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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. PMID:27504381

  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. Neuropsychological Status in Children After Repair of Acyanotic Congenital Heart Disease

    PubMed Central

    Quartermain, Michael D.; Ittenbach, Richard F.; Flynn, Thomas B.; Gaynor, J. William; Zhang, Xuemei; Licht, Daniel J.; Ichord, Rebecca N.; Nance, Michael L.; Wernovsky, Gil

    2016-01-01

    OBJECTIVES The majority of previous studies that described the neuropsychological effects of cardiopulmonary bypass (CPB) in children were performed after surgery in infancy for complex congenital heart disease (CHD). We sought to limit confounding variables and isolate potential independent effects of CPB by describing neuropsychological function in school-aged children after repair of acyanotic CHD. METHODS This was a prospective study of patients who were aged 5 to 18 years and undergoing repair of acyanotic CHD. Neuropsychological testing battery included assessment of intelligence, memory, motor, attention, executive function, and behavior before and 6 months after CPB. The independent effects of anesthesia, surgery, and hospitalization on neuropsychological function were assessed by testing a surgical control group of patients who were undergoing repair of pectus deformities. In addition, an outpatient group of children with mild CHD were enrolled to assess the practice effects of serial testing. RESULTS Patients included CPB (n = 35), surgical control (n = 19), and nonsurgical (n = 12). Groups were comparable in age, gender, and race and demonstrated similar unadjusted group mean scores on baseline and 6-month follow-up neuropsychological testing. When adjusted for practice effects, the CPB group performed similar to the non-CPB groups in all assessed neuropsychological domains, with the exception of 1 of 4 tests of executive function. CONCLUSIONS When controlling for the non-CPB effects of surgery (eg, hospitalization, anesthesia, thoracotomy) and the practice effects of serial testing, there were no consistent independent effects of CPB on neuropsychological status in a cohort of children and adolescents 6 months after repair of acyanotic CHD. PMID:20660542

  4. Heparin need of the patients with cyanotic congenital heart disease during cardiopulmonary bypass. Comparison of cyanotic, acyanotic, rheumatic and atherosclerotic subjects.

    PubMed

    Babacan, M K; Tasdemir, O; Yakut, C; Zorlutuna, Y; Karagöz, H; Göl, K; Bayazit, K

    1989-01-01

    Four groups of patients were studied. Group I: Congenital cyanotic heart disease (CCHD), consisting of 24 subjects aged 5 to 28 (1.4); 18 males and 4 females. Group II: Acyanotic congenital heart disease (ACHD), consisting of 34 patients aged 5 to 42 (20.1); 17 males and 17 females. Group III: Rheumatic heart disease (RHD), consisting of 30 patients aged 11-54 (42.4); 9 males and 21 females. Group IV: Atherosclerotic heart disease (AHD), consisting of 35 patients aged 36 to 65 (49.2); 33 males and 2 females. The haematocrit value (Hct) was the highest in the CCHD group. Total amount of heparin (mg/kg) used during cardiopulmonary bypass was 5.4 in CCHD, 4.66 in ACHD, 4.8 in RHD and 4.6 in AHD group. Mean protamine values was 4.02; 4; 4.03; and 4 respectively. Although the difference of Hct value was statistically different between CCHD and RHD group (p less than 0.001), heparin need was not (p less than 0.1). One-way analysis of variance (F test) showed no difference for heparin need between the four groups (F3.119 = 0.64). Prothrombin time (PT) and activated partial thromboplastin time (aPTT) showed a positive correlation (r = 0.36 and r = 0.25) with heparin need in CCHD group but no correlation was found in RHD group. PMID:2745517

  5. Evaluation of Neurodevelopment and Factors Affecting it in Children With Acyanotic Congenital Cardiac Disease

    PubMed Central

    Ozmen, Ayten; Terlemez, Semiha; Tunaoglu, Fatma Sedef; Soysal, Sebnem; Pektas, Ayhan; Cilsal, Erman; Koca, Ulker; Kula, Serdar; Deniz Oguz, Ayse

    2016-01-01

    Background: The rate of congenital heart disease is 0.8% in all live births. The majority of this, however, is acyanotic congenital heart disease. The survival rate of children with cardiac disease has increased with the developments provided in recent years and their lifetime is extended. Objectives: This study aims to evaluate neurodevelopment of children with uncomplicated acyanotic congenital heart disease in preschool period and determine the factors affecting their neurodevelopmental process. Patients and Methods: 132 children with acyanotic congenital heart disease aged 6 - 72 months were involved in the study. Mental development and intelligence levels of patients under 2 years old were assessed by using Bayley Development Scale-III, and Stanford Binet Intelligence test was employed for patients over 2 years old. Denver Developmental Screening Test II was applied to all patients for their personal-social, fine motor, gross motor and language development. Results: The average age of patients (67 girls, 65 boys) included in the study was 35.2 ± 19.6 months. It was determined that there were subnormal mental level in 13 (10%) patients and at least one specific developmental disorder in 33 (25%) patients. Bayley Mental Development Scale score of patients who had received incubator care in perinatal period was found significantly low (88 ± 4.2) compared to those with no incubator care (93.17 ± 8.5) (P = 0.028). Low educational level of father was established to be linked with low mental development scores at the age of 2 and following that age (P < 0.05). Iron deficiency anemia was discovered to be related to low psychometric test scores at every age (P < 0.05). Conclusions: Neurodevelopmental problems in children with acyanotic congenital heart disease were found higher compared to those in society. Mental development and intelligence levels of patients were determined to be closely associated with receiving incubator care, father’s educational level and

  6. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  7. Caring for infants with congenital heart disease and their families.

    PubMed

    Saenz, R B; Beebe, D K; Triplett, L C

    1999-04-01

    Congenital heart defects are classified into two broad categories: acyanotic and cyanotic lesions. The most common acyanotic lesions are ventricular septal defect, atrial septal defect, atrioventricular canal, pulmonary stenosis, patent ductus arteriosus, aortic stenosis and coarctation of the aorta. Congestive heart failure is the primary concern in infants with acyanotic lesions. The most common cyanotic lesions are tetralogy of Fallot and transposition of the great arteries. In infants with cyanotic lesions, hypoxia is more of a problem than congestive heart failure. Suspicion of a congenital heart defect should be raised by the presence of feeding difficulties in association with tachypnea, sweating and subcostal recession, or severe growth impairment. Follow-up of infants with congenital heart disease should follow the schedule of routine care for healthy babies with some modifications, such as administration of influenza and pneumococcal vaccines. More frequent follow-up is required if congestive heart failure is present. Family psychosocial issues should also be addressed. One of the main roles for the family physician is to help the parents put the diagnosis in perspective by clarifying expectations and misconceptions, and answering specific questions. PMID:10208705

  8. Congenital Heart Information Network

    MedlinePlus

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  9. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  10. 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: ...

  11. 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 ...

  12. Congenital heart defect - corrective surgery

    MedlinePlus

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm ... 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/ ...

  13. 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: ...

  14. Impact of Congenital Heart Defects

    MedlinePlus

    ... complex lesions, limitations are common. Some children with congenital heart disease have developmental delay or other learning difficulties. What ... defects? Successful treatment requires highly specialized care. Severe congenital heart disease requires extensive financial resources both in and out ...

  15. 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

  16. 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.

  17. 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

  18. 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

  19. Common Tests for Congenital Heart Defects

    MedlinePlus

    ... Heart Defect - Fetal Circulation • Care & Treatment • 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: ...

  20. 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: ...

  1. 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

  2. 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 ...

  3. Understand Your Risk for Congenital Heart Defects

    MedlinePlus

    ... health problems than their parents. Learn more about genetic counseling . Single gene: Rarely, congenital heart defects are caused ... of Congenital Heart Defects • Understand Your Risk Introduction Genetic Counseling • Symptoms & Diagnosis • Care & Treatment • Tools & Resources Related Sites ...

  4. Consensus on timing of intervention for common congenital heart diseases: part II - cyanotic heart defects.

    PubMed

    Rao, P Syamasundar

    2013-08-01

    The purpose of this review/editorial is to discuss how and when to treat the most common cyanotic congenital heart defects (CHDs); the discussion of acyanotic heart defects was presented in a previous editorial. By and large, the indications and timing of intervention are decided by the severity of the lesion. While some patients with acyanotic CHD may not require surgical or transcatheter intervention because of spontaneous resolution of the defect or mildness of the defect, the majority of cyanotic CHD will require intervention, mostly surgical. Total surgical correction is the treatment of choice for tetralogy of Fallot patients although some patients may need to be palliated initially by performing a modified Blalock-Taussig shunt. For transposition of the great arteries, arterial switch (Jatene) procedure is the treatment of choice, although Rastelli procedure is required for patients who have associated ventricular septal defect (VSD) and pulmonary stenosis (PS). Some of these babies may require Prostaglandin E1 infusion and/or balloon atrial septostomy prior to corrective surgery. In tricuspid atresia patients, most babies require palliation at presentation either with a modified Blalock-Taussig shunt or pulmonary artery banding followed later by staged Fontan (bidirectional Glenn followed later by extracardiac conduit Fontan conversion usually with fenestration). Truncus arteriosus babies are treated by closure of VSD along with right ventricle to pulmonary artery conduit; palliative banding of the pulmonary artery is no longer recommended. Total anomalous pulmonary venous connection babies require anastomosis of the common pulmonary vein with the left atrium at presentation. Other defects should also be addressed by staged correction or complete repair depending upon the anatomy/physiology. Feasibility, safety and effectiveness of treatment of cyanotic CHD with currently available medical, transcatheter and surgical methods are well established and should

  5. Health in adults with congenital heart disease.

    PubMed

    Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. PMID:27451323

  6. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

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

    1988-01-01

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

  7. Congenital heart disease in the Niger Delta region of Nigeria: a four-year prospective echocardiographic analysis

    PubMed Central

    Otaigbe, BE; Tabansi, PN

    2014-01-01

    Summary Introduction Echocardiographic evaluation remains the gold standard for the diagnosis of structural cardiac disease. No previous prospective studies have been done on the prevalence of congenital heart disease (CHD) in the Niger Delta area. This study was done to determine the frequency and pattern of congenital heart disease, using echocardiography as a diagnostic tool. Methods All patients presenting to the Paediatric Cardiology clinics of two centres, the University of Port Harcourt Teaching Hospital and the Paediatric Care Hospital between April 2009 and March 2013, were recruited and all had echocardiography performed. Results Prevalence of CHD in this study was 14.4 per 1 000 children; 277 (83.4%) of the patients had acyanotic CHD and 55 (16.6%) had cyanotic CHD. Ventricular septal defect and tetralogy of Fallot were the commonest acyanotic and cyanotic heart defects, respectively Conclusion The high prevalence of CHD in this study is the highest in the country and Africa, and may be attributable to the increased oil spillage and gas flaring from petroleum exploitation in this region. PMID:25388927

  8. Critical congenital heart disease screening

    PubMed Central

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

    2016-01-01

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

  9. 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

  10. Arrhythmias in Complex Congenital Heart Disease

    PubMed Central

    Hayward, Robert M.; Tseng, Zian H.

    2014-01-01

    Late after surgical repair of complex congenital heart disease, atrial arrhythmias are a major cause of morbidity, and ventricular arrhythmias and sudden cardiac death are a major cause of mortality. The six cases in this article highlight common challenges in the management of arrhythmias in the adult congenital heart disease population. PMID:25197326

  11. Chronic hypoxia down‐regulates tight junction protein ZO‐2 expression in children with cyanotic congenital heart defect

    PubMed Central

    Jenkins, Emma L.; Caputo, Massimo; Angelini, Gianni D.

    2015-01-01

    Abstract Aims Tight junction protein zonula occludens protein 2 (ZO‐2) is a member of the membrane‐associated guanylate kinases protein family known to be expressed at tight junctions of epithelial and endothelial cells and at adherens junctions (AJs) in cardiomyocytes. Little is known about ZO‐2 expression and function in the human heart. Here, we examined the hypothesis that chronic hypoxia down‐regulates ZO‐2 expression in human myocardium and cultured rat cardiomyocytes. Methods and results Patients with a diagnosis of cyanotic (n = 10) or acyanotic (n = 10) Tetralogy of Fallot undergoing surgical repair were used to examine ZO‐2 messenger RNA and protein expression by real time‐PCR, immunohistochemistry, and western blotting. A model of cultured rat cardiomyocytes was used to measure ZO‐2 and AJ proteins levels in response to hypoxia and to investigate ZO‐2 cellular localization. We showed that ZO‐2 is expressed in myocardial tissue in acyanotic and cyanotic children with congenital heart defects. ZO‐2 was specifically down‐regulated in cyanotic myocardium at both the messenger RNA and protein levels when compared with acyanotic patients. This specific down‐regulation can be mimicked in cultured rat cardiomyocytes by treating them with hypoxic conditions confirming that ZO‐2 gene down‐regulation is specifically due to cyanosis. Furthermore, in addition to its cytoplasmic expression, ZO‐2 showed nuclear expression in cultured rat cardiomyocytes suggesting potential role in transcription regulation. Conclusions Hypoxia down‐regulates ZO‐2 expression in both cyanotic patient's myocardium and cultured rat cardiomyocytes. This down‐regulation suggest an involvement of ZO‐2 in cardiac remodelling of AJs in cyanotic children and may explain the greater susceptibility of cyanotic patients to corrective heart surgery.

  12. 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

  13. 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

  14. Pulmonary Hypertension and Congenital Heart Disease.

    PubMed

    Roth, Todd S; Aboulhosn, Jamil A

    2016-08-01

    Pulmonary arterial hypertension in congenital heart disease (PAH-CHD) is a frequent complication in adults with congenital heart disease. Regardless of etiology, the optimal treatment strategy for this difficult population is challenging. The new frontier of targeted PAH therapies has demonstrated improved functional capacity in the various phenotypes of PAH-CHD, with work currently in progress scrutinizing outcomes. In those who fail conventional medical therapy, heart and heart-lung (block) transplantation become the final therapeutic options, with the role of ventricular assist devices and the total artificial heart still under investigation in this group. PMID:27443136

  15. Brain Volume and Neurobehavior in Newborns with Complex Congenital Heart Defects

    PubMed Central

    Owen, Mallory; Shevell, Michael; Donofrio, Mary; Majnemer, Annette; McCarter, Robert; Vezina, Gilbert; Bouyssi-Kobar, Marine; Evangelou, Iordanis; Freeman, Dena; Weisenfeld, Neil; Limperopoulos, Catherine

    2015-01-01

    Objective To investigate the relationship between tissue-specific alterations in brain volume and neurobehavioral status in newborns with complex congenital heart defects preoperatively. Study design Three-dimensional volumetric magnetic resonance imaging was used to calculate tissue-specific brain volumes and a standardized neurobehavioral assessment was performed to assess neurobehavioral status in 35 full-term newborns admitted to the hospital before cardiopulmonary bypass surgery. Multiple linear regression models were performed to evaluate relationships between neurobehavioral status and brain volumes. Results Reduced subcortical gray matter (SCGM) volume and increased cerebrospinal fluid (CSF) volume were associated with poor behavioral state regulation (SCGM, P = .04; CSF, P = .007) and poor visual orienting (CSF, P = .003). In cyanotic newborns, reduced SCGM was associated with higher overall abnormal scores on the assessment (P = .001) and poor behavioral state regulation (P = .04), and increased CSF volume was associated with poor behavioral state regulation (P = .02), and poor visual orienting (P = .02). Conversely, acyanotic newborns showed associations between reduced cerebellar volume and poor behavioral state regulation (P = .03). Conclusion Abnormal neurobehavior is associated with impaired volumetric brain growth before open heart surgery in infants with complex congenital heart defects. This study highlights a need for routine preoperative screening and early intervention to improve neurodevelopmental outcomes. PMID:24367983

  16. 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 ...

  17. 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

  18. Flying and congenital heart disease.

    PubMed

    Macartney, F J

    1984-03-01

    Only those congenital defects carrying a very low risk of complication (either before or after surgical correction) were considered. Atrial Septal Defects--(a) Ostium primum defects should be treated with caution either before or after surgical correction because of the risk of progressive conduction disorders and mitral regurgitation. (b) Ostium secundum defects could be considered for licensing (if the defect is small) or with surgical repair if the right ventricular systolic pressure is normal. (c) Sinus venosus defects--if too small to require surgical repair, licensing may be considered provided ambulatory electrocardiographic monitoring shows no evidence of arrhythmias. Surgery increases the risk of sino-atrial disease, thus licensing should be permitted only where there is no evidence of arrhythmia and adequate cardiological follow-up is possible. Ventricular Septal Defects--Subjects with very small defects not requiring surgical closure may be considered for licensing. Subjects who have had surgical closure have a risk of arrhythmias and should be carefully evaluated. Pulmonary Stenosis--If mild (either before or after surgery) may be licensed, but regular assessment perhaps including right heart catheterization is needed to demonstrate stability of the lesion. Persistent Ductus Arteriosus--Surgical closure should be recommended on diagnosis and need not affect licensing. Isolated Bicuspid Aortic Valve--Need not debar from licensing, but careful annual examination (with electrocardiogram 2-D echocardiography and fluroscopy ) is required to detect calcification, stenosis or regurgitation. Coarctation of aorta--Subjects who have had a repair before the age of 12 years may be considered for licensing after examination of other risk factors (blood pressure at rest and on exercise in particular). Those repaired over the age of 12 may be considered for restricted licensing if normotensive. These recommendations will need review in the light of further long

  19. Indications for Heart Transplantation in Congenital Heart Disease

    PubMed Central

    Siân Pincott, E; Burch, M

    2011-01-01

    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. PMID:22548027

  20. 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

  1. 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 ...

  2. Air pollution and congenital heart defects.

    PubMed

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

    2013-07-01

    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations. PMID:23623715

  3. 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. PMID:22217490

  4. Frequency and pattern of congenital heart defects in a tertiary care cardiac hospital of Karachi

    PubMed Central

    Pate, Najma; Jawed, Shama; Nigar, Nagina; Junaid, Fariha; Wadood, Asia Abdul; Abdullah, Fatima

    2016-01-01

    Objective: To determine the current frequency and pattern of distribution of congenital heart defects (CHD) at National Institute of Cardiovascular Diseases (NICVD), with the age at which initial diagnosis of CHD was made and the age at which the participant first visited the study center. Methods: This is a descriptive and prospective hospital based study conducted in the pediatric cardiology unit outpatient department of NICVD. This study included all the patients, irrespective of age, having confirmed diagnosis of CHD on the basis of echocardiographic report. The collected data was entered and analyzed by using Statistical Package for Social Sciences v 20.0. Results: Out of 1100 cases of congenital heart defects 1003 could be analyzed. There are 565 males (56.3%) and 438 females (43.6%). Total 609 cases (60.6%) were of simple acyanotic lesions and 387 (38.6%) were complex cyanotic lesions. In simple lesions septal defects constitute 64.9% and obstructive lesions were 11.0%. Tetralogy of fallot(TOF) was the commonest CHD and cyanotic lesion accounted for 24.4% of the total 1003 cases followed by Ventricular septal defect (VSD) 21.5%, Atrial septal defect (ASD) 9.3% and Patent ductus arteriosus (PDA) 8.6%. Pulmonary stenosis(PS) was the most common obstructive lesion making 3.1% of the CHD. In 147 (14.5%) cases combination of simple defects were encountered and the commonest combination was ASD with VSD in 34 cases. Conclusion: Congenital Heart Defects are very common in our setup and early detection of CHD is increasing. Overall burden of CHD is also increasing therefore a proper population based study on a large scale is needed to estimate the prevalence accurately. PMID:27022350

  5. 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

  6. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    PubMed

    Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

    2015-11-01

    Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations. PMID:26471823

  7. 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

  8. 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.

  9. 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 ...

  10. Implantation of Total Artificial Heart in Congenital Heart Disease

    PubMed Central

    Adachi, Iki; Morales, David S. L.

    2014-01-01

    In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation. In the case presented here, a 17 year-old patient with congenital transposition of the great arteries (CCTGA) experienced progressively worsening HF due to his congenital condition. He was hospitalized multiple times and received an implantable cardioverter defibrillator (ICD). However, his condition soon deteriorated to end-stage HF with multisystem organ failure. Due to the patient's grave clinical condition and the presence of complex cardiac lesions, the decision was made to proceed with a TAH. The abnormal arrangement of the patient's ventricles and great arteries required modifications to the TAH during implantation. With the TAH in place, the patient was able to return home and regain strength and physical well-being while awaiting a donor heart. He was successfully bridged to heart transplantation 5 months after receiving the device. This report highlights the TAH is feasible even in patients with structurally abnormal hearts, with technical modification. PMID:25078059

  11. 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

  12. Computerized screening of children congenital heart diseases.

    PubMed

    Sepehri, Amir A; Hancq, Joel; Dutoit, Thierry; Gharehbaghi, Arash; Kocharian, Armen; Kiani, A

    2008-11-01

    In this paper, we propose a method for automated screening of congenital heart diseases in children through heart sound analysis techniques. Our method relies on categorizing the pathological murmurs based on the heart sections initiating them. We show that these pathelogical murmur categories can be identified by examining the heart sound energy over specific frequency bands, which we call, Arash-Bands. To specify the Arash-Band for a category, we evaluate the energy of the heart sound over all possible frequency bands. The Arash-Band is the frequency band that provides the lowest error in clustering the instances of that category against the normal ones. The energy content of the Arash-Bands for different categories constitue a feature vector that is suitable for classification using a neural network. In order to train, and to evaluate the performance of the proposed method, we use a training data-bank, as well as a test data-bank, collectively consisting of ninety samples (normal and abnormal). Our results show that in more than 94% of cases, our method correctly identifies children with congenital heart diseases. This percentage improves to 100%, when we use the Jack-Knife validation method over all the 90 samples. PMID:18718691

  13. 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

  14. The Right Heart in Congenital Heart Disease, Mechanisms and Recent Advances

    PubMed Central

    Guihaire, Julien; Haddad, François; Mercier, Olaf; Murphy, Daniel J.; Wu, Joseph C.; Fadel, Elie

    2012-01-01

    In patients with congenital heart disease, the right heart may support the pulmonary or the systemic circulation. Several congenital heart diseases primarily affect the right heart including Tetralogy of Fallot, transposition of great arteries, septal defects leading to pulmonary vascular disease, Ebstein anomaly and arrhythmogenic right ventricular cardiomyopathy. In these patients, right ventricular dysfunction leads to considerable morbidity and mortality. In this paper, our objective is to review the mechanisms and management of right heart failure associated with congenital heart disease. We will outline pearls and pitfalls in the management of congenital heart disease affecting the right heart and highlight recent advances in the field. PMID:23483726

  15. 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

  16. Adult congenital heart disease and pulmonary arterial hypertension: the Texas Adult Congenital Heart Program experience.

    PubMed

    Franklin, Wayne J; Parekh, Dhaval R; Safdar, Zeenat

    2011-11-01

    Congenital heart disease (CHD) is a common structural defect of the heart or major blood vessels. Patients with adult congenital heart disease (ACHD) have medical needs that are distinct from those of pediatric patients with CHD, and the transition into adult health care is important for management of the patient with ACHD. A large proportion of patients with CHD develop diseases and complications associated with the long-term stress of intracardiac shunts. Pulmonary arterial hypertension (PAH) is a significant complication of some CHD lesions. The treatment of these patients remains challenging due to their combined heart and lung disease, and multidisciplinary care is ofen necessitated for a variety of secondary conditions. A number of treatment options are available for the management of PAH associated with CHD, including prostanoids, phosphodiesterase type-5 inhibitors, and endothelin receptor antagonists. This article discusses the diagnosis and management of such ACHD patients with PAH. PMID:22104452

  17. Heart Failure in Adult Congenital Heart Disease: Nonpharmacologic Treatment Strategies.

    PubMed

    LeMond, Lisa; Mai, Tuan; Broberg, Craig S; Muralidaran, Ashok; Burchill, Luke J

    2015-11-01

    In early stages, heart failure (HF) in adult congenital heart disease (ACHD) remains an elusive diagnosis. Many ACHD patients seem well-compensated owing to chronic physical and psychological adaptations. HF biomarkers and cardiopulmonary exercise tests are often markedly abnormal, although patients report stable health and good quality of life. Treatment differs from acquired HF. Evidence for effective drug therapy in ACHD-related HF is lacking. Residual ventricular, valvular, and vascular abnormalities contribute to HF pathophysiology, leading to an emphasis on nonpharmacologic treatment strategies. This article reviews emerging perspectives on nonpharmacologic treatment strategies, including catheter-based interventions, surgical correction, and palliative care. PMID:26471822

  18. 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

  19. Evaluation of Adults With Congenital Heart Disease.

    PubMed

    Graziani, Francesca; Delogu, Angelica Bibiana

    2016-03-01

    The clinical approach to adults with congenital heart diseases (ACHDs) is unique in cardiovascular medicine because these patients encompass a broad range of presentations. Each patient, despite having similar diagnosis, will be anatomically and physiologically unlike others within ACHD population, in relation to the type of repair, age at repair, associated defects, with specific long-term risk factors and complications. Furthermore, as many patients will not complain of symptoms, clinical evaluation and diagnostic testing must also be based on the underlying main diagnostic category, with complete standardized lesion-specific clinical protocols, investigating all known risk factors specific for each congenital heart disease and performed as part of screening for significant long-term complications. The first part of this review will focus on clinical history, physical examination, and the most important diagnostic testing in ACHD population. The second part of the article will focus on some clinical issues we have to face in our daily practice, such as heart failure, cyanosis, and pulmonary hypertension. Furthermore, as survival rates of ACHD population continue to improve and patients with this condition live longer, we will briefly report on a new clinical concern regarding the impact of acquired morbidities like coronary artery disease that appear to be of greater importance in defining outcome in older patients with ACHD. PMID:26957402

  20. [Congenital heart defects in adulthood : Supraventricular tachycardia].

    PubMed

    Hebe, J

    2016-06-01

    Supraventricular tachycardia (SVT) based on congenital substrates, such as accessory pathways or dual atrioventricular nodal properties, occur with an increased probability linked to specific congenital heart defects (CHDs). In the literature, the association of Ebstein's anomaly with accessory pathways and with Mahaim fibers is most prominent. Compared with patients with otherwise normal hearts, the clinical relevance of SVT is typically more severe and therefore antiarrhythmia treatment is a necessity in many cases. Diagnostics, pharmaceutical treatment, and interventional therapy of SVT in patients with CHD are often demanding owing to anatomical, hemodynamic, and electro-anatomical peculiarities. The use of antiarrhythmic medication is often limited because of intolerable side effects and a lack of reliability in suppressing arrhythmia relapses in the long term. Within the last 15-20 years catheter ablation has thus become established as the first-choice treatment for SVT, even in patients with CHD. However, rates of success, recurrence, and risks are still inferior to those observed in patients with a normally functioning heart owing to the co-existence of vascular and cardiac anomalies, surgically created alterations, an unusual electro-anatomy, and lower tolerance to hemodynamic changes. Successful treatment in patients with CHDs and SVT requires a deep understanding and knowledge of all the disciplines discussed above and should only be practiced in dedicated centers, as patient numbers are small and therefore experience is limited. PMID:27225166

  1. Haemostatic defects in cyanotic congenital heart disease.

    PubMed Central

    Henriksson, P; Värendh, G; Lundström, N R

    1979-01-01

    An investigation of defects of the haemostatic mechanism in 41 children with cyanotic congenital heart disease concluded that such abnormalities were common and normally involved factors synthesised in the liver, that is the vitamin K dependent factors (rothrombin, factors VII and IX) and factor V. No evidence was found of activation of the coagulation or fibrinolytic systems. The defects can be explained by deficient synthesis resulting from systemic hypoxia as well as from sluggishness of the local microcirculation caused by high blood viscosity. Vitamin K parenterally had no demonstrable effect. Replacement of these factors, possibly combined with measures to improve the microcirculation, therefore, appears to be the appropriate treatment. PMID:426953

  2. Screening for Critical Congenital Heart Disease.

    PubMed

    Oster, Matthew E; Kochilas, Lazaros

    2016-03-01

    Screening for critical congenital heart disease (CCHD) was added to the United States Recommended Uniform Screening Panel in 2011. Since that time, CCHD screening with pulse oximetry has become nearly universal for newborns born in the United States. There are various algorithms in use. Although the goal of the screening program is to identify children who may have CCHD, most newborns who have a low oxygen saturation will not have CCHD. Further study is needed to determine optimal guidelines for CCHD screening in special settings such as the neonatal intensive care unit, areas in high altitude, and home births. PMID:26876122

  3. Congenital Heart Disease and Primary Ciliary Dyskinesia.

    PubMed

    Harrison, Mike John; Shapiro, Adam J; Kennedy, Marcus Peter

    2016-03-01

    Through the better understanding of the genetics and clinical associations of Primary Ciliary Dyskinesia (PCD), an autosomal recessive disorder of ciliary motility and mucociliary clearance, the association between PCD and heterotaxic congenital heart disease (CHD) has been established. In parallel, research into the cause of CHD has elucidated further the role of ciliary function on the development of normal cardiovascular structure. Increased awareness by clinicians regarding this elevated risk of PCD in patients with CHD will allow for more comprehensive screening and identification of cases in this high-risk group with earlier diagnosis leading to improved health outcomes. PMID:26545972

  4. Atrial Macroreentry in Congenital Heart Disease

    PubMed Central

    Twomey, Darragh J; Sanders, Prashanthan; Roberts-Thomson, Kurt C

    2015-01-01

    Macroreentrant atrial tachycardia is a common complication following surgery for congenital heart disease (CHD), and is often highly symptomatic with potentially significant hamodynamic consequences. Medical management is often unsuccessful, requiring the use of invasive procedures. Cavotricuspid isthmus dependent flutter is the most common circuit but atypical circuits also exist, involving sites of surgical intervention or areas of scar related to abnormal hemodynamics. Ablation can be technically challenging, due to complex anatomy, and difficulty with catheter stability. A thorough assessment of the pa-tients status and pre-catheter ablation planning is critical to successfully managing these patients. PMID:25308809

  5. 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

  6. Congenital heart surgery in Houston. The early years.

    PubMed Central

    Takach, T J; Ott, D A

    1997-01-01

    During the 1950s and 1960s, major advances in medicine significantly influenced the development and application of surgery as treatment for congenital heart disease. The Texas Medical Center in Houston was at the forefront of these pioneering efforts and thus played an important role in the development of the art and science of congenital heart surgery. Images PMID:9339518

  7. 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

  8. Genetic testing in congenital heart disease: ethical considerations.

    PubMed

    Lin, Kimberly Y; D'Alessandro, Lisa C A; Goldmuntz, Elizabeth

    2013-01-01

    On March 16, 2012, the Ethics of the Heart 2012: Ethical and Policy Challenges in Pediatric and Adult Congenital Heart Disease Conference took place in Philadelphia, Pennsylvania. The first session focused on the ethics surrounding genetic testing in patients with congenital heart disease. Summarized here is the introductory presentation given by Dr Elizabeth Goldmuntz entitled "The Role of Genetic Testing in Congenital Heart Disease," followed by a case presentation given by Dr Lisa D'Alessandro. The case and the panel discussion that ensued highlight several ethical principles and challenges in this unique patient population. PMID:23799755

  9. 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

  10. Three dimensional echocardiography in congenital heart defects

    PubMed Central

    Shirali, Girish S.

    2008-01-01

    Three dimensional echocardiography (3DE) is a new, rapidly evolving modality for cardiac imaging. Important technological advances have heralded an era where practical 3DE scanning is becoming a mainstream modality. We review the modes of 3DE that can be used. The literature has been reviewed for articles that examine the applicability of 3DE to congenital heart defects to visualize anatomy in a spectrum of defects ranging from atrioventricular septal defects to mitral valve abnormalities and Ebstein's anomaly. The use of 3DE color flow to obtain echocardiographic angiograms is illustrated. The state of the science in quantitating right and left ventricular volumetrics is reviewed. Examples of novel applications including 3DE transesophageal echocardiography and image-guided interventions are provided. We also list the limitations of the technique, and discuss potential future developments in the field. PMID:20300232

  11. 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

  12. 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

  13. Magnetic resonance spectroscopy in congenital heart disease.

    PubMed Central

    Miall-Allen, V. M.; Kemp, G. J.; Rajagopalan, B.; Taylor, D. J.; Radda, G. K.; Haworth, S. G.

