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Sample records for acyanotic congenital heart

  1. 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.

  2. 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

  3. 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 ...

  4. 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: ...

  5. 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

  6. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  7. Congenital Heart Information Network

    MedlinePlus

    ... Barmash and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  8. 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

  9. 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.

  10. 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

  11. 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

  12. 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%.

  13. [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.

  14. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  15. 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 ...

  16. Congenital Heart Defects

    MedlinePlus

    ... Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute

  17. Angiocardiography in congenital heart malformations

    SciTech Connect

    Soto, B.; Pacifico, A.D.

    1990-01-01

    The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders.

  18. [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.

  19. 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.

  20. 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.

  1. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  2. 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

  3. Prevalence, profile and predictors of malnutrition in children with congenital heart defects: a case–control observational study

    PubMed Central

    Okoromah, Christy A N; Ekure, Ekanem N; Lesi, Foluso E A; Okunowo, Wahab O; Tijani, Bolande O; Okeiyi, Jonathan C

    2011-01-01

    Objective To investigate the prevalence, profile and predictors of severe malnutrition in children with congenital heart defects (CHDs). Design Case–control, observational study. Setting Tertiary teaching hospital in Lagos, Nigeria (March 2006 to March 2008). Participants Children aged 3–192 months with uncorrected symptomatic CHD and healthy controls, frequency matched for age and sex. Main outcome measures Prevalence of malnutrition based on WHO/National Center for Health Statistics/Centers for Disease Control and Prevention z score ≤−2; weight for age, weight for height/length and height for age; proportions of underweight, wasting and stunting in cases and controls, and in acyanotic and cyanotic CHD; and predictors of malnutrition using multivariate logistic analysis. Results 90.4% of cases and 21.1% of controls had malnutrition (p=0.0001), and 61.2% and 2.6%, respectively, had severe malnutrition (p=0.0001). Wasting, stunting and underweight were identified in 41.1%, 28.8% and 20.5%, and 2.6%, 3.9% and 14.5% of cases and controls, respectively. Wasting was significantly higher (58.3%) in acyanotic CHD (p=0.0001), and stunting (68.0%) in cyanotic CHD (p=0.0001). Age at weaning was significantly lower in cases than controls (3.24±0.88 and 7.04±3.04 months, respectively; p=0.0001) and in acyanotic than cyanotic CHD (2.14±0.33 and 5.33±1.22 months, respectively; p=0.004). Predictors of malnutrition in CHD were anaemia, moderate to severe congestive heart failure (CHF), poor dietary intake of fat and prolonged unoperated disease. Conclusion Severe malnutrition in association with anaemia and moderate to severe CHF is highly prevalent in CHD preoperatively in these children. Early weaning may be a marker of feeding difficulties in heart failure. PMID:21266339

  4. 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

  5. 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.

  6. Living with a Congenital Heart Defect

    MedlinePlus

    ... well the heart’s chambers and valves are working. Health Insurance and Employment Adults who have congenital heart defects ... carefully consider how changing jobs will affect their health insurance coverage. Some health plans have waiting periods or ...

  7. 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.

  8. 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

  9. [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.

  10. [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.

  11. 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.

  12. [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.

  13. 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

  14. Congenital Heart Defects and CCHD

    MedlinePlus

    ... heart. Heart valves. These open and close to control blood flow to and from the heart. Arteries and veins. Arteries are blood vessels that carry blood away from the heart to the body. Veins are blood vessels that carry blood from ...

  15. 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.

  16. 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

  17. 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

  18. Recurrent congenital fibrosarcoma with heart metastases.

    PubMed

    Lohi, Olli; Vornanen, Martine; Kähkönen, Marketta; Vettenranta, Kim; Parto, Katriina; Arola, Mikko

    2012-07-01

    Congenital fibrosarcomas are malignant tumors that arise in soft tissues. In infants this unique tumor does not commonly metastasize, even though there may be local recurrences. We report here a boy who had congenital fibrosarcoma in his right foot, which was completely excised at the age of 3 days. Four months later, a solitary encapsulated metastasis emerged in thoracic chest wall, which was operated. During adjuvant chemotherapy he developed histologically confirmed fibrosarcoma metastases in the heart. After extended treatment with cyclophosphamide/topotecan and gemcitabine/docetaxel, the heart tumors disappeared and he has been in complete remission for 3 years.

  19. 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.

  20. 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

  1. Acyanotic tetralogy of Fallot in a Persian cat.

    PubMed

    Choi, Won-Jin; Suh, Sang-Il; Choi, Ran; Hyun, Changbaig

    2016-06-01

    An 8-year-old, intact male Persian cat was presented with a prominent heart murmur, exercise intolerance, anorexia, and periodontitis. There was no cyanosis and no laboratory evidence for systemic hypoxemia. Echocardiography showed a dextropositioned aorta, moderate pulmonic stenosis (maximal velocity 4.06 m/s), ventricular septal defect, and right ventricular hypertrophy. The shunt direction was predominantly left-to-right in systole and minimally right-to-left in diastole. The cat was diagnosed with acyanotic (pink) tetralogy of Fallot and was managed medically with atenolol. PMID:27247457

  2. 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.

  3. 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

  4. Congenital Heart Defects (For Parents)

    MedlinePlus

    ... in utero. previous continue Common Heart Defects (cont.) Patent Ductus Arteriosus (PDA) The ductus arteriosus is a ... newborn's lungs. PDA is common in premature babies . Patent Foramen Ovale (PFO) The patent foramen ovale is ...

  5. Congenital heart defect - corrective surgery

    MedlinePlus

    ... is left there to help keep the artery open. The procedure is done in a laboratory with ... arrhythmias. Sometimes, an ASD can be closed without open-heart surgery. First, the surgeon makes a tiny ...

  6. 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

  7. 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

  8. Recurrent congenital heart block in neonatal lupus.

    PubMed

    Escobar, Maria C; Gómez-Puerta, José A; Albert, Dimpna; Ferrer, Queralt; Girona, Josep

    2007-07-01

    Congenital heart block (CHB) is the main complication of neonatal lupus (NL) and is strongly associated with the presence of anti-SSA/Ro and anti-SSB/La antibodies. The recurrence of CHB in subsequent pregnancies in mothers with these antibodies is uncommon, occurring in approximately 15% of cases. We describe here a case of recurrent CHB in a previously asymptomatic mother with Sjögren syndrome and discuss the current strategies for the prevention and treatment of CHB in NL.

  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. Profile and risk factors for congenital heart defects: A study in a tertiary care hospital

    PubMed Central

    Abqari, Shaad; Gupta, Akash; Shahab, Tabassum; Rabbani, MU; Ali, S Manazir; Firdaus, Uzma

    2016-01-01

    Introduction: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. It is thus important to determine their prevalence and spectrum and identify risk factors associated with the development of heart defects. Materials and Methods: A case-control study was carried out in the Department of Pediatrics and Center of Cardiology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India, from February 2014 to August 2015. All patients referred with complaints or clinical examination suggestive of CHDs were further evaluated with echocardiography. On Echocardiography, patients having CHDs were included as cases and those having a normal echocardiographic study were included as controls. Healthy controls were also included. 400 cases and 400 controls were thus identified; preterms having patent ductus arteriosus and patent foramen ovale and those with acquired heart defects were excluded. Risk factors among cases and controls were further studied. Results: Acyanotic heart defects were 290 (72.50%) of the total heart defects, whereas the contribution of cyanotic heart defects was 110 (27.50%). Out of all CHDs, ventricular septal defect was the most common lesion with contribution of 152 (38%) cases, whereas among the cyanotic heart defects, Tetralogy of Fallot was the most common lesion (18% of total cases). Out of the total 400 cases, 261 were males (65.25%). On univariate analysis, paternal age (odds ratio, OR, 2.01), bad obstetric history (OR, 2.65), antenatal febrile illness (OR, 4.12), and advanced maternal age (OR, 3.28) were found to increase the risk of CHD whereas intake of multivitamin (OR, 3.02) was found to be protective. The risk factors were further analyzed with multivariate logistic regression analysis and all the above factors were found to be significantly associated. Conclusion: We noted that the profile of CHD in our population was similar

  11. Profile and risk factors for congenital heart defects: A study in a tertiary care hospital

    PubMed Central

    Abqari, Shaad; Gupta, Akash; Shahab, Tabassum; Rabbani, MU; Ali, S Manazir; Firdaus, Uzma

    2016-01-01

    Introduction: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. It is thus important to determine their prevalence and spectrum and identify risk factors associated with the development of heart defects. Materials and Methods: A case-control study was carried out in the Department of Pediatrics and Center of Cardiology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India, from February 2014 to August 2015. All patients referred with complaints or clinical examination suggestive of CHDs were further evaluated with echocardiography. On Echocardiography, patients having CHDs were included as cases and those having a normal echocardiographic study were included as controls. Healthy controls were also included. 400 cases and 400 controls were thus identified; preterms having patent ductus arteriosus and patent foramen ovale and those with acquired heart defects were excluded. Risk factors among cases and controls were further studied. Results: Acyanotic heart defects were 290 (72.50%) of the total heart defects, whereas the contribution of cyanotic heart defects was 110 (27.50%). Out of all CHDs, ventricular septal defect was the most common lesion with contribution of 152 (38%) cases, whereas among the cyanotic heart defects, Tetralogy of Fallot was the most common lesion (18% of total cases). Out of the total 400 cases, 261 were males (65.25%). On univariate analysis, paternal age (odds ratio, OR, 2.01), bad obstetric history (OR, 2.65), antenatal febrile illness (OR, 4.12), and advanced maternal age (OR, 3.28) were found to increase the risk of CHD whereas intake of multivitamin (OR, 3.02) was found to be protective. The risk factors were further analyzed with multivariate logistic regression analysis and all the above factors were found to be significantly associated. Conclusion: We noted that the profile of CHD in our population was similar

  12. [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.

  13. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. PMID:25497206

  14. 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

  15. 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

  16. 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

  17. 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.

  18. 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

  19. Risk factors predisposing to congenital heart defects

    PubMed Central

    Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

    2011-01-01

    Introduction: Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. Methods: A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Results: Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Conclusions: Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD. PMID:21976868

  20. 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

  1. 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.

  2. 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

  3. 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.

  4. 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

  5. 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.

  6. 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.

  7. Evaluation of Swallowing in Infants with Congenital Heart Defect

    PubMed Central

    Pereira, Karine da Rosa; Firpo, Cora; Gasparin, Marisa; Teixeira, Adriane Ribeiro; Dornelles, Silvia; Bacaltchuk, Tzvi; Levy, Deborah Salle

    2014-01-01

    Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036) and between oral-motor oral feeding readiness and dysphagia (p = 0.014). Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness. PMID:25992152

  8. Evaluation of swallowing in infants with congenital heart defect.

    PubMed

    Pereira, Karine da Rosa; Firpo, Cora; Gasparin, Marisa; Teixeira, Adriane Ribeiro; Dornelles, Silvia; Bacaltchuk, Tzvi; Levy, Deborah Salle

    2015-01-01

    Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036) and between oral-motor oral feeding readiness and dysphagia (p = 0.014). Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.

  9. 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

  10. 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

  11. 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 ...

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. Intrauterine Tobacco Smoke Exposure and Congenital Heart Defects.

    PubMed

    Forest, Sharron; Priest, Sandra

    2016-01-01

    Tobacco use and second-hand smoke exposure during pregnancy are linked to a host of deleterious effects on the pregnancy, fetus, and infant. Health outcomes improve when women quit smoking at any time during the pregnancy. However, the developing heart is vulnerable to noxious stimuli in the early weeks of fetal development, a time when many women are not aware of being pregnant. Congenital heart defects are the most common birth defects. Research shows an association between maternal tobacco exposure, both active and passive, and congenital heart defects. This article presents recent evidence supporting the association between intrauterine cigarette smoke exposure in the periconceptional period and congenital heart defects and discusses clinical implications for practice for perinatal and neonatal nurses. PMID:26813392

  1. 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.

  2. [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.

  3. 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.

  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. 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

  6. [Anti-Ro/SSA antibodies in congenital heart block].

    PubMed

    Barrios Prieto, Ernesto; Martínez Ceccopieri, David Alejandro; Panduro Barón, J Guadalupe; Fajardo Dueñas, Sergio

    2012-06-01

    Describe a case of a female patient having anti-Ro/SSA antibodies without any other risk factor or collagen disease. In her first pregnancy a congenital heart block and hydrops in the fetus were diagnosed, and these caused stillbirth. In a second pregnancy an in utero treatment resulted in the succesful delivery of a normal child.

  7. 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.

  8. 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…

  9. 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

  10. [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.

  11. [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.

  12. [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.

  13. Congenital Heart Surgery Nomenclature and Database Project: update and proposed data harvest.

    PubMed

    Maruszewski, Bohdan; Lacour-Gayet, Francois; Elliott, Martin J; Gaynor, J William; Jacobs, Jeffrey P; Jacobs, Marshall L; Tchervenkov, Christo I; Kurosawa, Hiromi; Mavroudis, Constantine

    2002-01-01

    In 1998, the first report of the Society of Thoracic Surgery (STS) National Congenital Heart Surgery Database reported the clinical features of 18 congenital heart categories. The report provided a significant amount of important information and also highlighted the strengths and weaknesses of the existing database. Following this report, the STS Congenital Heart Surgery Committee, in cooperation with the European Association of Cardio-Thoracic Surgery and the European Congenital Heart Surgeons Foundation, initiated the International Congenital Heart Surgery and Nomenclature Database Project. The goal was to begin the standardization of nomenclature and reporting strategies and establish the foundations for an international congenital heart surgery database. The first report of the International Congenital Heart Surgery Nomenclature Project was published in the Annals of Thoracic Surgery in April 2000. The current report outlines modifications to the minimal dataset, as well as the diagnosis and procedure short lists.

  14. Complete congenital heart block in autoimmune hepatitis (SLA-positive).

    PubMed

    Knolle, P; Mayet, W; Lohse, A W; Treichel, U; Meyer zum Büschenfelde, K H; Gerken, G

    1994-08-01

    Complete congenital heart block is a serious complication of neonatal lupus erythematosus which most often occurs in children of mothers suffering from connective tissue disease. We report the occurrence of complete congenital heart block associated with autoimmune hepatitis (SLA-positive). A 32-year-old woman was treated for more than 10 years for autoimmune hepatitis (SLA-/ANA-positive) and remained in clinical remission under immunosuppressive therapy. She showed an MHC-haplotype typical for autoimmune hepatitis (A1, B8, DR3). After a normal first pregnancy, an emergency caesarean section was performed in the 32nd week of her second pregnancy because of fetal bradycardia. The child died a few hours after delivery of complete congenital AV-block. Retrospective analysis of the maternal serum showed the emergence of SS-A/Ro-antibodies prior to the second pregnancy. The maternal serum antibodies were reactive with the 52 kD SS-A/Ro-antigen, as demonstrated by immunoblot employing recombinant SSA/Ro-antigen. The occurrence of complete congenital heart block has been shown to be associated with the presence of SS-A/Ro antibodies as well as the MHC-haplotype DR3. With respect to this genetic linkage, pregnant patients with autoimmune hepatitis and the MHC-haplotype DR3 should be examined for the presence of SS-A/Ro-antibodies. They should be closely followed during pregnancy to enable early detection of the development of congenital heart block, as prevention by plasmapheresis plus dexamethasone may be possible at an early stage.

  15. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    SciTech Connect

    Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

    1981-06-01

    Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke University Medical Center for evaluation of 343 patients with congenital heart disorders. A review of this experience shows tat the resulting data were frequently useful in the surgical management of these patients. In patients with abnormal blood flow patterns, noninvasive imaging of blood flow was useful before and after operative correction. Radionuclide measurements of left-to-right intracardiac shunts were sufficiently accurate for use in the initial evaluation of patients with murmurs and to document the absence of shunt after operative closure of intracardiac septal defects. Moreover, measurements of right-to-left cardiac shunts were of benefit in the management of children with cyanotic heart disease. Measurements of left ventricular function obtained during rest and exercise were most useful in patients with origin of the left coronary artery from the pulmonary artery and in patients with congenital valvular insufficiency. This experience demonstrates that radionuclide angiocardiography provides important measurements of central hemodynamics and cardiac function which are useful in the management of patients with congenital heart disorders.

  16. The association of scoliosis and congenital heart defects.

    PubMed

    Reckles, L N; Peterson, H A; Weidman, W H; Bianco, A J

    1975-06-01

    The effects of cardiac surgery on patients with congenital heart defects and the subsequent development of scoliosis were studied. A group of 998 patients with congenital heart defects who were less than sixteen years old were operated on at the Mayo Clinic during the ten-year period 1950 through 1959. Standing roentgenograms of the spine were made of 377 of the patients ten years or more after surgery. The ages of the patients at follow-up ranged from ten years and seven months to thirty-five years and three months, with a mean age of twenty-one years and four months. The average length of follow-up was fourteen years and eleven months. Of the 377 patients, thirty-two (8.5 per cent) had curves greater than 20 degrees. The female:male ratio of patients with congenital heart defects was 1:1, whereas of those who developed scoliosis it was 5:3. There was no correlation between scoliosis and the following: patient's sex, cardiac abnormality, size or side of the heart, side of the aortic arch, presence of cyanosis, age at surgery, number and type of surgical incisions, number and side of ribs removed, or number and type of surgical procedures. PMID:1141253

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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

  2. 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

  3. 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.

  4. [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.

  5. [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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Autoimmune congenital heart block: complex and unusual situations.

    PubMed

    Brito-Zerón, P; Izmirly, P M; Ramos-Casals, M; Buyon, J P; Khamashta, M A

    2016-02-01

    Autoimmune congenital heart block (ACHB) is an immune-mediated cardiac disease included among the manifestations collectively referred to as neonatal lupus. The placental transference of maternal Ro/La autoantibodies may damage the conduction tissues during fetal development leading to blocking of signal conduction at the atrioventricular (AV) node in an otherwise structurally normal heart. Irreversible complete AV block is the main cardiac manifestation of ACHB, but some babies may develop endocardial fibroelastosis, valvular insufficiency, and/or frank cardiomyopathies with significantly reduced cardiac function requiring transplant. The severity of ACHB is illustrated by a global mortality rate of 20% and pacemaker rates of at least 64%, often within the first year of life. This review analyses the main complex and/or unusual clinical situations associated with ACHB, including unusual maternal immunological profiles, infrequent maternal autoimmune diseases, cardiac damage unrelated to AV block, fetal invasive management, late complications after birth, risk of congenital heart block (CHB) in ovodonation and in vitro fertilization techniques, the role of maternal features other than autoimmunity, the influence of the birth order or the risk of CHB in twins and triplets. PMID:26762645

  12. Ambient air pollution and congenital heart defects in Lanzhou, China

    NASA Astrophysics Data System (ADS)

    Jin, Lan; Qiu, Jie; Zhang, Yaqun; Qiu, Weitao; He, Xiaochun; Wang, Yixuan; Sun, Qingmei; Li, Min; Zhao, Nan; Cui, Hongmei; Liu, Sufen; Tang, Zhongfeng; Chen, Ya; Yue, Li; Da, Zhenqiang; Xu, Xiaoying; Huang, Huang; Liu, Qing; Bell, Michelle L.; Zhang, Yawei

    2015-07-01

    Congenital heart defects are the most prevalent type of birth defects. The association of air pollution with congenital heart defects is not well understood. We investigated a cohort of 8969 singleton live births in Lanzhou, China during 2010-2012. Using inverse distance weighting, maternal exposures to particulate matter with diameters ≤10 μm (PM10), nitrogen dioxide (NO2), and sulfur dioxide (SO2) were estimated as a combination of monitoring station levels for time spent at home and in a work location. We used logistic regression to estimate the associations, adjusting for maternal age, education, income, BMI, disease, folic acid intake and therapeutic drug use, and smoking; season of conception, fuel used for cooking and temperature. We found significant positive associations of Patent Ductus Arteriosus (PDA) with PM10 during the 1st trimester, 2nd trimester and the entire pregnancy (OR 1st trimester = 3.96, 95% confidence interval (CI): 1.36, 11.53; OR 2nd trimester = 3.59, 95% CI: 1.57, 8.22; OR entire pregnancy = 2.09, 95% CI: 1.21, 3.62, per interquartile range (IQR) increment for PM10 (IQR = 71.2, 61.6, and 27.4 μg m-3, respectively)), and associations with NO2 during 2nd trimester and the entire pregnancy (OR 2nd trimester = 1.92, 95% CI: 1.11, 3.34; OR entire pregnancy = 2.32, 95% Cl: 1.14, 4.71, per IQR increment for NO2 (IQR = 13.4 and 10.9 μg m-3, respectively)). The associations for congenital malformations of the great arteries and pooled cases showed consistent patterns. We also found positive associations for congenital malformations of cardiac septa with PM10 exposures in the 2nd trimester and the entire pregnancy, and SO2 exposures in the entire pregnancy. Results indicate a health burden from maternal exposures to air pollution, with increased risk of congenital heart defects.

