally. Nitric oxide (NO) production by NO synthase (NOS) is activated by myocyte stretch and is a necessary intermediary of the Anrep response. The purpose of this study was to test the hypothesis that NO signaling is increased in the RV of fetal lambs compared with controls and shunt lambs have persistence of this fetal pattern. An 8-mm graft was placed between the pulmonary artery and aorta in fetal lambs (shunt). NOS isoform expression, activity, and association with activating cofactors were determined in fetal tissue obtained during late-gestation and in 4-wk-old juvenile shunt and control lambs. We demonstrated increased RNA and protein expression of NOS isoforms and increased total NOS activity in the RV of both shunt and fetal lambs compared with control. We also found increased NOS activation and association with cofactors in shunt and fetal RV compared with control. These data demonstrate preserved fetal NOS phenotype and NO signaling in shunt RV, which may partially explain the mechanism underlying the adaptive response to increased afterload seen in the RV of shunt lambs.

  15. Iodine-Induced Hypothyroidism in Full-term Infants With Congenital Heart Disease: More Common Than Currently Appreciated?

    PubMed Central

    Leung, A. M.; Braverman, L. E.; Brown, R. S.; Levine, B.

    2014-01-01

    Context: Iodine is a micronutrient essential for thyroid hormone synthesis. Thyroid hormone is critical for normal neurocognitive development in young infants, and even transient hypothyroidism can cause adverse neurodevelopmental outcomes. Both iodine deficiency and excess can cause hypothyroidism. Although iodine-induced hypothyroidism is well recognized in premature infants, full-term neonates have received less attention. Infants with congenital heart disease (CHD) are commonly exposed to excess iodine from administration of iodinated contrast agents during cardiac catheterization as well as topical application of iodine-containing antiseptics and dressings; hence, this is a vulnerable population. Objective: We report three cases of iodine-induced hypothyroidism in full-term neonates with CHD after cardiac angiography and topical application of iodine-containing antiseptics and dressings in the operative setting. Results: Three neonates with CHD and normal thyroid function at birth developed hypothyroidism after exposure to excess iodine. Two of these infants had transient hypothyroidism, and one had severe hypothyroidism requiring ongoing thyroid replacement therapy. All infants were asymptomatic, with hypothyroidism detected incidentally in the inpatient setting due to repeat newborn screening mandated by the long duration of hospitalization in these infants. Conclusions: Iodine-induced hypothyroidism may be under-recognized in infants with CHD exposed to excess iodine. Systematic monitoring of thyroid function should be considered to avoid potential long-term adverse neurodevelopmental effects of even transient thyroid dysfunction in this susceptible population. PMID:25004248

  16. Counseling role of primary care physicians in preventing early childhood caries in children with congenital heart disease.

    PubMed

    Liu, Zifeng; Yu, Dongsheng; Zhou, Lijie; Yang, Jing; Lu, Jiaxuan; Lu, Hui; Zhao, Wei

    2014-01-01

    The dental health of preschool children with congenital heart disease (CHD) is usually poor, which may contribute to the development of infective endocarditis (IE). Primary care physicians play an important role in providing access to preventive dental services, particularly for preschool children. The object of this study was to provide epidemiologic evidence for the impact of primary care physicians' (PCP's) counseling role on early childhood caries in children with CHD in Guangzhou, China, which might guide future caries prevention to decrease the risk of IE in children with CHD. A hospital-based, case-control study was performed, which contained 100 children with newly diagnosed early childhood caries and 100 matched (sex and age) children without dental caries. All of the subjects were diagnosed with CHD at birth and recruited from Guangdong Cardiovascular Institute from 2012 through 2013. A conditional multivariate logistic-regression model was used to assess the associations between PCPs' role and early childhood caries with a significance level of 5%. Our findings revealed that mother's education level (OR = 0.36, CL = 0.14-0.92) and knowledge, being educated on the relationship between CHD and infective endocarditis (OR = 0.48, CL = 0.25-0.94) and the impact of oral health on infective endocarditis (OR = 0.37, CL = 0.18-0.79) by the PCP were associated with early childhood caries. PCPs played an important role in preventing early childhood caries among preschool children with CHD in Guangzhou, China. PMID:25500998

  17. Counseling role of primary care physicians in preventing early childhood caries in children with congenital heart disease.

    PubMed

    Liu, Zifeng; Yu, Dongsheng; Zhou, Lijie; Yang, Jing; Lu, Jiaxuan; Lu, Hui; Zhao, Wei

    2014-12-09

    The dental health of preschool children with congenital heart disease (CHD) is usually poor, which may contribute to the development of infective endocarditis (IE). Primary care physicians play an important role in providing access to preventive dental services, particularly for preschool children. The object of this study was to provide epidemiologic evidence for the impact of primary care physicians' (PCP's) counseling role on early childhood caries in children with CHD in Guangzhou, China, which might guide future caries prevention to decrease the risk of IE in children with CHD. A hospital-based, case-control study was performed, which contained 100 children with newly diagnosed early childhood caries and 100 matched (sex and age) children without dental caries. All of the subjects were diagnosed with CHD at birth and recruited from Guangdong Cardiovascular Institute from 2012 through 2013. A conditional multivariate logistic-regression model was used to assess the associations between PCPs' role and early childhood caries with a significance level of 5%. Our findings revealed that mother's education level (OR = 0.36, CL = 0.14-0.92) and knowledge, being educated on the relationship between CHD and infective endocarditis (OR = 0.48, CL = 0.25-0.94) and the impact of oral health on infective endocarditis (OR = 0.37, CL = 0.18-0.79) by the PCP were associated with early childhood caries. PCPs played an important role in preventing early childhood caries among preschool children with CHD in Guangzhou, China.