    1996-01-01

    OBJECTIVE: To determine the feasibility of studying myocardial and skeletal muscle bioenergetics using 31P magnetic resonance spectroscopy (MRS) in babies and young children with congenital heart disease. SUBJECTS: 16 control subjects aged 5 months to 24 years and 18 patients with CHD, aged 7 months to 23 years, of whom 11 had cyanotic CHD, five had cardiac failure, and two had had a Senning procedure. DESIGN: 31P MRS was carried out using a 1.9 Tesla horizontal 65 cm bore whole body magnet to study the myocardium in 10 patients and skeletal muscle (gastrocnemius) in 14 patients, eight of whom were exercised, together with appropriate controls. RESULTS: In hypoxaemic patients, in skeletal muscle at rest intracellular pH (pHi) was abnormally high [7.06 (SEM 0.04) v 7.04 (0.05), P < 0.01] and showed a positive correlation with haemoglobin (P < 0.03). On exercise, hypoxaemic patients fatigued more quickly but end-exercise pHi and phosphocreatine recovery were normal, implying that an equivalent but smaller amount of work had been performed. End-exercise ADP concentration was lower. On recovery, the initial rate of phosphocreatine resynthesis was low. Skeletal muscle bioenergetics were within normal limits in those in heart failure. In the myocardium, the phosphocreatine/ATP ratio was similar in controls and hypoxaemic subjects, but low in those in heart failure. CONCLUSIONS: In heart failure, the myocardial phosphocreatine/ATP ratio was reduced, as in adults, while resting skeletal muscle studies were normal. By contrast, hypoxaemic children had normal myocardial bioenergetics, but showed skeletal muscle alkalinity, and energy reserves were more readily depleted on exercise. On recovery, the initially slow phosphocreatine resynthesis rate reflects a low rate of mitochondrial ATP synthesis, probably due to an inadequate oxygen supply. 31P MRS offers a safe, non-invasive method of studying myocardial and skeletal muscle bioenergetics in children as young as 5 months

  14. [Adult patients with congenital heart disease].

    PubMed

    Grabitz, R G; Kaemmerer, H; Mohr, F-W

    2013-01-01

    Unlike a few decades ago, today most patients with congenital heart disease reach adulthood after intervention or reparative surgery. As complete correction is generally not possible, a patient population with great complexity and a particular challenge to medical management is rising and a regular follow-up is mandatory. The aim of care is the timely recognition of residual or associated problems. Frequency and intensity of follow-up examinations depend on type and complexity of the lesion. The standard repertoire at follow-up consists of a specific history, clinical examination, ECG, Holter-monitoring, exercise tests, and echocardiography. Depending on the indication, cardio-MRI, CT scan, and sophisticated cardiac catheterization may become necessary. Long-term complications like rhythm disturbances, pulmonary hypertension, or heart failure are frequent, despite optimal care. Acute complications like arrhythmias, infective endocarditis, cerebral events, cerebral abscesses, aortic dissection, pulmonary embolism, and bleeding have to be recognized early and treated appropriately. Additional focus has to be placed on counseling and management of noncardiac disease and surgery, pregnancy and delivery, exercise at work and in private life, driving, and insurance issues. Training and certification of physicians as well as the establishment of specialized centers will help to ensure high quality health care for the affected patient population. PMID:23318541

  15. Bone quality and nutritional status in children with congenital heart defects.

    PubMed

    Laura Gabriela, Chico-Barba; Nalleli, Vivanco-Muñoz; Dalia Patricia, Avilés-Toxqui; Juan, Tamayo; Rodolfo, Rivas-Ruíz; Alfonso, Buendía-Hernández; Patricia, Clark

    2012-01-01

    The aim of this study was to evaluate bone quality and nutritional status in children with congenital heart defects (CHDs) using quantitative ultrasound. A cross-sectional study was designed. A population-based sample of 75 children with CHD (age: 0--6yr) from the Department of Pediatric Cardiology at the National Cardiology Institute "Ignacio Chávez" was compared with 106 healthy children during 2009. Weight and height were determined in both groups; bone status was measured at the radius and tibia as speed of sound (SOS). Nutritional status was defined according to the Waterloo and Gómez index. Chi-square test, Student's t-test, and analysis of variance were used to determine the statistical differences. A linear regression analysis adjusted by age, weight, height, type of CHD, and birth weight was made. Both groups were similar in sex distribution, prematurity, and birth weight. Acyanotic cardiopathy with increased pulmonary flow was the most frequent (61.3%). Prevalence of malnutrition was higher in CHD group compared with healthy children (p<0.001), and radius SOS was lower in children with CHD compared with healthy children (3484±180 vs 3575±159m/s, respectively; 95% confidence interval: 39.8--143; p=0.001). A positive correlation was found between CHD and reduced SOS in the adjusted linear regression model, r²=0.455 (p<0.001). Children with CHD have lower SOS radius values compared with healthy children, suggesting reduced bone quality regardless of the nutritional status. PMID:22402118

  16. 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

  17. 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

  18. 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 ...

  19. 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

  20. MicroRNAs in congenital heart disease

    PubMed Central

    Smith, Tanya; Rajakaruna, Cha; Caputo, Massimo

    2015-01-01

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

  1. 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. PMID:24775619

  2. 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. PMID:24774396

  3. 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.

  4. Center Variation in Cost and Outcomes for Congenital Heart Surgery

    PubMed Central

    Pasquali, Sara K.; Gaies, Michael G.; Jacobs, Jeffrey P.; Gaynor, J. William; Jacobs, Marshall L.

    2013-01-01

    While overall outcomes for children undergoing heart surgery have improved, significant variation in outcome across hospitals remains. This review discusses variation in cost and outcomes across centers performing congenital heart surgery, potential underlying mechanisms, and efforts to reduce variation and improve outcome. PMID:23331604

  5. 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

  6. The emerging adult population with congenital heart disease.

    PubMed

    Williams, William G.; Webb, Gary D.

    2000-01-01

    The successes in managing infants and children with congenital heart disease have led to an emerging population of adult patients. As we enter this new century, the majority of patients with congenital heart disease will be adults, not children. It is important to maintain our commitment for continuing care to the emerging adult population. Psycho-social issues, including employment and pregnancy counseling, are required as well as the ongoing need for medical and occasionally surgical intervention. The health care system needs to develop supra-regional tertiary referral centers for care of these patients and provide information sharing and support for community-based physicians interested in the welfare of the adult with congenital heart disease. Copyright 2000 by W.B. Saunders Company PMID:11486200

  7. Echocardiography for the Assessment of Congenital Heart Defects in Calves.

    PubMed

    Mitchell, Katharyn Jean; Schwarzwald, Colin Claudio

    2016-03-01

    Congenital heart disease should be considered when evaluating calves with chronic respiratory signs, failure to thrive, poor growth, or if a murmur is heard on physical examination. Echocardiography is currently the gold standard for diagnosing congenital heart defects. A wide variety of defects, either alone or in combination with a ventricular septal defect, are possible. A standardized approach using sequential segmental analysis is required to fully appreciate the nature and severity of more complex malformations. The prognosis for survival varies from guarded to poor and depends on the hemodynamic relevance of the defects and the degree of cardiac compensation. PMID:26922111

  8. Computational fluid dynamics models and congenital heart diseases

    PubMed Central

    Pennati, Giancarlo; Corsini, Chiara; Hsia, Tain-Yen; Migliavacca, Francesco

    2013-01-01

    Mathematical modeling is a powerful tool to investigate hemodynamics of the circulatory system. With improving imaging techniques and detailed clinical investigations, it is now possible to construct patient-specific models of reconstructive surgeries for the treatment of congenital heart diseases. These models can help clinicians to better understand the hemodynamic behavior of different surgical options for a treated patient. This review outlines recent advances in mathematical modeling in congenital heart diseases, the discoveries and limitations these models present, and future directions that are on the horizon. PMID:24432298

  9. Advances in cardiac magnetic resonance imaging of congenital heart disease.

    PubMed

    Driessen, Mieke M P; Breur, Johannes M P J; Budde, Ricardo P J; van Oorschot, Joep W M; van Kimmenade, Roland R J; Sieswerda, Gertjan Tj; Meijboom, Folkert J; Leiner, Tim

    2015-01-01

    Due to advances in cardiac surgery, survival of patients with congenital heart disease has increased considerably during the past decades. Many of these patients require repeated cardiovascular magnetic resonance imaging to assess cardiac anatomy and function. In the past decade, technological advances have enabled faster and more robust cardiovascular magnetic resonance with improved image quality and spatial as well as temporal resolution. This review aims to provide an overview of advances in cardiovascular magnetic resonance hardware and acquisition techniques relevant to both pediatric and adult patients with congenital heart disease and discusses the techniques used to assess function, anatomy, flow and tissue characterization. PMID:25552386

  10. The Role of Beta-Blocker in Heart Failure in Adults with Congenital Heart Disease.

    PubMed

    Norozi, Kambiz

    2014-01-01

    Thanks to the enormous progress in the field of cardiac surgery and paediatric cardiology since the mid of 20th century, more and more children with congenital heart defects reach the adulthood. This on the other hand encounter physician and patients various problems due to late complications after the heart surgery like congestive heart failure, arrhythmia and sudden death. One of the challenging area is the medical management of heart failure in these patients with complex anatomy and hemodynamics. The lack of evidence of the effectiveness of the anti congestive medications in this population in from of large randomized controlled trials, makes it difficult to establish universally accepted therapy guidelines. In this article we will review the evidence of the beta-blockers in heart failure in patients with congenital heart disease. Also we will discuss the mechanisms of heart failure in this patient's cohort and will review the literature with respect to the use of neurohormonal antagonists in congenital heart disease. There is an urgent need to initiate well-designed clinical trials to prove if the positive results of neurohormonal blockade in acquired heart failure in adults can be translated in patients with congenital heart disease. PMID:25198738

  11. Management of pulmonary arterial hypertension associated with congenital heart disease.

    PubMed

    Togănel, Rodica; Benedek, I; Suteu, Carmen; Blesneac, Cristina

    2007-01-01

    Congenital heart diseases are the most common congenital malformations and account for about eight cases per 1000 births and are often associated with pulmonary arterial hypertension. Increased shear stress and the excess flow through the pulmonary vascular bed due to a systemic-to-pulmonary shunt lead to the development of pulmonary vascular disease and an increase in pulmonary vascular resistance. Without surgical repair approximately 30% of patients develop pulmonary vascular disease. Eisenmenger syndrome represents the extreme end of pulmonary arterial hypertension with congenital heart disease. We summarized the current therapeutic options for pulmonary arterial hypertension; conventional treatments including calcium channel blockers, anticoagulation, digitalis, diuretics, and new treatment: prostacyclin, bosentan, sildenafil, ambrisentan. Preliminary data of new therapies are encouraging with disease significantly improved natural history, but there is need for more evidence-based data. PMID:18333354

  12. 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…

  13. Use of pimobendan in feline congenital heart failure.

    PubMed

    Wainberg, Shannon

    2013-12-01

    A 6-month-old domestic shorthair cat was referred for evaluation of sudden lethargy and tachypnea following ovariohysterectomy. Upon failure of improvement with supportive care, a cardiologist identified congenital tricuspid dysplasia with signs of heart failure. Furosemide, enalapril, and pimobendan were used to reduce clinical signs and improve length and quality of life. PMID:24293678

  14. Use of pimobendan in feline congenital heart failure

    PubMed Central

    Wainberg, Shannon

    2013-01-01

    A 6-month-old domestic shorthair cat was referred for evaluation of sudden lethargy and tachypnea following ovariohysterectomy. Upon failure of improvement with supportive care, a cardiologist identified congenital tricuspid dysplasia with signs of heart failure. Furosemide, enalapril, and pimobendan were used to reduce clinical signs and improve length and quality of life. PMID:24293678

  15. 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.

  16. Congenital Heart Defects in Adults : A Field Guide for Cardiologists

    PubMed Central

    Romfh, Anitra; Pluchinotta, Francesca Romana; Porayette, Prashob; Valente, Anne Marie; Sanders, Stephen P.

    2013-01-01

    Advances in cardiology and cardiac surgery allow a large proportion of patients with congenital heart defects to survive into adulthood. These patients frequently develop complications characteristic of the defect or its treatment. Consequently, adult cardiologists participating in the care of these patients need a working knowledge of the more common defects. Occasionally, patients with congenital heart defects such as atrial septal defect, Ebstein anomaly or physiologically corrected transposition of the great arteries present for the first time in adulthood. More often patients previously treated in pediatric cardiology centers have transitioned to adult congenital heart disease centers for ongoing care. Some of the more important defects in this category are tetralogy of Fallot, transposition of the great arteries, functionally single ventricle defects, and coarctation. Through this field guide, we provide an overview of the anatomy of selected defects commonly seen in an adult congenital practice using pathology specimens and clinical imaging studies. In addition, we describe the physiology, clinical presentation to the adult cardiologist, possible complications, treatment options, and outcomes. PMID:24294540

  17. [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. PMID:25650280

  18. 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.

  19. 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

  20. Arrhythmia diagnosis and management throughout life in congenital heart disease.

    PubMed

    Clark, Bradley C; Berul, Charles I

    2016-03-01

    Arrhythmias, covering bradycardia and tachycardia, occur in association with congenital heart disease (CHD) and as a consequence of surgical repair. Symptomatic bradycardia can occur due to sinus node dysfunction or atrioventricular block secondary to either unrepaired CHD or surgical repair in the area of the conduction system. Tachyarrhythmias are common in repaired CHD due to scar formation, chamber distension or increased chamber pressure, all potentially leading to abnormal automaticity and heterogeneous conduction properties as a substrate for re-entry. Atrial arrhythmias occur more frequently, but ventricular tachyarrhythmias may be associated with an increased risk of sudden cardiac death, notably in patients with repaired tetralogy of Fallot or aortic stenosis. Defibrillator implantation provides life-saving electrical therapy for hemodynamically unstable arrhythmias. Ablation procedures with 3D electroanatomic mapping technology offer a viable alternative to pharmacologic or device therapy. Advances in electrophysiology have allowed for successful management of arrhythmias in patients with congenital heart disease. PMID:26642231

  1. Somatic growth following congenital heart surgery in economically underprivileged children

    PubMed Central

    Kasar, Pankajkumar A; Suresh Kumar, Raghavan Nair; Raman Kutty, Vellappillil

    2011-01-01

    Objectives To assess the impact of congenital heart surgery on anthropometric scores of growth in economically disadvantaged children. Methods A cohort of 100 economically disadvantaged children was followed up after cardiac surgery for their nutritional recovery. Weight, height and body mass index for age were measured just before surgery and at a median period of 48.1 months (range 9–59.9 months) after surgery. Z scores of the age-adjusted variables were computed and McNemar OR was calculated for odds of improvement. Results The mean weight for age of the cohort increased from 14.74±5.76 to 23.83±7.83 kg. In malnourished children (weight for age Z score ≤−2) the mean weight changed from −3.01 to −1.6 (p<0.05), the median improvement being 0.85. The paired OR for improvement was highest for weight (14.5; 95% CI 5 to 27), modest for BMI (1.57; 95% CI 0.56 to 6.34) and least for height (0.25; 95% CI 0.04 to 0.87). The proportion of malnourished children decreased from 61% to 27% after surgery. Subgroup analysis of the children with initial malnutrition showed significant improvement in weight for age Z scores (p=0.002) compared with non-malnourished children (paired OR 17.54; 95% CI 6.13 to 32.26), those with worse malnutrition faring better. Children with residual malnutrition tended to have extreme economic backwardness, surgery for cyanotic congenital heart disease or associated syndromes. Conclusion Congenital heart surgery resulted in a salutary improvement in the growth of children from economically underprivileged backgrounds. Residual malnutrition was likely to be associated with extreme economic backwardness, surgery for cyanotic congenital heart disease or coincidental syndromes.

  2. 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

  3. 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

  4. 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. PMID:26785492

  5. Congenital Heart Disease: How to Care for Your Baby and Yourself

    MedlinePlus

    MENU Return to Web version Congenital Heart Disease | How to Care for Your Baby and Yourself I was depressed when I found out my baby has a heart problem. ... a sick baby. Source Caring for Infants with Congenital Heart Disease and Their Families by RB Saenz, M.D., ...

  6. Robotics and imaging in congenital heart surgery

    PubMed Central

    Vasilyev, Nikolay V; Dupont, Pierre E; del Nido, Pedro J

    2012-01-01

    The initial success seen in adult cardiac surgery with the application of available robotic systems has not been realized as broadly in pediatric cardiac surgery. The main obstacles include extended set-up time and complexity of the procedures, as well as the large size of the instruments with respect to the size of the child. Moreover, while the main advantage of robotic systems is the ability to minimize incision size, for intracardiac repairs, cardiopulmonary bypass is still required. Catheter-based interventions, on the other hand, have expanded rapidly in both application as well as the complexity of procedures and lesions being treated. However, despite the development of sophisticated devices, robotic systems to aid catheter procedures have not been commonly applied in children. In this article, we describe new catheter-like robotic delivery platforms, which facilitate safe navigation and enable complex repairs, such as tissue approximation and fixation, and tissue removal, inside the beating heart. Additional features including the tracking of rapidly moving tissue targets and novel imaging approaches are described, along with a discussion of future prospects for steerable robotic systems. PMID:22413986

  7. [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

  8. Families of children with congenital heart disease: A literature review.

    PubMed

    Wei, Holly; Roscigno, Cecelia I; Hanson, Cherissa C; Swanson, Kristen M

    2015-01-01

    In 2000 and 2002, the National Heart, Lung, and Blood Institute launched two initiatives to encourage treatment innovations and research on children with heart disease and their families. Since then, no systematic reviews have examined the evidence regarding the impacts of having a child with congenital heart disease (CHD) on families. This review synthesized key findings regarding families of children with CHD, critiqued research methods, described what has been done, and provided recommendations for future inquiry. Databases searched included PubMed, CINAHL, Family & Society Studies Worldwide, Women's Studies International, and PsycINFO. The literature search followed the PRISMA guidelines. As a result, ninety-four articles were reviewed. Four major themes were derived: parents' psychological health, family life, parenting challenges, and family-focused interventions. In conclusion, while they found parents having psychological symptoms, researchers did not explore parents' appraisals of what led to their symptoms. Research is needed to explore parents' experiences and expectations. PMID:26404115

  9. 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

  10. Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists.

    PubMed

    Kloesel, Benjamin; DiNardo, James A; Body, Simon C

    2016-09-01

    Congenital heart disease is diagnosed in 0.4% to 5% of live births and presents unique challenges to the pediatric anesthesiologist. Furthermore, advances in surgical management have led to improved survival of those patients, and many adult anesthesiologists now frequently take care of adolescents and adults who have previously undergone surgery to correct or palliate congenital heart lesions. Knowledge of abnormal heart development on the molecular and genetic level extends and improves the anesthesiologist's understanding of congenital heart disease. In this article, we aim to review current knowledge pertaining to genetic alterations and their cellular effects that are involved in the formation of congenital heart defects. Given that congenital heart disease can currently only occasionally be traced to a single genetic mutation, we highlight some of the difficulties that researchers face when trying to identify specific steps in the pathogenetic development of heart lesions. PMID:27541719

  11. The Critically Ill Infant with Congenital Heart Disease.

    PubMed

    Strobel, Ashley M; Lu, Le N

    2015-08-01

    This article presents an approach for identification of infants with congenital heart disorders. These disorders are difficult to diagnose because of the complexity and variety of cardiac malformations; additionally presentation can be complicated by age-dependent physiology. By compiling data from the history and the physical examination, the emergency physician can identify lesion category and initiate stabilization procedures. Critical congenital cardiac lesions can be classified as left-sided obstructive ductal dependent, right-sided obstructive ductal dependent, and shunting or mixing. The simplified approach categorizes infants with these lesions respectively as "pink," "blue," or "gray." The emergency provider can provide life-saving stabilization until specialized care can be obtained. PMID:26226862

  12. 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

  13. 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

  14. Congenital Heart Disease In Pediatric Patients: Recognizing The Undiagnosed And Managing Complications In The Emergency Department.

    PubMed

    Judge, Pavan; Meckler Mshs, Garth

    2016-05-01

    Congenital heart disease is the most common form of all congenital malformations and, despite advances in prenatal and newborn screening, it may present undiagnosed to the emergency department. Signs and symptoms of congenital heart disease are variable and often nonspecific, making recognition and treatment challenging. Patient presentations can range from life-threatening shock or cyanosis in a neonate to respiratory distress or failure to thrive in infants. Advances in surgical techniques have improved short- and long-term survival of infants and children with congenital heart disease, but these children are at risk for a variety of complications related to the underlying or surgical anatomy and physiology. This review focuses on the recognition and initial management of patients with undiagnosed congenital heart disease presenting to the ED and touches on considerations for postoperative infants and children with complex congenital heart disease. PMID:27096879

  15. 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.

  16. Ventricular Tachycardia Following Surgical Repair of Complex Congenital Heart Disease.

    PubMed

    Baysa, Sherrie Joy; Kanter, Ronald J

    2016-03-01

    A nine year old boy with complex congenital heart disease requiring right ventricular outflow tract surgery and palpitations had inducible monomorphic ventricular tachycardia at 300 bpm by programmed ventricular stimulation. He was treated with enteral phenytoin. With a therapeutic plasma level, repeat electrophysiological study was negative for inducible ventricular tachycardia using an aggressive pacing protocol. An insertable loop recorder was implanted, and the family was prescribed an automatic external defibrillator. The decision to not place an implantable cardioverter-defibrillator was based upon anticipated need for serial cardiac MRI scans to monitor the effect of progressive outflow tract stenosis and regurgitation. PMID:26920195

  17. The Management of Athletes with Congenital Heart Disease.

    PubMed

    Molossi, Silvana; Grenier, Michelle

    2015-07-01

    Although rare, sudden cardiac death (SCD) is devastating to families and communities. Screening of athletes prior to sports participation by trained professionals is useful in identifying individuals who carry known risk factors for SCD. Inclusive in this population are those athletes with congenital heart disease. Sports medicine specialists should be able to identify those at risk for adverse events surrounding vigorous activity and direct appropriate evaluation by the specialist (ie, cardiologist) as deemed appropriate. Equally importantly, they should be able to coach individuals in order to improve performance and quality of life with exercise in a safe environment. PMID:26100428

  18. 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. PMID:27045129

  19. Congenital heart malformations induced by hemodynamic altering surgical interventions

    PubMed Central

    Midgett, Madeline; Rugonyi, Sandra

    2014-01-01

    Embryonic heart formation results from a dynamic interplay between genetic and environmental factors. Blood flow during early embryonic stages plays a critical role in heart development, as interactions between flow and cardiac tissues generate biomechanical forces that modulate cardiac growth and remodeling. Normal hemodynamic conditions are essential for proper cardiac development, while altered blood flow induced by surgical manipulations in animal models result in heart defects similar to those seen in humans with congenital heart disease. This review compares the altered hemodynamics, changes in tissue properties, and cardiac defects reported after common surgical interventions that alter hemodynamics in the early chick embryo, and shows that interventions produce a wide spectrum of cardiac defects. Vitelline vein ligation and left atrial ligation decrease blood pressure and flow; and outflow tract banding increases blood pressure and flow velocities. These three surgical interventions result in many of the same cardiac defects, which indicate that the altered hemodynamics interfere with common looping, septation and valve formation processes that occur after intervention and that shape the four-chambered heart. While many similar defects develop after the interventions, the varying degrees of hemodynamic load alteration among the three interventions also result in varying incidence and severity of cardiac defects, indicating that the hemodynamic modulation of cardiac developmental processes is strongly dependent on hemodynamic load. PMID:25136319

  20. Preconception Counseling for Women with Congenital Heart Disease

    PubMed Central

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

    2015-01-01

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

  1. Current diagnosis and treatments for critical congenital heart defects

    PubMed Central

    ZENG, ZHANDONG; ZHANG, HONGWEI; LIU, FENGLI; ZHANG, NING

    2016-01-01

    Congenital heart defects (CHD) affect approximately 7% of infants, and account for 3% of all infant deaths. CHD is most often caused by the defects associated with ductus arteriosus, which is a vessel that usually closes shortly after birth. The types of CHD include tetralogy of fallot, hypoplastic left heart syndrome, pulmonary atresia, total anomalous pulmonary venous return, transposition of great arteries, tricuspid atresia and truncus arteriosus. There are some risk factors that can increase the chance of a fetus developing CHD such as prematurity, an existing CHD in a first-degree relative, genetic syndromes, infections in utero, maternal drug consumptions and disorders. CHD is diagnosed is through different techniques including pulse oximetry, echocardiograms and physical exams. In this review, we examined the current incidence of CHD, the risk factors associated with CHD, the current methods of diagnosis and surgical options used to repair the defects. PMID:27168772

  2. Adult congenital heart disease: A paradigm of epidemiological change.

    PubMed

    Ntiloudi, Despοina; Giannakoulas, George; Parcharidou, Despοina; Panagiotidis, Theofilos; Gatzoulis, Michael A; Karvounis, Haralambos

    2016-09-01

    Increasing survival rates for patients with congenital heart disease (CHD) represent a major achievement of modern medicine. Despite incredible progress been made in diagnosis, follow-up, early treatment and management in adulthood, many patients are faced with long-term complications, such as arrhythmia, thromboembolism, heart failure, pulmonary hypertension, endocarditis and/or the need for reoperation. In parallel, half of the patients are female, most of childbearing age, and, thus warrant specialist reproductive counseling and appropriate obstetric care. It is not surprising therefore, that healthcare utilization has steadily increased for CHD in recent years. Furthermore, cardiology and other medical disciplines are now faced with new challenges, namely the provision of expert care and optimal, lifelong medical surveillance for these patients. PMID:27240150

  3. 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. PMID:24452958

  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. Maximizing the Effectiveness of Ablation for Arrhythmias in the Congenital Heart Patients.

    PubMed

    Arujuna, Aruna; de Bono, Joseph

    2016-07-01

    Arrhythmias are common in adults with congenital heart disease and account for a large proportion of hospitalizations. The complex anatomical heterogeneity, often in the presence of a delicate hemodynamic system, presents a significant electrophysiological challenge. This review outlines current clinical practice and advances in maximizing the effectiveness of ablation for arrhythmias in congenital heart patients. PMID:27289368

  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.

  9. 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.

  10. 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

  11. Bilateral diaphragmatic palsy after congenital heart surgery: management options.

    PubMed

    Bhaskar, Pradeep; Lone, Reyaz A; Sallehuddin, Ahmad; John, Jiju; Bhat, Akhlaque N; Rahmath, Muhammed R K

    2016-06-01

    Diaphragmatic paralysis following phrenic nerve injury is a major complication following congenital cardiac surgery. In contrast to unilateral paralysis, patients with bilateral diaphragmatic paralysis present a higher risk group, require different management methods, and have poorer prognosis. We retrospectively analysed seven patients who had bilateral diaphragmatic paralysis following congenital heart surgery during the period from July, 2006 to July, 2014. Considerations were given to the time to diagnosis of diaphragm paralysis, total ventilator days, interval after plication, and lengths of ICU and hospital stays. The incidence of bilateral diaphragmatic paralysis was 0.68% with a median age of 2 months (0.6-12 months). There was one neonate and six infants with a median weight of 4 kg (3-7 kg); five patients underwent unilateral plication of the paradoxical diaphragm following recovery of the other side, whereas the remaining two patients who did not demonstrate a paradoxical movement were successfully weaned from the ventilator following recovery of function in one of the diaphragms. The median ventilation time for the whole group was 48 days (20-90 days). The median length of ICU stay was 46 days (24-110 days), and the median length of hospital stay was 50 days (30-116 days). None of the patients required tracheostomy for respiratory support and there were no mortalities, although all the patients except one developed ventilator-associated pneumonia. The outcome of different management options for bilateral diaphragmatic paralysis following surgery for CHD is discussed. PMID:26345716

  12. Genetics of congenital heart disease: the glass half empty.

    PubMed

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

    2013-02-15

    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. Although yielding few, usually highly penetrant, disease gene mutations, these discoveries provided 3 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 single nucleotide polymorphism arrays, next-generation sequencing, and copy number variant 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

  13. Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

    PubMed Central

    Vecoli, Cecilia; Pulignani, Silvia; Foffa, Ilenia; Andreassi, Maria Grazia

    2014-01-01

    Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy. PMID:25435801

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

    PubMed

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

    2016-04-01

    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 (123)I-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

  15. 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

  16. Of mice and men: molecular genetics of congenital heart disease.

    PubMed

    Andersen, Troels Askhøj; Troelsen, Karin de Linde Lind; Larsen, Lars Allan

    2014-04-01

    Congenital heart disease (CHD) affects nearly 1 % of the population. It is a complex disease, which may be caused by multiple genetic and environmental factors. Studies in human genetics have led to the identification of more than 50 human genes, involved in isolated CHD or genetic syndromes, where CHD is part of the phenotype. Furthermore, mapping of genomic copy number variants and exome sequencing of CHD patients have led to the identification of a large number of candidate disease genes. Experiments in animal models, particularly in mice, have been used to verify human disease genes and to gain further insight into the molecular pathology behind CHD. The picture emerging from these studies suggest that genetic lesions associated with CHD affect a broad range of cellular signaling components, from ligands and receptors, across down-stream effector molecules to transcription factors and co-factors, including chromatin modifiers. PMID:23934094

  17. Non-congenital heart disease associated pediatric pulmonary arterial hypertension.

    PubMed

    Ivy, D D; Feinstein, J A; Humpl, T; Rosenzweig, E B

    2009-12-01

    Recognition of causes of pulmonary hypertension other than congenital heart disease is increasing in children. Diagnosis and treatment of any underlying cause of pulmonary hypertension is crucial for optimal management of pulmonary hypertension. This article discusses the available knowledge regarding several disorders associated with pulmonary hypertension in children: idiopathic pulmonary arterial hypertension (IPAH), pulmonary capillary hemangiomatosis, pulmonary veno-occlusive disease, hemoglobinopathies, hepatopulmonary syndrome, portopulmonary hypertension and HIV. Three classes of drugs have been extensively studied for the treatment of IPAH in adults: prostanoids (epoprostenol, treprostinil, iloprost, beraprost), endothelin receptor antagonists (bosentan, sitaxsentan, ambrisentan), and phosphodiesterase inhibitors (Sildenafil, tadalafil). These medications have been used in treatment of children with pulmonary arterial hypertension, although randomized clinical trial data is lacking. As pulmonary vasodilator therapy in certain diseases may be associated with adverse outcomes, further study of these medications is needed before widespread use is encouraged. PMID:21852894

  18. 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

  19. Pulmonary vascular resistance in children with congenital heart disease.

    PubMed Central

    Davies, N J; Shinebourne, E A; Scallan, M J; Sopwith, T A; Denison, D M

    1984-01-01

    Pulmonary and systemic blood flow and pulmonary vascular resistance were measured in 21 children with congenital heart disease. Blood flow was calculated by the direct Fick method, using measurements of metabolic gas exchange obtained by remote respiratory mass spectrometry. The observations showed that the administration of oxygen caused an appreciable fall in pulmonary vascular resistance in 16 of the 21 children studied and that this fall would not have been appreciated from a study of pulmonary arterial pressure alone as it was masked by a corresponding rise in blood flow. In 10 of 14 children, in whom superior vena caval blood was also sampled, the rise in flow was largely due to an increase in intracardiac left to right shunt. It was accompanied by widening of the alveolar-arterial oxygen gradient, perhaps due to imperfect gas equilibration within the lung. PMID:6515594

  20. Non-congenital heart disease associated pediatric pulmonary arterial hypertension

    PubMed Central

    Ivy, D. D.; Feinstein, J. A.; Humpl, T.; Rosenzweig, E. B.