  13. Congenital heart block and maternal systemic lupus erythematosus.

    PubMed Central

    Esscher, E; Scott, J S

    1979-01-01

    The association between infants with congenital heart block (CHB) and the presence or later development of maternal systemic lupus erythematosus or other connective-tissue disease (CTD) was reviewed in 67 cases. In 24 cases CHB was diagnosed at or before birth. Of nine necropsies on affected infants, seven showed endomyocardial fibrosis. The results suggest that one in three mothers who deliver babies with CHB have or will develop CTD. The association is probably explained by placental transfer of a maternal antibody. Awareness of the association may lead to prevention of the birth of children with CHB and better neonatal care of affected children. PMID:455010

  14. 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.

  15. 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.

  16. 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

  17. 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.

  18. 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.

  19. 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

  20. 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.

  1. 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

  2. [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.

  3. 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

  4. 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

  5. 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…

  6. 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.…

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. Evaluation of serum level of tumor necrosis factor-alpha and interleukin-6 in patients with congenital heart disease

    PubMed Central

    Noori, Noor Mohammad; Moghaddam, Maryam Nakhaee; Teimouri, Alireza; Shahramian, Iraj; Keyvani, Behrooz

    2016-01-01

    Background: The objective of the study is to assess the levels of tumor necrosis factor-alpha (TNF-α) and interleukin-10 (IL-10) in patients with congenital heart diseases (CHDs) and control. Patients and Methods: In this case-control study, sixty patients with CHD with ages of 1 month to 15 years and thirty healthy subjects were assessed. All objects measured in height, weight, age, sex, and body mass index (BMI). Patients diagnosed by echocardiography and patients’ blood samples were 3 ml and taken in the catheterization laboratory through catheter and kept for 60 min at a room with normal temperature and separated serum has been held. All samples in compliance with the cold chain carried out to biochemistry laboratory and finally the levels of serum TNF-α and IL-6 were measured by Elisa Kit. Data were analyzed with Statistical Package for Social Sciences version 20. Nonparametric tests by considering 95% confidence interval were applied. Results: The mean of age in cyanotic patients was 4.28 ΁ 3.44 years, a cyanotic was 3.12 ΁ 3.87 years and for the control group was 3.30 ΁ 3.61 years. Comparison of TNF-α (Mann-Whitney U-test = 56.62, P < 0.001), IL-6 (Mann-Whitney U-test = 313.5, P < 0.001), right ventricular (RV) pressure (Mann-Whitney U-test = 27, P < 0.001), pulmonary artery (PA) pressure (Mann-Whitney U-test = 618, P = 0.015), and BMI (Mann-Whitney U-test = 214.5, P < 0.001) in the case and control groups resulted in significant differences. To compare TNF-α (Chi-square = 57.82, P < 0.001), IL-6 (Chi-square = 54.70, P < 0.001), RV pressure (Chi-square = 71.35, P < 0.001), PA pressure (Chi-square = 5.92, P = 00.052), oxygen saturation (Chi-square = 74.70, P < 0.001), and BMI (Chi-square = 34.90, P < 0.001) in cyanotic, acyanotic, and control groups resulted that there were significant differences between these three groups except PA pressure. Conclusion: The findings of this study showed that in patients with CHD, serum levels of TNF-α increased

  12. Evaluation of serum level of tumor necrosis factor-alpha and interleukin-6 in patients with congenital heart disease

    PubMed Central

    Noori, Noor Mohammad; Moghaddam, Maryam Nakhaee; Teimouri, Alireza; Shahramian, Iraj; Keyvani, Behrooz

    2016-01-01

    Background: The objective of the study is to assess the levels of tumor necrosis factor-alpha (TNF-α) and interleukin-10 (IL-10) in patients with congenital heart diseases (CHDs) and control. Patients and Methods: In this case-control study, sixty patients with CHD with ages of 1 month to 15 years and thirty healthy subjects were assessed. All objects measured in height, weight, age, sex, and body mass index (BMI). Patients diagnosed by echocardiography and patients’ blood samples were 3 ml and taken in the catheterization laboratory through catheter and kept for 60 min at a room with normal temperature and separated serum has been held. All samples in compliance with the cold chain carried out to biochemistry laboratory and finally the levels of serum TNF-α and IL-6 were measured by Elisa Kit. Data were analyzed with Statistical Package for Social Sciences version 20. Nonparametric tests by considering 95% confidence interval were applied. Results: The mean of age in cyanotic patients was 4.28 ΁ 3.44 years, a cyanotic was 3.12 ΁ 3.87 years and for the control group was 3.30 ΁ 3.61 years. Comparison of TNF-α (Mann-Whitney U-test = 56.62, P < 0.001), IL-6 (Mann-Whitney U-test = 313.5, P < 0.001), right ventricular (RV) pressure (Mann-Whitney U-test = 27, P < 0.001), pulmonary artery (PA) pressure (Mann-Whitney U-test = 618, P = 0.015), and BMI (Mann-Whitney U-test = 214.5, P < 0.001) in the case and control groups resulted in significant differences. To compare TNF-α (Chi-square = 57.82, P < 0.001), IL-6 (Chi-square = 54.70, P < 0.001), RV pressure (Chi-square = 71.35, P < 0.001), PA pressure (Chi-square = 5.92, P = 00.052), oxygen saturation (Chi-square = 74.70, P < 0.001), and BMI (Chi-square = 34.90, P < 0.001) in cyanotic, acyanotic, and control groups resulted that there were significant differences between these three groups except PA pressure. Conclusion: The findings of this study showed that in patients with CHD, serum levels of TNF-α increased

  13. 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.

  14. Altering hemodynamics leads to congenital heart defects (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Ford, Stephanie M.; McPheeters, Matthew T.; Wang, Yves T.; Gu, Shi; Doughman, Yong Qiu; Strainic, James P.; Rollins, Andrew M.; Watanabe, Michiko; Jenkins, Michael W.

    2016-03-01

    The role of hemodynamics in early heart development is poorly understood. In order to successfully assess the impact of hemodynamics on development, we need to monitor and perturb blood flow, and quantify the resultant effects on morphology. Here, we have utilized cardiac optical pacing to create regurgitant flow in embryonic hearts and OCT to quantify regurgitation percentage and resultant morphology. Embryonic quail in a shell-less culture were optically paced at 3 Hz (well above the intrinsic rate or 1.33-1.67 Hz) on day 2 of development (3-4 weeks human) for 5 minutes. The pacing fatigued the heart and led to a prolonged period (> 1 hour) of increased regurgitant flow. Embryos were kept alive until day 3 (cardiac looping - 4-5 weeks human) or day 8 (4 chambered heart - 8 weeks human) to quantify resultant morphologic changes with OCT. All paced embryos imaged at day 3 displayed cardiac defects. The extent of regurgitant flow immediately after pacing was correlated with cardiac cushion size 24-hours post pacing (p-value < 0.01) with higher regurgitation leading to smaller cushions. Almost all embryos (16/18) surviving to day 8 exhibited congenital heart defects (CHDs) including 11/18 with valve defects, 5/18 with ventricular septal defects and 5/18 with hypoplastic right ventricles. Our data suggests that regurgitant flow leads to smaller cushions, which develop into abnormal valves and septa. Our model produces similar phenotypes as found in our fetal alcohol syndrome and velo-cardio-facial/DiGeorge syndrome models suggesting that hemodynamics plays a role in these syndromes as well. Utilizing OCT and optical pacing to understand hemodynamics in development is an important step towards determining CHD mechanisms and ultimately developing earlier treatments.

  15. The neonate with congenital heart disease: diagnosis and management.

    PubMed

    Chandramouli, B

    1991-01-01

    In the neonate cyanotic lesions as well as acyanotic lesions (left to right shunts and critical obstructions) manifest in several ways and identification of such lesions is critical in this age group. Evaluation of various presenting signs and symptoms along with various investigational modalities available which includes oxygen saturation, echocardiography along with conventional electrocardiography and chest roentgenography and the newer axial views of cineangiocardiography have made it possible to arrive at a precise diagnosis in defining all of the intra and extracardiac anomalies. This allows one to make full assessment of the presenting problem and offer appropriate management. Anatomical correction of severe defects is possible at present time with very little morbidity and mortality.

  16. Zebrafish models in cardiac development and congenital heart birth defects

    PubMed Central

    Tu, Shu; Chi, Neil C.

    2014-01-01

    The zebrafish has become an ideal vertebrate animal system for investigating cardiac development due to its genetic tractability, external fertilization, early optical clarity and ability to survive without a functional cardiovascular system during development. In particular, recent advances in imaging techniques and the creation of zebrafish transgenics now permit the in vivo analysis of the dynamic cellular events that transpire during cardiac morphogenesis. As a result, the combination of these salient features provides detailed insight as to how specific genes may influence cardiac development at the cellular level. In this review, we will highlight how the zebrafish has been utilized to elucidate not only the underlying mechanisms of cardiac development and human congenital heart diseases (CHDs), but also potential pathways that may modulate cardiac regeneration. Thus, we have organized this review based on the major categories of CHDs – structural heart, functional heart, and vascular/great vessel defects, and will conclude with how the zebrafish may be further used to contribute to our understanding of specific human CHDs in the future. PMID:22704690

  17. 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.

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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.

  3. 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.

  4. 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

  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. 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.

  7. 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

  8. 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

  9. The clinical spectrum of autoimmune congenital heart block.

    PubMed

    Brito-Zerón, Pilar; Izmirly, Peter M; Ramos-Casals, Manuel; Buyon, Jill P; Khamashta, Munther A

    2015-05-01

    Autoimmune congenital heart block (CHB) is an immune-mediated acquired disease that is associated with the placental transference of maternal antibodies specific for Ro and La autoantigens. The disease develops in a fetal heart without anatomical abnormalities that could otherwise explain the block, and which is usually diagnosed in utero, but also at birth or within the neonatal period. Autoantibody-mediated damage of fetal conduction tissues causes inflammation and fibrosis and leads to blockage of signal conduction at the atrioventricular (AV) node. Irreversible complete AV block is the principal cardiac manifestation of CHB, although some babies might develop other severe cardiac complications, such as endocardial fibroelastosis or valvular insufficiency, even in the absence of cardiac block. In this Review, we discuss the epidemiology, classification and management of women whose pregnancies are affected by autoimmune CHB, with a particular focus on the autoantibodies associated with autoimmune CHB and how we should test for these antibodies and diagnose this disease. Without confirmed effective preventive or therapeutic strategies and further research on the aetiopathogenic mechanisms, autoimmune CHB will remain a severe life-threatening disorder. PMID:25800217

  10. Advanced echocardiographic imaging of the congenitally malformed heart.

    PubMed

    Black, D; Vettukattil, J

    2013-08-01

    There have been significant advancements in the ability of echocardiography to provide both morphological and functional information in children with congenitally malformed hearts. This progress has come through the development of improved technology such as matrix array probes and software which allows for the off line analysis of images to a high standard. This article focuses on these developments and discusses some newer concepts in advanced echocardiography such is multi-planar reformatting [MPR] and tissue motion annular displacement [TMAD]. Our aim is to discuss important aspects related to the quality and reproducibility of data, to review the most recent published data regarding advanced echocardiography in the malformed heart and to guide the reader to appropriate text for overcoming the technical challenges of using these methods. Many of the technical aspects of image acquisition and post processing have been discussed in recent reviews by the authors and we would urge readers to study these texts to gain a greater understanding [1]. The quality of the two dimensional image is paramount in both strain analysis and three dimensional echocardiography. An awareness of how to improve image quality is vital to acquiring accurate and usable data. Three dimensional echocardiography (3DE) is an attempt to visualise the dynamic morphology of the heart. Although published media is the basis for theoretical knowledge of how to practically acquire images, electronic media [eg.www.3dechocardiography.com] is the only way of visualising the advantages of this technology in real time. It is important to be aware of the limitations of this technology and that much of the data gleaned from using these methods is at a research stage and not yet in regular clinical practice. PMID:23228075

  11. 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

  12. 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.

  13. [Socioeconomic aspects of the increased volume of cardiosurgical treatment of children with congenital heart defects].

    PubMed

    Iaĭtskiĭ, N A; Grinenko, A Ia; Uglov, F G; Gritsenko, V V; Vavilov, N V; Mochalov, O Iu; Doĭnikov, D N; Petrishina, T I

    2001-01-01

    The authors made an analysis of social-economical conditions limiting the possibilities of rendering cardiosurgical care to children. Possible ways are mapped out allowing to increase the amount of operations on children with congenital heart diseases. PMID:11496495

  14. 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

  15. 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.

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. [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.

  2. 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

  3. Pediatric Inpatient Hospital Resource Use for Congenital Heart Defects

    PubMed Central

    Simeone, Regina M.; Oster, Matthew E.; Cassell, Cynthia H.; Armour, Brian S.; Gray, Darryl T.; Honein, Margaret A.

    2015-01-01

    Background Congenital heart defects (CHDs) occur in approximately 8 per 1000 live births. Improvements in detection and treatment have increased survival. Few national estimates of the healthcare costs for infants, children and adolescents with CHDs are available. Methods We estimated hospital costs for hospitalizations using pediatric (0–20 years) hospital discharge data from the 2009 Healthcare Cost and Utilization Project Kids’ Inpatient Database (KID) for hospitalizations with CHD diagnoses. Estimates were up-weighted to be nationally representative. Mean costs were compared by demographic factors and presence of critical CHDs (CCHDs). Results Up-weighting of the KID generated an estimated 4,461,615 pediatric hospitalizations nationwide, excluding normal newborn births. The 163,980 (3.7%) pediatric hospitalizations with CHDs accounted for approximately $5.6 billion in hospital costs, representing 15.1% of costs for all pediatric hospitalizations in 2009. Approximately 17% of CHD hospitalizations had a CCHD, but it varied by age: approximately 14% of hospitalizations of infants, 30% of hospitalizations of patients aged 1 to 10 years, and 25% of hospitalizations of patients aged 11 to 20 years. Mean costs of CHD hospitalizations were higher in infancy ($36,601) than at older ages and were higher for hospitalizations with a CCHD diagnosis ($52,899). Hospitalizations with CCHDs accounted for 26.7% of all costs for CHD hospitalizations, with hypoplastic left heart syndrome, coarctation of the aorta, and tetralogy of Fallot having the highest total costs. Conclusion Hospitalizations for children with CHDs have disproportionately high hospital costs compared with other pediatric hospitalizations, and the 17% of hospitalizations with CCHD diagnoses accounted for 27% of CHD hospital costs. PMID:24975483

  4. 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

  5. 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

  6. Remission of congenital complete heart block without anti-Ro/La antibodies: A case report.

    PubMed

    Mitra, Souvik; Saha, Anindya Kumar; Sardar, Syamal Kumar; Singh, Arun Kumarendu

    2013-07-01

    Anti-Ro/La negative congenital heart block (CHB) is uncommon. We report one such case of CHB, with no associated structural heart disease or maternal autoantibodies. The heart block reverted to sinus rhythm spontaneously at two weeks of age, and the patient remains in sinus rhythm at a one year followup. Whether patients with antibody negative complete heart block have a different clinical course is conjectural.

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. [Comparative evaluation of the cardiac functional reserve in operated and nonoperated congenital heart defect patients].

    PubMed

    Gritsenko, V V; Gavrilenkov, V I; Mochalov, O Iu

    1981-02-01

    The functional cardiac reserve was studied in 26 non-operated and 42 operated patients with congenital heart diseases. The ratio of the maximum utilization of oxygen (VO2 max) to the heart volume (HV) was shown to be an objective quantitative index of the functional cardiac reserve. The authors believe that the value of the functional cardiac reserve may be used for the determination of risk as well as for the assessment of the rehabilitation of the rehabilitation significance of operations in patients with congenital heart diseases. PMID:7233699

  13. 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

  14. Human gene copy number spectra analysis in congenital heart malformations

    PubMed Central

    Mahnke, Donna K.; Struble, Craig A.; Tuffnell, Maureen E.; Stamm, Karl D.; Hidestrand, Mats; Harris, Susan E.; Goetsch, Mary A.; Simpson, Pippa M.; Bick, David P.; Broeckel, Ulrich; Pelech, Andrew N.; Tweddell, James S.; Mitchell, Michael E.

    2012-01-01

    The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical approach permitting CNV gene frequency “spectra” to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = 880). Gains (≥200 kb) and losses (≥100 kb) were determined over 100 CHD risk genes and compared using a Barnard exact test. Six subphenotypes showed significant enrichment (P ≤ 0.05), including aortic stenosis (valvar), atrioventricular canal (partial), atrioventricular septal defect with tetralogy of Fallot, subaortic stenosis, tetralogy of Fallot, and truncus arteriosus. Furthermore, CNV gene frequency spectra were enriched (P ≤ 0.05) for losses at: FKBP6, ELN, GTF2IRD1, GATA4, CRKL, TBX1, ATRX, GPC3, BCOR, ZIC3, FLNA and MID1; and gains at: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, HRAS, GATA6 and RUNX1. Of CHD subjects, 14% had causal chromosomal abnormalities, and 4.3% had likely causal (significantly enriched), large, rare CNVs. CNV frequency spectra combined with precision phenotyping may lead to increased molecular understanding of etiologic pathways. PMID:22318994

  15. Congenital Heart Defects and Receipt of Special Education Services

    PubMed Central

    Riehle-Colarusso, Tiffany; Autry, Andrew; Razzaghi, Hilda; Boyle, Coleen A.; Mahle, William T.; Van Naarden Braun, Kim; Correa, Adolfo

    2015-01-01

    BACKGROUND We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. METHODS Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992–2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. RESULTS Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4–1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8–5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8–5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2–3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3–2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1–1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. CONCLUSIONS Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. PMID:26283775

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. 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

  1. 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

  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. 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

  4. 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.

  5. 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

  6. 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

  7. [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.

  8. 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.

  9. 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.

  10. 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.

  11. Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate.

    PubMed

    Shu, X; Zou, C; Shen, Z

    2013-12-01

    A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported. PMID:24778570

  12. 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.

  13. The Congenital Heart Surgeons Society Datacenter: unique attributes as a research organization.

    PubMed

    Caldarone, Christopher A; Williams, William G

    2010-01-01

    Over the last 25 years, the Congenital Heart Surgeons Society (CHSS) has evolved from an informal club to a mature organization. A central feature of the CHSS has been dedication to evaluating outcomes of congenital heart surgery across a wide array of clinical diagnoses. These research activities have been orchestrated through the CHSS Datacenter, which has developed a unique organizational structure that has strengths and weaknesses in comparison to other research organizational structures (e.g., prospective randomized trials, registries, etc). This review will highlight the unique attributes of the CHSS Datacenter with emphasis on the Datacenter's strengths and weaknesses in comparison to other organizational structures.

  14. 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.

  15. Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report.

    PubMed

    Dinlen, N; Zenciroğlu, A; Dilli, D; Aydin, B; Beken, S; Okumuş, N

    2014-01-01

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.

  16. 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.