  18. Comparison of Computed Tomography and Cineangiography in the Demonstration of Central Pulmonary Arteries in Cyanotic Congenital Heart Disease

    SciTech Connect

    Taneja, Karuna; Sharma, Sanjiv; Kumar, Krishan; Rajani, Mira

    1996-03-15

    Purpose: To assess the diagnostic accuracy of contrast-enhanced computed tomography (CT) for central pulmonary artery pathology in patients with cyanotic congenital heart disease (CCHD) and right ventricular outflow obstruction. Methods: We compared contrast-enhanced CT and cine pulmonary arteriography in 24 patients with CCHD to assess central pulmonary arteries including the confluence. Both investigations were interpreted by a cardiac radiologist in a double-blinded manner at an interval of 3 weeks. Angiography was used as the gold standard for comparison. Results: The sensitivity for visualization of main pulmonary artery (MPA), right pulmonary artery (RPA), left pulmonary artery (LPA), and confluence on CT was 94%, 100%, 92.8%, and 92.8%, respectively. Diagnostic specificity for the same entities was 28.5%, 100%, 80%, and 50%, respectively. The positive predictive value for each was 76.2%, 100%, 94.1%, and 72.2%, respectively. The low specificity of CT in the evaluation of the MPA and the confluence is perhaps due to distorted right ventricular outflow anatomy in CCHD. Large aortopulmonary collaterals in this region were mistaken for the MPA in some patients with pulmonary atresia. Conclusion: CT is a useful, relatively noninvasive, imaging technique for the central pulmonary arteries in selected patients. It can supplement diagnostic information from angiography but cannot replace it. LPA demonstration on axial images alone is inadequate.

  19. Control of rubella and congenital rubella syndrome (CRS) in developing countries, Part 1: Burden of disease from CRS.

    PubMed Central

    Cutts, F. T.; Robertson, S. E.; Diaz-Ortega, J. L.; Samuel, R.

    1997-01-01

    Congenital rubella syndrome (CRS) can lead to deafness, heart disease, and cataracts, and a variety of other permanent manifestations. In developing countries, the burden of CRS has been assessed as follows: by surveillance of CRS; by surveillance of acquired rubella; by age-stratified serosurveys; and by serosurveys documenting the rubella susceptibility of women of childbearing age. During rubella outbreaks, rates of CRS per 1000 live births were at least 1.7 in Israel, 1.7 in Jamaica, 0.7 in Oman, 2.2 in Panama, 1.5 in Singapore, 0.9 in Sri Lanka, and 0.6 in Trinidad and Tobago. These rates are similar to those reported from industrialized countries during the pre-vaccine era. Special studies of CRS have been reported from all WHO regions. Rubella surveillance data show that epidemics occur every 4-7 years, similar to the situation in Europe during the pre-vaccination era. In developing countries, the estimated average age at infection varies from 2-3 years to 8 years. For 45 developing countries we identified serosurveys of women of childbearing age that had enrolled > or = 100 individuals. The proportion of women who remained susceptible to rubella (e.g. seronegative) was < 10% in 13 countries. 10-24% in 20 countries, and > or = 25% in 12 countries. Discussed are methods to improve the surveillance of rubella and CRS in developing countries. PMID:9141751

  20. Impact of Exercise Training in Aerobic Capacity and Pulmonary Function in Children and Adolescents After Congenital Heart Disease Surgery: A Systematic Review with Meta-analysis.

    PubMed

    Gomes-Neto, Mansueto; Saquetto, Micheli Bernardone; da Silva e Silva, Cassio Magalhães; Conceição, Cristiano Sena; Carvalho, Vitor Oliveira

    2016-02-01

    The aim of the study was to examine the effects of exercise training on aerobic capacity and pulmonary function in children and adolescents after congenital heart disease surgery. We searched MEDLINE, Cochrane Controlled Trials Register, EMBASE, (from the earliest date available to January 2015) for controlled trials that evaluated the effects of exercise training on aerobic capacity and pulmonary function (forced expiratory volume in 1 s and forced vital capacity) in children and adolescents after congenital heart disease surgery. Weighted mean differences and 95 % confidence intervals (CIs) were calculated,, and heterogeneity was assessed using the I (2) test. Eight trials (n = 292) met the study criteria. The results suggested that exercise training compared with control had a positive impact on peak VO2. Exercise training resulted in improvement in peak VO2 weighted mean difference (3.68 mL kg(-1) min(-1), 95 % CI 1.58-5.78). The improvement in forced expiratory volume in 1 s and forced vital capacity after exercise training was not significant. Exercise training may improve peak VO2 in children and adolescents after congenital heart disease surgery and should be considered for inclusion in cardiac rehabilitation. Further larger randomized controlled trials are urgently needed to investigate different types of exercise and its effects on the quality of life.

  1. Parental support, internalizing symptoms, perceived health status, and quality of life in adolescents with congenital heart disease: influences and reciprocal effects.

    PubMed

    Luyckx, Koen; Goossens, Eva; Rassart, Jessica; Apers, Silke; Vanhalst, Janne; Moons, Philip

    2014-02-01

    Caring for adolescents with congenital heart disease requires attention to physical health but also to psychosocial functioning. Identifying how such psychosocial variables influence one another over time is important for designing health care strategies. The present study examined how depressive symptoms, loneliness, paternal and maternal support, and quality of life predicted one another. A total of 429 mid- to late adolescents with congenital heart disease (53.4 % boys) participated in a three-wave longitudinal study. Cross-lagged analyses indicated that depressive symptoms and loneliness mutually reinforced one another over time and led to relative decreases in quality of life. Paternal- and not so much maternal-support predicted relative decreases in depressive symptoms and loneliness and relative increases in quality of life. Maternal and paternal support, in turn, were negatively predicted by previous levels of adolescent depressive symptoms. In sum, important temporal sequences were uncovered potentially providing information for prevention and intervention targeting psychosocial functioning in adolescents with congenital heart disease.