    2011-01-01

    Recognition of causes of pulmonary hypertension other than congenital heart disease is increasing in children. Diagnosis and treatment of any underlying cause of pulmonary hypertension is crucial for optimal management of pulmonary hypertension. This article discusses the available knowledge regarding several disorders associated with pulmonary hypertension in children: idiopathic pulmonary arterial hypertension (IPAH), pulmonary capillary hemangiomatosis, pulmonary veno-occlusive disease, hemoglobinopathies, hepatopulmonary syndrome, portopulmonary hypertension and HIV. Three classes of drugs have been extensively studied for the treatment of IPAH in adults: prostanoids (epoprostenol, treprostinil, iloprost, beraprost), endothelin receptor antagonists (bosentan, sitaxsentan, ambrisentan), and phosphodiesterase inhibitors (Sildenafil, tadalafil). These medications have been used in treatment of children with pulmonary arterial hypertension, although randomized clinical trial data is lacking. As pulmonary vasodilator therapy in certain diseases may be associated with adverse outcomes, further study of these medications is needed before widespread use is encouraged. PMID:21852894

  1. 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

  2. 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

  3. Heart Transplantation in Congenital Heart Disease: In Whom to Consider and When?

    PubMed Central

    Attenhofer Jost, Christine H.; Schmidt, Dörthe; Huebler, Michael; Balmer, Christian; Noll, Georg; Caduff, Rosmarie; Greutmann, Matthias

    2013-01-01

    Due to impressive improvements in surgical repair options, even patients with complex congenital heart disease (CHD) may survive into adulthood and have a high risk of end-stage heart failure. Thus, the number of patients with CHD needing heart transplantation (HTx) has been increasing in the last decades. This paper summarizes the changing etiology of causes of death in heart failure in CHD. The main reasons, contraindications, and risks of heart transplantation in CHD are discussed and underlined with three case vignettes. Compared to HTx in acquired heart disease, HTx in CHD has an increased risk of perioperative death and rejection. However, outcome of HTx for complex CHD has improved over the past 20 years. Additionally, mechanical support options might decrease the waiting list mortality in the future. The number of patients needing heart-lung transplantation (especially for Eisenmenger's syndrome) has decreased in the last years. Lung transplantation with intracardiac repair of a cardiac defect is another possibility especially for patients with interatrial shunts. Overall, HTx will remain an important treatment option for CHD in the near future. PMID:23577237

  4. 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

  5. Headache in a Patient with Complex Congenital Heart Disease: Diagnostic and Therapeutic Considerations.

    PubMed

    Ahmad, Waheed; Miteff, Ferdi; Collins, Nicholas

    2015-11-01

    Headache in adult patients with congenital heart disease may be a manifestation of the underlying cardiac condition or more common alternative causes of headache. In patients with pre-existing congenital heart disease, consideration of potentially uncommon aetiologies of headache is important. We report an uncommon case of headache in a patient with complex congenital heart disease characterised by Ebstein's anomaly with previous surgical repair complicated by idiopathic intracranial hypertension. This case illustrates the importance of understanding the implications of headache with reference to the underlying cardiac disease as well as specific issues related to a relatively young cohort of patients. PMID:26251315

  6. Practical stepwise approach to rhythm disturbances in congenital heart diseases.

    PubMed

    Huh, June

    2010-06-01

    Patients with congenital heart diseases (CHD) are confronted with early- and late-onset complications, such as conduction disorders, arrhythmias, myocardial dysfunction, altered coronary flow, and ischemia, throughout their lifetime despite successful hemodynamic and/or anatomical correction. Rhythm disturbance is a well-known and increasingly frequent cause of morbidity and mortality in patients with CHD. Predisposing factors to rhythm disturbances include underlying cardiac defects, hemodynamic changes as part of the natural history, surgical repair and related scarring, and residual hemodynamic abnormalities. Acquired factors such as aging, hypertension, diabetes, obesity, and others may also contribute to arrhythmogenesis in CHD. The first step in evaluating arrhythmias in CHD is to understand the complex anatomy and to find predisposing factors and hemodynamic abnormalities. A practical stepwise approach can lead to diagnosis and prompt appropriate interventions. Electrophysiological assessment and management should be done with integrated care of the underlying heart defects and hemodynamic abnormalities. Catheter ablation and arrhythmia surgery have been increasingly applied, showing increasing success rates with technological advancement despite complicated arrhythmia circuits in complex anatomy and the difficulty of access. Correction of residual hemodynamic abnormalities may be critical in the treatment of arrhythmia in patients with CHD. PMID:21189938

  7. Practical stepwise approach to rhythm disturbances in congenital heart diseases

    PubMed Central

    2010-01-01

    Patients with congenital heart diseases (CHD) are confronted with early- and late-onset complications, such as conduction disorders, arrhythmias, myocardial dysfunction, altered coronary flow, and ischemia, throughout their lifetime despite successful hemodynamic and/or anatomical correction. Rhythm disturbance is a well-known and increasingly frequent cause of morbidity and mortality in patients with CHD. Predisposing factors to rhythm disturbances include underlying cardiac defects, hemodynamic changes as part of the natural history, surgical repair and related scarring, and residual hemodynamic abnormalities. Acquired factors such as aging, hypertension, diabetes, obesity, and others may also contribute to arrhythmogenesis in CHD. The first step in evaluating arrhythmias in CHD is to understand the complex anatomy and to find predisposing factors and hemodynamic abnormalities. A practical stepwise approach can lead to diagnosis and prompt appropriate interventions. Electrophysiological assessment and management should be done with integrated care of the underlying heart defects and hemodynamic abnormalities. Catheter ablation and arrhythmia surgery have been increasingly applied, showing increasing success rates with technological advancement despite complicated arrhythmia circuits in complex anatomy and the difficulty of access. Correction of residual hemodynamic abnormalities may be critical in the treatment of arrhythmia in patients with CHD. PMID:21189938

  8. 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

  9. Recent Advances in Surgery of Congenital Heart Disease

    PubMed Central

    Gerbode, Frank; Sharma, Giridhari

    1970-01-01

    In the cyanotic group palliative procedures for transposition of the great arteries are frequently life-saving in infancy, and the definitive operations such as the atrial baffle, and the Rastelli procedure for those with ventricular septal defect and pulmonic stenosis, are now firmly established. In tetralogy of Fallot shunting procedures continue to be employed in infancy and early childhood, and the complete repair is usually done after the age of five. Corrective operations for total anomalous venous return may have to be staged, and the results are more satisfactory in older children. The various forms of endocardial cushion defects can usually be recognized accurately preoperatively, and where the normal anatomical relationships can be restored, excellent results obtained. Brilliant operative success can now be had in some forms of truncus arteriosus and double outlet right ventricle. It is quite common to find congenital heart disease in adults, frequently after many years of having been treated as rheumatic heart disease. The operative risk in this group is less than 10 percent, and in most instances such patients are restored to their normal physiological age after operation. PMID:4926370

  10. The impact of environmental factors on the occurrence of congenital heart disease in the form of hypoplastic left heart syndrome

    PubMed Central

    Składzień, Tomasz; Skalski, Janusz Hieronim

    2015-01-01

    Introduction Congenital heart defects are the most common abnormalities in neonatal age. Congenital heart defects occur with a frequency of 3-12/1000 births. A special group is constituted by children with hypoplastic left heart syndrome because their treatment is extremely complex, requiring three-stage surgery and the involvement of various specialists. Material and methods We analysed 100 infants with congenital heart defects in the form of hypoplastic left heart syndrome (HLHS). They were compared with a control group of 100 newborns without structural heart defects. The children's parents were asked to fill out a questionnaire consisting of 10 simple questions. It had been constructed in consultation with a psychologist in order not to offend the feelings of the parents affected by the illness of their offspring. Results Congenital heart defects were present in the family medical histories of 16 HLHS children and 11 healthy children (p = 0.4). Genetic disorders were present in the family medical histories of 13 HLHS children and 15 healthy children (p = 0.73). In the HLHS group, the mothers smoked cigarettes or were exposed to tobacco smoke in 32% of cases; in the control group, this proportion amounted to 23% (p = 0.76). Conclusions The study found no relationship between the occurrence of hypoplastic left heart syndrome in children and the parents’ age, the presence of genetic disorders, or heart defects in the family medical histories. PMID:26702275

  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. State-of-the-Art CT Imaging Techniques for Congenital Heart Disease

    PubMed Central

    2010-01-01

    CT is increasingly being used for evaluating the cardiovascular structures and airways in the patients with congenital heart disease. Multi-slice CT has traditionally been used for the evaluation of the extracardiac vascular and airway abnormalities because of its inherent high spatial resolution and excellent air-tissue contrast. Recent developments in CT technology primarily by reducing the cardiac motion and the radiation dose usage in congenital heart disease evaluation have helped expand the indications for CT usage. Tracheobronchomalacia associated with congenital heart disease can be evaluated with cine CT. Intravenous contrast injection should be tailored to unequivocally demonstrate cardiovascular abnormalities. Knowledge of the state-of-the-art CT imaging techniques that are used for evaluating congenital heart disease is helpful not only for planning and performing CT examinations, but also for interpreting and presenting the CT image findings that consequently guide the proper medical and surgical management. PMID:20046490

  13. Sonocubic fine: new three-dimensional ultrasound software to the screening of congenital heart diseases.

    PubMed

    Araujo Júnior, Edward; Rocha, Luciane Alves da; Nardozza, Luciano Marcondes Machado

    2014-01-01

    Congenital heart disease is the most common fetal congenital malformations; however, the prenatal rate detection still is low. The two-dimensional echocardiography is the "gold standard" exam to screening and diagnosis of congenital heart disease during the prenatal; however, this exam is operator-depending and it is realized only in high risk pregnancies. Spatio-temporal image correlation is a three-dimensional ultrasound software that analyses the fetal heart and your connections in the multiplanar and rendering modes; however, spatio-temporal image correlation too is operator-depending and time-consuming. We presenting a new three-dimensional software named Sonocubic fine to the screening of congenital heart disease. This software applies intelligent navigation technology to spatio-temporal image correlation volume datasets to automatically generate nine fetal echocardiography standard views. Thus, this new software tends to be less operator-depending and time-consuming. PMID:25372918

  14. Assessment of operability of patients with pulmonary arterial hypertension associated with congenital heart disease.

    PubMed

    Myers, Patrick O; Tissot, Cécile; Beghetti, Maurice

    2014-01-01

    Pulmonary arterial hypertension (PAH) is a common complication of congenital heart disease, and is now predominantly among patients with uncorrected left-to-right shunts. A growing population is characterized by persistent or recurrent PAH after surgical or interventional correction of left-to-right shunts; the latter having a worse prognosis than other forms of PAH associated with congenital heart disease. New treatments for PAH have been shown to be effective in improving PAH exercise capacity and hemodynamics, raising the hope for making previously inoperable congenital heart defects operable and shifting the framework for the assessment of operability. This review focuses on current methods for assessing operability in PAH associated with congenital heart disease, and the possibility of "treat-and-repair" vs. "repair-and-treat" strategies for patients with inoperable or borderline PAH. PMID:24225339

  15. 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

  16. Congenital heart block: successful prophylactic treatment with intravenous gamma globulin and corticosteroid therapy.

    PubMed

    Kaaja, R; Julkunen, H; Ammälä, P; Teppo, A M; Kurki, P

    1991-11-01

    In mothers with anti-Ro-positive antibodies whose previous pregnancies have ended in deliveries of infants with congenital heart block, prophylactic therapeutic strategies are used to try to diminish the production and passage into fetal circulation of autoantibodies. Intravenous gamma globulin was given at 14 and 18 weeks' gestation and prednisone was given from 14 weeks' gestation to a woman with Sjögren's syndrome. The pregnancy ended with delivery of an infant without congenital heart block. PMID:1720280

  17. Guidelines and protocols for cardiovascular magnetic resonance in children and adults with congenital heart disease: SCMR expert consensus group on congenital heart disease

    PubMed Central

    2013-01-01

    Cardiovascular magnetic resonance (CMR) has taken on an increasingly important role in the diagnostic evaluation and pre-procedural planning for patients with congenital heart disease. This article provides guidelines for the performance of CMR in children and adults with congenital heart disease. The first portion addresses preparation for the examination and safety issues, the second describes the primary techniques used in an examination, and the third provides disease-specific protocols. Variations in practice are highlighted and expert consensus recommendations are provided. Indications and appropriate use criteria for CMR examination are not specifically addressed. PMID:23763839

  18. 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

  19. 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

  20. Matrix metalloproteinases as candidate biomarkers in adults with congenital heart disease.

    PubMed

    Baggen, Vivan J M; Eindhoven, Jannet A; van den Bosch, Annemien E; Witsenburg, Maarten; Cuypers, Judith A A E; Langstraat, Jannette S; Boersma, Eric; Roos-Hesselink, Jolien W

    2016-07-01

    Context Matrix metalloproteinases (MMPs) are associated with diastolic dysfunction and heart failure in acquired heart disease. Objective To investigate the role of MMPs as novel biomarkers in clinically stable adults with congenital heart disease. Methods We measured serum MMP-2, -3, -9 and tissue inhibitor of matrix metalloproteinase-1 in 425 patients and analysed the association with cardiac function and exercise capacity. Results MMP-2 was significantly associated with exercise capacity, ventilatory efficiency and left ventricular deceleration time, independently of age, sex, body surface area and NT-proBNP. Conclusion MMP-2 may provide new information in the clinical evaluation of adults with congenital heart disease. PMID:26983903

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

    PubMed

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

    2016-04-01

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

  2. Pregnant women with congenital heart disease: cardiac, anesthetic and obstetrical implications.

    PubMed

    Fernandes, Susan M; Arendt, Katherine W; Landzberg, Michael J; Economy, Katherine E; Khairy, Paul

    2010-03-01

    Remarkable advances in surgical and clinical management have resulted in survival to adulthood in the large majority of patients with congenital heart malformations, even with the most complex disease. Over 1 million adults with congenital heart disease currently live in the USA, approximately half of whom are women of childbearing age. Collectively, congenital malformations are the most common form of heart disease in pregnant women. Indeed, in North America, congenital defects are now the leading cause of maternal morbidity and mortality from heart disease. This article begins with a summary of cardiovascular changes during pregnancy and highlights key features in pre-pregnancy counseling, maternal cardiac and obstetric risk, and neonatal complications. Management issues regarding pregnancy and delivery are elaborated, including anesthesia considerations. While it is beyond the scope of this article to discuss particulars related to all forms of congenital heart disease, selected subtypes are detailed at greater length. In the absence of clinical trial evidence to inform the care of pregnant women with congenital heart disease, this article is inspired by the premise that knowledgeable multidisciplinary assessment and management provides the best opportunity to substantially improve outcomes for mother and baby. PMID:20222821

  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. 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

  5. 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

  6. Lessons Learned From Newborn Screening for Critical Congenital Heart Defects.

    PubMed

    Oster, Matthew E; Aucott, Susan W; Glidewell, Jill; Hackell, Jesse; Kochilas, Lazaros; Martin, Gerard R; Phillippi, Julia; Pinto, Nelangi M; Saarinen, Annamarie; Sontag, Marci; Kemper, Alex R

    2016-05-01

    Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of the recommended screening protocol and barriers to follow-up for infants with a positive screen. In response, the Centers for Disease Control and Prevention partnered with the American Academy of Pediatrics to convene an expert panel between January and September 2015 representing a broad array of primary care, neonatology, pediatric cardiology, nursing, midwifery, public health, and advocacy communities. The panel's goal was to review current practices in newborn screening for CCHD and to identify opportunities for improvement. In this article, we describe the experience of CCHD screening in the United States with regard to: (1) identifying the target lesions for CCHD screening; (2) optimizing the algorithm for screening; (3) determining state-level challenges to implementation and surveillance of CCHD; (4) educating all stakeholders; (5) performing screening using the proper equipment and in a cost-effective manner; and (6) implementing screening in special settings such as the NICU, out-of-hospital settings, and areas of high altitude. PMID:27244826

  7. Interventional catheterization in surgically treated patients with congenital heart disease.

    PubMed

    Friedli, B; Oberhänsli, I; Faidutti, B

    2000-12-01

    Interventional catheterization is an alternative to surgery for some congenital heart defects. For other malformations, the surgeon and the interventionist will join in an effort to obtain an optimal result: the typical example is pulmonary atresia with VSD and aortopulmonary collaterals. In other cases, the cardiologist may be called upon to intervene with catheter techniques to correct sequelae or residual lesions after surgical correction, avoiding redo surgery. Most often, the task consists of opening stenoses by balloon dilatation and/or stenting the main targets being pulmonary artery branch stenoses, venous obstructions after Mustard procedure, and recoarctations. Whereas simple balloon dilatation of recoarctation often brings good results, stents are often needed to obtain optimal results in pulmonary branch stenoses. Stenting of pulmonary veins has been disappointing. Closing unwanted vessels and defects is another task for the interventional cardiologist after cardiac surgery. Here, the most frequent procedure is closing aortopulmonary collaterals in pulmonary atresia and VSD after corrective surgery. Advantages and limitations of these procedures are discussed. PMID:11145397

  8. 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

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

    PubMed

    Tomita-Mitchell, Aoy; 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

    2012-05-01

    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

  10. Academic proficiency in children after early congenital heart disease surgery.

    PubMed

    Mulkey, Sarah B; Swearingen, Christopher J; Melguizo, Maria S; Reeves, Rachel N; Rowell, Jacob A; Gibson, Neal; Holland, Greg; Bhutta, Adnan T; Kaiser, Jeffrey R

    2014-02-01

    Children with early surgery for congenital heart disease (CHD) are known to have impaired neurodevelopment; their performance on school-age achievement tests and their need for special education remains largely unexplored. The study aimed to determine predictors of academic achievement at school age and placement in special education services among early CHD surgery survivors. Children with CHD surgery at <1 year of age from January 1, 1998 to December 31, 2003, at the Arkansas Children's Hospital were identified. Out-of-state births and infants with known genetic and/or neurologic conditions were excluded. Infants were matched to an Arkansas Department of Education database containing standardized assessments at early school age and special-education codes. Predictors for achieving proficiency in literacy and mathematics and the receipt of special education were determined. Two hundred fifty-six children who attended Arkansas public schools and who had surgery as infants were included; 77.7 % had either school-age achievement-test scores or special-education codes of mental retardation or multiple disabilities. Scores on achievement tests for these children were 7-13 % lower than those of Arkansas students (p < 0.01). They had an eightfold increase in receipt of special education due to multiple disabilities [odds ratio (OR) 10.66, 95 % confidence interval (CI) 4.23-22.35] or mental retardation (OR 4.96, 95 % CI 2.6-8.64). Surgery after the neonatal period was associated with decreased literacy proficiency, and cardiopulmonary bypass during the first surgery was associated with decreased mathematics proficiency. Children who had early CHD surgery were less proficient on standardized school assessments, and many received special education. This is concerning because achievement-test scores at school age are "real-world" predictors of long-term outcomes. PMID:24000004

  11. 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

  12. 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

  13. 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

  14. Pulmonary arterial hypertension associated with congenital heart disease. Personal perspectives.

    PubMed

    Nakanishi, Toshio

    2015-01-01

    The management of patients with congenital heart disease (CHD) and pulmonary arterial hypertension (PAH) has changed dramatically with the development of targeted therapy with selective pulmonary vasodilators. The number of adult Japanese patients with PAH associated with CHD is increasing. It is important to develop evidence-based guidelines for the management of these patients, and to achieve this, a register of adult Japanese patients with PAH associated with CHD should be established. At the World Symposium in Nice, France, in 2013, the consensus was reached that patients with a pulmonary resistance of < 4 Wood Units (WU)·m(2) have operable disease, and patients with a pulmonary resistance of > 8 WU·m(2) have inoperable disease. However, these criteria are conservative. Some patients with a pulmonary resistance of > 8 WU·m(2) and a good response to a pulmonary vasodilator test have operable disease and a favorable clinical course long after repair of CHD. The criteria determining operability in patients with PAH associated with CHD in the era of pulmonary vasodilators should be established using data obtained from patient registers and/or multicenter studies. The optimal management of Eisenmenger syndrome should also be established using data obtained from patient registers. Prospective studies should be conducted to determine the life expectancy of patients with Eisenmenger syndrome in the era of targeted therapy. A relatively mild increase in pulmonary resistance may result in failure of a Fontan circulation. The effects of pulmonary vasodilators on the long-term prognosis of patients who have undergone the Fontan operation are still unclear. PMID:25787791

  15. 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.

  16. Epidemiology of major congenital heart defects in Sweden, 1981-1986.

    PubMed Central

    Pradat, P

    1992-01-01

    STUDY OBJECTIVE--The aim was to make an epidemiological study of major congenital heart defects and to make comparisons between groups of heart defects regarding different epidemiological variables. DESIGN--The cases with congenital heart defects were identified from two Swedish registries: the Registry of Congenital Malformations and the Child Cardiology Registry. A classification with nine groups of heart defects is proposed. SETTING--This was a national survey in Sweden during the period 1981-1986. The total number of cases reported during the six years was 1605. Cases that presented a patent ductus arteriosus only and a birthweight below 2500 g were excluded. MEASUREMENTS AND MAIN RESULTS--The prevalence at birth was 2.8 per 1000. When cases with a chromosomal anomaly were excluded, no maternal age effect was observed except a possible under-risk for women above 40 years. The risk for a heart defect seems to increase with increasing parity independent of age. A higher risk was also observed among twin infants compared with singletons although no specificity in cardiac malformation type appeared. Sex ratio, the tendency for having an associated extracardiac malformation, and the proportion of isolated v non-isolated cardiac defects differed between the different groups of heart malformations. CONCLUSIONS--The differences observed between groups of defects indicate different aetiologies and show that this classification may be suitable for further analyses of congenital heart defects. PMID:1645073

  17. Report of the National Heart, Lung, and Blood Institute Working Group on research in adult congenital heart disease.

    PubMed

    Williams, Roberta G; Pearson, Gail D; Barst, Robyn J; Child, John S; del Nido, Pedro; Gersony, Welton M; Kuehl, Karen S; Landzberg, Michael J; Myerson, Merle; Neish, Steven R; Sahn, David J; Verstappen, Amy; Warnes, Carole A; Webb, Catherine L

    2006-02-21

    The Working Group on research in adult congenital heart disease (ACHD) was convened in September 2004 under the sponsorship of National Heart, Lung, and Blood Institute (NHLBI) and the Office of Rare Diseases, National Institutes of Health, Department of Health and Human Services, to make recommendations on research needs. The purpose of the Working Group was to advise the NHLBI on the current state of the science in ACHD and barriers to optimal clinical care, and to make specific recommendations for overcoming those barriers. The members of the Working Group were chosen to provide expert input on a broad range of research issues from both scientific and lay perspectives. The Working Group reviewed data on the epidemiology of ACHD, long-term outcomes of complex cardiovascular malformations, issues in assessing morphology and function with current imaging techniques, surgical and catheter-based interventions, management of related conditions including pregnancy and arrhythmias, quality of life, and informatics. After research and training barriers were discussed, the Working Group recommended outreach and educational programs for adults with congenital heart disease, a network of specialized adult congenital heart disease regional centers, technology development to support advances in imaging and modeling of abnormal structure and function, and a consensus on appropriate training for physicians to provide care for adults with congenital heart disease. PMID:16487831

  18. Maternal obesity and congenital heart defects: a population-based study123

    PubMed Central

    Mills, James L; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M

    2010-01-01

    Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased. Objective: This study was conducted to determine whether obesity is associated with an increased risk of congenital heart defects. Design: A population-based, nested, case-control study was conducted in infants born with congenital heart defects and unaffected controls from the cohort of all births (n = 1,536,828) between 1993 and 2003 in New York State, excluding New York City. The type of congenital heart defect, maternal body mass index (BMI; in kg/m2), and other risk factors were obtained from the Congenital Malformations Registry and vital records. Mothers of 7392 congenital heart defect cases and 56,304 unaffected controls were studied. Results: All obese women (BMI ≥ 30) were significantly more likely than normal-weight women (BMI: 19–24.9) to have children with a congenital heart defect [odds ratio (OR): 1.15; 95% CI: 1.07, 1.23; P < 0.0001]. Overweight women were not at increased risk (OR: 1.00; 95% CI: 0.94, 1.06). The risk in morbidly obese women (BMI ≥ 40) was higher (OR: 1.33; 95% CI: 1.15, 1.54; P = 0.0001) than that in obese women with a BMI of 30–39.9 (OR: 1.11; 95% CI: 1.04, 1.20; P = 0.004). There was a highly significant trend of increasing OR for congenital heart defects with increasing maternal obesity (P < 0.0001). The offspring of obese women had significantly higher ORs for atrial septal defects, hypoplastic left heart syndrome, aortic stenosis, pulmonic stenosis, and tetralogy of Fallot. Conclusions: Obese, but not overweight, women are at significantly increased risk of bearing children with a range of congenital heart defects, and the risk increases with increasing BMI. Weight reduction as a way to reduce risk should be investigated. PMID:20375192

  19. 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

  20. 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

  1. 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

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

    PubMed

    Qu, Yanji; Liu, Xiaoqing; 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

  3. Normothermia for Pediatric and Congenital Heart Surgery: An Expanded Horizon

    PubMed Central

    Shamsuddin, Ahmad Mahir; Nikman, Ahmad Mohd; Ali, Saedah; Zain, Mohd Rizal Mohd; Wong, Abdul Rahim; Corno, Antonio Francesco

    2015-01-01

    Cardiopulmonary bypass (CPB) in pediatric cardiac surgery is generally performed with hypothermia, flow reduction and hemodilution. From October 2013 to December 2014, 55 patients, median age 6 years (range 2 months to 52 years), median weight 18.5 kg (range 3.2–57 kg), underwent surgery with normothermic high flow CPB in a new unit. There were no early or late deaths. Fifty patients (90.9%) were extubated within 3 h, 3 (5.5%) within 24 h, and 2 (3.6%) within 48 h. Twenty-four patients (43.6%) did not require inotropic support, 31 (56.4%) received dopamine or dobutamine: 21 ≤5 mcg/kg/min, 8 5–10 mcg/kg/min, and 2 >10 mcg/kg/min. Two patients (6.5%) required noradrenaline 0.05–0.1 mcg/kg/min. On arrival to ICU and after 3 and 6 h and 8:00 a.m. the next morning, mean lactate levels were 1.9 ± 09, 2.0 ± 1.2, 1.6 ± 0.8, and 1.4 ± 0.7 mmol/L (0.6–5.2 mmol/L), respectively. From arrival to ICU to 8:00 a.m. the next morning mean urine output was 3.8 ± 1.5 mL/kg/h (0.7–7.6 mL/kg/h), and mean chest drainage was 0.6 ± 0.5 mL/kg/h (0.1–2.3 mL/kg/h). Mean ICU and hospital stay were 2.7 ± 1.4 days (2–8 days) and 7.2 ± 2.2 days (4–15 days), respectively. In conclusion, normothermic high flow CPB allows pediatric and congenital heart surgery with favorable outcomes even in a new unit. The immediate post-operative period is characterized by low requirement for inotropic and respiratory support, low lactate production, adequate urine output, minimal drainage from the chest drains, short ICU, and hospital stay. PMID:25973411

  4. 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.

  5. Can pulmonary vasodilator therapy expand the operative indications for congenital heart disease?

    PubMed

    Inai, Kei

    2015-01-01

    The operability of congenital heart disease with left to right shunt depends on the severity of the pulmonary vascular disease induced by the increased pulmonary blood flow. Although some recommendations exist regarding operative indications according to pathological, hemodynamic, and epidemiological factors, the evidence underlying these recommendations is not conclusive. Recently, oral pulmonary vasodilator therapy has been reported to improve outcomes in patients with idiopathic pulmonary arterial hypertension, and this therapy also appears to be effective in patients with congenital heart disease and pulmonary arterial hypertension, including those with postoperative pulmonary hypertension and Eisenmenger syndrome. It is expected that the availability of novel pulmonary vasodilator therapy will expand the operative indications in patients with congenital heart disease with left to right shunt, but there is currently insufficient evidence to definitively determine this. A multicenter double-blind study should be conducted to further examine this issue. PMID:25787792

  6. Choosing Between MRI and CT Imaging in the Adult with Congenital Heart Disease.

    PubMed

    Bonnichsen, Crystal; Ammash, Naser

    2016-05-01

    Improvements in the outcomes of surgical and catheter-based interventions and medical therapy have led to a growing population of adult patients with congenital heart disease. Adult patients with previously undiagnosed congenital heart disease or those previously palliated or repaired may have challenging echocardiographic examinations. Understanding the distinct anatomic and hemodynamic features of the congenital anomaly and quantifying ventricular function and valvular dysfunction plays an important role in the management of these patients. Rapid advances in imaging technology with magnetic resonance imaging (MRI) and computed tomography angiography (CTA) allow for improved visualization of complex cardiac anatomy in the evaluation of this unique patient population. Although echocardiography remains the most widely used imaging tool to evaluate congenital heart disease, alternative and, at times, complimentary imaging modalities should be considered. When caring for adults with congenital heart disease, it is important to choose the proper imaging study that can answer the clinical question with the highest quality images, lowest risk to the patient, and in a cost-efficient manner. PMID:27002621

  7. The evolving role of the total artificial heart in the management of end-stage congenital heart disease and adolescents.

    PubMed

    Ryan, Thomas D; Jefferies, John L; Zafar, Farhan; Lorts, Angela; Morales, David L S

    2015-01-01

    Advances in medical therapies have yielded improvement in morbidity and a decrease in mortality for patients with congenital heart disease, both surgically palliated and uncorrected. An unintended consequence is a cohort of adolescent and adult patients with heart failure who require alternative therapies. One intriguing option is placement of a total artificial heart (TAH) either as a bridge to transplant or as a destination therapy. Of the 1091 Jarvik-7 type TAH (Symbion, CardioWest and SynCardia) placed between 1985 and 2012, only 24 have been performed in patients with congenital heart disease, and a total of 51 were placed in patients younger than 21. At our institution, the SynCardia TAH was implanted in a 19-year-old patient with cardiac allograft failure because of chronic rejection and related multisystem organ failure including need for hemodialysis. Over the next year, she was nutritionally and physically rehabilitated, as were her end organs, allowing her to come off dialysis, achieve normal renal function and eventually be successfully transplanted. Given the continued growth of adolescent and adult congenital heart disease populations with end-stage heart failure, the TAH may offer therapeutic options where previously there were few. In addition, smaller devices such as the SynCardia 50/50 will open the door for applications in smaller children. The Freedom Driver offers the chance for patients to leave the hospital with a TAH, as does the AbioCor, which is a fully implantable TAH option. In this report, we review the history of the TAH and potential applications in adolescent patients and congenital heart disease. PMID:25248044

  8. 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

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

    PubMed Central

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

    2013-01-01

    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. PMID:24271490

  10. 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. PMID:24271490

  11. Why should we care about ethical and policy challenges in congenital heart disease?

    PubMed

    Kirkpatrick, James N; Kaufman, Beth

    2013-01-01

    Congenital heart disease (CHD) affects 1% of infants worldwide, and approximately 90% of children with serious CHD who have access to surgery survive to adulthood. Particularly as this population ages, there are unique ethical and policy challenges pertaining to this diverse population of children and adults, which also serve as a paradigm for other chronic diseases. A unique forum to discuss these issues occurred at the University of Pennsylvania in Philadelphia on March 16 to 17, 2012, and was entitled "Ethics of the Heart: Ethical and Policy Challenges in Adult and Pediatric Congenital Heart Disease." The conference convened a multidisciplinary panel of nationally known experts in the fields of Pediatric Congenital Heart Disease, Adult Congenital Heart Disease, and Bioethics to identify and discuss the most important ethical issues in CHD through talks, panel discussions, and one-on-one interviews in six topic areas: genetic testing, transitions of care from pediatric to adult CHD, transplantation and mechanical circulatory support, research and development in CHD, the social and personal costs of success in treating CHD, and end-of-life considerations. This article is an introduction to the topics discussed. PMID:23799747

  12. Noteworthy Literature in 2015: Anesthesia for Congenital Heart Disease.

    PubMed

    Twite, Mark; Ing, Richard J

    2016-03-01

    This article is a review of the literature published during the 12 months of 2015, which is of interest to the congenital cardiac anesthesiologist. While the review is not exhaustive, it identifies 7 themes in the literature for 2015 and cites 78 peer-reviewed publications. PMID:26783264

  13. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: Complex congenital cardiac lesions

    PubMed Central

    Silversides, Candice K; Oechslin, Erwin; Schwerzmann, Markus; Muhll, Isabelle Vonder; Khairy, Paul; Horlick, Eric; Landzberg, Mike; Meijboom, Folkert; Warnes, Carole; Therrien, Judith

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure and their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and multisystemic effects of single ventricle physiology, cyanosis, systemic right ventricles, complex intracardiac baffles and failing subpulmonary right ventricles. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD. Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part III of the guidelines includes recommendations for the care of patients with complete transposition of the great arteries, congenitally corrected transposition of the great arteries, Fontan operations and single ventricles, Eisenmenger’s syndrome, and cyanotic heart disease. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts, which are published online in the present issue of The Canadian Journal of Cardiology. The complete document and references can also be found at www.ccs.ca or www.cachnet.org. PMID:20352139

  14. 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

  15. 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

  16. Real-Time Color-Flow CMR in Adults with Congenital Heart Disease

    PubMed Central

    de la Pena, Erasmo; Nguyen, Patricia K.; Nayak, Krishna S.; Yang, Phillip C.; Rosenthal, David N.; Hu, Bob S.; Pauly, John M.; McConnell, Michael V.