  17. Ethanol exposure alters early cardiac function in the looping heart: a mechanism for congenital heart defects?

    PubMed

    Karunamuni, Ganga; Gu, Shi; Doughman, Yong Qiu; Peterson, Lindsy M; Mai, Katherine; McHale, Quinn; Jenkins, Michael W; Linask, Kersti K; Rollins, Andrew M; Watanabe, Michiko

    2014-02-01

    Alcohol-induced congenital heart defects are frequently among the most life threatening and require surgical correction in newborns. The etiology of these defects, collectively known as fetal alcohol syndrome, has been the focus of much study, particularly involving cellular and molecular mechanisms. Few studies have addressed the influential role of altered cardiac function in early embryogenesis because of a lack of tools with the capability to assay tiny beating hearts. To overcome this gap in our understanding, we used optical coherence tomography (OCT), a nondestructive imaging modality capable of micrometer-scale resolution imaging, to rapidly and accurately map cardiovascular structure and hemodynamics in real time under physiological conditions. In this study, we exposed avian embryos to a single dose of alcohol/ethanol at gastrulation when the embryo is sensitive to the induction of birth defects. Late-stage hearts were analyzed using standard histological analysis with a focus on the atrio-ventricular valves. Early cardiac function was assayed using Doppler OCT, and structural analysis of the cardiac cushions was performed using OCT imaging. Our results indicated that ethanol-exposed embryos developed late-stage valvuloseptal defects. At early stages, they exhibited increased regurgitant flow and developed smaller atrio-ventricular cardiac cushions, compared with controls (uninjected and saline-injected embryos). The embryos also exhibited abnormal flexion/torsion of the body. Our evidence suggests that ethanol-induced alterations in early cardiac function have the potential to contribute to late-stage valve and septal defects, thus demonstrating that functional parameters may serve as early and sensitive gauges of cardiac normalcy and abnormalities.

  18. 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

  19. 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

  20. [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

  1. Nomenclature and databases - the past, the present, and the future : a primer for the congenital heart surgeon.

    PubMed

    Jacobs, Jeffrey Phillip; Mavroudis, Constantine; Jacobs, Marshall Lewis; Maruszewski, Bohdan; Tchervenkov, Christo I; Lacour-Gayet, Francois G; Clarke, David Robinson; Gaynor, J William; Spray, Thomas L; Kurosawa, Hiromi; Stellin, Giovanni; Ebels, Tjark; Bacha, Emile A; Walters, Henry L; Elliott, Martin J

    2007-01-01

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for congenital heart disease. Five areas will be reviewed: (1) common language = nomenclature, (2) mechanism of data collection (database or registry) with an established uniform core data set, (3) mechanism of evaluating case complexity, (4) mechanism to ensure and verify data completeness and accuracy, and (5) collaboration between medical subspecialties. During the 1990s, both the Society of Thoracic Surgeons (STS) and the European Association for Cardiothoracic Surgery (EACTS) created congenital heart surgery outcomes databases. Beginning in 1998, the EACTS and STS collaborated in the work of the International Congenital Heart Surgery Nomenclature and Database Project. By 2000, a common congenital heart surgery nomenclature, along with a common core minimal data set, were adopted by the EACTS and the STS 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 (ISNPCHD). The working component of ISNPCHD is the International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, also known as the Nomenclature Working Group (NWG). By 2005, the NWG cross-mapped the EACTS-STS nomenclature with the European Paediatric Cardiac Code of the Association for European Paediatric Cardiology and created the International Paediatric and Congenital Cardiac Code (IPCCC) ( http://www.IPCCC.NET ). This common nomenclature (IPCCC), and the common minimum database data set created by the International Congenital Heart Surgery Nomenclature and Database Project, are now utilized by both EACTS and STS; since 1998, this nomenclature and database have been used by both the STS

  2. 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

  3. 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.

  4. 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

  5. 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 ...

  6. [Factors determining the degree of physical work capacity in patients operated on for congenital heart defects].

    PubMed

    Gritsenko, V V; Gavrilenkov, V I; Mochalov, O Iu

    1983-04-01

    The physical working capacity was investigated in 25 men operated on for congenital heart disease and in 12 healthy men not accustomed to heavy physical load. It was shown that the main factor responsible for lower physical efficiency of the operated patients was their less pronounced ability to increase the minute circulation volume under conditions of the maximum physical load. PMID:6868283

  7. 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…

  8. [Pulmonary arterial hypertension in congenital heart defects with shunt: a heterogeneous and complex constellation].

    PubMed

    Zimmermann, R; Schranz, D; Ewert, P; Kaemmerer, H

    2013-06-01

    It will be explained how pulmonary vascular disease can develop in congenital heart defects with primary left-to-right shunt across the different ages and stages of development, with and without surgical, interventional or medical treatment. Furthermore it will be discussed, in which specific stages of pulmonary vascular disease "advanced therapy" can be used.

  9. 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…

  10. 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,…

  11. 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.

  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. 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

  14. 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.

  15. 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.

  16. Mountain climbing of the grown-up patient with non-corrected congenital heart defect.

    PubMed

    Haponiuk, Ireneusz; Gierat-Haponiuk, Katarzyna; Szalewska, Dominika; Niedoszytko, Piotr; Bakuła, Stanisław; Chojnicki, Maciej

    2016-03-01

    Congenital heart defects (CHD) are the cause of reduced physical performance. The presence of congenital abnormalities in the heart of grown-up patients contributes to excessive hypo-kinesia. We present endurance parameters and a personalized comprehensive cardiac rehabilitation program before an extreme mountain climbing of a 27-year-old patient with an uncorrected ventricular septal defect (VSD). A 26-year-old female patient with an uncorrected congenital VSD was admitted to the department of cardiac rehabilitation before the planned high-mountain expedition. Professional preparation and assessment of actual exercise capacity was performed before scheduled extreme climbing. We conclude that physical activity associated with a heavy load in people with uncorrected CHD who have not developed pulmonary hypertension and reverse right-to-left flow seems to be safe, while participation of grown-up patients with congenital heart disease (GUCH) in extreme mountain climbing requires special preparation, individually designed endurance training and education program, conducted by the team of professionals in specialist centers. PMID:27212986

  17. Mountain climbing of the grown-up patient with non-corrected congenital heart defect

    PubMed Central

    Gierat-Haponiuk, Katarzyna; Szalewska, Dominika; Niedoszytko, Piotr; Bakuła, Stanisław; Chojnicki, Maciej

    2016-01-01

    Congenital heart defects (CHD) are the cause of reduced physical performance. The presence of congenital abnormalities in the heart of grown-up patients contributes to excessive hypo-kinesia. We present endurance parameters and a personalized comprehensive cardiac rehabilitation program before an extreme mountain climbing of a 27-year-old patient with an uncorrected ventricular septal defect (VSD). A 26-year-old female patient with an uncorrected congenital VSD was admitted to the department of cardiac rehabilitation before the planned high-mountain expedition. Professional preparation and assessment of actual exercise capacity was performed before scheduled extreme climbing. We conclude that physical activity associated with a heavy load in people with uncorrected CHD who have not developed pulmonary hypertension and reverse right-to-left flow seems to be safe, while participation of grown-up patients with congenital heart disease (GUCH) in extreme mountain climbing requires special preparation, individually designed endurance training and education program, conducted by the team of professionals in specialist centers. PMID:27212986

  18. The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2016 Update on Research.

    PubMed

    Jacobs, Marshall L; Jacobs, Jeffrey P; Pasquali, Sara K; Hill, Kevin D; Hornik, Christoph; O'Brien, Sean M; Shahian, David M; Habib, Robert H; Edwards, Fred H

    2016-09-01

    The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS CHSD) is the largest congenital and pediatric cardiac surgical clinical data registry in the world. With more than 400,000 total operations from nearly all centers performing pediatric and congenital heart operations in North America, the STS CHSD is an unparalleled platform for clinical investigation, outcomes research, and quality improvement activities in this subspecialty. In 2015, several major original publications reported analyses of data in the CHSD pertaining to specific diagnostic and procedural groups, age-defined cohorts, or the entire population of patients in the database. Additional publications reported the most recent development, evaluation, and application of metrics for quality measurement and reporting of pediatric and congenital heart operation outcomes. This use of the STS CHSD for outcomes research and for quality measurement continues to expand as database participation and the available wealth of data in it continue to grow. This article reviews outcomes research and quality improvement articles published in 2015 based on STS CHSD data. PMID:27492669

  19. The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2016 Update on Research.

    PubMed

    Jacobs, Marshall L; Jacobs, Jeffrey P; Pasquali, Sara K; Hill, Kevin D; Hornik, Christoph; O'Brien, Sean M; Shahian, David M; Habib, Robert H; Edwards, Fred H

    2016-09-01

    The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS CHSD) is the largest congenital and pediatric cardiac surgical clinical data registry in the world. With more than 400,000 total operations from nearly all centers performing pediatric and congenital heart operations in North America, the STS CHSD is an unparalleled platform for clinical investigation, outcomes research, and quality improvement activities in this subspecialty. In 2015, several major original publications reported analyses of data in the CHSD pertaining to specific diagnostic and procedural groups, age-defined cohorts, or the entire population of patients in the database. Additional publications reported the most recent development, evaluation, and application of metrics for quality measurement and reporting of pediatric and congenital heart operation outcomes. This use of the STS CHSD for outcomes research and for quality measurement continues to expand as database participation and the available wealth of data in it continue to grow. This article reviews outcomes research and quality improvement articles published in 2015 based on STS CHSD data.

  20. Mountain climbing of the grown-up patient with non-corrected congenital heart defect.

    PubMed

    Haponiuk, Ireneusz; Gierat-Haponiuk, Katarzyna; Szalewska, Dominika; Niedoszytko, Piotr; Bakuła, Stanisław; Chojnicki, Maciej

    2016-03-01

    Congenital heart defects (CHD) are the cause of reduced physical performance. The presence of congenital abnormalities in the heart of grown-up patients contributes to excessive hypo-kinesia. We present endurance parameters and a personalized comprehensive cardiac rehabilitation program before an extreme mountain climbing of a 27-year-old patient with an uncorrected ventricular septal defect (VSD). A 26-year-old female patient with an uncorrected congenital VSD was admitted to the department of cardiac rehabilitation before the planned high-mountain expedition. Professional preparation and assessment of actual exercise capacity was performed before scheduled extreme climbing. We conclude that physical activity associated with a heavy load in people with uncorrected CHD who have not developed pulmonary hypertension and reverse right-to-left flow seems to be safe, while participation of grown-up patients with congenital heart disease (GUCH) in extreme mountain climbing requires special preparation, individually designed endurance training and education program, conducted by the team of professionals in specialist centers.

  1. 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.

  2. Ultrasound findings in fetal congenital heart block associated with maternal anti-Ro/SSA and Anti-La/SSB antibodies.

    PubMed

    Lai, Jasmine; Clark, Toshi J; Tan, Justin H; Delaney, Shani; Jolley, Jennifer A

    2015-03-01

    We present the sonographic features of a second-trimester fetus diagnosed with a bradyarrhythmia at 19 weeks' gestation. The mother carried a diagnosis of Sjögren syndrome, including the presence of SSA and SSB antibodies. Ultrasound M-mode and fetal echocardiogram revealed the etiology of the bradycardia to be a complete fetal congenital heart block, likely due to transplacental passage of autoimmune anti-Ro/SSA and anti-La/SSB antibodies. Consequential to the congenital heart block, the fetus developed hydrops fetalis at 21 weeks' gestational age. We discuss the 2 major etiologies of congenital heart block and the implications in subsequent pregnancies.

  3. 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.

  4. 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.

  5. Congenital heart surgery databases around the world: do we need a global database?

    PubMed

    Jacobs, Jeffrey Phillip; Maruszewski, Bohdan; Kurosawa, Hiromi; Jacobs, Marshall Lewis; Mavroudis, Constantine; Lacour-Gayet, Francois G; Tchervenkov, Christo I; Walters, Hal; Stellin, Giovanni; Ebels, Tjark; Tsang, Victor T; Elliott, Martin J; Murakami, Arata; Sano, Shunji; Mayer, John E; Edwards, Fred H; Quintessenza, James Anthony

    2010-01-01

    The question posed in the title of this article is: "Congenital Heart Surgery Databases Around the World: Do We Need a Global Database?" The answer to this question is "Yes and No"! Yes--we need to create a global database to track the outcomes of patients with pediatric and congenital heart disease. No--we do not need to create a new "global database." Instead, we need to create a platform that allows for the linkage of currently existing continental subspecialty databases (and continental subspecialty databases that might be created in the future) that will allow for the seamless sharing of multi-institutional longitudinal data across temporal, geographical, and subspecialty boundaries. This review article will achieve the following objectives: (A) Consider the current state of analysis of outcomes of treatments for patients with congenitally malformed hearts. (B) Present some principles that might make it possible to achieve life-long longitudinal monitoring and follow-up. (C) Describe the rationale for the creation of a Global Federated Multispecialty Congenital Heart Disease Database. (D) Propose a methodology for the creation of a Global Federated Multispecialty Congenital Heart Disease Database that is based on linking together currently existing databases without creating a new database. To perform meaningful multi-institutional analyses, any database must incorporate the following six essential elements: (1) Use of a common language and nomenclature. (2) Use of a database with an established uniform core dataset for collection of information. (3) Incorporation of a mechanism to evaluate the complexity of cases. (4) Implementation of a mechanism to assure and verify the completeness and accuracy of the data collected. (5) Collaboration between medical and surgical subspecialties. (6) Standardization of protocols for life-long longitudinal follow-up. Analysis of outcomes must move beyond recording 30-day or hospital mortality, and encompass longer

  6. Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

    PubMed Central

    Chung, Ill-Min; Rajakumar, Govindasamy

    2016-01-01

    Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation. Research over the past two decades has established firmly the role of genetics in the development of these congenital defects. While syndromic CHDs are more straightforward, non-syndromic CHDs are usually characterized by multiple mutations that affect intricate inter-connected developmental pathways. Knock-out and gene expression studies in mice and other genetic models have been performed to elucidate the roles of these implicated genes. Functional analysis has not been able to resolve the complete picture, as increasingly more downstream effects are continuously being assigned to CHD mutant factors. NKX2-5, a cardiac transcription factor, has received much attention for its role in cardiac dysmorphogenesis. Approximately 50 different mutations in this gene have been identified to date, and only a few have been functionally characterized. The mutant NKX2-5 factor can regulate a number of off-targets downstream to facilitate CHD development. This review summarizes the genetic etiology of congenital heart defects and emphasizes the need for NKX2-5 mutation screening. PMID:26805889

  7. The development of a congenital heart programme quality dashboard to promote transparent reporting of outcomes.

    PubMed

    Anand, Vijay; Cave, Dominic; McCrady, Heather; Al-Aklabi, Mohammed; Ross, David B; Rebeyka, Ivan M; Adatia, Ian

    2015-12-01

    In 2001, the Institute of Medicine identified healthcare transparency as a necessity for re-designing a quality healthcare system; however, despite widespread calls for publicly available transparent data, the goal remains elusive. The transparent reporting of outcome data and the results of congenital heart surgery is critical to inform patients and families who have both the wish and the ability to choose where care is provided. Indeed, in an era where data and means of communication of data have never been easier, the paucity of transparent data reporting is paradoxical. We describe the development of a quality dashboard used to inform staff, patients, and families about the outcomes of congenital heart surgery at the Stollery Children's Hospital. PMID:26675607

  8. The Congenital Heart Surgeons' Society Registry of Anomalous Aortic Origin of a Coronary Artery: an update.

    PubMed

    Brothers, Julie A; Gaynor, J William; Jacobs, Jeffrey P; Poynter, Jeffrey A; Jacobs, Marshall L

    2015-12-01

    The anomalous aortic origin of a coronary artery from the wrong sinus of Valsalva with an interarterial, intramural, and/or intraconal course is a relatively rare congenital defect of the heart that may be associated with an increased risk of ischaemia of the myocardium and sudden death, notably in children and young adults. Data are limited regarding stratification of risk and long-term outcomes of these patients. In 2009, the Anomalous Coronary Artery Working Group formed the Congenital Heart Surgeons' Society Registry of Anomalous Aortic Origin of a Coronary Artery to obtain information on large numbers of young patients with anomalous aortic origin of a coronary artery with the goal to better understand the natural and surgical history of this anomaly as well as to develop evidence-based treatment and management guidelines. In this report, we describe the data we have collected from the registry and the current state of the registry.

  9. 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

  10. 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

  11. [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.

  12. 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.

  13. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    PubMed

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  14. 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

  15. 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.

  16. 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.

  17. Maternal systemic lupus erythematosus associated with fetal congenital heart block. A case report.

    PubMed

    Moore, P J

    1981-08-15

    Congenital heart block (CHB) is a rare cause of fetal bradycardia and, if misinterpreted as fetal distress, may lead to detrimental obstetric intervention. There is a definite association between systemic lupus erythematosus (SLE), as well as other connective tissue disorders in the mother and CHB in her offspring. A case of CHB in the child of a mother with asymptomatic SLE is reported and a useful diagnostic investigation, the sonar-atropine test, is described.

  18. 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.

  19. A congenital malformation of the systemic heart complex in Sepia officinalis L. (Cephalopoda)

    NASA Astrophysics Data System (ADS)

    Schipp, R.; von Boletzky, S.; Jakobs, P.; Labourg, P. J.

    1998-03-01

    In semi-adult Sepia officinalis L. (Cephalopoda) from the Bay of Arcachon (France) a congenital malformation of the systemic heart is described by macro-and microscopical methods. It concerns an atypical doubling of the site of insertion at the cephalic aorta at the apical ventricle. Its comparison with the paired anlagen of the systemic heart complex in normal embryogenesis and the central circulatory system of Nautilus gives rise to interpret it as a form of atavism. The possible causal role of mutagenic antifoulings is discussed.

  20. 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.

  1. 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

  2. Congenital heart block with hydrops fetalis treated with high-dose dexamethasone; a case report.

    PubMed

    Chua, S; Ostman-Smith, I; Sellers, S; Redman, C W

    1991-11-26

    A 32-year-old woman with systemic lupus erythematosus was found to have a fetus with heart block and fetal ascites at 23 weeks gestation. Treatment with high-dose corticosteroids ameliorated the early signs of heart failure, although the fetal heart rate gradually fell from 48 beats/min to 42 beats/min by 34 weeks. Sudden deterioration of the fetal state occurred at 35 weeks, and this only partially responded to digitalisation. Neonatal death occurred on Day 18 from the consequences of severe birth asphyxia. The relationship and pathogenesis of anti-Ro antibodies, congenital heart block and hydrops fetals are discussed, together with the in utero management of this condition. PMID:1765211

  3. 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.

  4. [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

  5. Linking the Congenital Heart Surgery Databases of the Society of Thoracic Surgeons and the Congenital Heart Surgeons’ Society: Part 1—Rationale and Methodology

    PubMed Central

    Jacobs, Jeffrey P.; Pasquali, Sara K.; Austin, Erle; Gaynor, J. William; Backer, Carl; Hirsch-Romano, Jennifer C.; Williams, William G.; Caldarone, Christopher A.; McCrindle, Brian W.; Graham, Karen E.; Dokholyan, Rachel S.; Shook, Gregory J.; Poteat, Jennifer; Baxi, Maulik V.; Karamlou, Tara; Blackstone, Eugene H.; Mavroudis, Constantine; Mayer, John E.; Jonas, Richard A.; Jacobs, Marshall L.

    2014-01-01

    Purpose The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) is the largest Registry in the world of patients who have undergone congenital and pediatric cardiac surgical operations. The Congenital Heart Surgeons’ Society Database (CHSS-D) is an Academic Database designed for specialized detailed analyses of specific congenital cardiac malformations and related treatment strategies. The goal of this project was to create a link between the STS-CHSD and the CHSS-D in order to facilitate studies not possible using either individual database alone and to help identify patients who are potentially eligible for enrollment in CHSS studies. Methods Centers were classified on the basis of participation in the STS-CHSD, the CHSS-D, or both. Five matrices, based on CHSS inclusionary criteria and STS-CHSD codes, were created to facilitate the automated identification of patients in the STS-CHSD who meet eligibility criteria for the five active CHSS studies. The matrices were evaluated with a manual adjudication process and were iteratively refined. The sensitivity and specificity of the original matrices and the refined matrices were assessed. Results In January 2012, a total of 100 centers participated in the STS-CHSD and 74 centers participated in the CHSS. A total of 70 centers participate in both and 40 of these 70 agreed to participate in this linkage project. The manual adjudication process and the refinement of the matrices resulted in an increase in the sensitivity of the matrices from 93% to 100% and an increase in the specificity of the matrices from 94% to 98%. Conclusion Matrices were created to facilitate the automated identification of patients potentially eligible for the five active CHSS studies using the STS-CHSD. These matrices have a sensitivity of 100% and a specificity of 98%. In addition to facilitating identification of patients potentially eligible for enrollment in CHSS studies, these matrices will allow (1) estimation of

  6. 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.