  2. Congenital Type III von Willebrand's disease unmasked by hypothyroidism in a Shetland sheepdog.

    PubMed

    Scuderi, Margaret; Bessey, Lauren; Snead, Elisabeth; Burgess, Hilary; Carr, Anthony

    2015-09-01

    A 7-year-old, spayed female Shetland sheepdog had sudden onset of right-sided epistaxis. Diagnostic tests revealed Type III von Willebrand's disease and primary hypothyroidism leading to an acute hypothyroid crisis and acquired factor VIII (FVIII) deficiency. Levothyroxine therapy normalized the serum thyroxine and FVIII concentrations. The delayed onset of disease and the reversible FVIII deficiency that was corrected with levothyroxine therapy, support a role for hypothyroidism in the pathogenesis of this dog's sudden bleeding tendency as has been seen with hypothyroidism in humans. PMID:26347307

  3. Congenital Type III von Willebrand's disease unmasked by hypothyroidism in a Shetland sheepdog.

    PubMed

    Scuderi, Margaret; Bessey, Lauren; Snead, Elisabeth; Burgess, Hilary; Carr, Anthony

    2015-09-01

    A 7-year-old, spayed female Shetland sheepdog had sudden onset of right-sided epistaxis. Diagnostic tests revealed Type III von Willebrand's disease and primary hypothyroidism leading to an acute hypothyroid crisis and acquired factor VIII (FVIII) deficiency. Levothyroxine therapy normalized the serum thyroxine and FVIII concentrations. The delayed onset of disease and the reversible FVIII deficiency that was corrected with levothyroxine therapy, support a role for hypothyroidism in the pathogenesis of this dog's sudden bleeding tendency as has been seen with hypothyroidism in humans.

  4. The Effects of Congenital Heart Disease on Cognitive Development, Illness Causality Concepts, and Vulnerability.

    ERIC Educational Resources Information Center

    Myers-Vando, Rosemary; And Others

    1979-01-01

    It was found, among other things, that Ss with cardiac disease responded at lower levels of development on attainment of conservation tasks than did normal controls, and that cardiac Ss appeared to feel somewhat more vulnerable to illness in general, especially when projecting to adult health status. (DLS)

  5. Congenital complete atrioventricular block.

    PubMed Central

    Kertesz, N J; Fenrich, A L; Friedman, R A

    1997-01-01

    Congenital complete atrioventricular block is found in 1 of 22,000 live births. Over time, it has become apparent that these patients represent not a single distinct disease process, but several processes with the common manifestation of atrioventricular block. The evaluation of these patients to determine their risk of sudden death and need for pacing is not well defined. Images PMID:9456483

  6. Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene

    PubMed Central

    Drögemüller, Michaela; Jagannathan, Vidhya; Welle, Monika M.; Graubner, Claudia; Straub, Reto; Gerber, Vinzenz; Burger, Dominik; Signer-Hasler, Heidi; Poncet, Pierre-André; Klopfenstein, Stéphane; von Niederhäusern, Ruedi; Tetens, Jens; Thaller, Georg; Rieder, Stefan; Drögemüller, Cord; Leeb, Tosso

    2014-01-01

    Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed. We performed a genome-wide association study with 5 cases and 12 controls and detected an association on chromosome 20. Subsequent homozygosity mapping defined a critical interval of 952 kb harboring 10 annotated genes and loci including the polycystic kidney and hepatic disease 1 (autosomal recessive) gene (PKHD1). PKHD1 represents an excellent functional candidate as variants in this gene were identified in human patients with autosomal recessive polycystic kidney and hepatic disease (ARPKD) as well as several mouse and rat mutants. Whereas most pathogenic PKHD1 variants lead to polycystic defects in kidney and liver, a small subset of the human ARPKD patients have only liver symptoms, similar to our horses with congenital hepatic fibrosis. The PKHD1 gene is one of the largest genes in the genome with multiple alternative transcripts that have not yet been fully characterized. We sequenced the genomes of an affected foal and 46 control horses to establish a comprehensive list of variants in the critical interval. We identified two missense variants in the PKHD1 gene which were strongly, but not perfectly associated with congenital hepatic fibrosis. We speculate that reduced penetrance and/or potential epistatic interactions with hypothetical modifier genes may explain the imperfect association of the detected PKHD1 variants. Our data thus indicate that horses with congenital hepatic fibrosis represent an interesting large animal model for the liver-restricted subtype of human ARPKD. PMID:25295861

  7. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  8. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  9. [Congenital analgesia].

    PubMed

    Accornero, N; Bini, G; Cruccu, G

    1980-01-01

    The case of a 12 years old boy with a congenital anaesthesia covering all cutaneous and visceral districts is reported. There were no other neurological abnormalities apart a light mental retardation and loss of axon reflex after intradermal injection of hystamine. Notwithstanding this last finding a diagnosis of congenital indifference to pain was made. The differential diagnosis between indifference and insensitivity to pain is discussed. PMID:6162189

  10. A Striking Coronary Artery Pattern in a Grown-Up Congenital Heart Disease Patient

    PubMed Central

    Iacovelli, Fortunato; Pepe, Martino; Contegiacomo, Gaetano; Alberotanza, Vito; Masi, Filippo; Bortone, Alessandro Santo; Favale, Stefano

    2016-01-01

    Left ventricular noncompaction (LVNC) is a myocardial disorder probably due to the arrest of normal embryogenesis of the left ventricle. It could be isolated or associated with other extracardiac and cardiac abnormalities, including coronary artery anomalies. Despite the continuous improvement of imaging resolution quality, this cardiomyopathy still remains frequently misdiagnosed, especially if associated with other heart diseases. We report a case of LVNC association with both malposition of the great arteries and a very original coronary artery pattern. PMID:26881144

  11. A Striking Coronary Artery Pattern in a Grown-Up Congenital Heart Disease Patient.

    PubMed

    Iacovelli, Fortunato; Pepe, Martino; Contegiacomo, Gaetano; Alberotanza, Vito; Masi, Filippo; Bortone, Alessandro Santo; Favale, Stefano

    2016-01-01

    Left ventricular noncompaction (LVNC) is a myocardial disorder probably due to the arrest of normal embryogenesis of the left ventricle. It could be isolated or associated with other extracardiac and cardiac abnormalities, including coronary artery anomalies. Despite the continuous improvement of imaging resolution quality, this cardiomyopathy still remains frequently misdiagnosed, especially if associated with other heart diseases. We report a case of LVNC association with both malposition of the great arteries and a very original coronary artery pattern. PMID:26881144

  12. [Right heart failure in a patient with unexplained tricuspid regurgitation and a rare congenital heart disease].