    2015-01-01

    CMR is valuable in the evaluation of congenital heart disease (CHD). Traditional flow imaging sequences involve cardiac and respiratory gating, increasing scan time and susceptibility to arrhythmias. We studied a real-time color-flow CMR system for the detection of flow abnormalities in 13 adults with CHD. All 16 congenital flow abnormalities previously detected by echocardiography were visualized using color-flow CMR, including atrial septal defects (n = 4), ventricular septal defects (n = 9), aortic coarctation (n = 1), Blalock-Taussig shunt (n = 1) and Fontan shunt (n = 1). Real-time color-flow CMR can identify intra- and extra-cardiac flow abnormalities in adults with congenital heart disease. PMID:17060103

  17. 1q21.1 microduplication in a patient with mental impairment and congenital heart defect.

    PubMed

    Sun, Guowen; Tan, Zhiping; Fan, Liangliang; Wang, Jian; Yang, Yifeng; Zhang, Weizhi

    2015-10-01

    1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The parents and the monozygotic twin sister of the patient, however, were physically and psychologically normal. High‑resolution genome‑wide single nucleotide polymorphism array revealed a 1.6‑Mb duplication in chromosome region 1q21.1. This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis. However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion. To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China. PMID:26238956

  18. Effect of Congenital Heart Defects on Language Development in Toddlers with Down Syndrome

    ERIC Educational Resources Information Center

    Visootsak, J.; Hess, B.; Bakeman, R.; Adamson, L. B.

    2013-01-01

    Background: Down syndrome (DS, OMIM #190685) is the most commonly identified genetic form of intellectual disability with congenital heart defect (CHD) occurring in 50% of cases. With advances in surgical techniques and an increasing lifespan, this has necessitated a greater understanding of the neurodevelopmental consequences of CHDs. Herein, we…

  19. 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,…

  20. 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…

  1. Masquerading acidosis after cardiopulmonary bypass: a case of propionic acidemia and congenital heart disease.

    PubMed

    Palermo, Robert A; Monge, Michael C; Charrow, Joel; Costello, John M; Epting, Conrad L

    2015-04-01

    We report the case of a child with both propionic acidemia and cyanotic congenital heart disease. The presence of an underlying inborn error of metabolism confounded the management of this patient in the postoperative period, resulting in therapeutic misdirection until the true etiology of hyperlactemia was recognized. PMID:25870350

  2. 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

  3. 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…

  4. 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 ...

  5. Preoperative extracorporeal membrane oxygenation as a bridge to cardiac surgery in children with congenital heart disease

    PubMed Central

    Bautista-Hernandez, V; Thiagarajan, RR; Fynn-Thompson, F; Rajagopal, SK; Nento, DE; Yarlagadda, V; Teele, SA; Allan, CK; Emani, SM; Laussen, PC; Pigula, FA; Bacha, EA

    2014-01-01

    Background The efficacy of extracorporeal membrane oxygenation (ECMO) in bridging children with unrepaired heart defects to a definitive or palliative surgical procedure has been rarely reported. The goal of this study is to report our institutional experience with ECMO used to provide preoperative stabilization after acute cardiac or respiratory failure in patients with congenital heart disease before cardiac surgery. Methods A retrospective review of the ECMO database at Children's Hospital Boston was undertaken. Children with unrepaired congenital heart disease supported with ECMO for acute cardiac or respiratory failure as bridge to a definitive or palliative cardiac surgical procedure were identified. Data collection included patient demographics, indication for ECMO, details regarding ECMO course and complications, and survival to hospital discharge. Results Twenty-six patients (18 male, 8 female) with congenital heart disease were bridged to surgical palliation or anatomic repair with ECMO. Median age and weight at ECMO cannulation were, respectively, 0.12 months (range, 0 to 193) and 4 kg (range, 1.8 to 67 kg). Sixteen patients (62%) survived to hospital discharge. Variables associated with mortality included inability to decannulate from ECMO after surgery (p = 0.02) and longer total duration of ECMO (p = 0.02). No difference in outcomes was found between patients with single and biventricular anatomy. Conclusions Extracorporeal membrane oxygenation, used as a bridge to surgery, represents a useful modality to rescue patients with failing circulation and unrepaired complex heart defects. PMID:19766826

  6. Lifestyle Modification for the Prevention of Morbidity and Mortality in Adult Congenital Heart Disease.

    PubMed

    Rosenthal, Todd M; Leung, Steven T; Ahmad, Raza; Young, Thomas; Lavie, Carl J; Moodie, Douglas S; Shah, Sangeeta

    2016-01-01

    Patients with adult congenital heart disease are now living longer due to the advancements in medicine. As such, these patients are now experiencing morbidities that are commonly seen in the general population such as myocardial infarction, heart failure, and arrhythmias. Often times these problems can be attributed to the underlying adult congenital heart disease; however, a patient making poor lifestyle choices only compounds their risk for these life-threatening comorbidities. The aim of this article is to propose recommendations for health care providers to follow with this specific patient population. These recommendations encompass the importance of proper caloric intake, methods of weight loss (including behavioral therapy, drugs, and surgeries), practical recommendations for physical activity, and the implications of substance abuse. Being proactive and addressing important lifestyle choices in this population can reduce comorbidities and, therefore, medical cost. PMID:26931766

  7. 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

  8. Mechanical circulatory support: strategies and outcomes in pediatric congenital heart disease.

    PubMed

    Kirklin, James K; Bennett Pearce, F; Dabal, Robert J; Carlo, Waldemar F

    2014-01-01

    Patients with acute or progressive heart failure in the setting of congenital heart disease may need mechanical circulatory support (MCS) to enhance survival while awaiting cardiac transplantation. Because the majority of MCS devices are implanted after prior cardiac operations, special precautions are necessary at the time of implant. MCS in single ventricle patients usually requires ventricular and aortic cannulation, with a systemic to pulmonary artery shunt for pulmonary blood flow. Limited outcomes data is available, with less than 15% of pediatric MCS patients having congenital heart disease. The Berlin EXCOR is the only durable device currently available for infants. Neurologic complications are the major cause of mortality, and survival during support is poor for infants <5 kg. Patients post-Fontan with acute cardiac failure and/or respiratory failure are at high risk for death before transplant and should be considered for MCS therapy. Several emerging miniature continuous flow devices will soon broaden the landscape of available pediatric devices. PMID:24725719

  9. [Intravenous arginine vasopressin for two pediatric cases of pulmonary hypertension after congenital heart surgery].

    PubMed

    Nagamine, Yusuke; Hara, Mariko

    2012-10-01

    We experienced two pediatric cases of severe pulmonary hypertension after congenital heart surgery. It was difficult to wean two cases from cardiopulmonary bypass for systemic hypotension concomitant with pulmonary hypertension reflactory to conventional therapy, including administration of adrenaline, nitroglycerin, milrinone, and/or inhalation of nitric oxide. In order to increase systemic arterial blood pressure and improve severe right heart failure, we administered arginine vasopressin (AVP) intravenously, which is a potent vasoconstrictor via V1 receptor. The dose of AVP was 0.0002 unit x kg(-1) x min(-1). After administration of AVP, systemic arterial pressure increased markedly and pulmonary arterial pressure decreased slightly, and we succeeded in weaning the patients from cardiopulmonary bypass. No adverse effect with AVP was found. In conclusion, administration of AVP is a therapeutic option for treating systemic hypotension concomitant with severe pulmonary hypertension in pediatric congenital heart surgery. PMID:23157099

  10. Grown-up congenital heart (GUCH) disease: current needs and provision of service for adolescents and adults with congenital heart disease in the UK

    PubMed Central

    2002-01-01

    The size of the national population of patients with grown-up congenital heart disease (GUCH) is uncertain, but since 80–85% of patients born with congenital heart disease now survive to adulthood (age 16 years), an annual increase of 2500 can be anticipated according to birth rate. Organisation of medical care is haphazard with only three of 18 cardiac surgical centres operating on over 30 cases per annum and only two established specialised units fully equipped and staffed. Not all grown-ups with congenital heart disease require the same level of expertise; 20–25% are complex, rare, etc, and require life long expert supervision and/or intervention; a further 35–40% require access to expert consultation. The rest, about 40%, have simple or cured diseases and need little or no specialist expertise. The size of the population needing expertise is small in comparison to coronary and hypertensive disease, aging, and increasing in complexity. It requires expert cardiac surgery and specialised medical cardiology, intensive care, electrophysiology, imaging and interventions, "at risk" pregnancy services, connection to transplant services familiar with their basic problem, clinical nurse specialist advisors, and trained nurses. An integrated national service is described with 4–6 specialist units established within adult cardiology, ideally in relation or proximity to university hospital/departments in appropriate geographic location, based in association with established paediatric cardiac surgical centres with designated inpatient and outpatient facilities for grown-up patients with congenital heart disease. Specialist units should accept responsibility for educating the profession, training the specialists, cooperative research, receiving patients "out of region", sharing particular skills between each other, and they must liaise with other services and trusts in the health service, particularly specified outpatient clinics in district and regional centres. Not

  11. 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

  12. 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

  13. 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

  14. The Adult Congenital and Pediatric Cardiology Section: increasing the opportunities for the congenital heart disease community within the American College of Cardiology.

    PubMed

    Martin, Gerard R; Mitchell, Stephanie; Beekman, Robert H; Feinstein, Jeffrey A; Jenkins, Kathy J; Landzberg, Michael; Webb, Gary

    2012-01-01

    The Adult Congenital and Pediatric Cardiology (AC/PC) Section was established to develop a clear voice within the American College of Cardiology and address the myriad issues facing the congenital heart disease profession. The Section is governed by the AC/PC Council, which includes pediatric cardiologists, adult congenital cardiologists, a cardiac care associate, and a fellow-in-training member. The Council is responsible for bidirectional communication between the College's Board of Trustees and the AC/PC Section members. Since its founding in 2004, Section objectives have been defined by the College's mission: to advocate for quality cardiovascular care through education, research promotion, and the development and application of standards and guidelines and to influence health care policy. The pillars of the College-advocacy, quality, education, and member engagement-serve as the defining template for the Section's strategy. The Section has developed work groups in advocacy, clinical practice, education and training, quality, and publications. A separate leadership group has been developed for adult congenital heart disease. Work groups are open to all Section members. Recognition of the importance of lifelong care in congenital heart disease led Section leaders to incorporate pediatric cardiology and adult congenital heart disease content into each of the work groups. There are more than 1,200 Section members, with nearly 400 members actively contributing to Section activities. This article outlines Section efforts to date and highlights significant successes to date. PMID:22192673

  15. 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.

  16. 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.

  17. 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

  18. Rare combination of congenital heart disease and pulmonary alveolar proteinosis.

    PubMed

    Tanaka, Yuki; Miyamoto, Takashi; Yoshitake, Shuichi; Naito, Yuji; Kobayashi, Tomio

    2015-10-01

    Here, we describe a case of total anomalous pulmonary venous return with coarctation of the aorta that was diagnosed as pulmonary alveolar proteinosis at autopsy in a male infant. Surgical repair was performed at 1 day of age, but the infant died on postoperative day 51 due to respiratory insufficiency without any evidence of pulmonary venous obstruction. He had been unexpectedly diagnosed with pulmonary alveolar proteinosis and pulmonary hypoplasia on autopsy. Congenital pulmonary alveolar proteinosis is a serious condition with a high mortality rate, which should be considered in the differential diagnosis in patients with a clinical picture of pulmonary venous obstruction, because most patients are unable to survive without proper treatment. In this report, we address specific issues that should be discussed in such cases based on our recent experience. PMID:26310609

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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.

  4. Risk Factors for post-Cardiac Surgery Diaphragmatic Paralysis in Children with Congenital Heart Disease

    PubMed Central

    Akbariasbagh, Parvin; Mirzaghayan, Mohammad Reza; Akbariasbagh, Naseredin; Shariat, Mamak; Ebrahim, Bita

    2015-01-01

    Background: Injured phrenic nerve secondary to cardiac surgeries is the most common cause of diaphragmatic paralysis (DP) in infants. The aim of this study was to determine the risk factors for DP caused by congenital heart defect corrective surgeries in pediatrics. Methods: This cross-sectional study, conducted in a 2-year period (2006–2008), included 451 children with congenital heart diseases admitted to the Pediatric Cardiac Surgery Ward of Imam Khomeini Hospital. The diaphragmatic function was examined via fluoroscopy, and the frequency of DP and its relevant parameters were evaluated. Results: Of the 451 patients, comprising 268 males and 183 females at an age range of 3 days to 204 months (28.2 ± 33.4 months), 25 (5.5%) infants (60% male and 40% female, age range = 15 days to 132 months, 41.2 ± 28.1 months) had DP as follows: 48% unilateral right-sided and 36% unilateral left-sided. Additionally, 68% had cyanotic congenital heart disease and 84% had DP following total correction surgery. The highest prevalence rates of DP resulting in phrenic hemiparesis were observed after arterial switch operation, Fontan procedure, and Blalock–Taussig shunt surgery, respectively. Thirteen (52%) of the 25 DP patients underwent surgical diaphragmatic plication because of severe respiratory distress and dependency on mechanical ventilation, and most of the cases of plication underwent arterial switch operation. The rate of mortality was 24% (6 patients). Conclusion: DP with a prevalence of 5.5% was one of the most common complications secondary to cardiac surgeries in the infants included in the present study. Effective factors were age, weight, cyanotic congenital heart defects, and previous cardiac surgery. Diaphragmatic plication improved prognosis in severe cases. PMID:26697086

  5. 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.

  6. 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. PMID:23733790

  7. Bronchial compression due to stent placement in pulmonary artery in a child with congenital heart disease.

    PubMed

    Núñez, Mónica; Beleña, José; Cabeza, Raúl; Beltrán, María

    2005-12-01

    Congenital heart disease, such as transposition of the great vessels (TGV), requires surgical procedures which can lead to important complications. We report on a case of bronchial obstruction following placement of a pulmonary artery stent in a 4-year-old boy who had undergone a Rastelli procedure to correct TGV, ventricular septal defect and pulmonary stenosis. There are many complications that can arise as a consequence of intravascular stents in heart surgery, as well as many causes of bronchial compression. However we have not found any report which describes bronchial compression as a direct consequence of endovascular stent. PMID:16324040

  8. 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.

  9. 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.

  10. Twenty-five years of progress in the medical treatment of pediatric and congenital heart disease.

    PubMed

    McNamara, D G

    1983-01-01

    In the past 25 years there has been a many-fold increase in the prospect that with early recognition and modern treatment the newborn with critical congenital heart disease will reach adult life in a healthy condition, prepared to earn a living and to function as a spouse and as a parent. Advancements in the medical treatment of congenital heart disease may create less public acclaim than may surgical treatment but many purely medical developments provide the basis for achieving ultimate surgical success and, by judicious use of some forms of medical treatment, operation can be avoided altogether. The eight major contributions to patient care that are discussed in this review and the 35 that are simply listed are merely examples of the many developments that have occurred in the past 25 years. These include: 1) the organization of pediatric cardiology and the contribution of volunteer health organizations, 2) continuing medical education aimed at promoting early diagnosis of congenital heart disease and prompt referral to a cardiac center, 3) advances in the technology of cardiac catheterization, 4) Rashkind's balloon atrial septostomy and other catheter manipulative procedures, 5) pharmacologic manipulation of the ductus, 6) beta-adrenergic blockade for control of a variety of problems, including paroxysmal hypoxemic attacks, certain arrhythmias and relief of symptoms in hypertrophic cardiomyopathy, 7) echocardiography, and 8) advances in arrhythmias, electrophysiologic studies and use of pacemakers. PMID:6131085

  11. Assessment of right ventricular systolic function by echocardiography after surgical repair of congenital heart defects.

    PubMed

    Khraiche, Diala; Ben Moussa, Nidhal

    2016-02-01

    Postoperative impairment of right ventricular (RV) systolic function can appear after surgical repair of complex congenital heart defects, such as tetralogy of Fallot; it is caused by chronic volume and/or pressure overload due to pulmonary regurgitation and/or stenosis. RV dysfunction is strongly associated with prognosis in these patients. Cardiac magnetic resonance imaging is the gold standard for quantification of RV volumes and ejection fraction in patients with congenital heart diseases; however, it is costly and is not widely available. Echocardiography is the imaging modality that is most available and most frequently used to assess RV systolic function. However, RV ejection fraction cannot be measured accurately by standard two-dimensional echocardiography because of its pyramidal shape. Surrogate parameters of RV systolic function are mostly used in routine practice. New techniques of two-dimensional strain and three-dimensional quantification of RV volumes and ejection fraction have been developed in recent years. The aim of this article is to show the pertinence of each variable of RV systolic function measured by echocardiography in patients with repaired congenital heart disease and residual chronic RV overload. PMID:26774976

  12. [Congenital heart malformations in neonates, infants and young children (author's transl)].

    PubMed

    Swiderski, J

    1975-01-01

    Congenital heart malformations in neonates, infants and young children represent the main problem of paediatric cardiology in Poland. Congenital cardiovascular diseases (incidence also approximately 8 per 1000 in liveborn infants) cause very high mortality, particularly in the neonatal and infantile period. Approximately 5000 live-born children are affected every year by serious heart malformations. For at least two thirds of these previously hopelessly ill infants there are real possibilities of effective medical and surgical treatment. Not only a considerable drop in mortality in the earliest infancy would be achieved, but: a further normal physical and psychical growth and development of these children would be possible. At present, however, the available possibilities are by far not sufficient, as in all hitherto functioning centres we were able to manage 200-300 children yearly, whereas the real needs are at leasttenfold greater. Therefore it is necessary to: Increase the number and capacity of hospital wards capable enough to provide the intensive cardiopulmonary care; to execute appropriate reorganization aimed to concentrating the appropriate specialists (pediatric cardiologists, radiologists, surgeons, anesthesiologists, nurses) and equipment (cardiological and cardiosurgical appliances, X-ray equipment, intensive care units etc.) in centres designated for the above tasks. At least 7 paediatric intensive care and cardiosurgical centres should be instituted in Poland for a satisfactory management of congenital heart diseases. PMID:4787

  13. [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

  14. Prevalence of severe congenital heart disease after folic acid fortification of grain products: time trend analysis in Quebec, Canada

    PubMed Central

    Ionescu-Ittu, Raluca; Marelli, Ariane J; Mackie, Andrew S

    2009-01-01

    Objective To investigate whether the 1998 government policy for mandatory fortification of flour and pasta products with folate was followed by a reduction in the prevalence of severe congenital heart defects. Design Time trend analysis. Setting Province of Quebec, Canada. Participants Infants born in 1990-2005 identified with severe congenital heart defects (tetralogy of Fallot, endocardial cushion defects, univentricular hearts, truncus arteriosus, or transposition complexes) in Quebec administrative databases. Methods Data analysed in two time periods (before and after fortification). Birth prevalence measured annually as infants (live and stillbirths) with severe congenital heart defects per 1000 births in Quebec. Changes in the birth prevalence from the period before to the period after fortification were estimated with Poisson regression. Results Among the 1 324 440 births in Quebec in 1990-2005 there were 2083 infants born with severe congenital heart defects, corresponding to an average birth prevalence of 1.57/1000 births. Time trend analysis showed no change in the birth prevalence of severe birth defects in the nine years before fortification (rate ratio 1.01, 95% confidence interval 0.99 to 1.03), while in the seven years after fortification there was a significant 6% decrease per year (0.94, 0.90 to 0.97). Conclusions Public health measures to increase folic acid intake were followed by a decrease in the birth prevalence of severe congenital heart defects. These findings support the hypothesis that folic acid has a preventive effect on heart defects. PMID:19436079

  15. Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.

    PubMed

    Piacentini, Gerardo; Digilio, M Cristina; Capolino, Rossella; Zorzi, Andrea De; Toscano, Alessandra; Sarkozy, Anna; D'Agostino, Rita; Marasini, Maurizio; Russo, M Giovanna; Dallapiccola, Bruno; Marino, Bruno

    2005-08-30

    Familial recurrence of congenitally corrected transposition of the great arteries (CCTGA) is considered uncommon. Most of the previous familial studies involved a small number of patients and referred to all situs and looping anomalies including single ventricle, heterotaxia, and other cardiac defects different from CCTGA. We performed a large, consecutive clinical case series study in order to detect the recurrence of congenital heart defects in families of children with the classic form of CCTGA. From January 1997 through December 2004, 102 consecutive patients with CCTGA were evaluated in four institutions. There were 59 male (57.8%) and 43 female (42.2%). Mean age was 8.6 +/- 7.8 years. Eighty-eight patients (86.3%) had situs solitus of the atria, 14 (13.7%) situs inversus. The cardiac and extracardiac anomalies among relatives and the patterns of familial recurrence were investigated. Relatives with congenital heart defects were found in 16/102 families (15.7%). Transposition of the great arteries (TGA) was the most common recurrent defect (6/102 families). Consanguinity was identified in the parents of three probands. Six probands had an unaffected twin-sib. Recurrence risks for congenital heart defects were calculated at 5.2% (6/116) for siblings. In conclusion, CCTGA is not always sporadic in families. The pattern of inheritance, the presence of consanguinity among parents and the recurrence of situs inversus could suggest, in some families, an autosomal recessive mechanism with similarities with that occurring in some pedigrees with heterotaxia. The recurrence of TGA and CCTGA in the same family suggests a pathogenetic link between these two anatomically different malformations. PMID:16059940

  16. 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.

  17. Caries experience in young children with congenital heart disease in a developing country.

    PubMed

    Pimentel, Elizangela Lins Cavalcanti; Azevedo, Vitor Manuel Pereira; Castro, Rodolfo de Almeida Lima; Reis, Luciana Carvalho; De Lorenzo, Andrea

    2013-01-01

    Oral care is frequently suboptimal in children from developing countries, especially those suffering from severe systemic diseases. The aim of the present study was to analyze the oral epidemiological profile of 3-to-5-year-old children with congenital heart disease. Dental and medical records of children evaluated at the Dental Service of the National Institute of Cardiology, Rio de Janeiro, Brazil, were reviewed. Caries experience was reported using the dmft index. Negative behavior towards dental management was recorded. The sample consisted of 144 children aged 4.41 ± 0.95 years. The mean dmft value was 5.4 ± 4.9, and 80.5% had at least one caries lesion. Dmft index was greater in the presence of cyanotic cardiac disease and in children with negative behavior. An increase in the "missing" component of the dmft index was also found in children using medicine on a daily basis. A higher caries experience was associated with children whose fathers had only an elementary education. In conclusion, children with congenital heart disease had high levels of caries experience at a young age. Cyanosis, negative behavior, daily use of medicine, one-parent family and the educational level of fathers seem to influence caries experience in children with congenital cardiac disease. PMID:23538422

  18. 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

  19. Congenital coronary artery-left heart fistulas: Report of three cases

    PubMed Central

    Pezzella, A. Thomas; Falaschi, Giorgio; Ott, David A.; Cooley, Denton A.

    1981-01-01

    Of 59 patients who underwent operative correction of congenital coronary artery fistulas from May 1956 through May 1980 at our institution, three had fistulas that arose from the coronary artery and terminated in the left heart. The chief indication for surgical correction in such patients is the presence of symptoms or the development of complications, which include rupture, endocarditis, and congestive heart failure. The principal objective of repair is closure or obliteration of the fistulous communication and preservation of distal myocardial perfusion. Because symptoms and complications tend to occur with age, elective ligation is warranted during childhood, even in asymptomatic patients. The three cases described here, as well as the reviewed series of left heart fistulas, substantiate this fact. All three patients were symptomatic before operation and asymptomatic afterward. PMID:15216192

  20. Detection of Alpha II-Spectrin Breakdown Products in the Serum of Neonates With Congenital Heart Disease

    PubMed Central

    Jain, Parag; Spaeder, Michael C.; Donofrio, Mary T.; Sinha, Pranava; Jonas, Richard A.; Levy, Richard J.

    2014-01-01

    Objectives To determine if alpha II-spectrin breakdown products can be detected in the serum of neonates with congenital heart disease in the perioperative period. Design Prospective observational cohort study. Setting Pediatric cardiac ICU in an urban tertiary care academic center. Patients Neonates with congenital heart disease undergoing surgical repair or palliation. Interventions Serial blood sampling for measurement of 120 and 150 kDa spectrin breakdown products. Measurements and Main Results Fourteen neonates with congenital heart disease undergoing cardiac surgery were evaluated. Nine infants underwent open-heart surgery and five underwent closed-heart surgery. Serum spectrin breakdown products were measured with sandwich enzyme-linked immunosorbent assay preoperatively and then 6, 24, 48, 72, and 96 hours following surgery. Brain imaging was obtained as part of routine clinical care in 12 patients pre-operatively and six patients postoperatively. Six patients had normal preoperative imaging (three closed-heart surgery and three open-heart surgery), whereas six had evidence of neurologic injury prior to surgery (one closed-heart surgery and five open-heart surgery). Only one patient had a postoperative imaging study that lacked injury. All others demonstrated infarction or hemorrhage. Spectrin breakdown product 120 kDa significantly increased 24 hours after open-heart surgery compared to preoperative values and time-matched closed-heart surgery levels. Spectrin breakdown product 150 kDa significantly increased 6 hours after open-heart surgery compared to preoperative values. There was no significant change in spectrin breakdown products following closed-heart surgery. Peak spectrin breakdown products significantly increased following open-heart surgery compared to closed-heart surgery. Conclusions Spectrin breakdown products can be detected in the serum of neonates with congenital heart disease in the perioperative period and levels increased to a greater

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

    PubMed

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

    2016-05-15

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

  2. Subcutaneous implantable cardioverter defibrillators in children, young adults and patients with congenital heart disease.

    PubMed

    Bordachar, Pierre; Marquié, Christelle; Pospiech, Thomas; Pasquié, Jean-Luc; Jalal, Zakaria; Haissaguerre, Michel; Thambo, Jean-Benoit

    2016-01-15

    The demonstration of severe complications in patients implanted with a transvenous implantable cardioverter defibrillator (ICD) has led to the development of devices equipped with a subcutaneous lead. This new technique offers numerous advantages but also certain disadvantages. Various studies or anecdotal clinical cases have specifically been conducted with this subcutaneous defibrillation system in children and/or patients with congenital heart disease. Results of these studies suggest: 1) a high feasibility despite being limited by a selection process that excludes patients requiring permanent pacing and patients declared ineligible during pre-screening; 2) good efficacy of electrical shocks in reducing induced or spontaneous ventricular arrhythmias; 3) in this specific subset of patients, 2 types of complications have been particularly described: a risk of device exteriorization and infection, and a large number of inappropriate therapies primarily related to T-wave oversensing. The subcutaneous ICD could therefore constitute the gold standard for patients with complex congenital heart disease with no venous access to the heart or with a persistent shunt increasing the risk of systemic emboli as well as in young patients with channelopathy or hypertrophic cardiomyopathy not requiring long-term pacing. Technological change (reduction in device size, better differentiation between R- and T-waves, possibility of pacing if device coupled with a leadless pacemaker) could reduce the limitations and complications and thereby increase the indications in this sub-group of patients. PMID:26519678

  3. 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. PMID:23410879

  4. In Vitro Simulation and Validation of the Circulation with Congenital Heart Defects

    PubMed Central

    Figliola, Richard S.; Giardini, Alessandro; Conover, Tim; Camp, Tiffany A.; Biglino, Giovanni; Chiulli, John; Hsia, Tain-Yen

    2010-01-01

    Despite the recent advances in computational modeling, experimental simulation of the circulation with congenital heart defect using mock flow circuits remains an important tool for device testing, and for detailing the probable flow consequences resulting from surgical and interventional corrections. Validated mock circuits can be applied to qualify the results from novel computational models. New mathematical tools, coupled with advanced clinical imaging methods, allow for improved assessment of experimental circuit performance relative to human function, as well as the potential for patient-specific adaptation. In this review, we address the development of three in vitro mock circuits specific for studies of congenital heart defects. Performance of an in vitro right heart circulation circuit through a series of verification and validation exercises is described, including correlations with animal studies, and quantifying the effects of circuit inertiance on test results. We present our experience in the design of mock circuits suitable for investigations of the characteristics of the Fontan circulation. We use one such mock circuit to evaluate the accuracy of Doppler predictions in the presence of aortic coarctation. PMID:21218147

  5. Transparency and Public Reporting of Pediatric and Congenital Heart Surgery Outcomes in North America.

    PubMed

    Jacobs, Jeffrey P; Jacobs, Marshall L

    2016-01-01

    Health care is embarking on a new era of increased transparency. In January 2015, the Society of Thoracic Surgeons (STS) began to publicly report outcomes of pediatric and congenital cardiac surgery using the 2014 Society of Thoracic Surgeons Congenital Heart Surgery Database (STS CHSD) Mortality Risk Model. Because the 2014 STS CHSD Mortality Risk Model adjusts for procedural factors and patient-level factors, it is critical that centers are aware of the important impact of incomplete entry of data in the fields for patient-level factors. These factors are used to estimate expected mortality, and incomplete coding of these factors can lead to inaccurate assessment of case mix and estimation of expected mortality. In order to assure an accurate assessment of case mix and estimate of expected mortality, it is critical to assure accurate completion of the fields for patient factors, including preoperative factors. It is crucial to document variables such as whether the patient was preoperatively ventilated or had an important noncardiac congenital anatomic abnormality. The lack of entry of these variables will lead to an underestimation of expected mortality. The art and science of assessing outcomes of pediatric and congenital cardiac surgery continues to evolve. In the future, when models have been developed that encompass other outcomes in addition to mortality, pediatric and congenital cardiac surgical performance may be able to be assessed using a multidomain composite metric that incorporates both mortality and morbidity, adjusting for the operation performed and for patient-specific factors. It is our expectation that in the future, this information will also be publicly reported. In this era of increased transparency, the complete and accurate coding of both patient-level factors and procedure-level factors is critical. PMID:26714994

  6. 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

  7. 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

  8. Spectrum of congenital heart disease in a tropical environment: an echocardiography study.

    PubMed Central

    Sani, Mahmoud U.; Mukhtar-Yola, Mariya; Karaye, Kamilu M.