  7. 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

  8. Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

    PubMed

    Balasubramanian, M; Shield, J P H; Acerini, C L; Walker, J; Ellard, S; Marchand, M; Polak, M; Vaxillaire, M; Crolla, J A; Bunyan, D J; Mackay, D J G; Temple, I K

    2010-02-01

    Congenital pancreatic hypoplasia is a rare cause of neonatal diabetes. We report on a series of three patients with pancreatic agenesis and congenital heart defects. All had abdominal scan evidence of pancreatic agenesis. In addition, Patient 1 had a ventricular septal defect, patent ductus arteriosus and pulmonary artery stenosis; Patient 2 had a truncus arteriosus and Patient 3 had tetralogy of Fallot. Two of the three patients have developmental delay. All three patients were isolated cases within the family. Investigations included sequencing of GCK, ABCC8, IPF1, NEUROD1, PTF1A, HNF1B, INS, ISL1, NGN3, HHEX, G6PC2, TCF7L2, SOX4, FOXP3 (Patients 1 and 2), GATA4 and KCNJ11 genes (all three patients), but no mutations were found. Genetic investigation to exclude paternal UPD 6, methylation aberrations and duplications of 6q24 was also negative in all three. 22q11 deletion was excluded in all three patients. Array CGH in Patient (1) showed a approximately 250 kb, paternally inherited duplication of chromosome 12q [arr cgh 12q24.33 (B35:CHR12:131808577-132057649++) pat], not found in the other two patients. Permanent neonatal diabetes mellitus due to pancreatic hypoplasia with congenital heart defects has been reported before and may represent a distinct condition. We discuss this rare association and review previously reported literature. PMID:20082465

  9. Pediatric and congenital heart transplant: twenty-year experience in a tertiary Brazilian Hospital

    PubMed Central

    Miana, Leonardo Augusto; Azeka, Estela; Canêo, Luiz Fernando; Turquetto, Aída Luisa; Tanamati, Carla; Penha, Juliano Gomes; Cauduro, Alexandre; Jatene, Marcelo Biscegli

    2014-01-01

    Introduction Cardiac transplantation remains the gold standard for end-stage cardiomyopathies and congenital heart defects in pediatric patients. Objective This study aims to report on 20 years of experience since the first case and evaluate our results. Methods We conducted a retrospective analysis of the database and outpatient follow-up. Between October 1992 and April 2012, 109 patients underwent 114 transplants. 51.8% of them being female. The age of patients ranged from 12 days to 21 years with a mean of 8.8±5.7 years and a median of 5.2 years. The underlying diagnosis was dilated cardiomyopathy in 61.5%, congenital heart disease in 26.6% and restrictive cardiomyopathy in 11.9%. All patients above 17 years old had congenital heart disease. Results Survival rate at 30 days, 1, 5, 10, 15, and 20 years were 90.4%, 81.3%, 70.9%, 60.5%, 44.4% and 26.7%, respectively. Mean cold ischemic time was 187.9 minutes and it did not correlate with mortality (P>0.05). Infectious complications and rejection episodes were the most common complications (P<0.0001), occurring, respectively, in 66% and 57.4% of the survivors after 10 years. There was no incidence of graft vascular disease and lymphoproliferative disease at year one, but they affected, respectively, 7.4% and 11% of patients within 10 years. Conclusion Twenty-year pediatric heart transplant results at our institution were quite satisfactory and complication rates were acceptable. PMID:25372904

  10. 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

  11. 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.

  12. 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

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. Physical activity in patients with grown-up congenital heart defects after comprehensive cardiac rehabilitation

    PubMed Central

    Haponiuk, Ireneusz; Jaworski, Radosław; Chojnicki, Maciej; Szalewska, Dominika; Leszczyńska, Katarzyna; Bakuła, Stanisław

    2014-01-01

    Introduction The group of grown-up patients with congenital heart defects (grown-up congenital heart – GUCH) complains of a number of specific medical and non-medical problems. The presented program of comprehensive cardiac rehabilitation (CCR-GUCH), dedicated to the above mentioned group, can potentially improve the physical activity of GUCH patients. Aim The aim of the study was to assess the effect of the comprehensive cardiac rehabilitation program on the physical activity of GUCH patients. Material and methods The invitation to take part in the CCR-GUCH program was addressed to a group of 57 patients (mean age: 23.7 ± 4.1 years) who had undergone the surgical correction of ventricular septal defects (VSD) or atrial septal defects (ASD) at least 12 months earlier. The patients were divided into two groups: A – patients undergoing rehabilitation, and B – patients who did not participate in the program. The patients were initially examined using functional and stress tests, and the program of comprehensive cardiac rehabilitation was started in group A. After 30 days, the patients from both groups underwent further testing using the same methods as during the initial evaluation. Results After one month of rehabilitation, the physical activity parameters of patients participating in the CCR-GUCH program (group A) were significantly better than those observed among non-participants (group B). Conclusions The introduction of the comprehensive rehabilitation program improves the physical activity and, consequently, the quality of life of GUCH patients. The CCR-GUCH program appears to be a justified supplement to holistic care in the late rehabilitation of patients after the surgical correction of congenital heart defects. PMID:26336469

  18. 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

  19. 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.

  20. 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

  1. [Elasticity of the lungs under physical loading in congenital heart defect patients before and after surgery].

    PubMed

    Gritsenko, V I; Gavrilenko, V I; Eremeeva, M I; Mochalov, O Iu

    1982-03-01

    Under conditions of an increasing physical exercise from 25 to 100 watts the distensibility of lungs (CL) was investigated in 18 non-operated and 33 operated patients with a congenital heart disease. The decrease of CL was more pronounced in the group of non-operated patients. Changes in CL were found to depend on the blood filling of the vascular bed of the lungs. The determination of CL under an increasing physical exercise may be used for the estimation of the functional capacity of the pulmonary ventilatory apparatus. PMID:7080391

  2. [Physical and occupational work capacity of surgical patients with pale-type congenital heart defects].

    PubMed

    Gritsenko, V V; Likhnitskaia, I I; Efanova, S A; Gavrilenkov, V I; Mochalov, O Iu

    1984-10-01

    A comparative assessment of energy losses and functional shifts in the system of circulation and respiration in various types of the professional activity in 22 patients 14,7 +/- 1,38 years after successful radical operations for the open arterial duct, defects of interatrial and interventricular septa, 64 healthy people and 12 nonoperated patients with similar congenital heart diseases was made. The patients subjected to timely radical operations were shown to possess working capacity and ability. They can fulfill a professional work with light and average strain under systematic control. PMID:6516151

  3. 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

  4. 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.

  5. Mothers' lived experiences of support when living with young children with congenital heart defects

    PubMed Central

    Bruce, Elisabeth; Lilja, Catrine; Sundin, Karin

    2014-01-01

    Purpose The purpose of this study was to illuminate the meanings of support as disclosed by mothers of children with congenital heart defects (CHD). Design and Method Narrative interviews were conducted with 10 mothers of children with CHD. A phenomenological-hermeneutic method was used for interpretation of the transcribed interviews. Results The comprehensive understanding of mothers' lived experiences of support emerged as the experiences of receiving good support, receiving “poor support,” and absence of support. Practice Implications Mothers receiving person-centered and family-centered care feel more supported and are more likely to adapt to the stresses of parenting a child with CHD. PMID:24124764

  6. Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects.

    PubMed

    Vincentz, Joshua W; Barnes, Ralston M; Firulli, Anthony B

    2011-06-01

    Almost 15 years of careful study have established the related basic Helix-Loop-Helix (bHLH) transcription factors Hand1 and Hand2 as critical for heart development across evolution. Hand factors make broad contributions, revealed through animal models, to the development of multiple cellular lineages that ultimately contribute to the heart. They perform critical roles in ventricular cardiomyocyte growth, differentiation, morphogenesis, and conduction. They are also important for the proper development of the cardiac outflow tract, epicardium, and endocardium. Molecularly, they function both through DNA binding and through protein-protein interactions, which are regulated transcriptionally, posttranscriptionally by microRNAs, and posttranslationally through phosphoregulation. Although direct Hand factor transcriptional targets are progressively being identified, confirmed direct targets of Hand factor transcriptional activity in the heart are limited. Identification of these targets will be critical to model the mechanisms by which Hand factor bHLH interactions affect developmental pathways. Improved understanding of Hand factor-mediated transcriptional cascades will be necessary to determine how Hand factor dysregulation translates to human disease phenotypes. This review summarizes the insight that animal models have provided into the regulation and function of these factors during heart development, in addition to the recent findings that suggest roles for HAND1 and HAND2 in human congenital heart disease.

  7. Congenital Hyperferritinemia Diagnosed in A 2 Month Old-A Case Report from India

    PubMed Central

    Kerketta, Joshi Anand

    2012-01-01

    Background In clinical medicine, ferritin is predominantly utilized as a serum marker of total body iron stores. In cases of iron deficiency and overload, serum ferritin serves a critical role in both diagnosis and management. Elevated serum and tissue ferritin are linked to coronary artery disease, malignancy, and poor outcomes following stem cell transplantation. Ferritin is directly implicated in less common but potentially devastating human diseases including sideroblastic anemias, neurodegenerative disorders, and hemophagocytic syndrome. Method We report a case of congenital hyperferritinemia with serum iron within reference range, along with bronchopneumonia, acyanotic congenital heart disease, anemia, hypocalcaemia and dysmorphism in a 2 month old baby. Symptomatic treatment was given. Result The baby was discharged after 7 days. In a stable condition and having gained some weight.He was diagnosed as a case of congenital hyperferritinemia as C reactive protein levels normalized but ferritin levels remained high and A37C mutation within the iron-responsive element of L-ferritin was detected. He was born to consanguineous parents, there was history of cataract in the family and his mother also had high serum ferritin levels. Conclusion This case is an example of the detection of a rare genetic disorder in a child admitted with apparently innocuous symptoms of fever and inflammation. Our case underlines the importance of monitoring ferritin levels, along with other signs of inflammation in order to differentiate congenital hyperferritinemia from inflammatory cause.

  8. Heart MRI

    MedlinePlus

    Magnetic resonance imaging - cardiac; Magnetic resonance imaging - heart; Nuclear magnetic resonance - cardiac; NMR - cardiac; MRI of the heart; Cardiomyopathy - MRI; Heart failure - MRI; Congenital heart disease - MRI

  9. 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.

  10. 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

  11. Associations between chromosomal anomalies and congenital heart defects: a database search.

    PubMed

    van Karnebeek, C D; Hennekam, R C

    1999-05-21

    Recent technical advances in molecular biology and cytogenetics, as well as a more developmental approach to congenital heart disorders (CHDs), have led to considerable progress in our understanding of their pathogenesis, especially of the important causative role of genetic factors. The complex embryology of the heart suggests the involvement of numerous genes, and hence, numerous chromosomal loci, such as the recently identified 22q11, in normal cardiomorphogenesis. In order to identify other loci, the Human Cytogenetics DataBase was searched for all chromosome anomalies associated with CHD. Through the application of several (arbitrary) criteria we have selected associations occurring so frequently that they may not be forfuituous, suggesting assignment of a gene or genes responsible for specific CHDs to certain chromosome regions. The results of this study may be a first step in the detection of specific chromosome defects responsible for CHD, which will be useful in daily patient care and may provide clues for further cytogenetic and molecular studies.

  12. Congenital heart malformations in the first year of life--a necropsy study.

    PubMed Central

    Hegerty, A S; Anderson, R H; Ho, S Y

    1985-01-01

    The hearts of 291 babies with congenital heart disease who died before the age of one were examined systematically by sequential segmental analysis to determine the lesions that were present. There was an abnormal connection between the cardiac segments in one third of cases. Patient ductus arteriosus, which is usually a common defect, was not an important finding at necropsy, whereas common arterial trunk (a rare defect) was found in 10%. The clinical and necropsy incidence of complete transposition was similar to that reported in earlier studies. The incidence of some lesions present at necropsy (for example Fallot's tetralogy) has altered over the past 10 years. A decline in the frequency with which a lesion is detected at necropsy may indicate advances in treatment or differences in classification. The presence of additional lesions influences the prognosis and subcategorisation within the major defect groupings gave some insight into the cause of death in many of the cases. Images PMID:4074590

  13. 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

  14. Nutrition Support for Children Undergoing Congenital Heart Surgeries: A Narrative Review.

    PubMed

    Wong, Judith J M; Cheifetz, Ira M; Ong, Chengsi; Nakao, Masakazu; Lee, Jan Hau

    2015-07-01

    Energy imbalance in infants and children with congenital heart disease (CHD) is common and influenced by age, underlying cardiac diagnoses, and presence or absence of congestive heart failure. During the surgical hospitalization period, these children are prone to nutritional deterioration due to stress of surgery, anesthetic/perfusion techniques, and postoperative care. Poor nutrition is associated with increased perioperative morbidity and mortality. This review aims to examine various aspects of nutrition in critically ill children with CHD, including (1) energy expenditure, (2) perioperative factors that contribute to energy metabolism, (3) bedside practices that are potentially able to optimize nutrient delivery, and (4) medium- to long-term impact of energy balance on clinical outcomes. We propose a nutrition algorithm to optimize nutrition of these children in the perioperative period where improvements in nutrition status will likely impact surgical outcomes.

  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. 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

  17. Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

    PubMed Central

    Wat, Margaret J.; Shchelochkov, Oleg A.; Holder, Ashley M.; Breman, Amy M.; Dagli, Aditi; Bacino, Carlos; Scaglia, Fernando; Zori, Roberto T.; Cheung, Sau Wai; Scott, Daryl A.; Kang, Sung-Hae Lee

    2009-01-01

    Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genome hybridization. To better define the genotype/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated GATA4 mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm. PMID:19606479

  18. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

    PubMed

    Wat, Margaret J; Shchelochkov, Oleg A; Holder, Ashley M; Breman, Amy M; Dagli, Aditi; Bacino, Carlos; Scaglia, Fernando; Zori, Roberto T; Cheung, Sau Wai; Scott, Daryl A; Kang, Sung-Hae Lee

    2009-08-01

    Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genomic hybridization. To better define the genotype/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated GATA4 mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm.

  19. 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

  20. 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

  1. Pharmacokinetics of Morphine and Its Metabolites in Infants and Young Children After Congenital Heart Surgery.

    PubMed

    Elkomy, Mohammed H; Drover, David R; Glotzbach, Kristi L; Galinkin, Jeffery L; Frymoyer, Adam; Su, Felice; Hammer, Gregory B

    2016-01-01

    The objective of this study was to characterize morphine glucuronidation in infants and children following cardiac surgery for possible treatment individualization in this population. Twenty children aged 3 days to 6 years, admitted to the cardiovascular intensive care unit after congenital heart surgery, received an intravenous (IV) loading dose of morphine (0.15 mg/kg) followed by subsequent intermittent IV bolus doses based on a validated pain scale. Plasma samples were collected over 6 h after the loading dose and randomly after follow-up doses to measure morphine and its major metabolite concentrations. A population pharmacokinetic model was developed with the non-linear mixed effects software NONMEM. Parent disposition was adequately described by a linear two-compartment model. Effect of growth (size and maturation) on morphine parameters was accounted for by allometric body weight-based models. An intermediate compartment with Emax model best characterized glucuronide concentrations. Glomerular filtration rate was identified as a significant predictor of glucuronide formation time delay and maximum concentrations. Clearance of morphine in children with congenital heart disease is comparable to that reported in children without cardiac abnormalities of similar age. Children 1-6 months of age need higher morphine doses per kilogram to achieve an area under concentration-time curve comparable to that in older children. Pediatric patients with renal failure receiving morphine therapy are at increased risk of developing opioid toxicity due to accumulation of morphine metabolites.

  2. 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

  3. 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.

  4. 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.

  5. 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

  6. 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.

  7. 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

  8. 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

  9. Temporal Trends in Survival Among Infants With Critical Congenital Heart Defects

    PubMed Central

    Oster, Matthew E.; Lee, Kyung A.; Honein, Margaret A.; Riehle-Colarusso, Tiffany; Shin, Mikyong; Correa, Adolfo

    2015-01-01

    OBJECTIVE To evaluate the trends in survival for infants with critical congenital heart defects (CCHDs) and to examine the potential impact of timing of diagnosis and other prognostic factors on survival. METHODS We performed a retrospective population-based cohort study in infants born with structural congenital heart defects (CHDs) between 1979 and 2005 and ascertained by the Metropolitan Atlanta Congenital Defects Program. We estimated Kaplan-Meier survival probabilities for 12 CCHD phenotypes by birth era and timing of diagnosis among infants without noncardiac defects or chromosomal disorders and used stratified Cox proportional hazards models to assess potential prognostic factors. RESULTS Of 1 056 541 births, there were 6965 infants with CHDs (1830 with CCHDs). One-year survival was 75.2% for those with CCHDs (n = 1336) vs 97.1% for those with noncritical CHDs (n = 3530; P < .001). One-year survival for infants with CCHDs improved from 67.4% for the 1979–1993 birth era to 82.5% for the 1994–2005 era (P < .001). One-year survival was 71.7% for infants with CCHDs diagnosed at ≤1 day of age (n = 890) vs 82.5% for those with CCHDs diagnosed at >1 day of age (n = 405; P < .001). There was a significantly higher risk of 1-year mortality for infants with an earlier birth era, earlier diagnosis, and low birth weight and whose mothers were <30 years old. CONCLUSIONS One-year survival for infants with CCHDs has been improving over time, yet mortality remains high. Later diagnosis is associated with improved 1-year survival. These benchmark data and identified prognostic factors may aid future evaluations of the impact of pulse oximetry screening on survival from CCHDs. PMID:23610203

  10. 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

  11. Outcomes of recurrent laryngeal nerve injury following congenital heart surgery: A contemporary experience

    PubMed Central

    Alfares, Fahad A.; Hynes, Conor F.; Ansari, Ghedak; Chounoune, Reginald; Ramadan, Manelle; Shaughnessy, Conner; Reilly, Brian K.; Zurakowski, David; Jonas, Richard A.; Nath, Dilip S.

    2015-01-01

    Objective Injury to the recurrent laryngeal nerve can lead to significant morbidity during congenital cardiac surgery. The objective is to expand on the limited understanding of the severity and recovery of this iatrogenic condition. Design A six-year retrospective review of all congenital heart operations at a single institution from January 1, 2008 to December 31, 2013 was performed. All patients with documented vocal cord paralysis on laryngoscopic examination comprised the study cohort. Evaluation of time to vocal cord recovery and need for further surgical intervention was the primary focus. Results The incidence of post-operative vocal cord paralysis was 1.1% (32 out of 3036 patients; 95% confidence interval: 0.7–1.5%). The majority were left-sided injuries (71%). Overall rate of recovery was 61% with a median time of 10 months in those who recovered, and a total follow up of 46 months. Due to feeding complications, 45% of patients required gastrostomy tube after the injury, and these patients were found to have longer duration of post-operative days of intubation (median 10 vs. 5 days, p = 0.03), ICU length of stay (50 vs. 8 days, p = 0.002), and hospital length of stay (92 vs. 41 days, p = 0.01). No pre-operative variables were identified as predictive of recovery or need for gastrostomy placement. Conclusion Recurrent laryngeal nerve injury is a serious complication of congenital heart surgery that impacts post-operative morbidity, in some cases leading to a need for further intervention, in particular, gastrostomy tube placement. A prospective, multi-center study is needed to fully evaluate factors that influence severity and time to recovery. PMID:26778899

  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. 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

  14. Congenital complete heart block in the newborn associated with maternal systemic lupus erythematosus and other connective tissue disorders.