    PubMed

    Tufaro, Vincenzo; Slavich, Massimo; Fisicaro, Andrea; Ingallina, Giacomo; Margonato, Alberto; Agricola, Eustachio

    2013-01-01

    We report the case of a 63-year-old woman admitted to the intensive care unit because of acute decompensated right heart failure. Transthoracic and transesophageal echocardiography revealed severe right ventricular dysfunction with severe tricuspid regurgitation of unknown origin and a large membrane running from the inferior vena cava to the interatrial septum with significant diastolic transmembrane gradient, consistent with the diagnosis of cor triatriatum dexter. The clinical interest of our findings relies on the coexistence of multiple diseases, which actually contributed in a different but synergistic manner to right heart failure.

  13. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

  14. A randomized controlled trial of motavizumab versus palivizumab for the prophylaxis of serious respiratory syncytial virus disease in children with hemodynamically significant congenital heart disease.

    PubMed

    Feltes, Timothy F; Sondheimer, Henry M; Tulloh, Robert M R; Harris, Brian S; Jensen, Kathryn M; Losonsky, Genevieve A; Griffin, M Pamela

    2011-08-01

    Children with hemodynamically significant congenital heart disease (CHD) are at risk for serious respiratory syncytial virus (RSV) disease. This study was designed to assess the safety and tolerability of motavizumab versus palivizumab in children with CHD and was not powered for efficacy. Patients (n = 1236) aged ≤24 mo were randomized to receive five monthly doses (15 mg/kg) of motavizumab or palivizumab during the RSV season. Adverse events (AEs) and serious AEs (SAEs) were recorded through 30 d after the last dose. RSV hospitalizations and RSV outpatient medically attended lower respiratory tract infections (MALRI; season 2) were summarized. Approximately 93 and 50% of patients reported an AE or SAE, respectively. Skin events occurred in 19.3% of motavizumab recipients and 16.2% of palivizumab recipients. Rates of hospitalizations and RSV MALRI were similar between treatment groups [relative risk (RR): 0.75; 95% CI, 0.34-1.59 and RR: 0.49; 95% CI, 0.10-1.99, respectively; both p > 0.05]. Motavizumab and palivizumab had similar safety profiles in children with hemodynamically significantly CHD; with the exception of skin events which were increased in motavizumab recipients. Safety and efficacy were consistent with another study comparing motavizumab with palivizumab in premature infants without CHD. PMID:21522037

  15. Congenital Vascular Anomalies.

    PubMed

    Gravereaux, Edwin C.; Nguyen, Louis L.; Cunningham, Leslie D.

    2004-04-01

    Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to those causing ischemia, ulceration, hemorrhage, or high-output congestive heart failure. Treatment of large, symptomatic arteriovenous malformations often requires catheter-directed embolization prior to the attempt at complete surgical excision. Later recurrence, due to collateral recruitment, is frequent. Graded compression stockings and leg elevation are the mainstays of treatment for the predominantly venous congenital vascular anomalies. Most congenital central venous disorders are clinically silent. An exception is the retrocaval ureter. Retroaortic left renal vein, circumaortic venous ring, and absent, left-sided or duplicated inferior vena cava are relevant when aortic or inferior vena cava procedures are planned. The treatment of the venous disorders is directed at prevention or management of symptoms. Persistent sciatic artery, popliteal entrapment syndrome, and aberrant right subclavian artery origin are congenital anomalies that are typically symptomatic at presentation. Because they mimic more common diseases, diagnosis is frequently delayed. Delay can result in significant morbidity for the patient. Failure to make the diagnosis of persistent sciatic artery and popliteal entrapment can result in critical limb ischemia and subsequent amputation. Unrecognized aberrant right subclavian artery origin associated with aneurysmal degeneration can rupture and result in death. The treatment options for large-vessel arterial anomalies are surgical, sometimes in combination with endovascular techniques.

  16. Consecutive percutaneous valve-in-valve replacement late after Ross procedure: A novel approach in an adult with congenital heart disease.

    PubMed

    Wiktor, Dominik M; Kay, Joseph D; Kim, Michael S

    2015-11-15

    The emergence of transcatheter valve technology over the last decade has made significant impact on the treatment of patients with valvular heart disease. There has been increasing experience with both native and valve-in-valve indications with promising results. We present the case of a young woman with congenital heart disease who underwent the Ross procedure for bicuspid aortic valve endocarditis with subsequent reoperation and surgical aortic valve replacement for neo-aortic root dilation who experienced worsening symptoms related to both pulmonary and aortic valve dysfunction. She was successfully treated with percutaneous pulmonary and aortic valve replacement with excellent early term technical results and marked improvement in symptoms.

  17. Natural history of Brugada syndrome in a patient with congenital heart disease.

    PubMed

    Silva, Doroteia; Martins, Fernando Maymone; Cavaco, Diogo; Adragão, Pedro; Silva, Margarida Matos; Anjos, Rui; Ferreira, Álvaro; Gaspar, Isabel Mendes

    2015-01-01

    Risk stratification of sudden death in patients with Brugada syndrome (BrS) is a controversial issue, and there is currently no consensus on the best method. Examination of data from the natural history of the disease is of fundamental importance and may help to identify relatives at risk. At the same time, study of the genetic mutations responsible for the disease may also contribute to risk stratification of the syndrome, enabling identification of asymptomatic relatives carrying mutations. This paper presents the case of a young man, aged 26, monitored as a pediatric cardiology outpatient from birth for a simple structural heart defect not requiring surgery. Analysis of the evolution of the patient's electrocardiogram revealed the appearance, at the age of 20, of a pattern compatible with type I BrS. Following an episode of syncope and induction of polymorphic ventricular tachycardia in the electrophysiological study, a cardioverter-defibrillator was implanted. One year later, a single shock terminated an episode of ventricular fibrillation. A molecular study of the SCN5A gene identified a rare mutation, c.3622G>T (p.Glu1208X), recently described and associated with more severe phenotypes in patients with BrS, as in the case presented. PMID:26148667

  18. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.