    2007-01-01

    Echocardiography is a major mode of cardiovascular imaging with versatile applications. Modern two-dimensional echocordiographic techniques provide a comprehensive means for evaluating virtually all forms of congenital heart disease (CHD) found in both adults and children. CHD is an abnormality in cardiocirculatory structure or function that is present at birth, even if it is discovered much later. We set out to describe the spectrum of CHD using echocardiography in two centers in Kano, northern Nigeria. In this retrospective study, transthoracic echocardiography (TTE) data collected from two echocardiography laboratories in Kano over a period of 48 months (June 2002 to May 2006) were reviewed. Patients with diagnosis of congenital heart disease were selected. Information obtained from the records included the age, gender, clinical diagnosis and echocardiographic findings. One-hundred-twenty-two patients had CHD, making 9.3% of the 1312 patients with abnormal echocardiograms. There were 73 males and 49 females (ratio 1.5:1); and their ages ranged from nine days to 35 years. Forty-one (33.6%) children presented for echocardiography before the age of one year, and 69% presented before the age of five years. Thirteen (10.6%) were > or =18 years. Ventricular septal defect (VSD) was the most common echocardiographic diagnosis present in 56 patients (45.9%). Thirty-two (26.2%) had tetralogy of Fallot, and 15 (12.3%) had atrial septal defect (ASD). Ten (8.2%) had endocardial cushion defect, and nine (7.4%) had other congenital heart abnormalities. Coarctation of the aorta and aortic stenosis were rare. CHD is a common cardiovascular problem in our setting, and a number of patients were diagnosed in adulthood. With increasing availability of echocardiographic facilities, more cases of CHD are likely to be identified early. PMID:17595936

  9. Management of pregnancy in women with palliated and unpalliated congenital heart defects.

    PubMed

    Chugh, Reema

    2007-10-01

    Medical advancements have made it possible for more women with congenital heart defects (CHDs) to carry successful pregnancies. Most CHD surgeries or interventions are palliative with persistent residua and sequelae exacerbated by the physiologic stresses of pregnancy. Preconception assessment, a tailored multidisciplinary approach during pregnancy, and a planned, elective delivery followed by careful postpartum monitoring may improve outcomes. Teratogenic medications should be stopped and changed to safer alternatives. Major hemodynamic changes in pregnancy, labor, and delivery may aggravate the underlying cardiovascular defects. Interventions or surgeries, when anticipated, should be performed before pregnancy. Antibiotic prophylaxis is indicated for nearly all palliated and unpalliated defects. PMID:17897571

  10. Health considerations for children with congenital heart disease in school: part 1.

    PubMed

    O'Brien, Patricia; Evangelista, Juli-anne; Green, Angela; Uzark, Karen

    2012-11-01

    School participation for children with congenital heart disease (CHD) can be challenging. Despite advances in treatment that have increased survival to adulthood and decreased morbidity, concerns remain about their health and safety in the school environment. This article, the first in a two-part series, provides an overview of the health issues involving school-age children with CHD. School nurses are in a unique position to advocate for the child's health care needs in the school setting, facilitate communication with the health care team, educate school personnel, and participate in the individualized educational planning process. PMID:23193726

  11. Anesthetic management for separation of thoracopagus twins with complex congenital heart disease: a case report.

    PubMed

    Seo, Misook; Chung, In-Sun; Karm, Myong-Hwan; Oh, Ji Mi; Shin, Won-Jung

    2015-06-01

    Although thoracopagus twins joined at the upper chest are the most common type of conjoined twins, the separation surgery in these cases has a higher mortality rate. Here, we describe an anesthetic management approach for the separation of thoracopagus conjoined twins sharing parts of a congenitally defective heart and liver. We emphasize the importance of vigilant intraoperative hemodynamic monitoring for early detection of unexpected events. Specifically, real-time continuous monitoring of cerebral oximetry using near-infrared spectroscopy allowed us to promptly detect cardiac arrest and hemodynamic deterioration. PMID:26045935

  12. Anesthetic management for separation of thoracopagus twins with complex congenital heart disease: a case report

    PubMed Central

    Seo, Misook; Chung, In-Sun; Karm, Myong-Hwan; Oh, Ji Mi

    2015-01-01

    Although thoracopagus twins joined at the upper chest are the most common type of conjoined twins, the separation surgery in these cases has a higher mortality rate. Here, we describe an anesthetic management approach for the separation of thoracopagus conjoined twins sharing parts of a congenitally defective heart and liver. We emphasize the importance of vigilant intraoperative hemodynamic monitoring for early detection of unexpected events. Specifically, real-time continuous monitoring of cerebral oximetry using near-infrared spectroscopy allowed us to promptly detect cardiac arrest and hemodynamic deterioration. PMID:26045935

  13. 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

  14. Pulse Oximetry Screening for Critical Congenital Heart Disease: Bringing Evidence Into Practice.

    PubMed

    Amsbaugh, Sarah; Scott, Shannon D; Foss, Karen

    2015-01-01

    Congenital heart disease is the most common and serious type of infant birth defect. Pulse oximetry screening has been supported in the literature as a valuable tool to aid in the prompt detection of critical defects. Pulse oximetry is easily accessible, inexpensive, and noninvasive, and can be readily performed by clinical nurses at the infant's bedside; however, it remains a technology that is underutilized in newborns. Nurses can be leaders in addressing the need to translate knowledge into practice to improve the morbidity and mortality rates in the newborn population. PMID:25458107

  15. Brain in Congenital Heart Disease Across the Lifespan: The Cumulative Burden of Injury.

    PubMed

    Marelli, Ariane; Miller, Steven P; Marino, Bradley Scott; Jefferson, Angela L; Newburger, Jane W

    2016-05-17

    The number of patients surviving with congenital heart disease (CHD) has soared over the last 3 decades. Adults constitute the fastest-growing segment of the CHD population, now outnumbering children. Research to date on the heart-brain intersection in this population has been focused largely on neurodevelopmental outcomes in childhood and adolescence. Mutations in genes that are highly expressed in heart and brain may cause cerebral dysgenesis. Together with altered cerebral perfusion in utero, these factors are associated with abnormalities of brain structure and brain immaturity in a significant portion of neonates with critical CHD even before they undergo cardiac surgery. In infancy and childhood, the brain may be affected by risk factors related to heart disease itself or to its interventional treatments. As children with CHD become adults, they increasingly develop heart failure, atrial fibrillation, hypertension, diabetes mellitus, and coronary disease. These acquired cardiovascular comorbidities can be expected to have effects similar to those in the general population on cerebral blood flow, brain volumes, and dementia. In both children and adults, cardiovascular disease may have adverse effects on achievement, executive function, memory, language, social interactions, and quality of life. Against the backdrop of shifting demographics, risk factors for brain injury in the CHD population are cumulative and synergistic. As neurodevelopmental sequelae in children with CHD evolve to cognitive decline or dementia during adulthood, a growing population of CHD can be expected to require support services. We highlight evidence gaps and future research directions. PMID:27185022

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

    PubMed Central

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

    2011-01-01

    Almost 15 years of careful study have established the related 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, post-transcriptionally by microRNAs, and post-translationally through phospho-regulation, 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 disregulation translates to human disease phenotypes. The following review summarizes the insight animal models have provided into the regulation and function of these factors during heart development, and the recent findings that suggest roles for HAND1 and HAND2 in human congenital heart disease. PMID:21462297

  17. Vulnerability of the Developing Heart to Oxygen Deprivation as a Cause of Congenital Heart Defects

    PubMed Central

    Kenchegowda, Doreswamy; Liu, Hongbin; Thompson, Keyata; Luo, Liping; Martin, Stuart S.; Fisher, Steven A.

    2014-01-01

    Background The heart develops under reduced and varying oxygen concentrations, yet there is little understanding of oxygen metabolism in the normal and mal‐development of the heart. Here we used a novel reagent, the ODD‐Luc hypoxia reporter mouse (oxygen degradation domain, ODD) of Hif‐1α fused to Luciferase (Luc), to assay the activity of the oxygen sensor, prolyl hydroxylase, and oxygen reserve, in the developing heart. We tested the role of hypoxia‐dependent responses in heart development by targeted inactivation of Hif‐1α. Methods and Results ODD‐Luciferase activity was 14‐fold higher in mouse embryonic day 10.5 (E10.5) versus adult heart and liver tissue lysates. ODD‐Luc activity decreased in 2 stages, the first corresponding with the formation of a functional cardiovascular system for oxygen delivery at E15.5, and the second after birth consistent with complete oxygenation of the blood and tissues. Reduction of maternal inspired oxygen to 8% for 4 hours caused minimal induction of luciferase activity in the maternal tissues but robust induction in the embryonic tissues in proportion to the basal activity, indicating a lack of oxygen reserve, and corresponding induction of a hypoxia‐dependent gene program. Bioluminescent imaging of intact embryos demonstrated highest activity in the outflow portion of the E13.5 heart. Hif‐1α inactivation or prolonged hypoxia caused outflow and septation defects only when targeted to this specific developmental window. Conclusions Low oxygen concentrations and lack of oxygen reserve during a critical phase of heart organogenesis may provide a basis for vulnerability to the development of common septation and conotruncal heart defects. PMID:24855117

  18. 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. PMID:27102511

  19. [The current state and future of care of patients with congenital heart defects].

    PubMed

    Táborský, Miloš; Popelová, Jana; Nečasová, Anna; Janoušek, Jan; Černý, Štěpán; Němec, Petr; Pirk, Jan; Šamánek, Milan

    2015-05-01

    Care of patients with congenital heart diseases in Czech Republic does not have only important history, falling to the prewar period, but especially systematic and long-term work with excellent results in pediatric patients. With improvements in the care of these patients also improves their survival with the need for continuous care in adulthood including reoperation, catheter ablations incisional tachycardias and other specialized procedures in difficult heart morphology. The article is a reflection and an appeal to all responsible professionals, organizers and payers of health care, how to proceed and provide specialized training, continuity of care for these patients, including proposed organizational changes and outlines the need for further development in this important medical field. PMID:26075857

  20. The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2016 Update on Outcomes and Quality.

    PubMed

    Jacobs, Jeffrey P; Mayer, John E; Mavroudis, Constantine; O'Brien, Sean M; Austin, Erle H; Pasquali, Sara K; Hill, Kevin D; He, Xia; Overman, David M; St Louis, James D; Karamlou, Tara; Pizarro, Christian; Hirsch-Romano, Jennifer C; McDonald, Donna; Han, Jane M; Dokholyan, Rachel S; Tchervenkov, Christo I; Lacour-Gayet, Francois; Backer, Carl L; Fraser, Charles D; Tweddell, James S; Elliott, Martin J; Walters, Hal; Jonas, Richard A; Prager, Richard L; Shahian, David M; Jacobs, Marshall L

    2016-03-01

    The Society of Thoracic Surgeons Congenital Heart Surgery Database is the largest congenital and pediatric cardiac surgical clinical data registry in the world. It is the platform for all activities of The Society of Thoracic Surgeons related to the analysis of outcomes and the improvement of quality in this subspecialty. This article summarizes current aggregate national outcomes in congenital and pediatric cardiac surgery and reviews related activities in the areas of quality measurement, performance improvement, and transparency. The reported data about aggregate national outcomes are exemplified by an analysis of 10 benchmark operations performed from January 2011 to December 2014 and documenting overall discharge mortality (interquartile range among programs with more than 9 cases): off-bypass coarctation, 1.0% (0.0% to 0.9%); ventricular septal defect repair, 0.7% (0.0% to 1.1%); tetralogy of Fallot repair, 1.0% (0.0% to 1.7%); complete atrioventricular canal repair, 3.2% (0.0% to 6.5%); arterial switch operation, 2.7% (0.0% to 5.6%); arterial switch operation plus ventricular septal defect, 5.3% (0.0% to 6.7%); Glenn/hemiFontan, 2.1% (0.0% to 3.8%); Fontan operation, 1.4% (0.0% to 2.4%); truncus arteriosus repair, 9.6% (0.0 % to 11.8%); and Norwood procedure, 15.6% (10.0% to 21.4%). PMID:26897186

  1. 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

  2. New aspects of anesthetic management in congenital heart disease “common arterial trunk”

    PubMed Central

    Ziyaeifard, Mohsen; Azarfarin, Rasoul; Ferasatkish, Rasoul

    2014-01-01

    Now-a-days truncus arteriosus has been known as “common arterial trunk” (CAT) and is an uncommon congenital cardiac defect presenting in about 1-3% congenital heart disease. Environmental and genetic factors effects on incidence of CAT and other conotruncal anomalies. The majority patients with CAT and 22q11 deletion have other anomalies such as hypoplasia or aplasia of the thymus or parathyroid glands and immune deficits (T-cell deficiency), calcium metabolism disorder (hypocalcemia), palatal defects, learning and speech disorder, craniofacial anomalies, and neuropsychological abnormalities. CAT without surgical treatment frequently involves early severe pulmonary arterial hypertension (PAH) or early death from heart failure and associated conditions. Therefore, without corrective surgical repair, most CAT patients die in the initial years of life. In numerous centers early surgical repair associated with superior than 80% long-standing survival. Anesthesiologist must be performs comprehensive preoperative evaluation of infants or neonates with this disorder. In CAT patient exactly hemodynamic monitoring and suitable techniques to regulate pulmonary vascular resistance and systemic vascular resistance and cardiac function are more important than the select of a special anesthetic drug. Therefore, anesthetic drugs should be carefully administrated and titrate and under monitoring. Management of CAT after surgical repair depends on the adequacy of treatment, cardiac function, level of PAH, and degree of bleeding. Inotropic support is frequently necessary after the cardiac ischemia associated to the surgical repair. Pulmonary vasodilator drugs were used to PAH treatment. PMID:25097611

  3. Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease

    PubMed Central

    Werner, Petra; Paluru, Prasuna; Simpson, Anisha M.; Latney, Brande; Iyer, Radhika; Brodeur, Garrett M.; Goldmuntz, Elizabeth

    2014-01-01

    Congenital heart defects (CHDs) are the most common major birth defects and the leading cause of death from congenital malformations. The etiology remains largely unknown, though genetic variants clearly contribute. In a previous study, we identified a large copy number variant (CNV) that deleted 46 genes in a patient with a malalignment type ventricular septal defect (VSD). The CNV included the gene NTRK3 encoding neurotrophic tyrosine kinase receptor C (TrkC), which is essential for normal cardiogenesis in animal models. To evaluate the role of NTRK3 in human CHDs, we studied 467 patients with related heart defects for NTRK3 mutations. We identified four missense mutations in four patients with VSDs that were not found in ethnically matched controls and were predicted to be functionally deleterious. Functional analysis using neuroblastoma cell lines expressing mutant TrkC demonstrated that one of the mutations (c.278C>T, p.T93M) significantly reduced autophosphorylation of TrkC in response to ligand binding, subsequently decreasing phosphorylation of downstream target proteins. In addition compared to WT, three of the four cell lines expressing mutant TrkC showed altered cell growth in low-serum conditions without supplemental NT-3. These findings suggest a novel pathophysiological mechanism involving NTRK3 in the development of VSDs. PMID:25196463

  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. PMID:26184479

  5. 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

  6. 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

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

    PubMed Central

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

    2015-01-01

    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. PMID:25979782

  8. 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. PMID:25979782

  9. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

    PubMed

    Stoll, C; Garne, E; Clementi, M

    2001-04-01

    Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were

  10. 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

  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. 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

  13. 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

  14. 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

  15. [Congenital heart block associated with maternal anti SSA/SSB antibodies :a report of four cases].

    PubMed

    Ayed, K; Gorgi, Y; Sfar, I; Khrouf, M

    2004-04-01

    Congenital heart block (CHB) associated with maternal anti-SSA/SSB antibodies: a report of four cases. CHB detected in utero is strongly associated with maternal antibodies to SSA (Ro) and SSB (La). Their pathogenic role in the development of CHB has been established in several studies. The mothers of affected infants frequently had autoimmune disease (systemic lupus erythematosus, Sjögren's syndrome) or were entirely asymptomatic. It is very difficult to identify pregnant asymptomatic mothers carrying anti-SSA/SSB antibodies. We report four cases of infants born to asymptomatic mothers with anti-SSA/SSB antibodies, three of them developed isolated congenital cardiac heart block and one with no evidence of CHB. All three CHB are detected during pregnancy between 16 and 24 weeks of gestation. All maternal sera contained antibodies to SSA alone or the both SSA and SSB. Three of four subsequent pregnancies were complicated by heart block. One child affected died in utero. While the two other newborns with CHB required pacemaker insertion during the first 3 months of life. Although the association of anti-SSA/SSB with CHB is widely accepted, the precise mechanism by which these antibodies cause cardiac conduction abnormalities remains to be defined. Antibodies to SSA/SSB have been proposed to be a serologic marker for neonatal lupus syndrome and CHB. Fetal and neonatal diseases are presumed to be due to the transplacental passage of these IgG autoantibodies from the mother into the fetal circulation. Since these antibodies may have a pathogenic role in CHB, screening of infants with isolated CHB or neonatal lupus and their mothers for the presence of anti-SSA and anti-SSB is strongly recommended. PMID:15063933

  16. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

    PubMed Central

    Tennstedt, C; Chaoui, R; Korner, H; Dietel, M

    1999-01-01

    OBJECTIVE—To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy.
MATERIAL—Necropsies were performed on 815 fetuses—448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)—during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed.
RESULTS—Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%).
CONCLUSIONS—Fetal congenital heart malformations are common. These defects are often

  17. Congenital heart disease and the specification of left-right asymmetry

    PubMed Central

    Francis, Richard J. B.; Christopher, Adam; Devine, William A.; Ostrowski, Lawrence

    2012-01-01

    Complex congenital heart disease (CHD) is often seen in conjunction with heterotaxy, the randomization of left-right visceral organ situs. However, the link between cardiovascular morphogenesis and left-right patterning is not well understood. To elucidate the role of left-right patterning in cardiovascular development, we examined situs anomalies and CHD in mice with a loss of function allele of Dnaic1, a dynein protein required for motile cilia function and left-right patterning. Dnaic1 mutants were found to have nodal cilia required for left-right patterning, but they were immotile. Half the mutants had concordant organ situs comprising situs solitus or mirror symmetric situs inversus. The remaining half had randomized organ situs or heterotaxy. Looping of the heart tube, the first anatomical lateralization, showed abnormal L-loop bias rather than the expected D-loop orientation in heterotaxy and nonheterotaxy mutants. Situs solitus/inversus mutants were viable with mild or no defects consisting of azygos continuation and/or ventricular septal defects, whereas all heterotaxy mutants had complex CHD. In heterotaxy mutants, but not situs solitus/inversus mutants, the morphological left ventricle was thin and often associated with a hypoplastic transverse aortic arch. Thus, in conclusion, Dnaic1 mutants can achieve situs solitus or inversus even with immotile nodal cilia. However, the finding of abnormal L-loop bias in heterotaxy and nonheterotaxy mutants would suggest motile cilia are required for normal heart looping. Based on these findings, we propose motile nodal cilia patterns heart looping but heart and visceral organ lateralization is driven by signaling not requiring nodal cilia motility. PMID:22408017

  18. 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.

  19. Surgical strategies for patients with congenital heart disease and severe pulmonary hypertension in low/middle-income countries

    PubMed Central

    Talwar, Sachin; Keshri, Vikas Kumar; Choudhary, Shiv Kumar; Gupta, Saurabh Kumar; Ramakrishnan, Sivasubramanian; Juneja, Rajnish; Saxena, Anita; Kothari, Shyam Sunder; Airan, Balram

    2015-01-01

    In this review, we discuss specific surgical strategies that are used in patients with congenital heart disease and severe pulmonary arterial hypertension. Our own experience, with the use of unidirectional valved patches in managing these patients, is also discussed in detail. PMID:27326218

  20. 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…

  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. 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

  3. Lesion-Specific Factors Contributing to Inhospital Costs in Adults With Congenital Heart Disease.

    PubMed

    Cedars, Ari M; Burns, Sara; Novak, Eric L; Amin, Amit P

    2016-06-01

    The population of adults with congenital heart disease (ACHD) in the United States is growing rapidly with concomitant increases in care costs. We sought to define the variables having the greatest influence on annual cost of inpatient care in patients with ACHD in the United States. To do so, we conducted a retrospective analysis of admissions in patients >18 years old with a 3-digit International Classification of Disease, Ninth Revision, code of 745 to 747 from the State Inpatient Databases of Arkansas (2008 to 2010), California (2003 to 2012), Florida (2005 to 2012), Hawaii (2006 to 2010), Nebraska (2003 to 2011), and New York (2005 to 2012). We selected variables we believed would have the greatest effect on care costs and built a series of multivariable regression models grouping patients by congenital lesion to examine the relative contribution of the specified variables to total annual inpatient cost. We analyzed a total of 68,314 patients aged 57 ± 18.6 years, 51% of whom were women. The multivariable regression model had an overall R(2) of 0.35. Readmission was responsible for 10.3% of annual inpatient cost among all patients with ACHD and had the greatest effect on inpatient care cost for each congenital lesion except Eisenmenger syndrome and conotruncal abnormalities, for both of which it was the second most significant contributor. Other major contributors to annual inpatient care costs included length of stay and operative procedures. In conclusion, rehospitalization is the most significant contributor to annual inpatient cost for individual patients with ACHD in the United States, regardless of underlying anatomy. PMID:27079214

  4. 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

  5. [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%. PMID:22523843

  6. 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

  7. Factors Influencing Adaptation and Performance at Physical Exercise in Complex Congenital Heart Diseases after Surgical Repair

    PubMed Central

    Bassareo, P. P.; Saba, L.; Solla, P.; Barbanti, C.; Marras, A. R.; Mercuro, G.

    2014-01-01

    In the last thirty years, steady progress in the diagnostic tools and care of subjects affected by congenital heart diseases (CHD) has resulted in a significant increase in their survival to adulthood, even for those affected by complex CHD. Based on these premises, a number of teenagers and adults affected by corrected (surgically or through interventional techniques) CHD ask to be allowed to undertake sporting activities, both at a recreational and competitive level. The purpose of this review is to examine the mechanisms influencing the adaption at physical exercise of patients suffering from complex CHD. The conclusion is that even if there are some modest risks with exercise, they should be seen in perspective, and the life-long benefits of regular exercise on general health, mood, and well-being should be emphasized. PMID:24822218

  8. 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. PMID:27090652

  9. 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.

  10. 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

  11. 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

  12. Pulmonary hypertension in infants with congenital heart defects: are leukotrienes involved?

    PubMed Central

    Serraf, A.; Gascard, J-P.; Bruniaux, J.; Labat, C.; Planche, C.

    1997-01-01

    The circulating levels of leukotriene E4 in infants with congenital heart defects, increased pulmonary blood flow and pulmonary arterial hypertension, were determined and compared with infants with decreased pulmonary blood flow (Tetralogy of Fallot). There was no correlation (r=0.38) between the pulmonary arterial pressure (56 ± 4 mmHg) and the leukotriene E4 levels (1.37 ± 0.67 ng/ml blood) measured in peripheral blood samples from the hypertensive group prior to surgery. There was considerable variation in the detectable leukotriene E4 levels in blood samples from different patients. The levels detected in the blood samples between the two groups of patients was similar. These data suggest that neither the surgical repair during cardiopulmonary bypass nor the pulmonary hypertension appeared to modify the leukotriene E4 blood levels in the small number of patients studied. PMID:18472866

  13. Techniques for transcatheter recanalization of completely occluded vessels and pathways in patients with congenital heart disease

    PubMed Central

    Latson, Larry A; Qureshi, Athar M

    2010-01-01

    Occlusions of major vessels in patients with congenital heart disease may occur due to a variety of factors. These occlusions are often felt to be best addressed surgically; however, we and others have been successful in recanalizing most of these vessels in the catheterization laboratory. Most of these patients will require multiple procedures in the catheterization laboratory to ensure vessel patency and to facilitate vessel growth. Physicians performing the procedure should have a thorough understanding of the anatomic considerations for the intended procedure and have access to a variety of devices and equipment to optimize the result of the procedure. In this article, we review some of the technical aspects that are vital for the success of the procedure. PMID:21234193

  14. 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

  15. 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 ...

  16. Environmental Risk Factors for Congenital Heart Disease in the Shandong Peninsula, China: A Hospital-based Case–Control Study

    PubMed Central

    Liu, Shiwei; Liu, Junxiu; Tang, Ji; Ji, Jiafen; Chen, Jingwu; Liu, Changyun

    2009-01-01

    Background In China, and in Shandong province, the proportionate contribution of birth defects to infant mortality has increased, and congenital heart disease (CHD) is now the most common cause of birth defects. The cause of approximately 90% of cases of congenital heart disease is multifactorial. Little is known about modifiable environmental risk factors or regional differences. We investigated putative environmental risk factors for congenital heart disease in the Shandong province of China in order to improve prevention of CHD. Methods We conducted a hospital-based 1:2 matched case–control study of 164 patients with congenital heart diseases and 328 controls, all of whom were retrospectively interviewed. Univariate and multivariate analyses were conducted to identify environmental risk factors for CHD. Results The environmental risk factors associated with CHD were mother’s education level (odds ratio [OR], 0.31; 95% confidence interval [CI], 0.15–0.67), neonatal asphyxia or hypoxia (OR, 3.74; 95% CI, 1.25–11.18), number of previous pregnancies (OR, 2.68; 95% CI, 1.44–4.97), maternal upper respiratory tract infection (OR, 4.12; 95% CI, 1.56–10.85), maternal infection (OR, 7.98; 95% CI, 2.14–29.72), maternal B-mode ultrasound examination (OR, 4.05; 95% CI, 1.48–11.08), and maternal mental stress (OR, 3.93; 95% CI, 1.94–7.94) during early pregnancy. No significant interactions were observed among these factors. Conclusions Augmenting maternal mental healthcare, obtaining regular health counseling and testing during pregnancy, preventing upper respiratory tract infections, limiting medication during early pregnancy, offering health promotion and health education to women of childbearing age (especially those with less formal education), and improving obstetric procedures and techniques may lower the occurrence of congenital heart disease. PMID:19398851

  17. 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

  18. Health Care Costs for Adults With Congenital Heart Disease in the United States 2002 to 2012.

    PubMed

    Briston, David A; Bradley, Elisa A; Sabanayagam, Aarthi; Zaidi, Ali N

    2016-08-15

    More adults than children with congenital heart disease (CHD) are alive today. Few studies have evaluated adult congenital heart disease (ACHD) health care utilization in the United States. Data from the National Inpatient Sample from 2002 to 2012, using International Classification of Diseases, Ninth Revision, codes for moderate and complex CHD were analyzed. Hospital discharges, total billed and reimbursed amounts, length of stay, and gender/age disparities were evaluated. There was an increase in CHD discharges (moderate CHD: 4,742 vs 6,545; severe CHD: 807 vs 1,115) and total billed and reimbursed dollar amounts across all CHD (billed: $2.7 vs $7.0 billion, 155% increase; reimbursed: $1.3 vs $2.3 billion, 99% increase) and in the ACHD subgroup (billed: $543 million vs $1.5 billion, 178% increase; reimbursed: $221 vs $433 million, 95% increase). Women comprised more discharges in 2002 but not in 2012 (men:women, 2002: 6,503 vs 7,805; 2012: 7,715 vs 7,200, p = 0.39). Gender-based billed amounts followed similar trends (2002: $263 vs $280 million; 2012: $845 vs $662 million, p = 0.006) as did reimbursements (2002: $108 vs $114 million; 2012: $243 vs $190 million, p = 0.008). All age subgroups demonstrated increased health care expenditures, including the >44 versus 18- to 44-year-old age subgroup (billed: $618 vs $347 million, p <0.001; reimbursed: $136 vs $75 million, p <0.001). Our results reveal increased ACHD billed and reimbursed amounts and hospital discharges with a shift in gender-based ACHD hospitalizations: men now account for more hospitalizations in the United States. In conclusion, increased health care expenditure in older patients with ACHD is likely to increase further as health care system use and costs continue to grow. PMID:27476099

  19. Neurodevelopment at 1 year of age in infants with congenital heart disease

    PubMed Central

    Dittrich, H; Bührer, C; Grimmer, I; Dittrich, S; Abdul-Khaliq, H; Lange, P E

    2003-01-01

    Objective: To assess psychomotor development and neurological sequelae in infants after surgery for congenital heart defects. Design and setting: Single institution prospective cohort study. Patients: 90 of 112 consecutive surviving infants of less than 1 year of age, without brain anomalies, conditions, or syndromes associated with delayed mental development, who underwent cardiac surgery during an 18 month period; 20 control infants with minor or no congenital heart defects. Main outcome measures: Griffiths developmental scales and standardised neurological examination at 1 year. Results: Mean (SD) developmental quotient (DQ) in index infants was 99 (10.6), compared with 106.7 (6.6) in controls (p < 0.001). DQ was lower in infants after palliative surgery (n = 16; 88 (12.2)) than after corrective surgery (n = 74; 101.4 (8.6)) (p < 0.001). Of the 90 index infants, 24 (27%) had a DQ below 93.5 (more than 2 SD below the mean of controls). Developmental delay (DQ < 93.5) was more common after palliative surgery (10/16, 63%) than after corrective surgery (14/74, 19%) (p < 0.001). Of the 90 index infants, 29 (32%) had neurological abnormalities, compared with only one of the 20 controls (5%) (p = 0.013). Neurological abnormalities were more frequent after palliative surgery (11/16, 69%) than after corrective surgery (18/74, 24%) (p < 0.001). Conclusions: There is a considerable rate of neurodevelopmental impairment at 1 year of age in infants after cardiac surgery. Psychomotor impairment and neurological sequelae are apparently more severe in infants in whom only palliative surgery is possible. PMID:12639876

  20. Paternal Age and Offspring Congenital Heart Defects: A National Cohort Study

    PubMed Central

    Huang, Guo Ying; Olsen, Jørn; Li, Jiong

    2015-01-01

    Paternal age has been associated with offspring congenital heart defects (CHDs), which might be caused by increased mutations in the germ cell line because of cumulated cell replications. Empirical evidences, however, remain inconclusive. Furthermore, it is unknown whether all subtypes of CHDs are affected by paternal age. We aimed to explore the relationship between paternal age and the risk of offspring CHDs and its five common subtypes using national register data in Denmark. A total of 1 893 899 singletons born in Denmark from 1977 to 2008 were included in this national-based cohort study. Cox’s proportion hazards model with robust sandwich estimate option was used to estimate the hazards ratio (95% confidence interval) for the associations between paternal age and all CHDs, as well as subtypes of CHDs (patent ductus arteriosus (PDA), ventricular septal defect (VSD), atrial septal defect (ASD), tetralogy of fallot (TOF) and coarctation of the aorta (CoA)). We did not observe an overall association between paternal age and offspring CHDs. However, compared to the paternal age of 25–29 years, paternal age of older than 45 years was associated with a 69% increased risk of PDA (HR45+ = 1.69, 95%CI:1.17–2.43). We observed similar results when subanalyses were restricted to children born to mothers of 27–30 years old. After taking into consideration of maternal age, our data suggested that advanced paternal age was associated with an increased prevalence of one subtype of offspring congenital heart defects (CHDs), namely patent ductus arteriosus (PDA). PMID:25806788

  1. Immunologic Aging in Adults with Congenital Heart Disease: Does Infant Sternotomy Matter?

    PubMed

    Elder, Robert W; George, Roshan P; McCabe, Nancy M; Rodriguez Iii, Fred H; Book, Wendy M; Mahle, William T; Kirk, Allan D

    2015-10-01

    Thymectomy is performed routinely in infants undergoing cardiothoracic surgery. Children post-sternotomy have decreased numbers of T lymphocytes, although the mechanisms involved and long-term consequences of this have not been defined. We hypothesized that lymphopenia in patients with adult congenital heart disease (ACHD) would be reflective of premature T cell maturation and exhaustion. Adults with ACHD who had sternotomy to repair congenital heart disease as infants (<1 year) and age-matched ACHD patients without prior sternotomy were studied using polychromatic flow cytometry interrogating markers of lymphocyte maturation, exhaustion and senescence. Group differences were analyzed using Mann-Whitney U and Fisher's exact tests. Eighteen ACHD patients aged 21-40 years participated: 10 cases and 8 controls. Median age at sternotomy for cases was 52 days. Cases and controls were matched for age (28.9 vs. 29.1 years; p = 0.83), gender (p = 0.15) and race (p = 0.62) and had similar case complexity. Cases had a lower mean percentage of cytotoxic CD8 lymphocytes compared to controls (26.8 vs. 33.9 %; p = 0.016), with fewer naive, undifferentiated CD8 T cells (31.0 vs. 53.6 %; p = 0.027). CD8 cells expressing PD1, a marker of immune exhaustion, trended higher in cases versus controls (25.6 vs. 19.0 %; p = 0.083). Mean percentage of CD4 cells was higher in cases versus controls (65.6 vs. 59.6 %; p = 0.027), without differences in CD4 T cell maturation subtype. In summary, ACHD patients who undergo sternotomy as infants exhibit differences in T lymphocyte composition compared to ACHD controls, suggesting accelerated immunologic exhaustion. Investigation is warranted to assess the progressive nature and clinical impact of this immune phenotypic change. PMID:25916315

  2. Results From the New Jersey Statewide Critical Congenital Heart Defects Screening Program

    PubMed Central

    Garg, Lorraine F.; Van Naarden Braun, Kim; Knapp, Mary M.; Anderson, Terry M.; Koppel, Robert I.; Hirsch, Daniel; Beres, Leslie M.; Hyg, MS; Sweatlock, Joseph; Olney, Richard S.; Glidewell, Jill; Hinton, Cynthia F.; Kemper, Alex R.