    PubMed Central

    Hardy, J D; Solomon, S; Banwell, G S; Beach, R; Wright, V; Howard, F M

    1979-01-01

    Four babies with complete heart block associated with maternal systemic lupus erythematosus (SLE) are described, together with a 5th baby whose mother had serological abnormalities only. One baby had a rapidly fatal outcome, one has required digoxin for heart failure, and the remaining 3 are asymptomatic but remain in complete heart block. Additional manifestations were present in 2 of them. The spectrum of neonatal abnormalities that may occur in association with maternal SLE and related connective tissue disorders is discussed, together with the possible causes and the prognosis. We conclude that congenital heart block is more common than had previously been appreciated. Images Figure PMID:420526

  15. 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

  16. The Effect of Noncardiac and Genetic Abnormalities on Outcomes Following Neonatal Congenital Heart Surgery.

    PubMed

    Alsoufi, Bahaaldin; Gillespie, Scott; Mahle, William T; Deshpande, Shriprasad; Kogon, Brian; Maher, Kevin; Kanter, Kirk

    2016-01-01

    Significant noncardiac and genetic abnormalities (NC and GA) are common in neonates with congenital heart defects. We sought to examine current-era effect of those abnormalities on early and late outcomes following cardiac surgery. The method from 2002-2012, 1538 neonates underwent repair (n = 860, 56%) or palliation (n = 678, 44%) of congenital heart defects. Regression models examined the effect of NC and GA on operative results, resource utilization, and late outcomes. Neonates with NC and GA (n = 312, 20%) had higher incidence of prematurity (21% vs 13%; P < 0.001) and weight ≤2.5kg (24% vs 12%; P < 0.001) than neonates without NC and GA (n = 1226, 80%). Although the incidence of single ventricle was comparable (34% vs 31%; P = 0.37), neonates with NC and GA underwent more palliation (52% vs 42%; P = 0.001) and subsequently had higher percentage of STAT mortality categories (Society of Thoracic Surgeons (STS) and the European Association for Cardio-thoracic Surgery (EACTS) Congenital Heart Surgery Mortality Categories) 4 and 5 procedures (78% vs 66%; P < 0.001). Adjusted logistic regression models that included disparate patient and operative variables showed that the presence of NC and GA was associated with increased unplanned reoperation (odds ratio = 1.7; 95% CI: 1.1-2.7; P = 0.03) and hospital mortality (odds ratio = 2.2; 95% CI: 1.3-3.6; P = 0.002). Adjusted linear regression models showed significant association between NC and GA and increased postoperative mechanical ventilation duration, intensive care unit, and hospital stays (P < 0.001 each). Adjusted hazard analysis showed that the presence of NC and GA was associated with diminished late survival (hazard ratio = 2.4; 95% CI: 1.9-3.1; P < 0.001) and that was evident in all subgroups of patients (P < 0.001 each). Conclusion is neonates with NC and GA commonly have associated risk factors for morbidity and mortality such as prematurity and low weight. After adjusting for those factors, the presence

  17. 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

  18. 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

  19. Pacing-induced congenital heart defects assessed by OCT (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Ford, Stephanie M.; McPheeters, Matt T.; Wang, Yves T.; Gu, Shi; Doughman, Yong Qiu; Strainic, James P.; Rollins, Andrew M.; Watanabe, Michiko; Jenkins, Michael W.

    2016-03-01

    The role of hemodynamics in early heart development is poorly understood. In order to successfully assess the impact of hemodynamics on development, we need to monitor and perturb blood flow, and quantify the resultant effects on morphology. Here, we have utilized cardiac optical pacing to create regurgitant flow in embryonic hearts and OCT to quantify regurgitation percentage and resultant morphology. Embryonic quail in a shell-less culture were optically paced at 3 Hz (well above the intrinsic rate or 1.33-1.67 Hz) on day 2 of development (3-4 weeks human) for 5 minutes. The pacing fatigued the heart and led to a prolonged period (> 1 hour) of increased regurgitant flow. Embryos were kept alive until day 3 (cardiac looping - 4-5 weeks human) or day 8 (4 chambered heart - 8 weeks human) to quantify resultant morphologic changes with OCT. All paced embryos imaged at day 3 displayed cardiac defects. The extent of regurgitant flow immediately after pacing was correlated with cardiac cushion size 24-hours post pacing (p-value < 0.01) with higher regurgitation leading to smaller cushions. Almost all embryos (16/18) surviving to day 8 exhibited congenital heart defects (CHDs) including 11/18 with valve defects, 5/18 with ventricular septal defects and 5/18 with hypoplastic right ventricles. Our data suggests that regurgitant flow leads to smaller cushions, which develop into abnormal valves and septa. Our model produces similar phenotypes as found in our fetal alcohol syndrome and velo-cardio-facial/DiGeorge syndrome models suggesting that hemodynamics plays a role in these syndromes as well. Utilizing OCT and optical pacing to understand hemodynamics in development is an important step towards determining CHD mechanisms and ultimately developing earlier treatments.

  20. 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.

  1. "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…

  2. 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…

  3. Genetic abnormalities in FOXP1 are associated with congenital heart defects.

    PubMed

    Chang, Sheng-Wei; Mislankar, Mona; Misra, Chaitali; Huang, Nianyuan; Dajusta, Daniel G; Harrison, Steven M; McBride, Kim L; Baker, Linda A; Garg, Vidu

    2013-09-01

    The etiology for the majority of congenital heart defects (CHD) is unknown. We identified a patient with unbalanced atrioventricular septal defect (AVSD) and hypoplastic left ventricle who harbored an ~0.3 Mb monoallelic deletion on chromosome 3p14.1. The deletion encompassed the first four exons of FOXP1, a gene critical for normal heart development that represses cardiomyocyte proliferation and expression of Nkx2.5. To determine whether FOXP1 mutations are found in patients with CHD, we sequenced FOXP1 in 82 patients with AVSD or hypoplastic left heart syndrome. We discovered two patients who harbored a heterozygous c.1702C>T variant in FOXP1 that predicted a potentially deleterious substitution of a highly conserved proline (p.Pro568Ser). This variant was not found in 287 controls but is present in dbSNP at a 0.2% frequency. The orthologous murine Foxp1 p.Pro596Ser mutant protein displayed deficits in luciferase reporter assays and resulted in increased proliferation and Nkx2.5 expression in cardiomyoblasts. Our data suggest that haploinsufficiency of FOXP1 is associated with human CHD.

  4. Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects

    PubMed Central

    Xie, Wan-qin; Zhou, Lin; Chen, Yong; Ni, Bin

    2016-01-01

    BACKGROUND: MicroRNAs are small non-coding RNAs of approximately 22 nucleotides in length, and play important regulatory roles in normal heart development and the pathogenesis of heart diseases. Recently, a few prospective studies have implicated the diagnostic role of microRNAs in congenital heart defects (CHD). DATA RESOURCES: This review retrieved the research articles in PubMed focusing on the altered microRNAs in cardiac tissue or serum of patients with CHD versus healthy normal controls, as well as the studies exploring circulating microRNAs as potential biomarkers for (fetal) CHD. RESULTS: Most of the studies of interest were conducted in recent years, implicating that the topic in this review is a newly emerging field and is drawing much attention. Moreover, a number of differentially expressed microRNAs between CHD specimens and normal controls have been reported. CONCLUSION: Circulating microRNAs may serve as potential biomarkers for diagnosis of CHD in the future, with more efforts paving the road to the aim. PMID:27313801

  5. Partnership for the heart. German-Estonian health project for the treatment of congenital heart defects in Estonia.

    PubMed

    Köhler, Friedrich; Schierbaum, Clausjürgen; Konertz, Wolfgang; Schneider, Martin; Kern, Hartmut; Int, Eve; Tael, Kristi; Siigur, Urmas; Kleinfeld, Klaus; Bühlmeyer, Konrad; Fotuhi, Parwis; Winter, Stefan Frank

    2005-08-01

    Congenital heart defects (CHD) occur in 8 per 1000 live births. If they remain untreated, 70-80% of these patients die in early childhood. With modern diagnostic and treatment procedures, 90% of these patients reach adulthood. Within 8 years following reunification of Germany, it was possible to improve treatment for CHD in former East Germany to West German standards. Based on the experience gained in this process, a plan for improvement of care of Estonian patients with CHD was developed and implemented in the German-Estonian project, "Partnership for the Heart". The main elements of the project were (1) the training of Estonian physicians in Germany, (2) training courses conducted by German and Estonian specialists in Estonia and (3) use of telemedicine for consultation on a continuous basis. During the project 15 Estonian patients underwent cardiac surgery and/or catheter interventions performed by a joint team of German and Estonian specialists. The infant mortality due to CHD in Estonia fell by 28% during the project period. Key techniques of cardiac surgery are now being employed in Estonia without outside support, indicating the success of the training program and the long-term improvements to cardiac health care in Estonia. The total project costs were 314,252 Euro (euro), which is 50% lower than the estimated cost of treating the 15 patients abroad in Western Europe. The structure of "Partnership for the Heart" and the modified self-sufficiency model of medical care have not only produced results for Estonia but can be taken as a template for future bilateral health projects with other transition countries and for other fields of medical specialisation, and thus might aid a European health policy.

  6. 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

  7. 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

  8. [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%.

  9. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.

    PubMed

    Hartman, Robert J; Rasmussen, Sonja A; Botto, Lorenzo D; Riehle-Colarusso, Tiffany; Martin, Christa L; Cragan, Janet D; Shin, Mikyong; Correa, Adolfo

    2011-12-01

    We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.

  10. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.

    PubMed

    Hartman, Robert J; Rasmussen, Sonja A; Botto, Lorenzo D; Riehle-Colarusso, Tiffany; Martin, Christa L; Cragan, Janet D; Shin, Mikyong; Correa, Adolfo

    2011-12-01

    We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further. PMID:21728077

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. 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

  16. 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

  17. Stem Cells and Progenitor Cells for Tissue-Engineered Solutions to Congenital Heart Defects

    PubMed Central

    Gao, Yang; Jacot, Jeffrey G

    2015-01-01

    Synthetic patches and fixed grafts currently used in the repair of congenital heart defects are nonliving, noncontractile, and not electrically responsive, leading to increased risk of complication, reoperation, and sudden cardiac death. Studies suggest that tissue-engineered patches made from living, functional cells could grow with the patient, facilitate healing, and help recover cardiac function. In this paper, we review the research into possible sources of cardiomyocytes and other cardiac cells, including embryonic stem cells, induced pluripotent stem cells, mesenchymal stem cells, adipose-derived stem cells, umbilical cord blood cells, amniotic fluid-derived stem cells, and cardiac progenitor cells. Each cell source has advantages, but also has technical hurdles to overcome, including heterogeneity, functional maturity, immunogenicity, and pathogenicity. Additionally, biomaterials used as patch materials will need to attract and support desired cells and induce minimal immune responses. PMID:26379417

  18. 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

  19. 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.

  20. Relationship Satisfaction Among Mothers of Children With Congenital Heart Defects: A Prospective Case-Cohort Study

    PubMed Central

    Solberg, Øivind; Holmstrøm, Henrik; Landolt, Markus A.; Eskedal, Leif T.; Vollrath, Margarete E.

    2013-01-01

    Objective To assess the level of partner relationship satisfaction among mothers of children with different severity of congenital heart defects (CHD) compared with mothers in the cohort. Methods Mothers of children with mild, moderate, or severe CHD (n = 182) and a cohort of mothers of children without CHD (n = 46,782) from the Norwegian Mother and Child Cohort Study were assessed at 5 time points from pregnancy to 36 months postpartum. A 5-item version of the Relationship Satisfaction scale was used, and relevant covariates were explored. Results The trajectories of relationship satisfaction among mothers of children with varying CHD severity did not differ from the trajectories in the cohort. All women in the cohort experienced decreasing relationship satisfaction from 18 months after delivery up to 36 months after delivery. Conclusions Having a child with CHD, regardless of severity, does not appear to exacerbate the decline in relationship satisfaction. PMID:23792348

  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. 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

  4. Stem Cells and Progenitor Cells for Tissue-Engineered Solutions to Congenital Heart Defects.

    PubMed

    Gao, Yang; Jacot, Jeffrey G

    2015-01-01

    Synthetic patches and fixed grafts currently used in the repair of congenital heart defects are nonliving, noncontractile, and not electrically responsive, leading to increased risk of complication, reoperation, and sudden cardiac death. Studies suggest that tissue-engineered patches made from living, functional cells could grow with the patient, facilitate healing, and help recover cardiac function. In this paper, we review the research into possible sources of cardiomyocytes and other cardiac cells, including embryonic stem cells, induced pluripotent stem cells, mesenchymal stem cells, adipose-derived stem cells, umbilical cord blood cells, amniotic fluid-derived stem cells, and cardiac progenitor cells. Each cell source has advantages, but also has technical hurdles to overcome, including heterogeneity, functional maturity, immunogenicity, and pathogenicity. Additionally, biomaterials used as patch materials will need to attract and support desired cells and induce minimal immune responses. PMID:26379417

  5. Optical measurement of cerebral hemodynamics and oxygen metabolism in neonates with congenital heart defects

    NASA Astrophysics Data System (ADS)

    Durduran, Turgut; Zhou, Chao; Buckley, Erin M.; Kim, Meeri N.; Yu, Guoqiang; Choe, Regine; Gaynor, J. William; Spray, Thomas L.; Durning, Suzanne M.; Mason, Stefanie E.; Montenegro, Lisa M.; Nicolson, Susan C.; Zimmerman, Robert A.; Putt, Mary E.; Wang, Jiongjiong; Greenberg, Joel H.; Detre, John A.; Yodh, Arjun G.; Licht, Daniel J.

    2010-05-01

    We employ a hybrid diffuse correlation spectroscopy (DCS) and near-infrared spectroscopy (NIRS) monitor for neonates with congenital heart disease (n=33). The NIRS-DCS device measured changes during hypercapnia of oxyhemoglobin, deoxyhemoglobin, and total hemoglobin concentrations; cerebral blood flow (rCBFDCS); and oxygen metabolism (rCMRO2). Concurrent measurements with arterial spin-labeled magnetic resonance imaging (rCBFASL-MRI, n=12) cross-validate rCBFDCS against rCBFASL-MRI, showing good agreement (R=0.7, p=0.01). The study demonstrates use of NIRS-DCS on a critically ill neonatal population, and the results indicate that the optical technology is a promising clinical method for monitoring this population.

  6. Perioperative pharmacological management of pulmonary hypertensive crisis during congenital heart surgery.

    PubMed

    Brunner, Nathan; de Jesus Perez, Vinicio A; Richter, Alice; Haddad, François; Denault, André; Rojas, Vanessa; Yuan, Ke; Orcholski, Mark; Liao, Xiaobo

    2014-03-01

    Pulmonary hypertensive crisis is an important cause of morbidity and mortality in patients with pulmonary arterial hypertension secondary to congenital heart disease (PAH-CHD) who require cardiac surgery. At present, prevention and management of perioperative pulmonary hypertensive crisis is aimed at optimizing cardiopulmonary interactions by targeting prostacyclin, endothelin, and nitric oxide signaling pathways within the pulmonary circulation with various pharmacological agents. This review is aimed at familiarizing the practitioner with the current pharmacological treatment for dealing with perioperative pulmonary hypertensive crisis in PAH-CHD patients. Given the life-threatening complications associated with pulmonary hypertensive crisis, proper perioperative planning can help anticipate cardiopulmonary complications and optimize surgical outcomes in this patient population.

  7. 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.

  8. The Contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects.

    PubMed

    Yuan, Shi-Min

    2012-12-01

    Contegra, a bovine jugular vein graft, has been widely used as a preferable biomaterial in the surgical treatment of congenital heart defects, especially as a conduit for the right ventricular outflow tract reconstruction. This article aims to make a comprehensive review on the clinical outcomes of Contegra. Reports of Contegra published since 2002 were comprehensively retrieved, collected and analyzed. There were 1718 Contegra, applied in 1705 patients. The sizes of the conduits were 8-22 mm. The patients aged from newborn to 74.5 years, prevailed by pediatrics. The primary diagnosis was congenital heart defects in all cases, with Tetralogy of Fallot, truncus arteriosus and pulmonary atresia being the first three diagnoses, representing 25.6%, 16.7%, and 13.1%, respectively. Contegra was used as a tube graft in the pulmonary position in 1635 (95.9%) patients, as a monocuspid patch in 12 (0.7%), as a graft in the position of the pulmonary valve or a monocusps in 40 (2.3%), and as an inferior vena cava-pulmonary artery conduit in the Fontan procedure in 18 (1.1%) patients, respectively. Conduit reimplantation was performed in 141 (8.3%) patients 33.8 ± 37 (8.6-106.8) months after the initial conduit insertion. Conduit plasty was necessary in 6 (0.4%), and reintervention in 83 (4.9%) patients. Indications for conduit reimplantation included severe stenosis of the distal anastomosis, pseudoaneurysm of the proximal anastomosis and severe conduit regurgitation. As for the good performance, availability and longevity, Contegra is a biomaterial suitable for the right ventricular outflow tract reconstruction and for patch repair for ventricular septal defect, but not apt for Fontan procedure. PMID:23152287

  9. 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

  10. Parental allelic variation at COL6A1 and congenital heart defects in trisomy 21

    SciTech Connect

    Kessling, A.M.; Howard, C.M.; Farrer, M.J.

    1994-09-01

    Overt congenital heart defects (CHD) affect over 40% of newborns with Down syndrome. On the hypothesis that genetic variation on chromosome 21 determines this clinical variability, we studied a CHD candidate locus (COL6A1) on 21q22.3. We studied three RFLP loci in COL6A1 in 37 families of known British/Irish population of ancestral origin, and in population-matched controls. Each family had a child with trisomy 21 with or without accompanying congenital heart defect (CHD). Parental and meiotic origin of nondisjunction were determined using peri-centromeric markers. For the analysis, we considered groups of families with trisomic children with and without CHD, and subsets of nondisjoining and disjoining parents. Parental genotypes at nine control RFLP loci on chromosome 21 showed no association with CHD in the trisomic child. By contrast, parental genotypes at all three individual RFLP loci within COL6A1 showed statistically significant association with the trisomic child`s CHD status. Pairwise consideration of these loci in groups of families of trisomic children with and without CHD showed subsets of nondisjoining and disjoining parents to have different linkage disequilibrium patterns at these loci than population-matched controls. This suggests that the COL6A1 alleles of the parents are not representative of the population as a whole. Consideration of all three loci together as haplotypes supports this conclusion. Four results suggest that a functional mutation within, or in linkage disequilibrium with COL6A1 influences CHD outcome in trisomy 21.

  11. Repeatability of heart rate variability in congenital hypothyroidism as analysed by detrended fluctuation analysis.

    PubMed

    Echeverría, J C; Solís, L I; Pérez, J E; Gaitán, M J; Rivera, I R; Mandujano, M; Sánchez, M C; González-Camarena, R

    2009-10-01

    The analysis of heart rate fluctuations, or heart rate variability (HRV), may be applied to explore children's neurodevelopment. However, previous studies have reported poor reliability (repeatability) of HRV measures in children at rest and during light exercise. Whether the reliability can be improved by controlling variables such as physical activity, breathing rate and tidal volume, or by selecting non-conventional techniques for analysing the data remains as an open question. We evaluated the short-term repeatability of RR-interval data from medicated children with congenital hypothyroidism (CH). The alpha(1) exponents, obtained by detrended fluctuation analysis (DFA), from the data of 21 children collected at two different sessions were compared. Elapsed days between sessions were 59 +/- 33, and data were obtained during 10 min, trying to restrict the children's activity while being seated. We found statistical agreement between the means of alpha(1) exponents for each session (p = 0.94) and no bias with a low-coefficient variation (9.1%); an intraclass correlation coefficient ri = 0.48 ([0.14 0.72], 95% confidence interval) was also estimated. These findings, which were compared with results obtained by conventional time and frequency techniques, indicate the existence of agreement between the alpha(1) exponents obtained at each session, thereby providing support concerning the repeatability of HRV data as analysed by DFA in children with congenital hypothyroidism. Of particular interest was also the agreement found by using the central frequency of the high-frequency band and the parameter pNN20, both showing better or similar ri than alpha(1) (0.77 [0.57 0.89] and 0.51 [0.17 0.74], respectively), yet considerably better repeatability than other conventional time and frequency parameters.

  12. Hypoplastic left heart syndrome

    MedlinePlus

    HLHS; Congenital heart - hypoplastic left heart; Cyanotic heart disease - hypoplastic left heart ... Hypoplastic left heart is a rare type of congenital heart disease. It is more common in males than in females. As ...

  13. Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects.