    PubMed

    Chou, Christopher M; Nelson, Christine; Tarlé, Susan A; Pribila, Jonathan T; Bardakjian, Tanya; Woods, Sean; Schneider, Adele; Glaser, Tom

    2015-04-23

    Gestational vitamin A (retinol) deficiency poses a risk for ocular birth defects and blindness. We identified missense mutations in RBP4, encoding serum retinol binding protein, in three families with eye malformations of differing severity, including bilateral anophthalmia. The mutant phenotypes exhibit dominant inheritance, but incomplete penetrance. Maternal transmission significantly increases the probability of phenotypic expression. RBP normally delivers retinol from hepatic stores to peripheral tissues, including the placenta and fetal eye. The disease mutations greatly reduce retinol binding to RBP, yet paradoxically increase the affinity of RBP for its cell surface receptor, STRA6. By occupying STRA6 nonproductively, the dominant-negative proteins disrupt vitamin A delivery from wild-type proteins within the fetus, but also, in the case of maternal transmission, at the placenta. These findings establish a previously uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA, and define a group of hereditary disorders plausibly modulated by dietary vitamin A.

  19. Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

    PubMed

    Trkova, Marie; Hynek, Martin; Dudakova, Lubica; Becvarova, Vera; Hlozanek, Martin; Raskova, Dagmar; Vincent, Andrea L; Liskova, Petra

    2016-07-01

    We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2, and not present in variation databases. In the second pregnancy, lens hyperechogenicity was detected by ultrasound at week 13 and 4 days. The identical duplication at 22q11.23 was found in the fetus and considered as possibly pathogenic. At weeks 22 and 30, smaller orbit measurements were elucidated on ultrasound, raising concerns as to the underlying molecular genetic cause, necessitating further investigation. Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). Neither mutation has been previously reported to be disease-causing; however, evaluation in the context of previously published literature indicated their deleterious nature, implying a clinical diagnosis of Warburg micro syndrome or Martsolf syndrome. Sanger sequencing confirmed segregation of the two mutations within the family, consistent with autosomal recessive inheritance. The child born from the second pregnancy showed features typical of Warburg micro syndrome, with the exception of microcephaly, at age 31 months. © 2016 Wiley Periodicals, Inc. PMID:27256633

  20. Long-Term Outcome After Ablation of Right Atrial Tachyarrhythmias After the Surgical Repair of Congenital and Acquired Heart Disease.

    PubMed

    Anguera, Ignasi; Dallaglio, Paolo; Macías, Rosa; Jiménez-Candil, Javier; Peinado, Rafael; García-Seara, Javier; Arcocha, Mari Fe; Herreros, Benito; Quesada, Aurelio; Hernández-Madrid, Antonio; Alvarez, Miguel; Filgueiras, David; Matía, Roberto; Cequier, Angel; Sabaté, Xavier

    2015-06-15

    Atrial myopathy, atriotomies, and fibrotic scars are the pathophysiological substrate of lines of conduction block, promoting atrial macroreentry. The aim of this study was to determine the acute and long-term outcome of radiofrequency catheter ablation (RFCA) for right atrial tachyarrhythmia (AT) in adults after cardiac surgery for congenital heart disease (CHD) and acquired heart disease (AHD) and predictors of these outcomes. Clinical records of adults after surgery for heart disease undergoing RFCA of right-sided AT were analyzed retrospectively. Multivariate analyses identified clinical and procedural factors predicting acute and long-term outcomes. A total of 372 patients (69% men; age 61 ± 15 years) after surgical repair of CHD (n = 111) or AHD (n = 261) were studied. Cavotricuspid isthmus-dependent atrial flutter (CTI-AFL) was observed in 300 patients and non-CTI-AFL in 72 patients. Ablation was successful in 349 cases (94%). During a mean follow-up of 51 ± 30 months, recurrences were observed in 24.5% of patients. Multivariate analysis showed that non-CTI-AFL (hazard ratio [HR] 1.78, 95% confidence interval [CI] 1.1 to 2.9) and CHD (HR 1.75, 95% CI 1.07 to 2.9) were independent predictors of long-term recurrences. Multivariate analysis showed that female gender (HR 2.29, 95% CI 1.6 to 3.3), surgery for AHD (HR 95% 2.31, 95% CI 1.5 to 3.7), and left atrial dilatation (HR 2.1, 95% CI 1.3 to 3.2) were independent predictors of long-term atrial fibrillation. In conclusion, RFCA of right-sided AT after cardiac surgery is associated with high acute success rates and significant long-term recurrences. Non-CTI-dependent AFL and surgery for CHD are at higher risk of recurrence. Atrial fibrillation is common during follow-up, particularly in patients with AHD and enlarged left atrium. PMID:25896151

  1. Diagnostic, prognostic and therapeutic relevance of B-type natriuretic hormone and related peptides in children with congenital heart diseases.

    PubMed

    Cantinotti, Massimiliano; Giovannini, Stefania; Murzi, Bruno; Clerico, Aldo

    2011-04-01

    The aim of this article is to review the diagnostic and prognostic relevance of measurement of brain natriuretic peptide (BNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) in pediatric patients with congenital cardiac diseases (CHD). A computerized literature search in the National Library of Medicine using the keywords "BNP assay" and "NT-proBNP assay"+neonate/s and newborn/s was performed. Next, we refined the analysis to include only the studies specifically designed to evaluate the clinical usefulness of BNP and NT-proBNP measurements in children with CHD. Several authors suggested that BNP/NT-proBNP is clinically helpful as a diagnostic and prognostic marker for children with suspected CHD. BNP values are age dependent, even in paediatric populations. Unfortunately, accurate reference values for BNP and NT-proBNP for neonatal ages have only recently become available. As a result, the lack of homogenous and accurate decisional levels in the neonatal period greatly limits the clinical impact of the BNP assay, and also contributed to the production of conflicting results. Regardless of age, there is great variability in BNP/NT-proBNP values among CHD characterized by different hemodynamic and clinical conditions. In particular, cardiac defects characterized by left ventricular volume and pressure overload usually show a higher BNP response than CHD which is characterized by right ventricular volume or pressure overload. BNP and NT-proBNP may be considered helpful markers in the integral clinical approach for patients with CHD. Measurement of BNP cannot replace cardiac imaging (including echocardiography, angiography and magnetic resonance), but provide independent, low cost and complementary information for the evaluation of cardiac function and clinical status.