    2015-01-01

    BACKGROUND AND OBJECTIVE New Jersey was the first state to implement legislatively mandated newborn pulse oximetry screening (POxS) in all licensed birthing facilities to detect critical congenital heart defects (CCHDs). The objective of this report was to evaluate implementation of New Jersey’s statewide POxS mandate. METHODS A 2-pronged approach was used to collect data on infants screened in all New Jersey birthing facilities from August 31, 2011, through May 31, 2012. Aggregate screening results were submitted by each birthing facility. Data on failed screens and clinical characteristics of those newborns were reported to the New Jersey Birth Defects Registry (NJBDR). Three indicators were used to distinguish the added value of mandated POxS from standard clinical care: prenatal congenital heart defect diagnosis, cardiology consultation or echocardiogram indicated or performed before PoxS, or clinical findings at the time of POxS warranting a pulse oximetry measurement. RESULTS Of 75 324 live births in licensed New Jersey birthing facilities, 73 320 were eligible for screening, of which 99% were screened. Forty-nine infants with failed POxS were reported to the NJBDR, 30 of whom had diagnostic evaluations solely attributable to the mandated screening. Three of the 30 infants had previously unsuspected CCHDs and 17 had other diagnoses or non-CCHD echocardiogram findings. CONCLUSIONS In the first 9 months after implementation, New Jersey achieved a high statewide screening rate and established surveillance mechanisms to evaluate the unique contribution of POxS. The screening mandate identified 3 infants with previously unsuspected CCHDs that otherwise might have resulted in significant morbidity and mortality and also identified other significant secondary targets such as sepsis and pneumonia. PMID:23858425

  3. Propofol effect on cerebral oxygenation in children with congenital heart disease.

    PubMed

    Fleck, Thilo; Schubert, Stephan; Ewert, Peter; Stiller, Brigitte; Nagdyman, Nicole; Berger, Felix

    2015-03-01

    Propofol is a short-acting, intravenously administered hypnotic agent which is used in procedural sedation in children. Propofol is known to decrease systemic vascular resistance, arterial blood pressure and can lead to desaturations and decreased systemic perfusion in children with cardiac shunting. This may result in a reduction in cerebral blood flow and oxygenation. Near-infrared spectroscopy (NIRS) can monitor cerebral tissue oxygenation in the frontal neocortex. The objective of our study was to measure the changes in cerebral oxygen and blood supply after Propofol infusion in children with congenital heart disease. Propofol infusion may reduce cerebral oxygenation in children with congenital heart disease. The study group consisted of 32 children (f:m = 18:14), with median age of 49 (5-112) months and median weight of 15 (5-34) kg. We performed NIRS derived continuous measurement of cerebral oxygenation and cardiac output using Electrical velocimetry for 5 min before and after sedation with Propofol (1-2 mg/kg i.v.) for cardiac catheterization. Simultaneously, non-invasive arterial blood pressure and transcutaneous oxygen saturation were measured. Propofol sedation led to a significant decrease in mean arterial pressure (79 ± 16 vs. 67 ± 12 mmHg) (p = 0.01) and cardiac index (3.2 ± 0.8 vs. 2.9 ± 0.6 ml/min/m(2)) (p = 0.03). In contrast, cerebral tissue oxygenation index, increased significantly from 57 ± 11 to 59 ± 10 % (p < 0.05). Sedation with Propofol increased cerebral tissue oxygenation despite a decrease in cardiac index and arterial blood pressure. This may be caused by a decreased oxygen consumption of the sedated brain with intact cerebral auto-regulation. PMID:25311762

  4. 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.

  5. 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

  6. Mice Carrying a Hypomorphic Evi1 Allele Are Embryonic Viable but Exhibit Severe Congenital Heart Defects

    PubMed Central

    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 Evi1fl3) 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. Evi1δex3/δex3 mutant embryos showed only a mild non-lethal hematopoietic phenotype and bone marrow failure was only observed in adult Vav-iCre/+, Evi1fl3/fl3 mice in which exon 3 was specifically deleted in the hematopoietic system. Evi1δex3/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 Evi1δex3/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

  7. Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

    PubMed Central

    Sabry, M A; al-Saleh, Q; al-Saw'an, R; al-Awadi, S A; Farag, T I

    1995-01-01

    A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed. Images PMID:7562971

  8. N-Acetylcysteine prevents congenital heart defects induced by pregestational diabetes

    PubMed Central

    2014-01-01

    Background Pregestational diabetes is a major risk factor of congenital heart defects (CHDs). Glutathione is depleted and reactive oxygen species (ROS) production is elevated in diabetes. In the present study, we aimed to examine whether treatment with N-acetylcysteine (NAC), which increases glutathione synthesis and inhibits ROS production, prevents CHDs induced by pregestational diabetes. Methods Female mice were treated with streptozotocin (STZ) to induce pregestational diabetes prior to breeding with normal males to produce offspring. Some diabetic mice were treated with N-acetylcysteine (NAC) in drinking water from E0.5 to the end of gestation or harvesting of the embryos. CHDs were identified by histology. ROS levels, cell proliferation and gene expression in the fetal heart were analyzed. Results Our data show that pregestational diabetes resulted in CHDs in 58% of the offspring, including ventricular septal defect (VSD), atrial septal defect (ASD), atrioventricular septal defects (AVSD), transposition of great arteries (TGA), double outlet right ventricle (DORV) and tetralogy of Fallot (TOF). Treatment with NAC in drinking water in pregestational diabetic mice completely eliminated the incidence of AVSD, TGA, TOF and significantly diminished the incidence of ASD and VSD. Furthermore, pregestational diabetes increased ROS, impaired cell proliferation, and altered Gata4, Gata5 and Vegf-a expression in the fetal heart of diabetic offspring, which were all prevented by NAC treatment. Conclusions Treatment with NAC increases GSH levels, decreases ROS levels in the fetal heart and prevents the development of CHDs in the offspring of pregestational diabetes. Our study suggests that NAC may have therapeutic potential in the prevention of CHDs induced by pregestational diabetes. PMID:24533448

  9. A contemporary assessment of the risk for sudden cardiac death in patients with congenital heart disease.

    PubMed

    Silka, Michael J; Bar-Cohen, Yaniv

    2012-03-01

    Assessment of the risk for sudden cardiac death (SCD) after surgery for congenital heart disease (CHD) remains a difficult challenge. In the study of this problem, the focus has evolved from concern regarding late-onset heart block to a subsequent focus on ventricular and reentrant atrial arrhythmias, with the most recent emphasis on ventricular dysfunction and heart failure. Sudden cardiac death in CHD patients has been studied most extensively in tetralogy of Fallot. More than 30 risk factors have been proposed, with age at repair, QRS duration, right ventricular enlargement, and left ventricular dysfunction considered the most predictive risk factors. Additionally, SCD has been studied in patients with atrial repair for transposition of the great arteries, left heart obstructive lesions, and to a limited extent, patients with univentricular physiology. This review discusses current risk factors for SCD in CHD and the limited positive predictive value of any individual factor. The emphasis is on contemporary patients with CHD, who differ markedly from those who had repair of CHD decades earlier. This is characterized by complete repairs during the neonatal period, improved physiologic outcomes, and extended survival of patients with complex forms of CHD. Therefore, earlier data and conclusions may not be relevant to newer generations of patients with CHD. According to current perspectives, systemic ventricular dysfunction becomes a major risk factor beyond the age of 20 years. The first symptomatic arrhythmia may result in SCD, and defibrillators are increasingly implanted despite the lack of risk stratification criteria. The large number of potential risk factors and therapeutic options, in contrast to the low incidence of actual events, results in a difficult clinical challenge in the assessment of the risk for SCD in the individual patient with CHD. PMID:22311569

  10. No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.

    PubMed

    Winberg, Johanna; Berggren, Håkan; Malm, Torsten; Johansson, Sune; Johansson Ramgren, Jens; Nilsson, Boris; Liedén, Agne; Nordenskjöld, Agneta; Gustavsson, Peter; Nordgren, Ann

    2015-03-01

    The aim of this study was to investigate if pathogenic copy number variations (CNVs) are present in mosaic form in patients with congenital heart malformations. We have collected cardiac tissue and blood samples from 23 patients with congenital heart malformations that underwent cardiac surgery and screened for mosaic gene dose alterations restricted to cardiac tissue using array comparative genomic hybridization (array CGH). We did not find evidence of CNVs in mosaic form after array CGH analysis. Pathogenic CNVs that were present in both cardiac tissue and blood were detected in 2/23 patients (9%), and in addition we found several constitutional CNVs of unclear clinical significance. This is the first study investigating mosaicism for CNVs in heart tissue compared to peripheral blood and the results do not indicate that pathogenic mosaic copy number changes are common in patients with heart malformations. Importantly, in line with previous studies, our results show that constitutional pathogenic CNVs are important factors contributing to congenital heart malformations. PMID:25652018

  11. 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

  12. Four-dimensional echocardiography with spatiotemporal image correlation and inversion mode for detection of congenital heart disease.

    PubMed

    Qin, Yue; Zhang, Ying; Zhou, Xiaohang; Wang, Yu; Sun, Wei; Chen, Lizhu; Zhao, Dan; Zhan, Ying; Cai, Ailu

    2014-07-01

    The aim of this study was to evaluate the use of 4-D echocardiography with inversion mode and spatiotemporal image correlation (IM-STIC) in the detection of normal and abnormal fetal hearts. We retrospectively studied 112 normal fetuses and 16 fetuses with a confirmed diagnosis of congenital heart disease. Two volumes were acquired from each of the fetuses using transverse and sagittal sweeps. Volumes were reconstructed with IM-STIC. In normal fetuses, IM-STIC facilitated visualization of the interior structures of the fetal heart and great vessels. The visualization rates of intended planes obtained from IM-STIC 4D data ranged from 55% to 100%. In 16 fetuses with congenital heart disease, IM-STIC was able to display the cardiac malformations using digital casting. Some of the malformations were suspected during pre-natal 2-D echocardiography, and their pre-natal IM-STIC diagnoses were confirmed by post-natal echocardiography, surgery and/or autopsy. Hence, 4-D IM-STIC allows better visualization of complex congenital heart disease and should be considered a very useful addition to 2-D echocardiography. PMID:24785438

  13. Novel materials and devices in the transcatheter management of congenital heart diseases - the future comes slowly (part 1).

    PubMed

    Sizarov, Aleksander; Boudjemline, Younes

    2016-04-01

    Management of congenital defects of the heart and great vessels constitutes the largest part of paediatric cardiology practice. Most of these defects require interventions, either corrective or palliative, to guarantee patient survival, symptom relief and/or better quality of life. Interventions can be performed either surgically or transcatheter percutaneously. The surgical repairs are invasive, with long-term results often being suboptimal for complex lesions and after the use of grafts, especially in small patients. Nowadays, various transcatheter devices allow much less invasive percutaneous management in some carefully selected patients with congenital heart disease. However, the currently available materials and devices are only suitable for a small proportion of children, while the majority of young patients with cardiac defects still need surgery, as no transcatheter alternatives exist. There are, however, numerous new biomaterials, devices and technologies that have the potential to expand the transcatheter approach to a much broader spectrum of congenital cardiovascular lesions and conditions. In this three-part review, we describe new advances in transcatheter devices and materials, which promise to extend the application of the percutaneous approach to younger and more complex patient groups with congenital heart disease. The first part focuses on new possibilities for the transcatheter treatment of vascular stenoses in growing patients and the closure of intracardiac defects. PMID:26898634

  14. 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

  15. Evolving hybrid approaches: the preservation of the 'neglected' pulmonary valve function in patients with congenital heart disease.

    PubMed

    Vida, Vladimiro L; Bacha, Emile; Stellin, Giovanni

    2016-07-01

    The involvement of the hemodynamic expertise in the operating room led to the development of new strategies aimed to improve both early and long-term outcome of patients with congenital heart disease. During the last decade, with the aim of preserving the pulmonary valve function, we embarked on a new surgical approach, which combines surgical and interventional techniques, which are performed in the operating room. We believe that the preservation of the pulmonary valve function can be extended to any patients with classic tetralogy of Fallot and other selected patients with congenital pulmonary valve hypoplasia and dysfunction. PMID:26950198

  16. Hospital Costs and Inpatient Mortality among Children Undergoing Surgery for Congenital Heart Disease

    PubMed Central

    Romley, John A; Chen, Alex Y; Goldman, Dana P; Williams, Roberta

    2014-01-01

    Objective To determine the association between hospital costs and risk-adjusted inpatient mortality among children undergoing surgery for congenital heart disease (CHD) in U.S. acute-care hospitals. Data Sources/Study Settings Retrospective cohort study of 35,446 children in 2003, 2006, and 2009 Kids' Inpatient Database (KID). Study Design Cross-sectional logistic regression of risk-adjusted inpatient mortality and hospital costs, adjusting for a variety of patient-, hospital-, and community-level confounders. Data Collection/Extraction Methods We identified relevant discharges in the KID using the AHRQ Pediatric Quality Indicator for pediatric heart surgery mortality, and linked these records to hospital characteristics from American Hospital Association Surveys and community characteristics from the Census. Principal Findings Children undergoing CHD surgery in higher cost hospitals had lower risk-adjusted inpatient mortality (p = .002). An increase from the 25th percentile of treatment costs to the 75th percentile was associated with a 13.6 percent reduction in risk-adjusted mortality. Conclusions Greater hospital costs are associated with lower risk-adjusted inpatient mortality for children undergoing CHD surgery. The specific mechanisms by which greater costs improve mortality merit further exploration. PMID:24138064

  17. Voxelwise atlas rating for computer assisted diagnosis: Application to congenital heart diseases of the great arteries

    PubMed Central

    Zuluaga, Maria A.; Burgos, Ninon; Mendelson, Alex F.; Taylor, Andrew M.; Ourselin, Sébastien

    2015-01-01

    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. PMID:26433929

  18. 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

  19. An empowerment health education program for children undergoing surgery for congenital heart diseases.

    PubMed

    Ni, Zhihong; Chao, Yannfen; Xue, Xiaoling

    2016-09-01

    Since the surgery for congenital heart disease (CHD) is considered highly risky, appropriate postoperative care is crucial. After the surgery, children are often discharged with unhealed wounds, incomplete recovery, and continuing pain. Health education programs based on empowerment education model can assist clients to develop skills in self-management. This study aimed to evaluate the effectiveness of an empowerment health education program for improving caregiving knowledge, caring behaviors, and self-efficacy of parents caring for children after corrective surgery for CHD. This prospective clinical trial enrolled pediatric patients undergoing surgical correction for CHD. Patients were divided into two groups: the control group (n = 42), which received the standard education program, and the intervention group (n = 44), which participated in the empowerment theory-based education program. We collected data on left ventricular ejection fraction (LVEF); peripheral oxygen saturation (SpO2); New York Heart Association classification of the patients; and the parents' caregiving knowledge, caring behaviors, and self-efficacy before surgery and one month and three months after surgery. At one month and three months after surgery, the intervention group scored higher than the control group in caregiving knowledge, caring behavior, and self-efficacy. By the third month after surgery, the intervention group had significantly higher values of LVEF and SpO2 than the control group. PMID:26105060

  20. 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.

  1. Apheresis in high risk antiphospholipid syndrome pregnancy and autoimmune congenital heart block.

    PubMed

    Ruffatti, Amelia; Favaro, Maria; Brucato, Antonio; Ramoni, Veronique; Facchinetti, Myriam; Tonello, Marta; Del Ross, Teresa; Calligaro, Antonia; Hoxha, Ariela; Grava, Chiara; De Silvestro, Giustina

    2015-12-01

    In the first part a prospective cohort study was reported to evaluate the efficacy and safety of a treatment protocol including plasma exchange (PE) or PE plus intravenous immunoglobulins (IVIG) or immunoadsorption (IA) plus IVIG administered in addition to conventional therapy to 22 pregnant women with high-risk APS. The results indicate that PE or IA treatments administered along with IVIG and conventional antithrombotic therapy could be a valuable and safe therapeutic option in pregnant APS women with triple antiphospholipid antibody positivity along with a history of thrombosis and/or one or more severe pregnancy complications. In the second part the efficacy and safety of PE combined with IVIG and steroids were evaluated for the treatment of 10 patients with autoimmune congenital heart block (CHB) by comparing maternal features, pregnancy outcome and side effects with those of 24 CHB patients treated with steroids only. The patients treated with the combined therapy showed a statistically significant regression of 2nd degree blocks, an increase in heart rate at birth and a significantly lower prevalence of pacing in the first year of life. Moreover, no side effects were observed except for a few steroid-related events. If these results are confirmed by large-scale studies, the apheretic procedures could lead to improved outcomes in the treatment of these devastating diseases. PMID:26626966

  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. PMID:27593162

  3. Multimodality imaging in congenital heart disease-related pulmonary arterial hypertension.

    PubMed

    D'Alto, Michele; Dimopoulos, Konstantinos; Budts, Werner; Diller, Gerhard-Paul; Di Salvo, Giovanni; Dellegrottaglie, Santo; Festa, Pierluigi; Scognamiglio, Giancarlo; Rea, Gaetano; Ait Ali, Lamia; Li, Wei; Gatzoulis, Michael A

    2016-06-15

    Pulmonary arterial hypertension (PAH) in adult patients with congenital heart disease (CHD) is associated with increased morbidity and mortality. The present review aims to discuss the clinical applications of invasive and non-invasive diagnostic modalities and to describe the strengths and weaknesses of each technique. Chest radiograph is an inexpensive investigation providing information on pulmonary arterial and hilar dilatation, pruning of peripheral pulmonary arteries and cardiomegaly. Transthoracic two-dimensional and Doppler echocardiography is the most widely used imaging tool. It provides information on cardiac anatomy and an estimate of haemodynamics and biventricular remodelling and function. In addition, echocardiography is valuable in assessing prognosis and monitoring the efficacy of therapy. Structural and functional changes associated with CHD-PAH, mainly affecting the right ventricle and pulmonary circulation, may represent an ideal target for evaluation with cardiac magnetic resonance. This non-invasive imaging modality has a low biological impact. CT plays an important role for patients with limited echocardiographic windows and those who are unable to undergo MRI (claustrophobia, poor compliance, presence of a pacemaker/implantable cardioverter defibrillator). It is the modality of choice for detailed assessment of pulmonary vessel obstruction or thrombosis. Finally, heart catheterisation remains the gold standard for diagnosing and confirming PAH in patients with CHD and for shunt evaluation. The diagnostic assessment of CHD-PAH requires great expertise and a deep knowledge of both CHD and PAH pathophysiology and should take place in a tertiary centre, where multiple data can be appropriately integrated and applied clinically. PMID:27013702

  4. De novo mutations in histone modifying genes in congenital heart disease

    PubMed Central

    Zaidi, Samir; Choi, Murim; Wakimoto, Hiroko; Ma, Lijiang; Jiang, Jianming; Overton, John D.; Romano-Adesman, Angela; Bjornson, Robert D.; Breitbart, Roger E.; Brown, Kerry K.; Carriero, Nicholas J.; Cheung, Yee Him; Deanfield, John; DePalma, Steve; Fakhro, Khalid A.; Glessner, Joseph; Hakonarson, Hakon; Italia, Michael; Kaltman, Jonathan R.; Kaski, Juan; Kim, Richard; Kline, Jennie K.; Lee, Teresa; Leipzig, Jeremy; Lopez, Alexander; Mane, Shrikant M.; Mitchell, Laura E.; Newburger, Jane W.; Parfenov, Michael; Pe'er, Itsik; Porter, George; Roberts, Amy; Sachidanandam, Ravi; Sanders, Stephan J.; Seiden, Howard S.; State, Mathew W.; Subramanian, Sailakshmi; Tikhonova, Irina R.; Wang, Wei; Warburton, Dorothy; White, Peter S.; Williams, Ismee A.; Zhao, Hongyu; Seidman, Jonathan G.; Brueckner, Martina; Chung, Wendy K.; Gelb, Bruce D.; Goldmuntz, Elizabeth; Seidman, Christine E.; Lifton, Richard P.

    2013-01-01

    Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome sequencing of parent-offspring trios, we compared the incidence of de novo mutations in 362 severe CHD cases and 264 controls. CHD cases showed a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5 for damaging mutations. Similar odds ratios were seen across major classes of severe CHD. We found a marked excess of de novo mutations in genes involved in production, removal or reading of H3K4 methylation (H3K4me), or ubiquitination of H2BK120, which is required for H3K4 methylation2–4. There were also two de novo mutations in SMAD2; SMAD2 signaling in the embryonic left-right organizer induces demethylation of H3K27me5. H3K4me and H3K27me mark `poised' promoters and enhancers that regulate expression of key developmental genes6. These findings implicate de novo point mutations in several hundred genes that collectively contribute to ~10% of severe CHD. PMID:23665959

  5. 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

  6. 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

  7. Maternal Dietary Patterns are Associated With Risk of Neural Tube and Congenital Heart Defects

    PubMed Central

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

    2013-01-01

    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 US 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. PMID:23639938

  8. Changing prevalence of severe congenital heart disease: a population-based study.

    PubMed

    Egbe, Alexander; Uppu, Santosh; Lee, Simon; Ho, Deborah; Srivastava, Shubhika

    2014-10-01

    Although the epidemiology of congenital heart disease (CHD) has been described, the authors believe changes in prenatal factors such as termination of pregnancy for fetal anomaly and prenatal vitamin supplementation have altered the birth prevalence of severe CHD. This population-based study reviewed the Nationwide Inpatient Sample (NIS) database and identified all cases with a severe CHD diagnosis among all live birth entries from 1999 to 2008. A time trend analysis then was performed for specific severe CHD diagnoses stratified by race, socioeconomic status, and geographic location. Overall, severe CHD prevalence was 147.4 per 100,000 live births, with a temporal decrease in prevalence from 168.9 per 100,000 in 1999 to 129.3 per 100,000 in 2008 (p = 0.03). Among the 12 severe CHD diagnoses included in our cohort, the prevalence of truncus arteriosus (p = 0.02), tetralogy of Fallot (p = 0.001), hypoplastic left heart syndrome (p = 0.001), and pulmonary atresia (p = 0.01) decreased significantly during the study period. The observed prevalence trends varied significantly by race (Caucasians), socioeconomic class (upper income quartiles), and geographic location (Northeast and West regions). The study findings showed a temporal decrease in severe CHD prevalence, which varied by race, socioeconomic status, and geographic location. The authors speculated that the observed trend might be due to increased termination of fetuses with prenatally diagnosed CHD. The impact of sociodemographic variables on the observed prevalence trend might be due to differences in access to specialized perinatal care and fetal heart programs or because of variability in termination of pregnancy. PMID:24823884

  9. Prevalence, implication, and determinants of worsening renal function after surgery for congenital heart disease.

    PubMed

    Saiki, Hirofumi; Kuwata, Seiko; Kurishima, Clara; Iwamoto, Yoichi; Ishido, Hirotaka; Masutani, Satoshi; Senzaki, Hideaki

    2016-08-01

    Accumulating data in adults indicate the prognostic importance of worsening renal function (WRF) during treatment of acute heart failure. Venous congestion appears to play a dominant role in WRF; however, data regarding WRF in children with congenital heart disease (CHD) are limited. The present study was conducted to elucidate the prevalence and characteristics of WRF after surgery for CHD in children. We also tested our hypothesis that, similar to adult heart failure, venous congestion is an important determinant of WRF independent of cardiac output in this population. Fifty-five consecutive pediatric patients who underwent cardiovascular surgery for CHD were studied (median age 0.7 years; range 3 days to 17 years). The degree of WRF was assessed by the difference between the maximum levels of postoperative serum creatinine (Cr) and preoperative serum Cr. There was a high prevalence of WRF in the present cohort: an increase in Cr level was observed in 47 patients (85 %) and a Cr increase ≥0.3 mg/dL was seen in 23 (42 %). Importantly, WRF was significantly associated with a worse clinical outcome of a longer stay in the intensive care unit and hospital (both p < 0.05), even after controlling for age and operative factors. In addition, multivariate regression analysis revealed that central venous pressure, rather than cardiac output, was an independent determinant of WRF. Postoperative management to relieve venous congestion may help ameliorate or prevent WRF and thereby improve outcomes in patients with CHD. PMID:26266633

  10. Comparison of diagnostic accuracy of dual-source CT and conventional angiography in detecting congenital heart diseases

    PubMed Central

    Sedaghat, Fariborz; Pouraliakbar, Hamidreza; Motevalli, Marzieh; Karimi, Mohammad Ali; Armand, Sandbad

    2014-01-01

    Summary Background Cardiac dual-source computed tomography (DSCT) is primarily used for coronary arteries. There are limited studies about the application of DSCT for congenital heart diseases. The aim of this study was to determine the diagnostic value of DSCT in the cardiac anomalies. Material/Methods The images of DSCTs and conventional angiographies of 36 patients (21 male; mean age: 8.5 month) with congenital heart diseases were reviewed and the parameters of diagnostic value of these methods were compared. Cardiac surgery was the gold standard. Results A total of 105 cardiac anomalies were diagnosed at surgery. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of DSCT were 98.25%, 97.9%, 98.1%, 99.07%, and 98.2%, respectively. The corresponding values of angiography were 95.04%, 98.7%, 97.8%, 98.1%, and 98%, respectively. Only one atrial septal defect (ASD) and two patent ductus arteriosus (PDA) were missed by DSCT. Angiography missed two ASD and two PDA. DSCT also provided important additional findings (n=35) about the intrathoracic or intraabdominal organs. Conclusions DSCT is a highly accurate diagnostic modality for congenital heart diseases, obviating the need for invasive modalities. Beside its noninvasive nature, the advantage of DSCT over the angiography is its ability to provide detailed anatomical information about the heart, vessels, lungs and intraabdominal organs. PMID:24987488

  11. 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

  12. 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

  13. A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

    PubMed

    Cangul, Hakan; Bas, Veysel N; Saglam, Yaman; Kendall, Michaela; Barrett, Timothy G; Maher, Eamonn R; Aycan, Zehra

    2014-11-01

    Congenital hypothyroidism (CH), one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns. CH is most often caused by defects in thyroid development leading to thyroid dysgenesis. The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH. In this study, we aim to determine the genetic alteration in a case with congenital hypothyroidism and heart defects coming from a consanguineous family. We utilized genetic linkage analysis and direct sequencing to achieve our aim. Our results revealed that the family showed linkage to the TSHR locus, and we detected a homozygous nonsense mutation (R609X) in the case. Apart from other cases with the same mutation, our case had accompanying cardiac malformations. Although cardiac malformations are not uncommon in sporadic congenital hypothyroidism, here, they are reported for the first time with R609X mutation in a familial case. PMID:24945425

  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. Folate Deficiency and Folic Acid Supplementation: The Prevention of Neural-Tube Defects and Congenital Heart Defects

    PubMed Central

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

    2013-01-01

    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”. PMID:24284617

  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. Micro-Economic Impact of Congenital Heart Surgery: Results of a Prospective Study from a Limited-Resource Setting

    PubMed Central

    Paul, Mary; Sudhakar, Abish; Varghese, Anu Alphonse; Haridas, Aareesh Chittulliparamb; Kabali, Conrad

    2015-01-01

    Introduction The microeconomic impact of surgery for congenital heart disease is unexplored, particularly in resource limited environments. We sought to understand the direct and indirect costs related to congenital heart surgery and its impact on Indian households from a family perspective. Methods Baseline and first follow-up data of 644 consecutive children admitted for surgery for congenital heart disease (March 2013 – July 2014) in a tertiary referral hospital in Central Kerala, South India was collected prospectivelyfrom parents through questionnaires using a semi-structured interview schedule. Results The median age was 8.2 months (IQR: 3.0– 36.0 months). Most families belonged to upper middle (43.0%) and lower middle (35.7%) socioeconomic class. Only 3.9% of families had some form of health insurance. The median expense for the admission and surgery was INR 201898 (IQR: 163287–266139) [I$ 11989 (IQR: 9696–15804)], which was 0.93 (IQR: 0.52–1.49) times the annual family income of affected patients. Median loss of man-days was 35 (IQR: 24–50) and job-days was 15 (IQR: 11–24). Surgical risk category and hospital stay duration significantly predicted higher costs. One in two families reported overwhelming to high financial stress during admission period for surgery. Approximately half of the families borrowed money during the follow up period after surgery. Conclusion Surgery for congenital heart disease results in significant financial burden for majority of families studied. Efforts should be directed at further reductions in treatment costs without compromising the quality of care together with generating financial support for affected families. PMID:26110639

  18. [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

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. Variabilities in the mortality-related resource utilisation for congenital heart disease

    PubMed Central

    Danford, David A; Karels, Quentin; Kutty, Shelby

    2016-01-01

    Objective Our objective was to characterise the divergence of effort from outcome in congenital heart disease (CHD) care by measuring mortality-related resource utilisation fraction (MRRUF) for various CHD lesions across institutions of differing volumes. Methods Study design was observational analysis of an administrative database, the Pediatric Health Information System (PHIS). The setting was inpatient; 2004–2013. Patients were ≤21 years old with atrial septal defect (ASD), ventricular septal defect (VSD), tetralogy of Fallot (TOF), hypoplastic left heart syndrome (HLHS) or other single ventricle (SV). There were no interventions but diagnosis, institution (and volume), age, length of hospitalisation, billed charges and deaths were recorded. The main outcome measure was MRRUF, the ratio of investments during hospitalisations ending in fatality to investments during all hospitalisations. Results There were 50 939 admissions, 1711 deaths, 703 383 inpatient days, and $10 182 000 000 billed charges. MRRUF varied widely by diagnosis: highest in HLHS (21%), but present in ASD (2%) and VSD (4%). Highest among the very young, MRRUF also increased in HLHS and SV during adolescence. MRRUF increased with hospitalisation duration. MRRUF had no relation to institutional volume, and was static over the decade studied. Conclusions Even in the modern era we invest heavily in inpatient CHD care that does not produce the desired outcome. Although its magnitude varies by lesion and age, MRRUF is not limited to complex disease in the very young. MRRUF is not decreasing, and is not isolated to high or low volume institutions. PMID:27175289

  7. Technique of percutaneous laser-assisted valve dilatation for valvar atresia in congenital heart disease.

    PubMed Central

    Rosenthal, E; Qureshi, S A; Kakadekar, A P; Anjos, R; Baker, E J; Tynan, M

    1993-01-01

    OBJECTIVE--To investigate the efficacy and safety of transcatheter laser-assisted valve dilatation for atretic valves in children with congenital heart disease. DESIGN--Prospective clinical study. SETTING--Supraregional paediatric cardiology centre. SUBJECTS--Eleven children (aged 1 day-11 years; weight 2.1-35.7 kg) with atresia of pulmonary (10) or tricuspid (one) valve underwent attempted laser-assisted valve dilatation as part of the staged treatment of their cyanotic heart disease. INTERVENTION--After delineating the atretic valve by angiography and/or echocardiography a 0.018 inch "hot tip" laser wire was used to perforate the atretic valve. Subsequently the valve was dilated with conventional balloon dilatation catheters up to the valve annulus diameter. RESULTS--Laser-assisted valve dilatation was successfully accomplished in nine children. In two neonates with pulmonary valve atresia, intact ventricular septum, and coexistent infundibular atresia the procedure resulted in cardiac tamponade: one died immediately and one later at surgery. During a follow up of 1-17 months (mean 11) two infants with pulmonary valve atresia and intact ventricular septum died (one with congestive cardiac failure). The remainder are either well palliated and do not require further procedures (three), or are awaiting further transcatheter or surgical procedures because of associated defects (four). CONCLUSIONS--Laser-assisted valve dilatation is a promising adjunct to surgery in this high risk group of patients. It may avoid surgery in some patients, and may reduce the number of surgical procedures in those requiring staged operations. Images PMID:8343325

  8. Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code

    PubMed Central

    2011-01-01

    Background Classification of the overall spectrum of congenital heart defects (CHD) has always been challenging, in part because of the diversity of the cardiac phenotypes, but also because of the oft-complex associations. The purpose of our study was to establish a comprehensive and easy-to-use classification of CHD for clinical and epidemiological studies based on the long list of the International Paediatric and Congenital Cardiac Code (IPCCC). Methods We coded each individual malformation using six-digit codes from the long list of IPCCC. We then regrouped all lesions into 10 categories and 23 subcategories according to a multi-dimensional approach encompassing anatomic, diagnostic and therapeutic criteria. This anatomic and clinical classification of congenital heart disease (ACC-CHD) was then applied to data acquired from a population-based cohort of patients with CHD in France, made up of 2867 cases (82% live births, 1.8% stillbirths and 16.2% pregnancy terminations). Results The majority of cases (79.5%) could be identified with a single IPCCC code. The category "Heterotaxy, including isomerism and mirror-imagery" was the only one that typically required more than one code for identification of cases. The two largest categories were "ventricular septal defects" (52%) and "anomalies of the outflow tracts and arterial valves" (20% of cases). Conclusion Our proposed classification is not new, but rather a regrouping of the known spectrum of CHD into a manageable number of categories based on anatomic and clinical criteria. The classification is designed to use the code numbers of the long list of IPCCC but can accommodate ICD-10 codes. Its exhaustiveness, simplicity, and anatomic basis make it useful for clinical and epidemiologic studies, including those aimed at assessment of risk factors and outcomes. PMID:21968022