    PubMed

    Bard-Chapeau, Emilie A; Szumska, Dorota; Jacob, Bindya; Chua, Belinda Q L; Chatterjee, Gouri C; Zhang, Yi; Ward, Jerrold M; Urun, Fatma; Kinameri, Emi; Vincent, Stéphane D; Ahmed, Sayadi; Bhattacharya, Shoumo; Osato, Motomi; Perkins, Archibald S; Moore, Adrian W; Jenkins, Nancy A; Copeland, Neal G

    2014-01-01

    The ecotropic viral integration site 1 (Evi1) oncogenic transcription factor is one of a number of alternative transcripts encoded by the Mds1 and Evi1 complex locus (Mecom). Overexpression of Evi1 has been observed in a number of myeloid disorders and is associated with poor patient survival. It is also amplified and/or overexpressed in many epithelial cancers including nasopharyngeal carcinoma, ovarian carcinoma, ependymomas, and lung and colorectal cancers. Two murine knockout models have also demonstrated Evi1's critical role in the maintenance of hematopoietic stem cell renewal with its absence resulting in the death of mutant embryos due to hematopoietic failure. Here we characterize a novel mouse model (designated Evi1(fl3)) in which Evi1 exon 3, which carries the ATG start, is flanked by loxP sites. Unexpectedly, we found that germline deletion of exon3 produces a hypomorphic allele due to the use of an alternative ATG start site located in exon 4, resulting in a minor Evi1 N-terminal truncation and a block in expression of the Mds1-Evi1 fusion transcript. Evi1(δex3/δex3) mutant embryos showed only a mild non-lethal hematopoietic phenotype and bone marrow failure was only observed in adult Vav-iCre/+, Evi1(fl3/fl3) mice in which exon 3 was specifically deleted in the hematopoietic system. Evi1(δex3/δex3) knockout pups are born in normal numbers but die during the perinatal period from congenital heart defects. Database searches identified 143 genes with similar mutant heart phenotypes as those observed in Evi1(δex3/δex3) mutant pups. Interestingly, 42 of these congenital heart defect genes contain known Evi1-binding sites, and expression of 18 of these genes are also effected by Evi1 siRNA knockdown. These results show a potential functional involvement of Evi1 target genes in heart development and indicate that Evi1 is part of a transcriptional program that regulates cardiac development in addition to the development of blood. PMID:24586749

  14. 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

  15. 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

  16. Transcatheter closure with use of the SHSMA occluder in 180 patients with congenital heart defects: preliminary results.

    PubMed

    Sun, Wan-Feng; Dong, Zhi-Feng; Gong, Kaizheng; Zhang, Guo-Pei; Cui, Ting; Xia, Yu-Dong; Dong, Jing; Shen, Yuan

    2010-01-01

    Transcatheter closure of congenital heart defects with the use of septal occluders has been widely accepted as a preferred treatment; however, the high cost of these devices limits their clinical application in some countries. Few clinical data are available regarding lower-cost products. Accordingly, we evaluated the efficacy and safety of the Chinese-made Shanghai Shape Memory Alloy (SHSMA) occluder in patients with congenital heart defects. From December 2001 through December 2008, a total of 180 patients with congenital heart defects (ages, 3-68 yr; mean age, 17.35 ± 13.22 yr) underwent transcatheter closure with use of the SHSMA occluder: 73 had atrial septal defects; 64, ventricular septal defects; 40, patent ductus arteriosus; and 3, complex congenital defects. The mean diameters of the defects were 20 ± 7.6 mm (atrial septal), 4.9 ± 2.1 mm (ventricular septal), and 5.6 ± 2.2 mm (patent ductus arteriosus). The procedural success rates were 98.6% for atrial defects, 98.4% for ventricular defects, and 100% for patent ductus arteriosus and for complex defects. The overall incidences of sequelae were 5.5%, 9.4%, 2.5%, and 0, respectively. Six months postprocedurally, complete occlusion was associated with a significant decrease in the right ventricular Tei index in atrial septal defect patients (P < 0.05) and with improvement of body mass index in 11 children. These results suggest that the SHSMA occluder is a safe, effective device for the transcatheter closure of congenital heart defects. For confirmation, a randomized controlled trial with more patients and a longer follow-up period is warranted. PMID:20978563

  17. 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

  18. Trichloroethylene-contaminated drinking water and congenital heart defects: a critical analysis of the literature.

    PubMed

    Watson, Rebecca E; Jacobson, Catherine F; Williams, Amy Lavin; Howard, W Brian; DeSesso, John M

    2006-02-01

    The organic solvent trichloroethylene (TCE) is a metal degreasing agent and an intermediate in the production of fluorochemicals and polyvinyl chloride. TCE is also a common, persistent drinking water contaminant. Several epidemiological studies have alleged links between TCE exposure during pregnancy and offspring health problems including congenital heart defects (CHDs); however, the results of these studies are inconsistent, difficult to interpret, and involve several confounding factors. Similarly, the results of animal studies examining the potential of TCE to elicit cardiac anomalies have been inconsistent, and they have often been performed at doses far exceeding the highest levels ever reported in the drinking water. To determine what is known about the relationship between TCE and the incidence of CHDs, a comprehensive analysis of all available epidemiological data and animal studies was performed. Additionally, in vivo and in vitro studies examining possible mechanisms of action for TCE were evaluated. The specific types of heart defects alleged to have been caused by TCE in animal and human epidemiology studies were categorized by the morphogenetic process responsible for the defect in order to determine whether TCE might disrupt any specific developmental process. This analysis revealed that no single process was clearly affected by TCE, providing support that gestational TCE exposure does not increase the prevalence of CHDs. As a final evaluation, application of Hill's causality guidelines to the collective body of data revealed no indication of a causal link between gestational TCE exposure at environmentally relevant concentrations and CHDs.

  19. Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.

    PubMed

    Lv, Wei; Wang, Shuyu

    2014-11-01

    Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping of either amniotic fluid cell or umbilical cord blood cell samples. Fetuses with a normal result were then investigated for the 22q11 microdeletion by fluorescence in situ hybridization. Of the 113 patients, 12 (10.6%) exhibited chromosomal abnormalities, while 6 (5.3%) of the remaining 101 cases presented with a 22q11 microdeletion. The incidence of chromosomal abnormalities was significantly higher in the group of fetuses presenting with extracardiac malformations in addition to CHD (P<0.001), although the detection of the 22q11 microdeletion was not significantly different between the two groups (P=0.583). In addition, all fetuses with the 22q11 microdeletion occurred de novo. In conclusion, genetic factors are important in the etiology of CHD. Where fetuses present with cardiac defects, additional chromosomal analysis is required to detect extracardiac abnormalities. Fetuses with heart defects should also be considered for 22q11 microdeletion detection to evaluate fetal prognosis, particularly prior to surgery.

  20. 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

  1. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

    PubMed

    Garg, Vidu; Kathiriya, Irfan S; Barnes, Robert; Schluterman, Marie K; King, Isabelle N; Butler, Cheryl A; Rothrock, Caryn R; Eapen, Reenu S; Hirayama-Yamada, Kayoko; Joo, Kunitaka; Matsuoka, Rumiko; Cohen, Jonathan C; Srivastava, Deepak

    2003-07-24

    Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns. Only one causative gene, NKX2-5, has been identified through genetic linkage analysis of pedigrees with non-syndromic CHDs. Here, we show that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23. A heterozygous G296S missense mutation of GATA4, a transcription factor essential for heart formation, was found in all available affected family members but not in any control individuals. This mutation resulted in diminished DNA-binding affinity and transcriptional activity of Gata4. Furthermore, the Gata4 mutation abrogated a physical interaction between Gata4 and TBX5, a T-box protein responsible for a subset of syndromic cardiac septal defects. Conversely, interaction of Gata4 and TBX5 was disrupted by specific human TBX5 missense mutations that cause similar cardiac septal defects. In a second family, we identified a frame-shift mutation of GATA4 (E359del) that was transcriptionally inactive and segregated with cardiac septal defects. These results implicate GATA4 as a genetic cause of human cardiac septal defects, perhaps through its interaction with TBX5. PMID:12845333

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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

  8. Maternal dietary patterns are associated with risk of neural tube and congenital heart defects.

    PubMed

    Sotres-Alvarez, Daniela; Siega-Riz, Anna Maria; Herring, Amy H; Carmichael, Suzan L; Feldkamp, Marcia L; Hobbs, Charlotte A; Olshan, Andrew F

    2013-06-01

    Studying empirically derived dietary patterns is useful in understanding dietary practice. We classified women by their dietary patterns using latent class analysis of 66 foods and studied the association of these patterns with neural tube defects (NTDs) and congenital heart defects (CHDs) in the U.S. National Birth Defects Prevention Study (1997-2005). Logistic regression models used data from 1,047 with an NTD, 6,641 with a CHD, and 6,123 controls that were adjusted for maternal characteristics and tested the effect modification of multivitamin supplement use. Four latent dietary patterns were identified: prudent, Western, low-calorie Western, and Mexican. Among participants who did not use supplements, those in the Mexican, Western, and low-calorie Western classes were significantly more likely (odds ratios of 1.6, 1.5, and 1.4, respectively) to have offspring born with NTDs than were those in the prudent class after adjustment of for dietary folic acid intake. In contrast, among supplement users, there was no difference in the incidence of NTDs between classes. Associations between dietary class and CHD subgroups were not modified by supplement use except for tetralogy of Fallot; among supplement users, those in the Western class were twice as likely (95% confidence interval: 1.4, 2.8) as the prudent class to have offspring with tetralogy of Fallot. Women who adhered to a Western diet were 1.2 (95% confidence interval: 1.03, 1.35) times more likely to have an infant with septal heart defect than were women who adhered to a prudent diet. A prudent dietary pattern, even with folate fortification, may decrease the risk of NTDs and some heart defects.

  9. 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.

  10. 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

  11. 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

  12. Screening for Critical Congenital Heart Defects with Pulse Oximetry: Medical Aspects.

    PubMed

    Ewer, Andrew K

    2016-09-01

    The detection of newborn babies with potentially life-threatening, critical congenital heart defects (CCHDs) before they collapse or expire remains an important clinical challenge. The absence of physical signs and the difficulty assessing mild cyanosis means that the newborn baby check misses up to a third of babies. Fetal anomaly ultrasound scanning identifies an increasing proportion, but this screen is operator-dependent and therefore highly variable; although some units report very high detection rates, overall most babies with CCHD are still missed. Pulse oximetry screening (POS) is an additional test that meets the criteria for universal screening. POS increases overall detection of CCHD to over 90% and also identifies babies with noncardiac, hypoxemic conditions (such as congenital pneumonia, early-onset sepsis, and pulmonary hypertension), which are usually included in the false positives. There is a wealth of published data on the POS, both in a research setting and more recently in routine clinical practice, and consideration of POS is becoming increasingly widespread particularly among high-income countries. But a degree of controversy still remains, and debate continues regarding the most appropriate time to screen, the most effective screening pathway, and screening outside the well-baby nursery. So, should all newborn babies be screened with POS, if so, when and where should screening take place, what saturations are acceptable, and which conditions are we trying to identify? This review will look at the available evidence and try to suggest the way forward for those considering its introduction into their clinical practice. PMID:27603536

  13. 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

  14. 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

  15. Correlations Between Echocardiographic Systolic and Diastolic Function with Cardiac Catheterization in Biventricular Congenital Heart Patients.

    PubMed

    Nadorlik, H; Stiver, C; Khan, S; Miao, Y; Holzer, R; Cheatham, J P; Cua, C L

    2016-04-01

    Newer echocardiographic techniques may allow for more accurate assessment of left ventricular (LV) function. Adult studies have correlated these echocardiographic measurements with invasive data, but minimal data exist in the pediatric congenital heart population. Purpose of this study was to evaluate which echocardiographic measurements correlated best with LV systolic and diastolic catheterization parameters. Patients with two-ventricle physiology who underwent simultaneous echocardiogram and cardiac catheterization were included. Images were obtained in the four-chamber view. LV systolic echocardiographic data included ejection fraction, displacement, tissue Doppler imaging (TDI) s' wave, global longitudinal strain, and strain rate (SR) s' wave. Diastolic echocardiographic data included mitral E and A waves, TDI e' and a' waves, and SRe' and SRa' waves. E/TDI e', TDI e'/TDI a', E/SRe', and SRe'/SRa' ratios were also calculated. Catheterization dP/dt was used as a marker for systolic function, and LV end-diastolic pressure (EDP) was used as a marker for diastolic function. Correlations of the echocardiographic and catheterization values were performed using Pearson correlation. Twenty-nine patients were included (14 females, 15 males). Median age at catheterization was 3.4 years (0.04-17.4 years). dP/dt was 1258 ± 353 mmHg/s, and LVEDP was 10.8 ± 2.4 mmHg. There were no significant correlations between catheterization dP/dt and systolic echocardiographic parameters. LVEDP correlated significantly with SRe' (r = -0.4, p = 0.03), SRa' (r = -0.4, p = 0.03), and E/SRe' (r = 0.5, p = 0.004). In pediatric congenital heart patients, catheterization dP/dt did not correlate with echocardiographic measurements of LV systolic function. Further studies are needed to determine which echocardiographic parameter best describes LV systolic function in this population. Strain rate analysis significantly correlated with LVEDP. Strain rate analysis should be considered as an

  16. Interstitial deletion of 8q21{yields}22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant

    SciTech Connect

    Donahue, M.L.; Ryan, R.M.

    1995-03-13

    We describe an infant with a deletion of 8q21{yields}22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a {open_quotes}carp-shaped{close_quotes} mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previously noted three cases, helps in delineating a recognizable syndrome. 12 refs., 3 figs., 1 tab.

  17. Folate deficiency and folic acid supplementation: the prevention of neural-tube defects and congenital heart defects.

    PubMed

    Czeizel, Andrew E; Dudás, Istvan; Vereczkey, Attila; Bánhidy, Ferenc

    2013-11-21

    Diet, particularly vitamin deficiency, is associated with the risk of birth defects. The aim of this review paper is to show the characteristics of common and severe neural-tube defects together with congenital heart defects (CHD) as vitamin deficiencies play a role in their origin. The findings of the Hungarian intervention (randomized double-blind and cohort controlled) trials indicated that periconceptional folic acid (FA)-containing multivitamin supplementation prevented the major proportion (about 90%) of neural-tube defects (NTD) as well as a certain proportion (about 40%) of congenital heart defects. Finally the benefits and drawbacks of three main practical applications of folic acid/multivitamin treatment such as (i) dietary intake; (ii) periconceptional supplementation; and (iii) flour fortification are discussed. The conclusion arrived at is indeed confirmation of Benjamin Franklin's statement: "An ounce of prevention is better than a pound of care".

  18. 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

  19. 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.

  20. [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

  1. [The mechanical properties of the lungs in patients with congenital heart defects in the immediate postoperative period].

    PubMed

    Zatevakhina, M V; Nikitin, E S; Tskhovrebov, S V; Makrushin, I M; Suvorova, G Iu; Safonova, E M

    1998-01-01

    Static compliance and inspiratory resistance were assessed in 218 patients aged over 3 years after open-heart surgery for correction of congenital heart disease during the immediate postoperative period without complications. Cst in the immediate postoperative period in patients with Fallot's tetralogy, intraventricular septum defect, intraatrial septum defect, and incomplete form of atrioventricular communication was higher than in patients operated on for Fallot's tetralogy with a previous systemic-pulmonary anastomosis and pulmonary artery atresia, whereas Rinsp was virtually the same in all groups. Age-specific differences were noted. The data are recommended for use as reference values in stress. PMID:9770809

  2. 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

  3. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors—Is Pharmacogenetics the Key?

    PubMed Central

    Daud, Aizati N. A.; Bergman, Jorieke E. H.; Kerstjens-Frederikse, Wilhelmina S.; Groen, Henk; Wilffert, Bob

    2016-01-01

    Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not. PMID:27529241

  4. 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.

  5. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?

    PubMed

    Daud, Aizati N A; Bergman, Jorieke E H; Kerstjens-Frederikse, Wilhelmina S; Groen, Henk; Wilffert, Bob

    2016-01-01

    Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not. PMID:27529241

  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. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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.

  15. Ozone and Other Air Pollutants and the Risk of Congenital Heart Defects

    PubMed Central

    Zhang, Bin; Zhao, Jinzhu; Yang, Rong; Qian, Zhengmin; Liang, Shengwen; Bassig, Bryan A.; Zhang, Yiming; Hu, Ke; Xu, Shunqing; Dong, Guanghui; Zheng, Tongzhang; Yang, Shaoping

    2016-01-01

    The objective of this study was to evaluate whether high levels of maternal exposure to O3, SO2, NO2, CO are related to increased risk of congenital heart defects (CHDs) in Wuhan, China. The study included mothers living in the central districts of Wuhan during pregnancy over the two-year period from June 10, 2011 to June 9, 2013. For each study participant, we assigned 1-month averages of O3, SO2, NO2 and CO exposure based on measurements obtained from the nearest exposure monitor to the living residence of mothers during their early pregnancy period. In one-pollutant model, we observed an increased risk of CHDs, ventricular septal defect (VSD), and tetralogy of fallot (TF) with increasing O3 exposure. In two-pollutant model, associations with all CHDs, VSD, and TF for O3 were generally consistent compared to the models that included only O3, with the strongest aORs observed for exposures during the third month of pregnancy. We also observed a positive association between CO exposures during the third month of pregnancy and VSD in two pollution model.Our results contribute to the small body of evidence regarding air pollution exposure and CHDs, but confirmation of these associations will be needed in future studies. PMID:27752048

  16. [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

  17. 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

  18. Collaboratively charting the gene-to-phenotype network of human congenital heart defects

    PubMed Central

    2010-01-01

    Background How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with the emerging computational strategies from systems biology is still much of an open question. Description We built on the recent advances in Wiki-based technologies to develop a collaborative knowledge base and gene prioritization portal aimed at mapping genes and genomic regions, and untangling their relations with corresponding human phenotypes, congenital heart defects (CHDs). This portal is not only an evolving community repository of current knowledge on the genetic basis of CHDs, but also a collaborative environment for the study of candidate genes potentially implicated in CHDs - in particular by integrating recent strategies for the statistical prioritization of candidate genes. It thus serves and connects the broad community that is facing CHDs, ranging from the pediatric cardiologist and clinical geneticist to the basic investigator of cardiogenesis. Conclusions This study describes the first specialized portal to collaboratively annotate and analyze gene-phenotype networks. Of broad interest to the biological community, we argue that such portals will play a significant role in systems biology studies of numerous complex biological processes. CHDWiki is accessible at http://www.esat.kuleuven.be/~bioiuser/chdwiki PMID:20193066

  19. Prevalence of Congenital Heart Defects Associated with Down Syndrome in Korea

    PubMed Central

    Choi, Jung Yun

    2014-01-01

    Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea. PMID:25408587

  20. 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

  1. [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.

  2. 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

  3. 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

  4. 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

  5. Rare variants in NR2F2 cause congenital heart defects in humans.

    PubMed

    Al Turki, Saeed; Manickaraj, Ashok K; Mercer, Catherine L; Gerety, Sebastian S; Hitz, Marc-Phillip; Lindsay, Sarah; D'Alessandro, Lisa C A; Swaminathan, G Jawahar; Bentham, Jamie; Arndt, Anne-Karin; Louw, Jacoba; Low, Jacoba; Breckpot, Jeroen; Gewillig, Marc; Thienpont, Bernard; Abdul-Khaliq, Hashim; Harnack, Christine; Hoff, Kirstin; Kramer, Hans-Heiner; Schubert, Stephan; Siebert, Reiner; Toka, Okan; Cosgrove, Catherine; Watkins, Hugh; Lucassen, Anneke M; O'Kelly, Ita M; Salmon, Anthony P; Bu'lock, Frances A; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Brook, J David; Mulder, Barbara; Klaassen, Sabine; Bhattacharya, Shoumo; Devriendt, Koen; Fitzpatrick, David F; Wilson, David I; Mital, Seema; Hurles, Matthew E

    2014-04-01

    Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very significant enrichment (p = 7.7 × 10(-7)) compared to 5,194 control subjects. We identified three additional CHD-affected families with other variants in NR2F2 including a de novo balanced chromosomal translocation, a de novo substitution disrupting a splice donor site, and a 3 bp duplication that cosegregated in a multiplex family. NR2F2 encodes a pleiotropic developmental transcription factor, and decreased dosage of NR2F2 in mice has been shown to result in abnormal development of atrioventricular septa. Via luciferase assays, we showed that all six coding sequence variants observed in individuals significantly alter the activity of NR2F2 on target promoters.

  6. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

    PubMed

    Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Turki, Saeed H Al; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M M; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H; Park, Soo-Mi; Parker, Michael J; Pickardt, Thomas; Pollard, Martin O; Robert, Leema; Roberts, David J; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E F; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mahdi; Klaassen, Sabine; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Devriendt, Koenraad; FitzPatrick, David R; Brook, J David; Hurles, Matthew E

    2016-09-01

    Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.