  2. Risk Factors for Increased Hospital Resource Utilization and In-Hospital Mortality in Adults With Single Ventricle Congenital Heart Disease.

    PubMed

    Collins, Ronnie Thomas; Doshi, Pratik; Onukwube, Jennifer; Fram, Ricki Y; Robbins, James M

    2016-08-01

    Most patients with single ventricle congenital heart disease are now expected to survive to adulthood. Co-morbid medical conditions (CMCs) are common. We sought to identify risk factors for increased hospital resource utilization and in-hospital mortality in adults with single ventricle. We analyzed data from the 2001 to 2011 Nationwide Inpatient Sample database in patients aged ≥18 years admitted to nonteaching general hospitals (NTGHs), TGHs, and pediatric hospitals (PHs) with either hypoplastic left heart syndrome, tricuspid atresia or common ventricle. National estimates of hospitalizations were calculated. Elixhauser CMCs were identified. Length of stay (LOS), total hospital costs, and effect of CMCs were determined. Age was greater in NTGH (41.5 ± 1.3 years) than in TGH (32.8 ± 0.5) and PH (25.0 ± 0.6; p <0.0001). Adjusted LOS was shorter in NTGH (5.6 days) than in PH (9.7 days; p <0.0001). Adjusted costs were higher in PH ($56,671) than in TGH ($31,934) and NTGH ($18,255; p <0.0001). CMCs are associated with increased LOS (p <0.0001) and costs (p <0.0001). Risk factors for in-hospital mortality included increasing age (odds ratio [OR] 5.250, CI 2.825 to 9.758 for 45- to 64-year old vs 18- to 30-year old), male gender (OR 2.72, CI 1.804 to 4.103]), and the presence of CMC (OR 4.55, CI 2.193 to 9.436) for 2 vs none). No differences in mortality were found among NTGH, TGH, and PH. Cardiovascular procedures were more common in PH hospitalizations and were associated with higher costs and LOS. CMCs increase costs and mortality. In-hospital mortality is increased with age, male gender, and the presence of hypoplastic left heart syndrome.

  3. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    PubMed Central

    Grassi, Marcília S.; Jacob, Cristina M. A.; Kulikowski, Leslie D.; Pastorino, Antonio C.; Dutra, Roberta L.; Miura, Nana; Jatene, Marcelo B.; Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda

    2014-01-01

    Background To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. PMID:25317860

  4. A community-based, case-control study of childhood stroke risk associated with congenital heart disease

    PubMed Central

    Fox, Christine K.; Sidney, Stephen; Fullerton, Heather J.

    2014-01-01

    Background and Purpose A better understanding of the stroke risk factors in children with congenital heart disease (CHD) could inform stroke prevention strategies. We analyzed pediatric stroke associated with CHD in a large community-based, case-control study. Methods From 2.5 million children (< 20 years) enrolled in a Northern California integrated healthcare plan, we identified ischemic and hemorrhagic strokes and randomly selected age and facility-matched stroke-free controls (3 per case). We determined exposure to CHD (diagnosed prior to stroke) and used conditional logistic regression to analyze stroke risk. Results CHD was identified in 15/412 cases (4%) versus 7/1,236 controls (0.6%). Children (28 days – 20 years) with CHD had 19-fold (Odds Ratio [OR] 19; 95% Confidence Interval [CI] 4.2, 83) increased stroke risk compared to controls. History of CHD surgery was associated with >30-fold increased risk of stroke (OR 31; CI 4, 241 compared to controls). After excluding peri-operative strokes, a history of CHD surgery still increased childhood stroke risk (OR 13; CI 1.5, 114). The majority of children with stroke and CHD were outpatient at the time of stroke, and almost half the cases who underwent cardiac surgery had their stroke >5 years after the most recent procedure. An estimated 7% of ischemic and 2% of hemorrhagic childhood strokes in the population were attributable to CHD. Conclusions CHD is an important childhood stroke risk factor. Children who undergo CHD surgery remain at elevated risk outside of the peri-operative period, and would benefit from optimized long-term stroke prevention strategies. PMID:25516197

  5. Dexmedetomidine is Associated with an Increased Incidence of Bradycardia in Patients with Trisomy 21 After Surgery for Congenital Heart Disease.

    PubMed

    Ueno, Kentaro; Ninomiya, Yumiko; Shiokawa, Naohiro; Hazeki, Daisuke; Eguchi, Taisuke; Kawano, Yoshifumi

    2016-10-01

    This study aimed to evaluate adverse cardiac events using dexmedetomidine in infants with trisomy 21 and those without (controls) and examined potential risk factors in infants after cardiovascular surgery. We conducted a single-center retrospective cohort study. The medical records of 124 consecutive infants who had undergone cardiovascular surgery between April 1, 2013, and October 31, 2015, were enrolled. Clinical characteristics, usage of dexmedetomidine, and perioperative medications were analyzed. Adverse cardiac events were assessed with the Naranjo score and World Health Organization-The Uppsala Monitoring Centre (WHO-UMC) criteria. In total, 124 consecutive infants (30 patients and 94 controls) met the inclusion criteria. Eight of 30 (26.7 %) patients with trisomy 21 and 12 of 94 (12.8 %) controls experienced adverse cardiac events (i.e., hypotension, transient hypertension, and bradycardia) during dexmedetomidine with median Naranjo score of 6, and causality categories of WHO-UMC criteria were "certain" or "probable." Of those, the incidence of bradycardia occurred at a higher rate in patients with trisomy 21 than in controls (P = 0.011). Multiple logistic regression analysis revealed that the presence of trisomy 21 was an independent risk factor for adverse cardiac events of dexmedetomidine after cardiovascular surgery (odds ratio 4.10, 95 % CI 1.17-11.19, P = 0.006). Dexmedetomidine is associated with an increased incidence of bradycardia in patients with trisomy 21 after surgery for congenital heart disease. Physicians using dexmedetomidine should know a great deal about the characteristics of patients with trisomy 21, and hemodynamic monitoring should be closely observed. PMID:27272693

  6. Length to width ratio of the ductus venosus in simple screening for fetal congenital heart diseases in the second trimester.