  9. Information following a Diagnosis of Congenital Heart Defect: Experiences among Parents to Prenatally Diagnosed Children

    PubMed Central

    Carlsson, Tommy; Bergman, Gunnar; Melander Marttala, Ulla; Wadensten, Barbro; Mattsson, Elisabet

    2015-01-01

    Background Prenatal screening of pregnant women in Sweden has improved the detection of major congenital heart defects (CHD). The aim was to explore parental experiences and need for information following a prenatal diagnosis of CHD. Methods Semi-structured interviews conducted with six fathers and five mothers to seven prenatally diagnosed children. Data were analyzed through content analysis. Results Three themes and 9 categories emerged. Theme 1, Grasping the facts today while reflecting on the future, containing five categories: Difficulties sorting out information when in emotional chaos; Respectful information regarding termination of pregnancy; Early information is crucial; Understanding the facts regarding the anomaly; Preparing for the future. Theme 2, Personal contact with medical specialists who give honest and trustworthy information is valued, containing two categories: Trust in information received from medical specialists and Truth and honesty is valued. Theme 3, An overwhelming amount of information on the Internet, containing two categories: Difficulties in finding relevant information and Easy to focus on cases with a poor outcome when searching the Internet. Conclusion Early and honest information in line with individual preferences is crucial to support the decisional process regarding whether to continue or terminate the pregnancy. The use of illustrations is recommended, as a complement to oral information, as it increases comprehension and satisfaction with obtained information. Furthermore, the overwhelming amount of information on the Internet calls for compilation of easily accessible and reliable information sources via the Internet. PMID:25692879

  10. 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

  11. Executive function deficits in congenital heart disease: why is intervention important?

    PubMed

    Calderon, Johanna; Bellinger, David C

    2015-10-01

    It is widely recognised that children with congenital heart disease (CHD) are at high risk for neurodevelopmental impairments including attention deficit hyperactivity disorder and autism spectrum disorder symptoms. Executive function impairments are one of the most prominent neurodevelopmental features associated with CHD. These deficits can have widespread debilitating repercussions in children's neurocognitive, behavioural, and psycho-social development. There is a crucial gap in research regarding the efficacy of preventive or treatment strategies for these important cognitive morbidities. Executive functions are complex neurocognitive skills highly amenable to improvement. Evidence-based interventions have shown promising results in other paediatric populations, strongly suggesting that they might also benefit the growing population of children with CHD. In this review, we summarise the available data on executive function impairments in children and adolescents with CHD. We underline the important co-morbidity of executive dysfunction with other cognitive and psychiatric issues in CHD, which raises awareness of the crucial need to prevent or at least mitigate these deficits. Finally, we summarise future avenues for research in terms of interventions that may help reduce executive function impairments in youth with CHD. PMID:26082199

  12. 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

  13. [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. PMID:24441518

  14. Incidence and Etiology of Chylothorax after Congenital Heart Surgery in Children

    PubMed Central

    Akbari Asbagh, Parvin; Navabi Shirazi, Mohammad Ali; Soleimani, Aliakbar; Razzaz, Maryam; Akbari Asbagh, Naseradine; Rayatzadeh, Hussein; Shariat, Mamak

    2014-01-01

    Abstract Background: Chylothorax is a rare but serious postoperative condition with a high rate of morbidity and may lead to the mortality of children undergoing congenital heart disease (CHD) surgery. This study evaluated the specific surgical procedures associated with the higher risk of postoperative chylothorax. Methods: We assessed 435 cases undergoing CHD surgery between April 2003 and May 2006. We detected postoperative chylothorax in 6 patients. The diagnosis of chylothorax was established based on the presence of an odorless fluid with the characteristic milky appearance of the fluid (except when the patients were fasting in the immediate postoperative period), a triglyceride level greater than 110 mg/dL or between 50 and 110 mg/dL with a pleural fluid white cell count greater than 1000, and more than 80% lymphocytes on differential when the pleural fluid was not chylous. Results: Over a 37-month period, 435 (mean age = 51.6 months; 232 males) patients underwent various types of surgical procedures for CHD; 6 patients developed chylothorax after the Fontan operation; one patient died due to severe chylothorax; 3 patients were managed by nutritional modifications, diuretics, and thoracocentesis; and 2 patients required thoracic duct ligation. The Fisher exact test analysis showed a significant association between the Fontan operation and postoperative chylothorax (p value < 0.0001). Conclusion: Our study showed a significant association between the Fontan surgery and chylothorax. PMID:25861320

  15. Pediatric systems medicine: evaluating needs and opportunities using congenital heart block as a case study.

    PubMed

    Tegnér, Jesper; Abugessaisa, Imad

    2013-04-01

    Medicine and pediatrics are changing and health care is moving from being reactive to becoming preventive. Despite rapid developments of new technologies for molecular profiling and systems analysis of diseases, significant hurdles remain. Here, we use the clinical setting of congenital heart block (CHB) to uncover and illustrate key informatics challenges impeding the development of a systems medicine approach emphasizing the prevention and prediction of disease. We find that there is a paucity of useful bioinformatics tools enabling the integrative analysis of different databases of molecular information and clinical sources in a disease context such as CHB, contrasting with the current emphasis on developing bioinformatics tools for the analysis of individual data types. Moreover, informatics solutions for managing data, such as the Integrating Biology and the Bedside (i2b2) or Stanford Translational Research Integrated Database Environment, require serious software engineering support for the maintenance and import of data beyond the capabilities of clinicians working with CHB. Hence, there is an urgent unmet need for user-friendly tools facilitating the integrative analysis and management of omics data and clinical information. Pediatrics represents an untapped potential to execute such a systems medicine program in close collaboration with clinicians and families who are keen to do what is needed for their children to prevent and predict diseases and nurture wellness. PMID:23370412

  16. Cardiovascular diseases in grandparents and the risk of congenital heart diseases in grandchildren.

    PubMed

    Wijnands, K P J; Obermann-Borst, S A; Sijbrands, E J G; Wildhagen, M F; Helbing, W A; Steegers-Theunissen, R P M

    2014-04-01

    Hyperglycemia, dyslipidemia and hyperhomocysteinemia are associated with both adult cardiovascular disease (CVD) and having a child with a congenital heart disease (CHD). We investigated associations between CVD in grandparents and the risk of CHD in grandchildren. In a case-control family study, we obtained detailed questionnaire information on CVD and CHD in 247 families with a CHD child and 203 families without a CHD child. Grandparents with CVD or intermittent claudication (IC) were significantly associated with an increased risk for CHD in grandchildren [OR 1.39 (95% CI 1.03-1.89) and OR 2.77 (95% CI 1.02-7.56), respectively]. The risk of CHD grandchildren was particularly increased in paternal grandfathers with CVD [OR 1.85 (95% CI 1.01-3.37)]. Overall, having a grandparent with CVD increased the risk for CHD in the grandchild by 1.65 (95% CI 1.12-2.41). After adjustment for potential maternal confounders, this risk was 1.44 (95% CI 0.94-2.21). Having two or more grandparents with CVD was associated with an approximately threefold risk for CHD grandchildren [OR adjusted 2.72 (95% CI 1.08-6.89)]. Our data suggest that CVD and IC in grandparents are associated with an increased risk of having a CHD grandchild. These first findings may be explained by shared causality of derangements in metabolic pathways and are in line with the fetal origins of health and disease. PMID:24847701

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

    PubMed Central

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

    2011-01-01

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

  18. 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

  19. 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

  20. Cardiomyocytes in Young Infants With Congenital Heart Disease: a Three-Month Window of Proliferation.

    PubMed

    Ye, Lincai; Qiu, Lisheng; Zhang, Haibo; Chen, Huiwen; Jiang, Chuan; Hong, Haifa; Liu, Jinfen

    2016-01-01

    Perinatal reduction in cardiomyocyte cell cycle activity is well established in animal models and humans. However, cardiomyocyte cell cycle activity in infants with congenital heart disease (CHD) is unknown, and may provide important information to improve treatment. Human right atrial specimens were obtained from infants during routine surgery to repair ventricular septal defects. The specimens were divided into three groups: group A (age 1-3 months); group B (age, 4-6 months); and group C (age 7-12 months). A dramatic fall in the number of Ki67 -positive CHD cardiac myocytes occurred after three months. When cultured in vitro, young CHD myocytes (≤3 months) showed more abundant Ki67-positive cardiomyocytes and greater incorporation of EdU, indicating enhanced proliferation. YAP1 and NICD-important transcript factors in cardiomyocyte development and proliferation-decreased with age and β-catenin increased with age. Compared with those of older infants, cardiomyocytes of young CHD infants (≤3 months) have a higher proliferating capacity in vivo and in vitro. From the perspective of cardiac muscle regeneration, CHD treatment at a younger age (≤3 months) may be more optimal. PMID:26976548

  1. [MORPHO-FUNCTIONAL CHANGES OF THYMUS TISSUES IN CHILDREN WITH CONGENITAL HEART DISEASE].

    PubMed

    Loginova, N P; Chetvertnykh, V A; Chemurziyeva, N V

    2016-01-01

    Biopsy specimens of the thymus were studied in children aged under 11 months (n = 77) with congenital heart defects and circulatory hypoxia of varying severity. Histological sections were stained with hematoxylin-eosin and Shubich's method (to demonstrate mast cells). The expression of Ki-67, CD3 and CD34 was assessed by immunohistochemistry. The ultrastructure of thymic tissues was also examined. It was found that the severity of hypoxia determined the morphological changes in the organ associated with a development of large complex of tissue reactions. A disruption of internal structure and a loss of integrity of epithelio-reticular cells and thymocytes were demonstrated in ultrathin sections. Thymocyte proliferation index (Ki-67) and thymocytopoiesis intensity (CD3+) were reduced in all the zones of the thymus. The degree of hypoxia affected the redistribution of CD3+ lymphocytes leading to their accumulation in the medulla. The processes of endogenous regeneration took place which involved the cells of fibroblastic line and progenitor cells (CD34+) together with active formation of new blood vessels. These findings suggest that the morphological changes identified in the tissues of the thymus are a manifestation of tissue adaptation to hypoxia of varying severity under conditions of endogenous regeneration, simultaneously reflecting the processes of substitution cytogenesis. PMID:27487665

  2. 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

  3. Systematic Tracking of Disrupted Modules Identifies Altered Pathways Associated with Congenital Heart Defects in Down Syndrome

    PubMed Central

    Chen, Denghong; Zhang, Zhenhua; Meng, Yuxiu

    2015-01-01

    Background This work aimed to identify altered pathways in congenital heart defects (CHD) in Down syndrome (DS) by systematically tracking the dysregulated modules of reweighted protein-protein interaction (PPI) networks. Material/Methods We performed systematic identification and comparison of modules across normal and disease conditions by integrating PPI and gene-expression data. Based on Pearson correlation coefficient (PCC), normal and disease PPI networks were inferred and reweighted. Then, modules in the PPI network were explored by clique-merging algorithm; altered modules were identified via maximum weight bipartite matching and ranked in non-increasing order. Finally, pathways enrichment analysis of genes in altered modules was carried out based on Database for Annotation, Visualization, and Integrated Discovery (DAVID) to study the biological pathways in CHD in DS. Results Our analyses revealed that 348 altered modules were identified by comparing modules in normal and disease PPI networks. Pathway functional enrichment analysis of disrupted module genes showed that the 4 most significantly altered pathways were: ECM-receptor interaction, purine metabolism, focal adhesion, and dilated cardiomyopathy. Conclusions We successfully identified 4 altered pathways and we predicted that these pathways would be good indicators for CHD in DS. PMID:26524729

  4. 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

  5. Recommendations for starting a grown up congenital heart disease (GUCH) unit

    PubMed Central

    Amaral, Fernando Tadeu Vasconcelos; Manso, Paulo Henrique; Schmidt, André; Sgarbieri, Ricardo Nilson; Vicente, Walter Villela de Andrade; Carbone Junior, Clovis; Somerville, Jane

    2015-01-01

    During the last decades, advances in diagnosis and treatment of congenital heart disease have allowed many individuals to reach adulthood. Due mainly to the great diagnostic diversity and to the co-morbidities usually present in this age group, these patients demand assistance in a multidisciplinary facility if an adequate attention is aimed. In this paper we reviewed, based in the international literature and also on the authors’ experience, the structural conditions that should be available for these patients. We highlighted aspects like the facility characteristics, the criteria usually adopted for patient transfer from the paediatric setting, the composition of the medical and para- medical staff taking into account the specific problems, and also the model of outpatient and in-hospital assistance. We also emphasized the importance of patient data storage, the fundamental necessity of institutional support and also the compromise to offer professional training. The crucial relevance of clinical research is also approached, particularly the development of multicenter studies as an appropriate methodology for this heterogeneous patient population. PMID:26313729

  6. 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

  7. Clinical applications of radionuclide imaging in the evaluation and management of patients with congenital heart disease.

    PubMed

    Partington, Sara L; Valente, Anne Marie; Landzberg, Michael; Grant, Frederick; Di Carli, Marcelo F; Dorbala, Sharmila

    2016-02-01

    Non-invasive testing of children with congenital heart disease (CHD) began in the 1950s with the introduction of radionuclide studies to assess shunt fractions, pulmonary blood flow, and ventricular contractile function. Echocardiography and cardiac magnetic resonance imaging have since replaced radionuclide imaging in many of these roles. Concurrently, percutaneous and surgical repairs of complex CHD evolved, creating new roles for radionuclide imaging. In this paper on applications of radionuclide imaging in CHD, we review the multiple mechanisms for myocardial ischemia in CHD. We critically compare optimal radionuclide imaging techniques to other imaging modalities for assessing ischemia in CHD. We present the current role of nuclear imaging for assessing viability and pulmonary blood flow. We highlight the value added by advances in dedicated cardiac SPECT scanners, novel reconstruction software, and cardiac PET in performing low-dose radionuclide imaging in CHD. Finally, we discuss the emerging clinical indications for radionuclide imaging in CHD including coronary flow reserve assessment and evaluation of cardiovascular prosthesis and device infections. PMID:26129940

  8. 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

  9. Combined Cerebral and Renal Near-Infrared Spectroscopy After Congenital Heart Surgery.

    PubMed

    Gil-Anton, Javier; Redondo, Silvia; Garcia Urabayen, Diego; Nieto Faza, Manuel; Sanz, Irene; Pilar, Javier

    2015-08-01

    The maintenance of an adequate oxygen supply to tissues after congenital heart surgery is essential for good outcomes. The objective of this study was to assess the usefulness of near-infrared spectroscopy (NIRS) for estimating central venous oxygen saturation (ScvO2) using both cerebral and renal measurements, explore its relation with cardiac output measurements and check its ability to detect low cardiac output. A prospective observational pilot study was conducted in patients weighing <10 kg undergoing cardiopulmonary bypass surgery. Spectroscopy probes were placed on the forehead and renal area, and serial cardiac output measurements were obtained by femoral transpulmonary thermodilution over the first 24 h after surgery. In the 15 patients studied, ScvO2 was correlated with cerebral (r = 0.58), renal (r = 0.60) and combined (r = 0.71) measurements. Likewise, the systolic index was correlated with the NIRS signals: cerebral (r = 0.60), renal (r = 0.50) and combined (r = 0.66). Statistically significant differences were found in the NIRS measures registered in the 29 low cardiac output events detected by thermodilution: cerebral: 62 % (59-65) versus 69 % (63-76); renal: 83 % (70-89) versus 89 % (83-95); and combined 64 % (60-69) versus 72 % (67-76). In our series, combined cerebral and renal monitoring was correlated with central venous oxygen saturation and cardiac output; low cardiac output detection associated a different spectroscopy pattern. PMID:25764508

  10. 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. PMID:25408587

  11. Cardiomyocytes in Young Infants With Congenital Heart Disease: a Three-Month Window of Proliferation

    PubMed Central

    Ye, Lincai; Qiu, Lisheng; Zhang, Haibo; Chen, Huiwen; Jiang, Chuan; Hong, Haifa; Liu, Jinfen

    2016-01-01

    Perinatal reduction in cardiomyocyte cell cycle activity is well established in animal models and humans. However, cardiomyocyte cell cycle activity in infants with congenital heart disease (CHD) is unknown, and may provide important information to improve treatment. Human right atrial specimens were obtained from infants during routine surgery to repair ventricular septal defects. The specimens were divided into three groups: group A (age 1–3 months); group B (age, 4–6 months); and group C (age 7–12 months). A dramatic fall in the number of Ki67 -positive CHD cardiac myocytes occurred after three months. When cultured in vitro, young CHD myocytes (≤3 months) showed more abundant Ki67-positive cardiomyocytes and greater incorporation of EdU, indicating enhanced proliferation. YAP1 and NICD—important transcript factors in cardiomyocyte development and proliferation—decreased with age and β-catenin increased with age. Compared with those of older infants, cardiomyocytes of young CHD infants (≤3 months) have a higher proliferating capacity in vivo and in vitro. From the perspective of cardiac muscle regeneration, CHD treatment at a younger age (≤3 months) may be more optimal. PMID:26976548

  12. 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

  13. The role of stents in the treatment of congenital heart disease: Current status and future perspectives

    PubMed Central

    Peters, Bjoern; Ewert, Peter; Berger, Felix

    2009-01-01

    Intravascular or intracardiac stenoses occur in many forms of congenital heart disease (CHD). Therefore, the implantation of stents has become an accepted interventional procedure for stenotic lesions in pediatric cardiology. Furthermore, stents are know to be used to exclude vessel aneurysm or to ensure patency of existing or newly created intracardiac communications. With the further refinement of the first generation of devices, a variety of “modern” stents with different design characteristics have evolved. Despite the tremendous technical improvement over the last 20 years, the “ideal stent” has not yet been developed. Therefore, the pediatric interventionalist has to decide which stent is suitable for each lesion. On this basis, currently available stents are discussed in regard to their advantages and disadvantages for common application in CHD. New concepts and designs developed to overcome some of the existing problems, like the failure of adaptation to somatic growth, are presented. Thus, in the future, biodegradable or growth stents might replace the currently used generation of stents. This might truly lead to widening indications for the use of stents in the treatment of CHD. PMID:20300265

  14. 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

  15. 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

  16. A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects.

    PubMed

    Li, Ming; Li, Jingyun; Wei, Changshuai; Lu, Qing; Tang, Xinyu; Erickson, Stephen W; MacLeod, Stewart L; Hobbs, Charlotte A

    2016-01-01

    Congenital heart defects (CHDs) develop through a complex interplay between genetic variants, epigenetic modifications, and maternal environmental exposures. Genetic studies of CHDs have commonly tested single genetic variants for association with CHDs. Less attention has been given to complex gene-by-gene and gene-by-environment interactions. In this study, we applied a recently developed likelihood-ratio Mann-Whitney (LRMW) method to detect joint actions among maternal variants, fetal variants, and maternal environmental exposures, allowing for high-order statistical interactions. All subjects are participants from the National Birth Defect Prevention Study, including 623 mother-offspring pairs with CHD-affected pregnancies and 875 mother-offspring pairs with unaffected pregnancies. Each individual has 872 single nucleotide polymorphisms encoding for critical enzymes in the homocysteine, folate, and trans-sulfuration pathways. By using the LRMW method, three variants (fetal rs625879, maternal rs2169650, and maternal rs8177441) were identified with a joint association to CHD risk (nominal P-value = 1.13e-07). These three variants are located within genes BHMT2, GSTP1, and GPX3, respectively. Further examination indicated that maternal SNP rs2169650 may interact with both fetal SNP rs625879 and maternal SNP rs8177441. Our findings suggest that the risk of CHD may be influenced by both the intragenerational interaction within the maternal genome and the intergenerational interaction between maternal and fetal genomes. PMID:26612412

  17. 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

  18. 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 Central

    2014-01-01

    Abstract 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. PMID:25006452

  19. 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. PMID:25006452

  20. 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.

  1. 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

  2. Brain Volumetrics, Regional Cortical Thickness and Radiographic Findings in Adults with Cyanotic Congenital Heart Disease☆

    PubMed Central

    Cordina, Rachael; Grieve, Stuart; Barnett, Michael; Lagopoulos, Jim; Malitz, Nathan; Celermajer, David S.

    2014-01-01

    Background Chronic cyanosis in adults with congenital heart disease (CHD) may cause structural brain changes that could contribute to impaired neurological functioning. The extent of these changes has not been adequately characterized. Hypothesis We hypothesized that adults with cyanotic CHD would have widespread changes including abnormal brain volumetric measures, decreased cortical thickness and an increased burden of small and large vessel ischemic changes. Methods Ten adults with chronic cyanosis from CHD (40 ± 4 years) and mean oxygen saturations of 82 ± 2% were investigated using quantitative MRI. Hematological and biochemical parameters were also assessed. All subjects were free from major physical or intellectual impairment. Brain volumetric results were compared with randomly selected age- and sex-matched controls from our database of normal subjects. Results Five of 10 cyanotic subjects had cortical lacunar infarcts. The white matter (WM) hyperintensity burden was also abnormally high (Scheltens Scale was 8 ± 2). Quantitative MRI revealed evidence of extensive generalized WM and gray matter (GM) volumetric loss; global GM volume was reduced in cyanosed subjects (630 ± 16 vs. 696 ± 14 mL in controls, p = 0.01) as was global WM volume (471 ± 10 vs. 564 ± 18 mL, p = 0.003). Ventricular cerebrospinal fluid volume was increased (35 ± 10 vs. 26 ± 5 mL, p = 0.002). There were widespread regions of local cortical thickness reduction observed across the brain. These changes included bilateral thickness reductions in the frontal lobe including the dorsolateral prefrontal cortex and precentral gyrus, the posterior parietal lobe and the middle temporal gyrus. Sub-cortical volume changes were observed in the caudate, putamen and in the thalamus (p ≤ 0.005 for all regions). Cortical GM volume negatively correlated with brain natriuretic peptide (R = − 0.89, p = 0.009), high sensitivity C-reactive protein (R = − 0

  3. 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.

  4. Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes

    PubMed Central

    Khodyuchenko, Tatiana; Zlotina, Anna; Pervunina, Tatiana; Zverev, Dmitry; Malashicheva, Anna; Kostareva, Anna

    2015-01-01

    Background. Congenital heart defects (CHDs) often have genetic background due to missense mutations in cardiomyocyte-specific genes. For example, cardiac actin was shown to be involved in pathogenesis of cardiac septum defects and smooth muscle actin in pathogenesis of aortic aneurysm in combination with patent ductus arteriosus (PDA). In the present study, we further searched for mutations in human α-cardiac actin (ACTC1) and smooth muscle α-actin (ACTA2) genes as a possible cause of atrial septum defect type II (ASDII) and PDA. Findings. Total genomic DNA was extracted from peripheral blood of 86 individuals with ASDs and 100 individuals with PDA. Coding exons and flanking intron regions of ACTC1 (NM_005159.4) and ACTA2 (NM_001613) were amplified by PCR with specific primers designed according to the corresponding gene reference sequences. PCR fragments were directly sequenced and analyzed. Sequence analysis of ACTC1 and ACTA2 did not identify any nucleotide changes that altered the coding sense of the genes. In ACTC1 gene, we were able to detect one previously described nucleotide polymorphism (rs2307493) resulting in a synonymous substitution. The frequency of this SNP was similar in the study and control group, thus excluding it from the possible disease-associated variants. Conclusions. Our results confirmed that the mutations in ACTC1 gene are rare (at least <1%) cause of ASDII. Mutations in ACTA2 gene were not detected in patients with PDA, thus being excluded from the list of frequent PDA-associated genetic defects. PMID:25861618

  5. 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

  6. Maternal mid-pregnancy glucose levels and risk of congenital heart disease in offspring

    PubMed Central

    Priest, James R; Yang, Wei; Reaven, Gerald; Knowles, Joshua W.; Shaw, Gary M.

    2016-01-01

    Importance There is a well-described association between maternal diabetes and risk of congenital heart disease (CHD) in offspring. Though the clinical diagnoses of Type 2 diabetes or gestational diabetes are strong risk factors for CHD, sub-clinical abnormalities of glucose and insulin metabolism are common within the general population and could also confer risk for CHD. Objective We explored the potential association of two different CHD phenotypes in offspring with midpregnancy measures of glucose and insulin. Design, Setting, and Participants This is a case-control study from a cohort of 277 pregnant women in southern and central California carrying infants with tetralogy of Fallot (ToF) (n=55), d-transposition of the great arteries (dTGA) (n=42), or normal infants without CHD (n=180), Exposures Measurement of blood analytes related to maternal glucose metabolism taken from random non-fasting second trimester blood samples. Main Outcome and Measures We hypothesize that continuous measures of blood analytes related to maternal diabetes are related to odds of cardiac malformations. We measured serum insulin by a validated radioimmunoassay and glucose levels. Multivariable logistic regression models estimated the association between these levels and case status. Results Relative to maternal blood glucose levels of infants without cardiac malformations, we observed that maternal blood glucose levels in models including insulin were strongly associated with odds of ToF (adjusted Odds Ratio 7.54, 95%CI 2.30–24.69), but not with dTGA (adjusted OR 1.16, 95%CI 0.28–4.79). Conclusions & Relevance These results represent a direct correlation of glucose as a continuous variable to odds of specific cardiac malformations. The association between serum glucose and odds of ToF indicates the need for additional epidemiological and mechanistic investigations into the risk conferred by insulin signaling and glucose metabolism during early pregnancy. PMID:26457543

  7. 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

  8. Grown-up congenital heart disease--medical demands look back, look forward 2000.

    PubMed

    Somerville, J

    2001-02-01

    A new medical community, the grown-up congenital heart patients--GUCH--has resulted from successes of cardiac surgery over 30-40 years. Many survivors have complicated problems, medical and surgical, demanding experience and expertise neither provided nor organised in most countries. Islands of good care exist with difficulty. The experience of one specialist GUCH unit established for 25 years shows that 55-60% admissions are for complex lesions, particularly after complicated surgery. The patients' overall costs are at least twice those of other cardiac patients. GUCH admissions are about 5-8% of the total, varying according to the population/region served. Supervised medical care for GUCH is equally important in outpatient services, involving 3 times the secretarial time of other cardiac patients, an accessible database and a "helpline" for doctors and patients. This may be life-saving in patients with complex conditions. The GUCH population is ageing, with increasing numbers of complex patients. 30% of admissions now are over 40 years old, and 5% are over 60, confirming that this is an adult medical speciality, not paediatric. Invasive investigations and arrhythmias provide the most frequent reasons for admissions--atrial flutter is the commonest arrhythmia, needing experts when it occurs in Fontan, transposition, etc. Routine coronary arteriography is also important. In cardiac surgery, one in five admissions presents organisational problems. Reoperation, now as many as 9 or 10 times, has to be optimised. Reoperation on left and right outflow tracts-for changing valves and conduits--is more common than first operations. GUCH patients represent a relatively small portion of the whole population. Such patients in a population of 7-8 million need to be concentrated in 1-2 centres, depending on culture, religion, geography, language etc., to provide necessary experience, expertise and education. PMID:11243517

  9. 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

  10. 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

  11. 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.

  12. 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

  13. 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

  14. 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

  15. 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

  16. Influence of genes and the environment in familial congenital heart defects.

    PubMed

    Wang, Xike; Li, Pingjuan; Chen, Sun; Xi, Lili; Guo, Ying; Guo, Aihua; Sun, Kun

    2014-02-01

    The present study aimed to investigate genetic and environmental factors involved in the pathogenesis of congenital heart disease (CHD). A total of 61 familial pedigrees with CHD were analyzed, and 134 patients out of 761 family members had a diagnosis of CHD confirmed. The present study revealed that the prevalence of CHD in first‑degree relatives (55/249, 22.0%) was significantly higher than that in second‑degree relatives (18/526, 3.4%). Additionally, the recurrence rate of CHD in families in which the patient's mother (12/61) or sister (15/61) had CHD were significantly higher than in cases with the father (6/61) or brother (4/61) having CHD. The subtypes of CHD with increased risk of recurrence were ventricle septal defect (VSD) and atrial septal defect (ASD), followed by patent ductus arteriosus and tetralogy of fallot (TOF). In the 21 sets of twins among the 61 familial pedigrees analyzed, the concordance of both twins affected by CHD in identical and dizygotic twins was 94.4% (17/18) and 33.3% (1/3), respectively. Identical subtypes of CHD were identified in 10 out of 21 sets of twins. Of note, the following pattern was identified in three sets of the twins: One twin had TOF, while the other one had VSD. A risk factor survey revealed that threatened abortion in early pregnancy was associated with familial CHD. In conclusion, genetic factors may have important roles in the development of CHD, and TOF and VSD may have similar molecular mechanisms. Threatened abortion in early pregnancy is a novel environmental factor that may be specific in Chinese females with CHD. PMID:24337398

  17. 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

  18. Perinatal Decision Making for Preterm Infants with Congenital Heart Disease: Determinable Risk Factors for Mortality.

    PubMed

    Lynema, Stephanie; Fifer, Carlen G; Laventhal, Naomi T

    2016-06-01

    For premature infants with congenital heart disease (CHD), it may be unclear when the burdens of treatment outweigh potential benefits. Parents may thus have to choose between comfort care at birth and medical stabilization until surgical repair is feasible. Better defined outcome data, including risk factors for mortality, are needed to counsel expectant parents who are considering intensive care for premature infants with CHD. We sought to evaluate outcomes in this population to inform expectant parents considering intensive versus palliative care at birth. We performed a retrospective cohort study of infants born <34 weeks who received intensive care with critical or moderately severe CHD predicted to require surgery in the neonatal period or the first 6 months of life. 46 % of 54 infants survived. Among non-survivors, 74 % died prior to surgery (median age 24 days). Of the infants that underwent surgery, 75 % survived. Survival was lower among infants <32 weeks gestational age (GA) (p = 0.013), with birth weight (BW) <1500 g (p = 0.011), or with extra-cardiac anomalies (ECA) (p = 0.015). GA and ECA remained significant risk factors for mortality in multiple logistic regression analysis. In summary, GA < 32 weeks, BW < 1500 g, and ECA are determinable prenatally and were significant risk factors for mortality. The majority of infants who survived to cardiac intervention survived neonatal hospitalization, whereas most of the infants who died did so prior to surgery. For some expectant parents, this early declaration of mortality may support a trial of intensive care while avoiding burdensome interventions. PMID:27037550

  19. Correlations of lung morphology, pulmonary vascular resistance, and outcome in children with congenital heart disease.

    PubMed Central

    Bush, A; Busst, C M; Haworth, S G; Hislop, A A; Knight, W B; Corrin, B; Shinebourne, E A

    1988-01-01

    Pulmonary vascular resistance was measured in air, oxygen, and after administration of vasodilators in 14 children with pulmonary hypertension and congenital heart disease. Lung morphology was examined by light microscopy and assessed quantitatively. In this selected group of patients (a) medial muscle thickness of greater than 20% in the intra-acinar arteries and Heath-Edwards changes of I or II were significantly associated with perioperative death from pulmonary complications after cardiac surgery; (b) children with lower percentage medial muscle thickness had a higher baseline resistance (r = -0.84) associated with Heath-Edwards grade III or higher changes (most of these patients were not offered corrective surgery); (c) when the lowest pulmonary vascular resistance was less than 3 units, Heath-Edwards grading was I or II (n = 4). When the pulmonary vascular resistance was greater than 6 units, however, there was no direct correlation with Heath-Edwards grading (n = 9). Four patients with a resistance of greater than 6 units had only grade I or II changes. Three had a medial muscle thickness above 20%, and were among those who died at or soon after operation. It is concluded that (a) patients with a lowest pulmonary vascular resistance of greater than 6 units have a bad prognosis whatever their lung morphology; and (b) some patients with Heath-Edwards grade I or II will have a high resistance (this group has a high medial muscle mass and a poor prognosis and would not be detected by Heath-Edwards grading alone). PMID:3370183

  20. Hospitalizations, Costs, and Mortality among Infants with Critical Congenital Heart Disease: How Important Is Timely Detection?