  7. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

    PubMed Central

    Al Turki, Saeed; Manickaraj, Ashok K.; Mercer, Catherine L.; Gerety, Sebastian S.; Hitz, Marc-Phillip; Lindsay, Sarah; D’Alessandro, Lisa C.A.; Swaminathan, G. Jawahar; Bentham, Jamie; Arndt, Anne-Karin; Low, Jacoba; Breckpot, Jeroen; Gewillig, Marc; Thienpont, Bernard; Abdul-Khaliq, Hashim; Harnack, Christine; Hoff, Kirstin; Kramer, Hans-Heiner; Schubert, Stephan; Siebert, Reiner; Toka, Okan; Cosgrove, Catherine; Watkins, Hugh; Lucassen, Anneke M.; O’Kelly, Ita M.; Salmon, Anthony P.; Bu’Lock, Frances A.; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Brook, J. David; Mulder, Barbara; Klaassen, Sabine; Bhattacharya, Shoumo; Devriendt, Koen; FitzPatrick, David F.; Wilson, David I.; Mital, Seema; Hurles, Matthew E.

    2014-01-01

    Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very significant enrichment (p = 7.7 × 10−7) compared to 5,194 control subjects. We identified three additional CHD-affected families with other variants in NR2F2 including a de novo balanced chromosomal translocation, a de novo substitution disrupting a splice donor site, and a 3 bp duplication that cosegregated in a multiplex family. NR2F2 encodes a pleiotropic developmental transcription factor, and decreased dosage of NR2F2 in mice has been shown to result in abnormal development of atrioventricular septa. Via luciferase assays, we showed that all six coding sequence variants observed in individuals significantly alter the activity of NR2F2 on target promoters. PMID:24702954

  8. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

    PubMed

    Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Turki, Saeed H Al; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M M; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H; Park, Soo-Mi; Parker, Michael J; Pickardt, Thomas; Pollard, Martin O; Robert, Leema; Roberts, David J; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E F; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mahdi; Klaassen, Sabine; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Devriendt, Koenraad; FitzPatrick, David R; Brook, J David; Hurles, Matthew E

    2016-09-01

    Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD. PMID:27479907

  9. 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.

  10. 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

  11. 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

  12. Prevalence of congenital heart defects associated with Down syndrome in Korea.

    PubMed

    Kim, Min-A; Lee, You Sun; Yee, Nan Hee; Choi, Jeong Soo; Choi, Jung Yun; Seo, Kyung

    2014-11-01

    Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea.

  13. 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

  14. Maternal lifestyle factors in pregnancy and congenital heart defects in offspring: review of the current evidence.

    PubMed

    Feng, Yu; Yu, Di; Yang, Lei; Da, Min; Wang, Zhiqi; Lin, Yuan; Ni, Bixian; Wang, Song; Mo, Xuming

    2014-01-01

    The prognosis of children with congenital heart defects(CHDs) continues to improve with advancing surgical techniques; however, lack of information about modifiable risk factors for malformations in cardiovascular development impeded the prevention of CHDs. We investigated an association between maternal lifestyle factors and the risk of CHDs, because epidemiological studies have reported conflicting results regarding maternal lifestyle factors and the risk of CHDs recently. A review published on 2007 provided a summary of maternal exposures associated with an increased risk of CHDs. As part of noninherited risk factors, we conducted a brief overview of studies on the evidence linking common maternal lifestyle factors, specifically smoking, alcohol, illicit drugs, caffeine, body mass index and psychological factors to the development of CHDs in offspring. Women who smoke and have an excessive body mass index(BMI) during pregnancy are suspected to be associated with CHDs in offspring. Our findings could cause public health policy makers to pay more attention to women at risk and could be used in the development of population-based prevention strategies to reduce the incidence and burden of CHDs. However, more prospective studies are needed to investigate the association between maternal lifestyle factors and CHDs. PMID:25385357

  15. 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.

  16. 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

  17. 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.

  18. Care of the Family of an Infant With a Congenital Heart Defect During the NICU Hospitalization.

    PubMed

    Milford, Cheryl A

    2016-01-01

    The family of an infant born with a congenital heart defect is challenged by both the short- and long-term implications of the diagnosis and the neonatal intensive care unit (NICU) hospitalization. Nurses are in a key position to support these families as they deal with the psychological, emotional, and financial impact of the NICU experience. Understanding how families perceive the NICU environment and their grief in losing the desired healthy baby provides the NICU nurse with the knowledge to engage in self-reflection on her or his interpersonal style and caregiving attitudes. Utilizing the concepts and principles of family-centered care and relationship-based practice, nurses can work together with the families to determine how to best meet the families' needs and to find the resources to support them. Families and colleagues appreciate nurses who demonstrate expertise in this approach to family-centered care. This appreciation leads to greater job satisfaction and decreased job-related stress. PMID:26813393

  19. 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.

  20. 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

  1. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

    PubMed Central

    Latrech, Hanane; Skikar, Imane; Gharbi, Mohammed El Hassan; Chraïbi, Abdelmjid; Gaouzi, Ahmed

    2015-01-01

    Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient. Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH) levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula. Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder. PMID:26175918

  2. 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

  3. Proposal of an Integrated Health Care Network System for Patients with Congenital Heart Defects

    PubMed Central

    Pinto Júnior, Valdester Cavalcante; Cavalcante, Rodrigo Cardoso; Branco, Klébia Magalhães P. Castello; Cavalcante, Candice Torres de Melo Bezerra; Maia, Isabel Cristina Leite; de Souza, Nayana Maria Gomes; Penaforte, Kiarelle Lourenço; Mejia, Juan Alberto Cosquillo; Carvalho Junior, Waldemiro

    2016-01-01

    The perspective of the integrated health system has a network of care with multiple integration dimensions among subsystems as nuclear representation, relating the clinical aspects and governance to the representations and collective values. The normative integration aims to ensure coherence between the system of representations and values of society simultaneously with the interfaces of clinical and functional integration. It builds a bridge with governance, which allows, through their skills, management of all system components, encouraging cooperation, communication and information, in order to ensure the population under their responsibility to access excellence services, exceeding their expectations. The integration of care consists of a durable coordination of clinical practices for those who suffer from health problems in order to ensure continuity and full range of the required professional services and organizations, coordinated in time and space, in accordance with the available knowledge. It is possible to establish the type of health equipment for each level of care for patients with congenital heart diseases. This strategy intends to offer timely care in appropriate moments and places, efficiently, operating cooperatively an interdependently, with ongoing exchange of its resources. Thus, situational integration establishes the system connection with the assessment environment that proposes to carry out value judgment, guided by an objective worldview, about an intervention or any of its components, in order to objectify the decision making. PMID:27737410

  4. Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

    PubMed Central

    Lana-Elola, Eva; Watson-Scales, Sheona; Slender, Amy; Gibbins, Dorota; Martineau, Alexandrine; Douglas, Charlotte; Mohun, Timothy; Fisher, Elizabeth MC; Tybulewicz, Victor LJ

    2016-01-01

    Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most common cause of congenital heart defects (CHD), yet the genetic and mechanistic causes of these defects remain unknown. To identify dosage-sensitive genes that cause DS phenotypes, including CHD, we used chromosome engineering to generate a mapping panel of 7 mouse strains with partial trisomies of regions of mouse chromosome 16 orthologous to Hsa21. Using high-resolution episcopic microscopy and three-dimensional modeling we show that these strains accurately model DS CHD. Systematic analysis of the 7 strains identified a minimal critical region sufficient to cause CHD when present in 3 copies, and showed that it contained at least two dosage-sensitive loci. Furthermore, two of these new strains model a specific subtype of atrio-ventricular septal defects with exclusive ventricular shunting and demonstrate that, contrary to current hypotheses, these CHD are not due to failure in formation of the dorsal mesenchymal protrusion. DOI: http://dx.doi.org/10.7554/eLife.11614.001 PMID:26765563

  5. [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.

  6. 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

  7. 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

  8. 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.

  9. 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

  10. 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.

  11. 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

  12. 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

  13. 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

  14. Elevated hsa-miR-99a levels in maternal plasma may indicate congenital heart defects

    PubMed Central

    KEHLER, LARS; BIRO, ORSOLYA; LAZAR, LEVENTE; RIGO, JANOS; NAGY, BALINT

    2015-01-01

    The current standard for prenatal screening is mostly based on biochemical marker tests and the use of ultrasonography. There is no secure stand-alone screening marker for congenital heart defects (CHDs). MicroRNAs (miRNAs) that are associated with cardiogenesis enter the maternal peripheral bloodstream during pregnancy and allow non-invasive prenatal testing (NIPT). The present study investigated the plasma expression profile of fetal hsa-miR-99a in maternal blood. Peripheral blood samples were collected from 39 pregnant patients, comprising 22 with CHD-positive fetuses and 17 with CHD-free controls. miRNAs were isolated from the maternal serum and reverse transcription-quantitative polymerase chain reaction was carried out to determine the expression of hsa-miR-99a. While the miRNA concentrations were almost identical among the affected and control groups (5.54 vs. 6.40 ng/µl), significantly upregulated hsa-miR-99a levels were identified in the affected group (1.78×10−2±3.53×10−2 vs. 1.09×10−3±3.55×10−3 ng/µl, P=0.038). In conclusion, according to the present study, hsa-miR-99a is involved in cardiac malformation and may serve as a biomarker during fetal development, and therefore presents as a candidate for monitoring cardiomyogenesis and potential use as a NIPT-biomarker for fetal CHD. PMID:26623032

  15. 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

  16. 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

  17. Application of new balloon catheters in the treatment of congenital heart defects

    PubMed Central

    Fiszer, Roland; Szkutnik, Małgorzata; Smerdziński, Sebastian; Chodór, Beata; Białkowski, Jacek

    2016-01-01

    Introduction Balloon angioplasty (BAP) and aortic or pulmonary balloon valvuloplasty (BAV, BPV) are well-established treatment options in congenital heart defects. Recently, significant technological progress has been made and new catheters have been implemented in clinical practice. Aim To analyze the results of BAP, BAV and BPV with the new balloon catheter Valver and its second generation Valver II, which the company Balton (Poland) launched and developed. These catheters have not been clinically evaluated yet. Material and methods We performed 64 interventions with Valver I and Valver II. With Valver I the following procedures were performed: 17 BPV (including 9 in tetralogy of Fallot – TOF), 10 BAV and 27 BAP in coarctations of the aorta (CoA) – including 9 native and 18 after surgery. With Valver II ten interventions were done – 3 BPV, 2 pulmonary supravalvular BAP (after switch operations), 2 BAP of recoarctations and 3 other BAP. Age of the patients ranged from a few days to 40 years. Results All procedures were completed successfully, without rupture of any balloon catheters. The pressure gradient drop was statistically significant in all groups: BPV in isolated pulmonary valvular stenosis 28.1 mm Hg (mean), BPV in TOF 18.7 mm Hg, BAV 32.8 mm Hg, BAP in native CoA 15.4 mm Hg and in recoarctations 18.6 mm Hg. In 3 cases during rapid deflation of Valver I, wrinkles of the balloons made it impossible to insert the whole balloon into the vascular sheath (all were removed surgically from the groin). No such complication occured with Valver II. Conclusions Valver balloon catheters are an effective treatment modality in different valvular and vascular stenoses.

  18. 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

  19. 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.

  20. 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.

  1. Health-related quality of life experienced by children with chromosomal abnormalities and congenital heart defects.

    PubMed

    Garcia Guerra, Gonzalo; Joffe, Ari R; Robertson, Charlene M T; Atallah, Joseph; Alton, Gwen; Sauve, Reg S; Dinu, Irina A; Ross, David B; Rebeyka, Ivan M

    2014-03-01

    Long-term outcomes are fundamental in advising parents about the potential future of their children with congenital heart disease (CHD). No published reports have described the health-related quality of life (HRQL) experienced by children with chromosomal abnormalities who had surgery in early infancy for CHD. A study was undertaken to assess HRQL among children with chromosomal abnormalities and CHD. The authors hypothesized that these children have a worse HRQL than healthy children or a cohort of children matched for CHD diagnosis. Infants with chromosomal abnormalities undergoing cardiac surgery for CHD at 6 weeks of age or younger at the Stollery Children's Hospital between July 2000 and June 2005 were included in the study. The HRQL of these infants was assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales completed by their parents at a 4-year follow-up evaluation. The study compared the scores for 16 children with normative data. The children with chromosomal abnormalities and CHD had significantly lower mean total PedsQL (71.3 vs. 87.3; p < 0.0001), Psychosocial Summary (70.3 vs. 86.1; p < 0.0001), and Physical Summary (74.3 vs. 89.2; p = 0.0006) scores. Compared with the matched children, those with chromosomal abnormalities had a significantly lower median total PedsQL (75.0 vs. 84.6; p = 0.03), Physical Summary (79.5 vs. 96.9; p = 0.007), and School Functioning (68.5 vs. 83.0; p = 0.03) scores. A better understanding of the mechanisms and determinants of HRQL in these children has the potential to yield important implications for clinical practice including clarity for treatment decision making as well as determination of targeted supports and services to meet the needs of these children and their families differentially.

  2. 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

  3. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

    PubMed

    Hills, Christine B; Kochilas, Lazaros; Schimmenti, Lisa A; Moller, James H

    2011-10-01

    Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) between 1982 and 2007. A review of the English-language literature for previously published cases, as well as current genetic research findings, was also performed. Thirty-two pediatric patients with congenital heart disease (CHD) and EVC syndrome were identified in the PCCC database. Twenty-eight (88%) had an endocardial cushion defect, with 15 of these having primary failure of atrial septation resulting in CA. Persistent left superior vena cava (LSVC) and pulmonary venous connection abnormalities were common. The incidence of persistent LSVC and pulmonary venous abnormalities were greater than previously reported for patients with EVC. Our study reviews the reported literature and adds 32 additional cases from the PCCC database. Review of the cardiac phenotype in patients with EVC syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. It is speculated that coordinate function between the EVC proteins is required for a cilia-dependent cardiac morphogenesis.

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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.

  10. 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.

  11. 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

  12. Application of new balloon catheters in the treatment of congenital heart defects

    PubMed Central

    Fiszer, Roland; Szkutnik, Małgorzata; Smerdziński, Sebastian; Chodór, Beata; Białkowski, Jacek

    2016-01-01

    Introduction Balloon angioplasty (BAP) and aortic or pulmonary balloon valvuloplasty (BAV, BPV) are well-established treatment options in congenital heart defects. Recently, significant technological progress has been made and new catheters have been implemented in clinical practice. Aim To analyze the results of BAP, BAV and BPV with the new balloon catheter Valver and its second generation Valver II, which the company Balton (Poland) launched and developed. These catheters have not been clinically evaluated yet. Material and methods We performed 64 interventions with Valver I and Valver II. With Valver I the following procedures were performed: 17 BPV (including 9 in tetralogy of Fallot – TOF), 10 BAV and 27 BAP in coarctations of the aorta (CoA) – including 9 native and 18 after surgery. With Valver II ten interventions were done – 3 BPV, 2 pulmonary supravalvular BAP (after switch operations), 2 BAP of recoarctations and 3 other BAP. Age of the patients ranged from a few days to 40 years. Results All procedures were completed successfully, without rupture of any balloon catheters. The pressure gradient drop was statistically significant in all groups: BPV in isolated pulmonary valvular stenosis 28.1 mm Hg (mean), BPV in TOF 18.7 mm Hg, BAV 32.8 mm Hg, BAP in native CoA 15.4 mm Hg and in recoarctations 18.6 mm Hg. In 3 cases during rapid deflation of Valver I, wrinkles of the balloons made it impossible to insert the whole balloon into the vascular sheath (all were removed surgically from the groin). No such complication occured with Valver II. Conclusions Valver balloon catheters are an effective treatment modality in different valvular and vascular stenoses. PMID:27625686

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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.

  3. Association of GDF1 rs4808863 with fetal congenital heart defects: a case–control study

    PubMed Central

    Zhang, Juan; Wu, Qingqing; Wang, Li; Li, Xiaofei; Ma, Yuqing; Yao, Ling

    2015-01-01

    Background Congenital heart defects (CHDs) are the most common fetal defects and the most important cause of child mortality and morbidity. Objective To investigate the association between growth/differentiation factor 1 (GDF1) polymorphisms and fetal CHDs, by evaluating the association of GDF1 rs4808863 with fetal CHDs. Design A case–control study. Setting Beijing, China. Participants We selected 124 fetuses with a CHD and a normal karyotype and normal array-based comparative genomic hybridisation analysis and compared them with 124 normal fetuses matched for gestational age and sex. Fetuses with a CHD, from 20 to 32 weeks of gestation were included. Fetuses with any chromosomal abnormalities, and fetuses from multiple pregnancies and those carried by pregnant women with chronic diseases, were excluded from this research. DNA extraction and genotyping were carried out for all cases to investigate the genotype distributions of GDF1 rs4808863. Results A significant difference was noted for the CT phenotype of GDF1 rs4808863 between the controls and the fetuses with CHDs using homozygote and heterozygote comparisons. The minor allele (T allele) of GDF1 rs4808863 was associated with an increased risk of CHD (p<0.05). A statistically significant difference between controls and fetuses with CHDs was noted in a comparison with the mutation genotype CT+TT and wild-type genotype CC (p<0.05) using dominant modal analysis. After stratification analysis, the CT phenotype, the minor allele (T allele) and the mutation genotype CT+TT of the rs4808863 polymorphism were associated with atrioventricular septal defect (AVSD), left ventricular outflow tract obstruction (LVOTO) and left–right laterality defects (p<0.05). Conclusions Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left–right laterality defects. PMID:26656983

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. Procalcitonin as a biomarker of bacterial infection in pediatric patients after congenital heart surgery

    PubMed Central

    Chakravarti, Sujata B; Reformina, Diane A; Lee, Timothy M; Malhotra, Sunil P; Mosca, Ralph S; Bhatla, Puneet

    2016-01-01

    Background: Bacterial infection (BI) after congenital heart surgery (CHS) is associated with increased morbidity and is difficult to differentiate from systemic inflammatory response syndrome caused by cardiopulmonary bypass (CPB). Procalcitonin (PCT) has emerged as a reliable biomarker of BI in various populations. Aim: To determine the optimal PCT threshold to identify BI among children suspected of having infection following CPB. Setting and Design: Single-center retrospective observational study. Materials and Methods: Medical records of all the patients admitted between January 2013 and April 2015 were reviewed. Patients in the age range of 0-21 years of age who underwent CHS requiring CPB in whom PCT was drawn between postoperative days 0-8 due to suspicion of infection were included. Statistical Analysis: The Wilcoxon rank-sum test was used for nonparametric variables. The diagnostic performance of PCT was evaluated using a receiver operating characteristic (ROC) curve. Results: Ninety-eight patients were included. The median age was 2 months (25th and 75th interquartile of 0.1-7.5 months). Eleven patients were included in the BI group. The median PCT for the BI group (3.42 ng/mL, 25th and 75th interquartile of 2.34-5.67) was significantly higher than the median PCT for the noninfected group (0.8 ng/mL, 25th and 75th interquartile 0.38-3.39), P = 0.028. The PCT level that yielded the best compromise between the sensitivity (81.8%) and specificity (66.7%) was 2 ng/mL with an area under the ROC curve of 0.742. Conclusion: A PCT less than 2 ng/mL makes BI unlikely in children suspected of infection after CHS. PMID:27212844

  9. 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

  10. 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

  11. 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

  12. Introduction: December 2015 HeartWeek Issue of Cardiology in the Young - Highlights of HeartWeek 2015: Challenges and Dilemmas of Pediatric Cardiac Care including Heart Failure in Children and Congenital Abnormalities of the Coronary Arteries.