    PubMed

    Chiu, Wei-Hsiu; Lee, Shy-Ming; Tung, Tao-Hsin; Tang, Xiao-Mei; Liu, Ren-Shyan; Chen, Ran-Chou

    2016-09-01

    Antenatal diagnosis of congenital heart disease (CHD) is still low even though screening was first introduced over 25 years ago. The purpose of our study was to determine the efficacy of a second-trimester prenatal ultrasonographic method of screening for CHD.From September 2012 to September 2013, the length and width of the fetal ductus venosus were measured sonographically in 1006 singleton fetuses, and the ratio of length to width was calculated. The accuracy of each fetal measurement and Doppler ultrasonography were determined. The standard fetal echocardiographic evaluations including 2-dimensional gray-scale imaging, color, and Doppler color flow mapping were performed. The transducer was aligned to the long axis of the fetal trunk to view the ductus venosus in its full length, including the inlet (isthmus) and outlet portions of the vessel. The diameters of the vessel inner wall and mid-point of the ductus venosus were measured using calipers. All scans and fetal measurements were conducted by a registered sonographer with more than 20 years of perinatal ultrasound screening experience.Of the 1006 singleton fetuses between 19 and 28 weeks' gestation, 36 had CHD. The ductus venosus length/width ratio (DVR) for the first CHD screening was extremely sensitive at 88.90%, with a specificity of 99.10% for the cardiac abnormalities included in this study. Chromosomal anomalies accompanied CHD in 0.4% (4/1006) of all cases and 11.11% (4/36) of the CHD cases.The DVR differed significantly between fetuses with CHD and normal fetuses during the second trimester. Careful assessment of the ratio should be a part of the sonographic examination of every fetus. In the case of a small DVR, advanced echocardiography and karyotype analysis should be performed. The ratio is a helpful tool for screening CHD abnormalities prenatally in the Chinese population. PMID:27684831

  7. Counseling role of primary care physicians in preventing early childhood caries in children with congenital heart disease.

    PubMed

    Liu, Zifeng; Yu, Dongsheng; Zhou, Lijie; Yang, Jing; Lu, Jiaxuan; Lu, Hui; Zhao, Wei

    2014-12-01

    The dental health of preschool children with congenital heart disease (CHD) is usually poor, which may contribute to the development of infective endocarditis (IE).Primary care physicians play an important role in providing access to preventive dental services, particularly for preschool children. The object of this study was to provide epidemiologic evidence for the impact of primary care physicians’ (PCP’s) counseling role on early childhood caries in children with CHD in Guangzhou, China, which might guide future caries prevention to decrease the risk of IE in children with CHD. A hospital-based,case-control study was performed, which contained 100 children with newly diagnosed early childhood caries and 100 matched (sex and age) children without dental caries. All of the subjects were diagnosed with CHD at birth and recruited from Guangdong Cardiovascular Institute from 2012 through 2013. A conditional multivariate logistic-regression model was used to assess the associations between PCPs’ role and early childhood caries with a significance level of 5%. Our findings revealed that mother's education level (OR = 0.36,CL = 0.14–0.92) and knowledge, being educated on the relationship between CHD and infective endocarditis (OR = 0.48, CL = 0.25–0.94) and the impact of oral health on infective endocarditis (OR = 0.37, CL = 0.18–0.79) by the PCP were associated with early childhood caries. PCPs played an important role in preventing early childhood caries among preschool children with CHD in Guangzhou, China.

  8. Reduced Fetal Cerebral Oxygen Consumption is Associated With Smaller Brain Size in Fetuses With Congenital Heart Disease

    PubMed Central

    Sun, Liqun; Macgowan, Christopher K; Sled, John G; Yoo, Shi-Joon; Manlhiot, Cedric; Porayette, Prashob; Grosse-Wortmann, Lars; Jaeggi, Edgar; McCrindle, Brian W; Kingdom, John; Hickey, Edward; Miller, Steven; Seed, Mike

    2015-01-01

    Background Fetal hypoxia has been implicated in the abnormal brain development seen in newborns with congenital heart disease (CHD). New magnetic resonance imaging (MRI) technology now offers the potential to investigate the relationship between fetal hemodynamics and brain dysmaturation. Methods and Results We measured fetal brain size, oxygen saturation and blood flow in the major vessels of the fetal circulation in 30 late gestation fetuses with CHD and 30 normal controls using phase contrast MRI and T2 mapping. Fetal hemodynamic parameters were calculated using a combination of MRI flow and oximetry data and fetal hemoglobin concentrations estimated from population averages. In fetuses with CHD, reductions in umbilical vein oxygen content (p<0.001), and failure of the normal streaming of oxygenated blood from the placenta to the ascending aorta were associated with a mean reduction in ascending aortic saturation of 10% (p < 0.001), while cerebral blood flow and cerebral oxygen extraction were no different from controls. This accounted for the mean 15% reduction in cerebral oxygen delivery (p = 0.08) and 32% reduction cerebral VO2 in CHD fetuses (p < 0.001), which were associated with a 13% reduction in fetal brain volume (p < 0.001). Fetal brain size correlated with ascending aortic oxygen saturation and cerebral VO2 (r = 0.37 p = 0.004). Conclusions This study supports a direct link between reduced cerebral oxygenation and impaired brain growth in fetuses with CHD and raises the possibility that in utero brain development could be improved with maternal oxygen therapy. PMID:25762062

  9. Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease

    PubMed Central

    Liu, Yan; Huang, Peng; Lin, Ning; Sun, Xiaoru; Yu, Rongbin; Zhang, Yuanyuan; Qin, Yuming; Wang, Lijuan

    2015-01-01

    Purpose Congenital heart diseases (CHD) are among the most common birth defects in China. Environmental causes and folate metabolism changes may alter susceptibility to CHD. The aim of this study is to evaluate the relevant risk-factors of children with CHD and their mothers. Methods 138 children with CHD and 207 normal children for controls were recruited. Their mothers were also enlisted in this study and interviewed following a questionnaire about their pregnant history and early pregnancy situation. Five single nucleotide polymorphisms (SNPs) in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS) and cystathionine β-synthase (CBS) of mothers and children were genotyped. Results There were significant differences in the gender of children, occupation of mothers, family history with CHD, history of abortion, history of adverse pregnancy, early pregnancy health, fetus during pregnancy, pesticide exposure and drug exposure in CHD group and control group ( P < 0.05). Logistic regression analyses showed that after adjustment for above factors, MTHFR rs1801131 were significantly associated with their offspring CHD risk in mothers. Compared with the mothers whose MTHFR were rs1801131 AA and AC genotypes, the mothers who got a mutation of MTHFR rs1801131 CC genotypes had a 267% increase in risk of given birth of a CHD children (OR=3.67,95%CI=1.12-12.05). Meanwhile, MTHFR rs1801131 were significantly associated with CHD susceptibility in children (OR = 1.42, 95% CI = 1.00-2.44 in additive model). Conclusions Besides mothers’ social and fertility characteristics, our results suggested that the genetic variants in folate metabolism pathway might be one of the most related risk-factors of CHD. MTHFR rs1801131 were identified as loci in Chinese population that were involved in CHD. PMID:26035828

  10. Image Quality of Coronary Computed Tomography Angiography with 320-Row Area Detector Computed Tomography in Children with Congenital Heart Disease.

    PubMed

    Tada, Akihiro; Sato, Shuhei; Kanie, Yuichiro; Tanaka, Takashi; Inai, Ryota; Akagi, Noriaki; Morimitsu, Yusuke; Kanazawa, Susumu

    2016-03-01

    The objective of this study was to assess factors affecting image quality of 320-row computed tomography angiography (CTA) of coronary arteries in children with congenital heart disease (CHD). We retrospectively reviewed 28 children up to 3 years of age with CHD who underwent prospective electrocardiography (ECG)-gated 320-row CTA with iterative reconstruction. We assessed image quality of proximal coronary artery segments using a five-point scale. Age, body weight, average heart rate, and heart rate variability were recorded and compared between two groups: patients with good diagnostic image quality in all four coronary artery segments and patients with at least one coronary artery segment with nondiagnostic image quality. Altogether, 96 of 112 segments (85.7 %) had diagnostic-quality images. Patients with nondiagnostic segments were significantly younger (10.0 ± 11.6 months) and had lower body weight (5.9 ± 2.9 kg) (each p < 0.05) than patients with diagnostic image quality of all four segments (20.6 ± 13.8 months and 8.4 ± 2.5 kg, respectively; each p < 0.05). Differences in heart rate and heart rate variability between the two imaging groups were not significant. Receiver operating characteristic analyses for predicting patients with nondiagnostic image quality revealed an optimal body weight cutoff of ≤5.6 kg and an optimal age cutoff of ≤12.5 months. Prospective ECG-gated 320-row CTA with iterative reconstruction provided feasible image quality of coronary arteries in children with CHD. Younger age and lower body weight were factors that led to poorer image quality of coronary arteries.

  11. Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

    PubMed Central

    Chetaille, Philippe; Prince, Andrea; Godard, Beatrice; Leclerc, Severine; Sobreira, Nara; Ling, Hua; Awadalla, Philip; Thibeault, Maryse; Khairy, Paul; Samuels, Mark E.; Andelfinger, Gregor

    2016-01-01

    Left-ventricular outflow tract obstructions (LVOTO) encompass a wide spectrum of phenotypically heterogeneous heart malformations which frequently cluster in families. We performed family based whole-exome and targeted re-sequencing on 182 individuals from 51 families with multiple affected members. Central to our approach is the family unit which serves as a reference to identify causal genotype-phenotype correlations. Screening a multitude of 10 overlapping phenotypes revealed disease associated and co-segregating variants in 12 families. These rare or novel protein altering mutations cluster predominantly in genes (NOTCH1, ARHGAP31, MAML1, SMARCA4, JARID2, JAG1) along the Notch signaling cascade. This is in line with a significant enrichment (Wilcoxon, p< 0.05) of variants with a higher pathogenicity in the Notch signaling pathway in patients compared to controls. The significant enrichment of novel protein truncating and missense mutations in NOTCH1 highlights the allelic and phenotypic heterogeneity in our pediatric cohort. We identified novel co-segregating pathogenic mutations in NOTCH1 associated with left and right-sided cardiac malformations in three independent families with a total of 15 affected individuals. In summary, our results suggest that a small but highly pathogenic fraction of family specific mutations along the Notch cascade are a common cause of LVOTO. PMID:27760138

  12. Biochemical basis for dominant inheritance, variable penetrance and maternal effects in RBP4 congenital eye disease

    PubMed Central

    Chou, Christopher M.; Nelson, Christine; Tarlè, Susan A.; Pribila, Jonathan T.; Bardakjian, Tanya; Woods, Sean; Schneider, Adele; Glaser, Tom

    2015-01-01

    SUMMARY Gestational vitamin A (retinol) deficiency poses a risk for ocular birth defects and blindness. We identified missense mutations in RBP4, encoding serum retinol binding protein (RBP), in three families with eye malformations of differing severity. The mutant phenotypes exhibit dominant inheritance but incomplete penetrance. Maternal inheritance significantly increases the probability of phenotypic expression. RBP normally delivers retinol from hepatic stores to peripheral tissues, including the placenta and fetal eye. The disease mutations greatly reduce retinol binding to RBP yet paradoxically increase RBP affinity for its cell surface receptor, STRA6. By occupying STRA6 nonproductively, the dominant-negative proteins are predicted to disrupt vitamin A delivery from wild-type proteins within the fetus but also, in the case of maternal transmission, at the placenta. These findings establish a previously uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA, and define a group of hereditary disorders plausibly modulated by dietary vitamin A levels. PMID:25910211

  13. Deep Sequencing of the Trypanosoma cruzi GP63 Surface Proteases Reveals Diversity and Diversifying Selection among Chronic and Congenital Chagas Disease Patients