    PubMed

    Jacobs, Jeffrey P

    2015-12-01

    This December Issue of Cardiology in the Young represents the 13th annual publication in Cardiology in the Young generated from the two meetings that composed "HeartWeek in Florida". "HeartWeek in Florida", the joint collaborative project sponsored by the Cardiac Centre at the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, together with Johns Hopkins All Children's Heart Institute of Saint Petersburg, Florida, averages over 1000 attendees every year and is now recognised as one of the major planks of continuing medical and nursing education for those working in the fields of diagnosis and treatment of cardiac disease in the foetus, neonate, infant, child, and adult. "HeartWeek in Florida" combines the International Symposium on Congenital Heart Disease, organised by All Children's Hospital and Johns Hopkins Medicine, and entering its 16th year, with the Annual Postgraduate Course in Paediatric Cardiovascular Disease, organised by The Children's Hospital of Philadelphia entering its 19th year. This December 2015 Issue of Cardiology in the Young features highlights of the two meetings that compose HeartWeek. Johns Hopkins All Children's Heart Institute's 15th Annual International Symposium on Congenital Heart Disease was held at the Renaissance Vinoy Resort & Golf Club, Saint Petersburg, Florida, from Friday, 6 February, 2015, to Monday, 9 February, 2015. This Symposium was co-sponsored by The American Association for Thoracic Surgery and its special focus was "Congenital Abnormalities of the Coronary Arteries". The Children's Hospital of Philadelphia's annual meeting - Cardiology 2015, the 18th Annual Update on Paediatric and Congenital Cardiovascular Disease: "Challenges and Dilemmas" - was held at the Hyatt Regency Scottsdale Resort and Spa at Gainey Ranch, Scottsdale, Arizona, from Wednesday, 11 February, 2015, to Sunday, 15 February, 2015. We would like to acknowledge the tremendous contributions made to paediatric and congenital cardiac care

  13. 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

  14. 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

  15. 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

  16. 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

  17. The Importance of Patient-Specific Preoperative Factors: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database

    PubMed Central

    Jacobs, Jeffrey Phillip; O'Brien, Sean M.; Pasquali, Sara K.; Kim, Sunghee; Gaynor, J. William; Tchervenkov, Christo Ivanov; Karamlou, Tara; Welke, Karl F.; Lacour-Gayet, Francois; Mavroudis, Constantine; Mayer, John E.; Jonas, Richard A.; Edwards, Fred H.; Grover, Frederick L.; Shahian, David M.; Jacobs, Marshall Lewis

    2014-01-01

    Background The most common fonns of risk adjustment for pediatric and congenital heart surgery used today are based mainly on the estimated risk of mortality of the primary procedure of the operation. The goals of this analysis were to assess the association of patient-specific preoperative factors with mortality and to determine which of these preoperative factors to include in future pediatric and congenital cardiac surgical risk models. Methods All index cardiac operations in The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) during 2010 through 2012 were eligible for inclusion. Patients weighing less than 2.5 kg undergoing patent ductus arteriosus closure were excluded. Centers with more than 10% missing data and patients with missing data for discharge mortality or other key variables were excluded. Rates of discharge mortality for patients with or without specific preoperative factors were assessed across age groups and were compared using Fisher's exact test. Results In all, 25,476 operations were included (overall discharge mortality 3.7%, n = 943). The prevalence of common preoperative factors and their associations with discharge mortality were determined. Associations of the following preoperative factors with discharge mortality were all highly significant (p < 0.0001) for neonates, infants, and children: mechanical circulatory support, renal dysfunction, shock, and mechanical ventilation. Conclusions Current STS-CHSD risk adjustment is based on estimated risk of mortality of the primary procedure of the operation as well as age, weight, and prematurity. The inclusion of additional patient-specific preoperative factors in risk models for pediatric and congenital cardiac surgery could lead to increased precision in predicting risk of operative mortality and comparison of observed to expected outcomes. PMID:25262395

  18. 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.

  19. 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

  20. 3D-manufactured patient-specific models of congenital heart defects for communication in clinical practice: feasibility and acceptability

    PubMed Central

    Biglino, Giovanni; Capelli, Claudio; Wray, Jo; Schievano, Silvia; Leaver, Lindsay-Kay; Khambadkone, Sachin; Giardini, Alessandro; Derrick, Graham; Jones, Alexander; Taylor, Andrew M

    2015-01-01

    Objectives To assess the communication potential of three-dimensional (3D) patient-specific models of congenital heart defects and their acceptability in clinical practice for cardiology consultations. Design This was a questionnaire-based study in which participants were randomised into two groups: the ‘model group’ received a 3D model of the cardiac lesion(s) being discussed during their appointment, while the ‘control group’ had a routine visit. Setting Outpatient clinic, cardiology follow-up visits. Participants 103 parents of children with congenital heart disease were recruited (parental age: 43±8 years; patient age: 12±6 years). In order to have a 3D model made, patients needed to have a recent cardiac MRI examination; this was the crucial inclusion criterion. Interventions Questionnaires were administered to the participants before and after the visits and an additional questionnaire was administered to the attending cardiologist. Main outcome measures Rating (1–10) for the liking of the 3D model, its usefulness and the clarity of the explanation received were recorded, as well as rating (1–10) of the parental understanding and their engagement according to the cardiologist. Furthermore, parental knowledge was assessed by asking them to mark diagrams, tick keywords and provide free text answers. The duration of consultations was recorded and parent feedback collected. Results Parents and cardiologists both found the models to be very useful and helpful in engaging the parents in discussing congenital heart defects. Parental knowledge was not associated with their level of education (p=0.2) and did not improve following their visit. Consultations involving 3D models lasted on average 5 min longer (p=0.02). Conclusions Patient-specific models can enhance engagement with parents and improve communication between cardiologists and parents, potentially impacting on parent and patient psychological adjustment following treatment. However, in

  1. 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

  2. Analysis of Surgical Mortality for Congenital Heart Defects Using RACHS-1 Risk Score in a Brazilian Single Center

    PubMed Central

    Cavalcante, Candice Torres de Melo Bezerra; de Souza, Nayana Maria Gomes; Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães Pereira Castello; Pompeu, Ronald Guedes; Teles, Andreia Consuelo de Oliveira; Cavalcante, Rodrigo Cardoso; de Andrade, Giselle Viana

    2016-01-01

    INTRODUCTION: Risk Adjustment for Congenital Heart Surgery 1 (RACHS-1) score is a simple model that can be easily applied and has been widely used for mortality comparison among pediatric cardiovascular services. It is based on the categorization of several surgical palliative or corrective procedures, which have similar mortality in the treatment of congenital heart disease. OBJECTIVE: To analyze the in-hospital mortality in pediatric patients (<18 years) submitted to cardiac surgery for congenital heart disease based on RACHS-1 score, during a 12-year period. METHODS: A retrospective date analysis was performed from January 2003 to December 2014. The survey was divided in two periods of six years long each, to check for any improvement in the results. We evaluated the numbers of procedures performed, complexity of surgery and hospital mortality. RESULTS: Three thousand and two hundred and one surgeries were performed. Of these, 3071 were able to be classified according to the score RACHS-1. Among the patients, 51.7% were male and 47.5% were younger than one year of age. The most common RACHS-1 category was 3 (35.5%). The mortality was 1.8%, 5.5%, 14.9%, 32.5% and 68.6% for category 1, 2, 3, 4 and 6, respectively. There was a significant increase in the number of surgeries (48%) and a significant reduction in the mortality in the last period analysed (13.3% in period I and 10.4% in period II; P=0.014). CONCLUSION: RACHS-1 score was a useful score for mortality risk in our service, although we are aware that other factors have an impact on the total mortality. PMID:27737404

  3. Predicting economic and medical outcomes based on risk adjustment for congenital heart surgery classification of pediatric cardiovascular surgical admissions.

    PubMed

    Raucci, Frank J; Hoke, Tracey R; Gutgesell, Howard P

    2014-12-01

    The Risk Adjustment for Congenital Heart Surgery (RACHS-1) classification is an established method for predicting mortality for congenital heart disease surgery. It is unknown if this extends to the cost of hospitalization or if differences in economic and medical outcomes exist in certain subpopulations. Using data obtained from the University HealthSystem Consortium, we examined inpatient resource use by patients with International Classification of Diseases, Ninth Revision, procedure codes representative of RACHS-1 classifications 1 through 5 and 6 from 2006 to 2012. A total of 15,453 pediatric congenital heart disease surgical admissions were analyzed, with overall mortality of 4.5% (n = 689). As RACHS-1 classification increased, the total cost of hospitalization, hospital charges, total length of stay, length of intensive care unit stay, and mortality increased. Even when controlled for RACHS-1 classification, black patients (n = 2034) had higher total costs ($96,884 ± $3,392, p = 0.003), higher charges ($318,313 ± $12,018, p <0.001), and longer length of stay (20.4 ± 0.7 days, p <0.001) compared with white patients ($85,396 ± $1,382, $285,622 ± $5,090, and 18.0 ± 0.3 days, respectively). Hispanic patients had similarly disparate outcomes ($104,292 ± $2,759, $351,371 ± $10,627, and 23.0 ± 0.6 days, respectively) and also spent longer in the intensive care unit (14.9 ± 0.5 days, p <0.001). In conclusion, medical and economic measures increased predictably with increased procedure risk, and admissions for black and Hispanic patients were longer and more expensive than those of their white counterparts but without increased mortality.

  4. Transient Early Embryonic Expression of Nkx2-5 Mutations Linked to Congenital Heart Defects in Human Causes Heart Defects in Xenopus laevis

    PubMed Central

    Bartlett, Heather L.; Sutherland, Lillian; Kolker, Sandra J.; Welp, Chelsea; Tajchman, Urszula; Desmarais, Vera; Weeks, Daniel L.

    2007-01-01

    Nkx2-5 is a homeobox containing transcription factor that is conserved and expressed in organisms that form hearts. Fruit flies lacking the gene (tinman) fail to form a dorsal vessel, mice that are homozygous null for Nkx2-5 form small, deformed hearts, and several human cardiac defects have been linked to dominant mutations in the Nkx2-5 gene. The Xenopus homologs (XNkx2-5) of two truncated forms of Nkx2-5 that have been identified in humans with congenital heart defects were used in the studies reported here. mRNAs encoding these mutations were injected into single cell Xenopus embryos, and heart development was monitored. Our results indicate that the introduction of truncated XNkx2-5 variants leads to three principle developmental defects. The atrial septum and the valve of the atrioventricular canal were both abnormal. In addition, video microscopic timing of heart contraction indicated that embryos injected with either mutant form of XNkx2-5 have conduction defects. PMID:17685485

  5. [CORRECTION OF HEMOSTASIS WITH BLOOD PRODUCTS IN THE SURGICAL TREATMENT OF CONGENITAL HEART DISEASE IN INFANTS AND YOUNG CHILDREN].

    PubMed

    Rybka, M M; Samsonova, N N; Klimovich, L G; Rogalskaya, E A; Khichagov, D Ya; Tataryan, F E

    2015-01-01

    The article deals with the safety and efficiency of recombinant activated factor VII (Coagil VII, Russia) and prothrombin complex concentrate (protromplex-600, Baxter Austria) in the neonatal and pediatric cardiac surgery. The study included 56 children aged from 7 days to 5.5 years underwent surgery with cardiopulmonary bypass for congenital heart defects repair. Clinical and laboratory evidences suggest that Coagil VII and protromplex-600 effective for bleeding stop. The drugs have no negative impact on hemodynamics. We did not identify allergic reactions and thrombosis associated with the introduction of drugs in the pen operative period.

  6. 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

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. Signs of deterioration in infants discharged home following congenital heart surgery in the first year of life: a qualitative study

    PubMed Central

    Tregay, Jenifer; Brown, Katherine L; Crowe, Sonya; Bull, Catherine; Knowles, Rachel L; Smith, Liz; Wray, Jo

    2016-01-01

    Aims To describe the ways in which parents recognise and make decisions about their child's symptoms following discharge home after congenital heart interventions in the first year of life and their experiences of seeking help. Methods This was a qualitative study involving semistructured interviews with parents. Twenty-one parents were recruited to the study. Parents all had a child who had congenital heart surgery in their first year of life between September 2009 and October 2013 at one of three UK cardiac centres; the children had either died or were readmitted as an emergency following initial discharge. Results Some parents were unable to identify any early warning signs. Others described symptoms of deterioration including changes in feeding and appearance, respiratory distress and subtle behavioural changes that may not be routinely highlighted to parents at discharge. Several barriers to accessing prompt medical assistance were identified including parents feeling that their concerns were not taken seriously, long wait times and lack of protocols at A&E. Conclusions Our study highlights behavioural symptoms as being a potentially underemphasised sign of deterioration and identifies a number of barriers to parents accessing support when they are concerned. It is important that parents are encouraged to seek advice at the earliest opportunity and that those health professionals at the front line have access to the information they need in order to respond in an appropriate and timely way. A role for home monitoring was also noted as potentially useful in identifying at risk children who appear clinically well. PMID:26823534

  12. 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

  13. Critical review of the epidemiologic literature regarding the association between congenital heart defects and exposure to trichloroethylene.

    PubMed

    Bukowski, John

    2014-08-01

    The most recent Integrated Risk Information System review of trichloroethylene (TCE; CAS# 79-01-6) has suggested that congenital heart defects (CHD) are a critical endpoint associated with exposure to this solvent. This conclusion was drawn, at least partly, from epidemiologic data, including several relatively recent studies. The current article critically reviews this epidemiologic literature, focusing on study quality and consistency. Literature searches uncovered approximately a dozen studies that specifically addressed associations between TCE and congenital malformations in eight populations. Four of these reported positive associations between TCE and heart defects, with significant relative risks as high as 5-6 in some subgroups. However, each of the positive studies had substantial design or analytical flaws that could easily explain the results, thereby limiting the conclusions that can be drawn. Five studies found no positive association with TCE, and several of these reported substantially fewer cases than expected despite similar/higher exposures compared to positive studies, further detracting from causal conclusions. Overall, this epidemiologic literature provides no substantive or consistent evidence linking TCE to CHD.

  14. 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.

  15. 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.

  16. 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

  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. 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

  19. Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects

    PubMed Central

    Jacobs, Russell E.; Lopez-Burks, Martha E.; Choi, Hojae; Wikenheiser, Jamie; Hallgrimsson, Benedikt; Jamniczky, Heather A.; Fraser, Scott E.; Lander, Arthur D.; Calof, Anne L.

    2016-01-01

    Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes. Here, we use a conditional/invertible genetic strategy to identify the cell lineage(s) responsible for the development of heart defects in a Nipbl-deficient mouse model of Cornelia de Lange Syndrome, in which global yet subtle transcriptional dysregulation leads to development of atrial septal defects (ASDs) at high frequency. Using an approach that allows for recombinase-mediated creation or rescue of Nipbl deficiency in different lineages, we uncover complex interactions between the cardiac mesoderm, endoderm, and the rest of the embryo, whereby the risk conferred by genetic abnormality in any one lineage is modified, in a surprisingly non-additive way, by the status of others. We argue that these results are best understood in the context of a model in which the risk of heart defects is associated with the adequacy of early progenitor cell populations relative to the sizes of the structures they must eventually form. PMID:27606604

  20. Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.

    PubMed

    Santos, Rosaysela; Kawauchi, Shimako; Jacobs, Russell E; Lopez-Burks, Martha E; Choi, Hojae; Wikenheiser, Jamie; Hallgrimsson, Benedikt; Jamniczky, Heather A; Fraser, Scott E; Lander, Arthur D; Calof, Anne L

    2016-09-01

    Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes. Here, we use a conditional/invertible genetic strategy to identify the cell lineage(s) responsible for the development of heart defects in a Nipbl-deficient mouse model of Cornelia de Lange Syndrome, in which global yet subtle transcriptional dysregulation leads to development of atrial septal defects (ASDs) at high frequency. Using an approach that allows for recombinase-mediated creation or rescue of Nipbl deficiency in different lineages, we uncover complex interactions between the cardiac mesoderm, endoderm, and the rest of the embryo, whereby the risk conferred by genetic abnormality in any one lineage is modified, in a surprisingly non-additive way, by the status of others. We argue that these results are best understood in the context of a model in which the risk of heart defects is associated with the adequacy of early progenitor cell populations relative to the sizes of the structures they must eventually form. PMID:27606604

  1. 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.

  2. 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…

  3. 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.

  4. Stratification of complexity in congenital heart surgery: comparative study of the Risk Adjustment for Congenital Heart Surgery (RACHS-1) method, Aristotle basic score and Society of Thoracic Surgeons-European Association for Cardio- Thoracic Surgery (STS-EACTS) mortality score

    PubMed Central

    Cavalcanti, Paulo Ernando Ferraz; Sá, Michel Pompeu Barros de Oliveira; dos Santos, Cecília Andrade; Esmeraldo, Isaac Melo; Chaves, Mariana Leal; Lins, Ricardo Felipe de Albuquerque; Lima, Ricardo de Carvalho

    2015-01-01

    Objective To determine whether stratification of complexity models in congenital heart surgery (RACHS-1, Aristotle basic score and STS-EACTS mortality score) fit to our center and determine the best method of discriminating hospital mortality. Methods Surgical procedures in congenital heart diseases in patients under 18 years of age were allocated to the categories proposed by the stratification of complexity methods currently available. The outcome hospital mortality was calculated for each category from the three models. Statistical analysis was performed to verify whether the categories presented different mortalities. The discriminatory ability of the models was determined by calculating the area under the ROC curve and a comparison between the curves of the three models was performed. Results 360 patients were allocated according to the three methods. There was a statistically significant difference between the mortality categories: RACHS-1 (1) - 1.3%, (2) - 11.4%, (3)-27.3%, (4) - 50 %, (P<0.001); Aristotle basic score (1) - 1.1%, (2) - 12.2%, (3) - 34%, (4) - 64.7%, (P<0.001); and STS-EACTS mortality score (1) - 5.5 %, (2) - 13.6%, (3) - 18.7%, (4) - 35.8%, (P<0.001). The three models had similar accuracy by calculating the area under the ROC curve: RACHS-1- 0.738; STS-EACTS-0.739; Aristotle- 0.766. Conclusion The three models of stratification of complexity currently available in the literature are useful with different mortalities between the proposed categories with similar discriminatory capacity for hospital mortality. PMID:26107445

  5. 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

  6. [Use of indicators of anaerobic metabolism in the evaluation of the functional reserve of the cardiovascular system in patients operated on in the past for congenital heart defects].

    PubMed

    Mochalov, O Iu; Gritsenko, V V; Gavrilenkov, V I

    1984-05-01

    The correlation of most important parameters of the central hemodynamics with the intensity of anaerobic metabolism was studied in 65 patients operated on having congenital heart diseases and in 37 healthy patients under increased physical exercise. A mild decrease of the functional reserve of the cardiovascular system (by 7-15%) was revealed in the patients as compared with the control group.

  7. 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.

  8. [Use of indicators of anaerobic metabolism in the evaluation of the functional reserve of the cardiovascular system in patients operated on in the past for congenital heart defects].

    PubMed

    Mochalov, O Iu; Gritsenko, V V; Gavrilenkov, V I

    1984-05-01

    The correlation of most important parameters of the central hemodynamics with the intensity of anaerobic metabolism was studied in 65 patients operated on having congenital heart diseases and in 37 healthy patients under increased physical exercise. A mild decrease of the functional reserve of the cardiovascular system (by 7-15%) was revealed in the patients as compared with the control group. PMID:6464264

  9. 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…

  10. The European Congenital Heart Defects Surgery Database experience: Pediatric European Cardiothoracic Surgical Registry of the European Association for Cardio-Thoracic Surgery.

    PubMed

    Maruszewski, Bohdan; Tobota, Zdzislaw

    2002-01-01

    The initial purpose of collecting data on the outcome of congenital heart surgery procedures across Europe was to make possible comparison of results and definition of mortality and morbidity risk factors as well as targeting research activities. The European Congenital Heart Surgeons Foundation, established in 1992, created the European Congenital Heart Defects Database, precursor to today's Pediatric European Cardiothoracic Surgical Registry. In 1999, initiatives of the Society of Thoracic Surgeons and the European Association for Cardio-Thoracic Surgery resulted in a series of conferences aimed at arriving at a standardized nomenclature and reporting strategies as a foundation for an international database. In April 2000 the International Congenital Heart Surgery Nomenclature and Database Project published a minimum dataset of 21 items and lists of 150 diagnoses, 200 procedures, and 32 complications, as well as 28 extracardiac anomalies and 17 preoperative risk factors. Since January 2000 the Pediatric European Cardiothoracic Surgical Registry has officially operated from the Department of Cardiothoracic Surgery at the Children's Memorial Health Institute in Warsaw, Poland, under the auspices of the European Association for Cardio-Thoracic Surgery and the responsibility of Bohdan Maruszewski. As of March 2001, 84 cardiothoracic units from 33 countries had registered in the database and data on almost 4,000 procedures have been collected. Participation in the database is free of charge through the internet for all participants. Development of data validation protocols is a work in progress.

  11. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

    PubMed Central

    Devriendt, K; Matthijs, G; Van Dael, R; Gewillig, M; Eyskens, B; Hjalgrim, H; Dolmer, B; McGaughran, J; Bröndum-Nielsen, K; Marynen, P; Fryns, J P; Vermeesch, J R

    1999-01-01

    Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental retardation, and a characteristic hyperactive, impul