    PubMed Central

    Peterson, Cora; Dawson, April; Grosse, Scott D.; Riehle-Colarusso, Tiffany; Olney, Richard S.; Tanner, Jean Paul; Kirby, Russell S.; Correia, Jane A.; Watkins, Sharon M.; Cassell, Cynthia H.

    2015-01-01

    BACKGROUND Critical congenital heart disease (CCHD) was recently added to the U.S. Recommended Uniform Screening Panel for newborns. States considering screening requirements may want more information about the potential impact of screening. This study examined potentially avoidable mortality among infants with late detected CCHD and assessed whether late detection was associated with increased hospital resource use during infancy. METHODS This was a state-wide, population-based, observational study of infants with CCHD (n =3603) born 1998 to 2007 identified by the Florida Birth Defects Registry. We examined 12 CCHD conditions that are targets of newborn screening. Late detection was defined as CCHD diagnosis after the birth hospitalization. Deaths potentially avoidable through screening were defined as those that occurred outside a hospital following birth hospitalization discharge and those that occurred within 3 days of an emergency readmission. RESULTS For 23% (n =825) of infants, CCHD was not detected during the birth hospitalization. Death occurred among 20% (n =568/2,778) of infants with timely detected CCHD and 8% (n =66/825) of infants with late detected CCHD, unadjusted for clinical characteristics. Potentially preventable deaths occurred in 1.8% (n =15/825) of infants with late detected CCHD (0.4% of all infants with CCHD). In multivariable models adjusted for selected characteristics, late CCHD detection was significantly associated with 52% more admissions, 18% more hospitalized days, and 35% higher inpatient costs during infancy. CONCLUSION Increased CCHD detection at birth hospitals through screening may lead to decreased hospital costs and avoid some deaths during infancy. Additional studies conducted after screening implementation are needed to confirm these findings. PMID:24000201

  1. 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. PMID:25621150

  2. 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.

  3. 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

  4. 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

  5. Congenital Heart Disease in Local and Migrant Elementary Schoolchildren in Dongguan, China.

    PubMed

    Kang, Guanyang; Xiao, Jianmin; Wang, Jieying; Chen, Jiuhao; Li, Wei; Wang, Yitong; Liu, Qingchun; Wang, Zhiming; Xia, Jinxi; Huang, Jianzhong; Cheng, Ling; Chen, Yuqiang; Chen, Qiaozhu; Yang, Fan

    2016-02-01

    The aim of this study was to determine the prevalence and treated status of congenital heart disease (CHD) in elementary schoolchildren and facilitate the long-term planning of health care, resource allocation, and development of targeted primary prevention strategies. From November 2011 to November 2012, 540,574 schoolchildren from 449 elementary schools were screened for CHD by trained doctors in Dongguan City. The schoolchildren who were suspected to have CHD were referred to a pediatric cardiologist and/or an echocardiographist for complete evaluation. Of them, 214,634 (39.7%) were local children and 325,940 (60.3%) were migrant children. The total prevalence of CHD was 2.14‰, and there was a significant difference (p <0.05) of the CHD prevalence between local (1.97‰) and migrant children (2.26‰). The treatment rates of CHD in local children and in migrant children were 63.51% and 47.21%, respectively (p <0.01). The commonest CHD was ventricular septal defect (43.13%), followed by atrial septal defect (25.84%) and patent ductus arteriosus (12.79%). With respect to gender, CHD was equally distributed between men and women. In conclusion, social, economic, and environmental risk factors that affect health of migrant children with CHD call for more attention from health policy makers and researchers in contemporary China. Efforts should be made to increase public health investment, establish health care manage system for children from migrant families, and increase the parents' awareness of preventing the CHD. PMID:26704031

  6. 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

  7. A Comparison of Radiation Dose Between Standard and 3D Angiography in Congenital Heart Disease

    PubMed Central

    Manica, João Luiz Langer; Borges, Mônica Scott; de Medeiros, Rogério Fachel; Fischer, Leandro dos Santos; Broetto, Gabriel; Rossi, Raul Ivo

    2014-01-01

    Background The use of three-dimensional rotational angiography (3D-RA) to assess patients with congenital heart diseases appears to be a promising technique despite the scarce literature available. Objectives The objective of this study was to describe our initial experience with 3D-RA and to compare its radiation dose to that of standard two-dimensional angiography (2D-SA). Methods Between September 2011 and April 2012, 18 patients underwent simultaneous 3D-RA and 2D-SA during diagnostic cardiac catheterization. Radiation dose was assessed using the dose-area-product (DAP). Results The median patient age and weight were 12.5 years and 47.5 Kg, respectively. The median DAP of each 3D-RA acquisition was 1093µGy.m2 and 190µGy.m2 for each 2D-SA acquisition (p<0.01). In patients weighing more than 45Kg (n=7), this difference was attenuated but still significant (1525 µGy.m2 vs.413µGy.m2, p=0.01). No difference was found between one 3D-RA and three 2D-SA (1525µGy.m2 vs.1238 µGy.m2, p = 0.575) in this population. This difference was significantly higher in patients weighing less than 45Kg (n=9) (713µGy.m2 vs.81µGy.m2, P = 0.008), even when comparing one 3D-RA with three 2D-SA (242µGy.m2, respectively, p<0.008). 3D-RA was extremely useful for the assessment of conduits of univentricular hearts, tortuous branches of the pulmonary artery, and aorta relative to 2D-SA acquisitions. Conclusions The radiation dose of 3D-RA used in our institution was higher than those previously reported in the literature and this difference was more evident in children. This type of assessment is of paramount importance when starting to perform 3D-RA. PMID:25211313

  8. 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

  9. 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

  10. 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

  11. 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

  12. Pediatric heart surgery - discharge

    MedlinePlus

    ... reduced appetite Alternate Names Congenital heart surgery - discharge; Patent ductus arteriosus ligation - discharge; Hypoplastic left heart repair - ... of the aorta Congenital heart defect - corrective surgery Patent ductus arteriosus Pediatric heart surgery Tetralogy of Fallot ...

  13. Heart CT scan

    MedlinePlus

    ... arteries to determine your risk for heart disease Congenital heart disease (heart problems that are present at birth) Problems ... Abnormal results may be due to: Aneurysm Congenital heart disease ... Narrowing of one or more coronary arteries (coronary artery ...

  14. 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

  15. 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

  16. [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. PMID:26852579

  17. 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. PMID:26056966

  18. 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

  19. Animal models related to congenital heart disease and clinical research in pulmonary hypertension.

    PubMed

    Loukanov, Tsvetomir; Geiger, Ralf; Agrawal, Rahul

    2010-01-01

    There are several animal models for studying human pulmonary hypertension (PH). An increased flow model in pigs was developed at the University Hospital in Heidelberg in order to simulate congenital heart disease. The high pulmonary blood flow is achieved by installation of a Blalock-Taussig anastomosis. In order to further improve this model by adding a pressure component, the left pulmonary artery is ligated. An acute model, which is used at the Innsbruck Medical University, addresses another disease entity. Human meconium is placed deeply into the trachea of the pigs in order to induce an acute respiratory distress syndrome-like response in the lungs. Animals were randomly assigned to four treatment groups. Inhaled iloprost, due to its pulmonary and intrapulmonary selectivity, was the only substance that significantly reduced intrapulmonary shunt volumes. In humans, PH encompasses multiple disease subtypes. Pulmonary arterial hypertension (PAH) accounts for only 6% of PH cases, however, all existing treatments are indicated only for PAH. This means that for 94% of patients with PH, no specific medication is available. Therefore, huge efforts have been made to better understand the pathophysiology of PH and to detect new signalling pathways that may allow new compounds to be developed that will ultimately improve the prognosis of PAH and non-PAH PH patients. Promising new substances include riociguat, a stimulator of the soluble guanylate cyclase (sGC), as well as cinaciguat, a sGC activator, and an elastase inhibitor. Riociguat (BAY 63-2521) is an oral agent that targets the intact/native form of sGC. It enhances the sensitivity of sGC to low levels of bioavailable nitric oxide (NO) and is also capable of stimulating native sGC independently of NO. Thus, unlike phosphodiesterase-5 inhibitors, the effect of riociguat is not limited by low NO levels. In a multicentre open-label phase II study, riociguat exerted strong and significant effects on pulmonary

  20. Challenges Caring for Adults With Congenital Heart Disease in Pediatric Settings: How Nurses Can Aid in the Transition.

    PubMed

    Anton, Kristin

    2016-08-01

    As surgery for complex congenital heart disease is becoming more advanced, an increasing number of patients are surviving into adulthood, yet many of these adult patients remain in the pediatric hospital system. Caring for adult patients is often a challenge for pediatric nurses, because the nurses have less experience and comfort with adult care, medications, comorbid conditions, and rehabilitation techniques. As these patients age, the increased risk of complications and comorbid conditions from their heart disease may complicate their care further. Although these patients are admitted on a pediatric unit, nurses can aid in promoting their independence and help prepare them to transition into the adult medical system. Nurses, the comprehensive medical teams, and patients' families can all effectively influence the process of preparing these patients for transition to adult care. PMID:27481810

  1. Impact of Right-Sided-Catheter-Based Valve Implantation on Decision-Making in Congenital Heart Disease.

    PubMed

    Ghobrial, Joanna; Aboulhosn, Jamil

    2016-03-01

    There is a growing appreciation for the adverse long-term impact of right-sided valvular dysfunction in patients with congenital heart disease. Although right-sided valvular stenosis and/or regurgitation is often better tolerated than left-sided valvular dysfunction in the short and intermediate term, the long-term consequences are numerous and include, but are not limited to, arrhythmias, heart failure, and multi-organ dysfunction. Surgical right-sided valve interventions have been performed for many decades, but the comorbidities associated with multiple surgeries are a concern. Transcatheter right-sided valve replacement is safe and effective and is being performed at an increasing number of centers around the world. It offers an alternative to traditional surgical techniques and may potentially alter the decision making process whereby valvular replacement is performed prior to the development of long-term sequelae of right-sided valvular dysfunction. PMID:26915011

  2. 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

  3. 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

  4. 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.

  5. Pulmonary vascular disease in different types of congenital heart disease. Implications for interpretation of lung biopsy findings in early childhood.

    PubMed Central

    Haworth, S G

    1984-01-01

    Pulmonary vascular structure was studied by analysing serial reconstructions of the arterial pathways and random sections of tissue in the lungs of 16 children who died with different types of congenital heart disease and pulmonary hypertension. Cases of ventricular septal defect showed an appreciable increase in muscularity of both preacinar and intra-acinar (respiratory unit) arteries, and intimal proliferation was infrequent and mild. By contrast, cases of transposition of the great arteries with ventricular septal defect and atrioventricular septal defect showed an increase in preacinar muscularity, a short heavily muscularised arterial segment containing intimal proliferation at the entrance to the acinus, whereas the intra-acinar arteries beyond showed only a moderate increase in muscularity. In these children who were less than 1 year of age an increase in pulmonary vascular resistance was due to strategically placed small areas of intimal proliferation and not to widespread obliterative pulmonary vascular disease. The study demonstrated and explained differences in the appearance of the peripheral pulmonary arteries in different types of congenital heart disease, which help interpret the findings of lung biopsies. Images PMID:6498033

  6. 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

  7. 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

  8. Bayesian multinomial probit modeling of daily windows of susceptibility for maternal PM2.5 exposure and congenital heart defects.

    PubMed

    Warren, Joshua L; Stingone, Jeanette A; Herring, Amy H; Luben, Thomas J; Fuentes, Montserrat; Aylsworth, Arthur S; Langlois, Peter H; Botto, Lorenzo D; Correa, Adolfo; Olshan, Andrew F

    2016-07-20

    Epidemiologic studies suggest that maternal ambient air pollution exposure during critical periods of pregnancy is associated with adverse effects on fetal development. In this work, we introduce new methodology for identifying critical periods of development during post-conception gestational weeks 2-8 where elevated exposure to particulate matter less than 2.5 µm (PM2.5 ) adversely impacts development of the heart. Past studies have focused on highly aggregated temporal levels of exposure during the pregnancy and have failed to account for anatomical similarities between the considered congenital heart defects. We introduce a multinomial probit model in the Bayesian setting that allows for joint identification of susceptible daily periods during pregnancy for 12 types of congenital heart defects with respect to maternal PM2.5 exposure. We apply the model to a dataset of mothers from the National Birth Defect Prevention Study where daily PM2.5 exposures from post-conception gestational weeks 2-8 are assigned using predictions from the downscaler pollution model. This approach is compared with two aggregated exposure models that define exposure as the average value over post-conception gestational weeks 2-8 and the average over individual weeks, respectively. Results suggest an association between increased PM2.5 exposure on post-conception gestational day 53 with the development of pulmonary valve stenosis and exposures during days 50 and 51 with tetralogy of Fallot. Significant associations are masked when using the aggregated exposure models. Simulation study results suggest that the findings are robust to multiple sources of error. The general form of the model allows for different exposures and health outcomes to be considered in future applications. Copyright © 2016 John Wiley & Sons, Ltd. PMID:26853919

  9. 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…

  10. The Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model: Part 2—Clinical Application

    PubMed Central

    Jacobs, Jeffrey P.; O’Brien, Sean M.; Pasquali, Sara K.; Gaynor, J. William; Mayer, John E.; Karamlou, Tara; Welke, Karl F.; Filardo, Giovanni; Han, Jane M.; Kim, Sunghee; Quintessenza, James A.; Pizarro, Christian; Tchervenkov, Christo I.; Lacour-Gayet, Francois; Mavroudis, Constantine; Backer, Carl L.; Austin, Erle H.; Fraser, Charles D.; Tweddell, James S.; Jonas, Richard A.; Edwards, Fred H.; Grover, Frederick L.; Prager, Richard L.; Shahian, David M.; Jacobs, Marshall L.

    2016-01-01

    Background The empirically derived 2014 Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model incorporates adjustment for procedure type and patient-specific factors. The purpose of this report is to describe this model and its application in the assessment of variation in outcomes across centers. Methods All index cardiac operations in The Society of Thoracic Surgeons Congenital Heart Surgery Database (January 1, 2010, to December 31, 2013) were eligible for inclusion. Isolated patent ductus arteriosus closures in patients weighing less than or equal to 2.5 kg were excluded, as were centers with more than 10% missing data and patients with missing data for key variables. The model includes the following covariates: primary procedure, age, any prior cardiovascular operation, any noncardiac abnormality, any chromosomal abnormality or syndrome, important preoperative factors (mechanical circulatory support, shock persisting at time of operation, mechanical ventilation, renal failure requiring dialysis or renal dysfunction (or both), and neurological deficit), any other preoperative factor, prematurity (neonates and infants), and weight (neonates and infants). Variation across centers was assessed. Centers for which the 95% confidence interval for the observed-to-expected mortality ratio does not include unity are identified as lower-performing or higher-performing programs with respect to operative mortality. Results Included were 52,224 operations from 86 centers. Overall discharge mortality was 3.7% (1,931 of 52,224). Discharge mortality by age category was neonates, 10.1% (1,129 of 11,144); infants, 3.0% (564 of 18,554), children, 0.9% (167 of 18,407), and adults, 1.7% (71 of 4,119). For all patients, 12 of 86 centers (14%) were lower-performing programs, 67 (78%) were not outliers, and 7 (8%) were higher-performing programs. Conclusions The 2014 Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model

  11. Personalized medicine in the care of the child with congenital heart disease: discovery to application.

    PubMed

    Binesh Marvasti, Tina; D'Alessandro, Lisa C A; Manase, Dorin; Papaz, Tanya; Mital, Seema

    2013-01-01

    On October 27-28, 2012, the SickKids Labatt Family Heart Centre and the Heart Centre Biobank Registry hosted the second international GenomeHeart symposium in Toronto, Ontario. The symposium featured experts in cardiology, developmental biology, pharmacology, genomics, bioinformatics, stem cell biology, biobanking, and ethics. The theme of this year's symposium was the application of emerging technologies in genomics, proteomics, transcriptomics, and bioinformatics to diagnostics and therapeutics of the child with heart disease. Social, ethical, and economic issues were also discussed in the context of clinical translation. We highlight some of the themes that emerged from this exciting 2-day event. PMID:23601919

  12. 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

  13. 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…

  14. Conservative therapy with a gonadotropin-releasing hormone agonist for a uterine arteriovenous malformation in a patient with congenital heart disease

    PubMed Central

    Katano, Kinue; Takeda, Yutaka; Sugiura-Ogasawara, Mayumi

    2015-01-01

    Key Clinical Message Uterine arteriovenous malformation (AVM) is rare but it can cause life-threatening genital bleeding. Conservative therapy with GnRHa can be a useful option for treating a uterine AVM presenting with a congenital heart disease shunt in hemodynamically stable patients. PMID:26185652

  15. Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

    PubMed Central

    Chaiyasap, Pongsathorn; Kulawonganunchai, Supasak; Srichomthong, Chalurmpon; Tongsima, Sissades; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

    2014-01-01

    Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. Here, we identified a pair of monozygotic twins with trisomy 21 but discordant for a ventricular septal defect and epilepsy. Twin-zygosity was confirmed by microsatellite genotyping. We hypothesized that some genetic differences from post-twinning mutations caused the discordant phenotypes. Thus, next generation sequencing (NGS) technologies were applied to sequence both whole genome and exome of their leukocytes. The post-analyses of the sequencing data revealed 21 putative discordant exonic variants between the twins from either genome or exome data. However, of the 15 variants chosen for validation with conventional Sanger sequencing, these candidate variants showed no differences in both twins. The fact that no discordant DNA variants were found suggests that sequence differences of DNA from leukocytes of monozygotic twins might be extremely rare. It also emphasizes the limitation of the current NGS technology in identifying causative genes for discordant phenotypes in monozygotic twins. PMID:24950249

  16. 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, impulsive behavior. We studied genotype-phenotype correlations in nine unrelated patients with a de novo del8p, by using the combination of classic cytogenetics, FISH, and the analysis of polymorphic DNA markers. With the exception of one large terminal deletion, all deletions were interstitial. In five patients, a commonly deleted region of approximately 6 Mb was present, with breakpoints clustering in the same regions. One patient without a heart defect or microcephaly but with mild mental retardation and characteristic behavior had a smaller deletion within this commonly deleted region. Two patients without a heart defect had a more proximal interstitial deletion that did not overlap with the commonly deleted region. Taken together, these data allowed us to define the critical deletion regions for the major features of a del8p. PMID:10090897

  17. Congenital Heart Block Maternal Sera Autoantibodies Target an Extracellular Epitope on the α1G T-Type Calcium Channel in Human Fetal Hearts

    PubMed Central

    Rath, Arianna; Liu, Jie; Silverman, Earl D.; Liu, Xiaoru; Siragam, Vinayakumar; Ackerley, Cameron; Su, Brenda Bin; Yan, Jane Yuqing; Capecchi, Marco; Biavati, Luca; Accorroni, Alice; Yuen, William; Quattrone, Filippo; Lung, Kalvin; Jaeggi, Edgar T.; Backx, Peter H.; Deber, Charles M.; Hamilton, Robert M.

    2013-01-01

    Background Congenital heart block (CHB) is a transplacentally acquired autoimmune disease associated with anti-Ro/SSA and anti-La/SSB maternal autoantibodies and is characterized primarily by atrioventricular (AV) block of the fetal heart. This study aims to investigate whether the T-type calcium channel subunit α1G may be a fetal target of maternal sera autoantibodies in CHB. Methodology/Principal Findings We demonstrate differential mRNA expression of the T-type calcium channel CACNA1G (α1G gene) in the AV junction of human fetal hearts compared to the apex (18–22.6 weeks gestation). Using human fetal hearts (20–22 wks gestation), our immunoprecipitation (IP), Western blot analysis and immunofluorescence (IF) staining results, taken together, demonstrate accessibility of the α1G epitope on the surfaces of cardiomyocytes as well as reactivity of maternal serum from CHB affected pregnancies to the α1G protein. By ELISA we demonstrated maternal sera reactivity to α1G was significantly higher in CHB maternal sera compared to controls, and reactivity was epitope mapped to a peptide designated as p305 (corresponding to aa305–319 of the extracellular loop linking transmembrane segments S5–S6 in α1G repeat I). Maternal sera from CHB affected pregnancies also reacted more weakly to the homologous region (7/15 amino acids conserved) of the α1H channel. Electrophysiology experiments with single-cell patch-clamp also demonstrated effects of CHB maternal sera on T-type current in mouse sinoatrial node (SAN) cells. Conclusions/Significance Taken together, these results indicate that CHB maternal sera antibodies readily target an extracellular epitope of α1G T-type calcium channels in human fetal cardiomyocytes. CHB maternal sera also show reactivity for α1H suggesting that autoantibodies can target multiple fetal targets. PMID:24039792

  18. The challenge of staphylococcal pacemaker endocarditis in a patient with transposition of the great arteries endocarditis in congenital heart disease

    SciTech Connect

    Ch'ng, Julie; Chan, William; Lee, Paul; Joshi, Subodh; Grigg, Leanne E.; Ajani, Andrew E

    2003-06-01

    Staphylococcus aureus is a leading cause of septicaemia and infective endocarditis. The overall incidence of staphylococcal bacteraemia is increasing, contributing to 16% of all hospital-acquired bacteraemias. The use of cardiac pacemakers has revolutionized the management of rhythm disturbances, yet this has also resulted in a group of patients at risk of pacemaker lead endocarditis and seeding in the range of 1% to 7%. We describe a 26-year-old man with transposition of the great arteries who had a pacemaker implanted and presented with S. aureus septicaemia 2 years postpacemaker implantation and went on to develop pacemaker lead endocarditis. This report illustrates the risk of endocarditis in the population with congenital heart disease and an intracardiac device.

  19. Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect

    SciTech Connect

    Howard, C.M.; Davis, G.E.; Farrer, M.J.; Cullen, L.M.; Coleman, M.M.; Williamson, R.; Wyse, R.K.H.; Palmer, R.; Kessling, A.M. )

    1993-08-01

    The authors have used DNA polymorphisms to study meiotic crossovers of chromosome 21q in 27 nuclear families. Each family had a child with Down syndrome and a congenital heart defect. Twenty DNA polymorphisms on chromosome 21 were used to determine parental and meiotic origin of nondisjunction and to identify crossovers. Twenty-four cases were of maternal origin, and three were of paternal origin. Twenty-two unequivocal crossover events were identified. Sixteen crossovers were observed in 22 chromosome pairs nondisjoining at the first meiotic division (MI), and six crossovers were observed in five chromosome pairs disjoining at the second meiotic division. Fifty percent of crossover events in MI nondisjunction are detectable by molecular genetic means. Thus, the results suggest that, in this sample, each nondisjoined chromosome 21 pair has been involved in at least one crossover event. 28 refs., 1 fig., 3 tabs.

  20. Impact of the International Quality Improvement Collaborative on outcomes after congenital heart surgery: A single center experience in a developing economy

    PubMed Central

    Balachandran, Rakhi; Kappanayil, Mahesh; Sen, Amitabh Chanchal; Sudhakar, Abhish; Nair, Suresh G.; Sunil, G. S.; Raj, R. Benedict; Kumar, Raman Krishna

    2015-01-01

    Background: The International Quality Improvement Collaborative (IQIC) for Congenital Heart Surgery in Developing Countries was initiated to decrease mortality and major complications after congenital heart surgery in the developing world. Objective: We sought to assess the impact of IQIC on postoperative outcomes after congenital heart surgery at our institution. Methods: The key components of the IQIC program included creation of a robust worldwide database on key outcome measures and nurse education on quality driven best practices using telemedicine platforms. We evaluated 1702 consecutive patients ≤18 years undergoing congenital heart surgery in our institute from January 2010-December 2012 using the IQIC database. Preoperative variables included age, gender, weight at surgery and surgical complexity as per the RACHS-1 model. The outcome variables included, in- hospital mortality, duration of ventilation, intensive care unit (ICU) stay, bacterial sepsis and surgical site infection. Results: The 1702 patients included 771(45.3%) females. The median age was 8 months (0.03-216) and the median weight was 6.1Kg (1-100). The overall in-hospital mortality was 3.1%, Over the three years there was a significant decline in bacterial sepsis (from 15.1%, to 9.6%, P < 0.001), surgical site infection (11.1% to 2.4%, P < 0.001) and duration of ICU stay from 114(8-999) hours to 72 (18-999) hours (P < 0.001) The decline in mortality from (4.3% to 2.2%) did not reach statistical significance. Conclusions: The inclusion of our institution in the IQIC program was associated with improvement in key outcome measures following congenital heart surgery over a three year period. PMID:25566712

  1. [Prevalence of congenital heart diseases in Koranic schools (daara) in Dakar: a cross-sectional study based on clinical and echocardiographic screening in 2019 school children].

    PubMed

    Bodian, M; Ngaïdé, A A; Mbaye, A; Sarr, S A; Jobe, M; Ndiaye, M B; Kane, A D; Aw, F; Gaye, N D; Ba, F G; Bah, M B; Tabane, A; Dioum, M; Diagne, D; Diao, M; Diack, B; Sarr, M; Kane, A; Bâ, S A

    2015-02-01

    Congenital heart diseases are one of the major cardiovascular diseases in developing countries. Most prevalence studies were based on clinical examination of children with echocardiographic confirmation of suspected cases and underestimate its prevalence. The objective of this study was to investigate the prevalence of congenital heart disease in "daara" (Koranic schools) in the city of Dakar and its suburbs on the basis of clinical examination and Doppler echocardiography in school children. This cross-sectional survey was carried out from 9(th) August to 24(th) December 2011, and included a population of 2019 school children aged 5 to 18 years in 16 selected "daaras" under the Academic Inspectorate of Dakar and its suburbs. Anamnestic, clinical and echocardiographic data were recorded in a validated questionnaire. A p < 0.05 was considered to be statistically significant in bivariate analysis. 2 019 school children were included out of which 60.1% were male (sex-ratio: 0.66). The average age was 9.7 years (± 3.3 years). 18 cases of congenital heart diseases were detected being a prevalence of 8.9 per 1 000 (95 % CI: 1.8 to 7.9). This included 6 cases of inter-atrial septal aneurysm, 5 cases of peri-membranous ventricular septal defects, 4 cases of patent ductusarteriosus and 3 cases of tetralogy of Fallot. Factors correlated with the presence of congenital heart disease were ageless than 8 (p <0.001) and residence in the suburbs of Dakar (p <0.001). We also detected 10 cases of rheumatic valvular disease, a prevalence of 4.9 per 1 000 (95% CI: 2.4 to 9.1). Our study shows a high prevalence of congenital heart diseases, which is almost identical to the WHO estimates and that ultrasound screening is more sensitive than clinical screening. Reducing the prevalence of these diseases requires implementation of appropriate policies, focusing on awareness and early detection. PMID:25516291

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

    PubMed Central

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

    2015-01-01

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

  3. Dynamic three-dimensional reconstruction and modeling of cardiovascular anatomy in children with congenital heart disease using biplane angiography.

    PubMed

    Lanning, Craig; Chen, S Y; Hansgen, Adam; Chang, Dennis; Chan, K Chen; Shandas, Robin

    2004-01-01

    Modeling and simulation of cardiovascular biomechanics and fluid dynamics from patient-specific data is a continuing topic of research investigation. Several methodologies utilizing CT, MRI and ultrasound to re-create the three-dimensional anatomy of the cardiovascular system have been examined. Adaptation of these models to pediatric applications has not been studied as extensively. There is significant need for such techniques in pediatric congenital heart disease since local anatomy may exhibit highly unusual geometry, and three-dimensional information would be of significant use for surgical and interventional planning, biomechanical and fluid dynamic simulation, and patient counseling. We report here on the adaptation and application of a three-dimensional reconstruction technique that utilizes bi-plane angiographic images as the base data sets. The method has been validated in a variety of adult imaging situations including coronary artery imaging and intervention. The method uses a skeletonization approach whereby local centerline, diameter, branching and tortuosity of the vasculature are obtained to create the three-dimensional model. Ten patients with a variety of etiology were imaged and 3D reconstructions were obtained. Excellent images were obtained of complex anatomy including the highly branched pulmonary vasculature and Fontan surgical connections. The data were then translated into solid and surface models to facilitate viewing, export into computational fluid dynamic grids, and into files suitable for stereo lithography fabrication (STL). This method appears promising for the dynamic study of complex cardiovascular anatomy found in congenital heart disease. Optimization of the method to facilitate on-line reconstruction and simulation are currently ongoing. PMID:15133958

  4. Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci

    PubMed Central

    2013-01-01

    Background Congenital heart defects (CHD) is the most common cause of death from a congenital structure abnormality in newborns and is often associated with fetal loss. There are many types of CHD. Human genetic studies have identified genes that are responsible for the inheritance of a particular type of CHD and for some types of CHD previously thought to be sporadic. However, occasionally different members of the same family might have anatomically distinct defects — for instance, one member with atrial septal defect, one with tetralogy of Fallot, and one with ventricular septal defect. Our objective is to identify susceptibility loci for CHD in families affected by distinct defects. The occurrence of these apparently discordant clinical phenotypes within one family might hint at a genetic framework common to most types of CHD. Results We performed a genome-wide linkage analysis using MOD score analysis in families with diverse CHD. Significant linkage was obtained in two regions, at chromosome 15 (15q26.3, Pempirical = 0.0004) and at chromosome 18 (18q21.2, Pempirical = 0.0005). Conclusions In these two novel regions four candidate genes are located: SELS, SNRPA1, and PCSK6 on 15q26.3, and TCF4 on 18q21.2. The new loci reported here have not previously been described in connection with CHD. Although further studies in other cohorts are needed to confirm these findings, the results presented here together with recent insight into how the heart normally develops will improve the understanding of CHD. PMID:23705960

  5. The impact of congenital heart diseases on the quality of life of patients and their families in Saudi Arabia

    PubMed Central

    Azhar, Ahmad S.; AlShammasi, Zahra H.; Higgi, Rawan E.

    2016-01-01

    Objectives: To assess the impact of congenital heart diseases (CHDs) on bio-psychosocial aspects of the quality of life (QOL) of patients and their families. Methods: A cross-sectional study was carried out between May 2014 and August 2015, including children aged <16 years, and followed-up at King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia for CHD. A broad questionnaire was administered to investigate biological, psychological, and social dimensions of afflicted children, their parents, and siblings. Outcomes were computed as impact scores (0-100%) for each dimension and family member. Results: A total of 180 children (104 [57.8%] males; mean age ± standard deviation [SD] = 5.65 ± 4.8 years) were included. There were 25% children complaining of recurrent respiratory infections, 35% of frequent hospitalizations, 38.9% had milestone delay, and 12 (6.7%) only had a social security registration. Mothers declared difficulty coping with their children’s disease in 20% of cases and 22.2% reported being depressed. Mean ± SD impact scores in afflicted children were: 26.1 ± 26.2 (biological), 28.7 ± 28.8 (psychological), and (20.2 ± 25.7) social dimensions. Mothers’ impact scores were higher than fathers’. Complex CHDs had an additional impact, and children from families with less knowledge on CHD had relatively greater impact scores. Conclusion: Congenital heart diseases impact all aspects of QOL of patients and their families, and are associated with high comorbidity. Social and psychological support and education for patients and their parents are crucial factors for improving QOL. PMID:27052282

  6. Is there a relationship between surgical case volume and mortality in congenital heart disease services? A rapid evidence review

    PubMed Central

    Preston, L; Turner, J; Booth, A; O'Keeffe, C; Campbell, F; Jesurasa, A; Cooper, K; Goyder, E

    2015-01-01

    Objective To identify and synthesise the evidence on the relationship between surgical volume and patient outcomes for adults and children with congenital heart disease. Design Evidence synthesis of interventional and observational studies. Data sources MEDLINE, EMBASE, CINAHL, Cochrane Library and Web of Science (2009–2014) and citation searching, reference lists and recommendations from stakeholders (2003–2014) were used to identify evidence. Study selection Quantitative observational and interventional studies with information on volume of surgical procedures and patient outcomes were included. Results 31 of the 34 papers identified (91.2%) included only paediatric patients. 25 (73.5%) investigated the relationship between volume and mortality, 7 (20.6%) mortality and other outcomes and 2 (5.9%) non-mortality outcomes only. 88.2% were from the US, 97% were multicentre studies and all were retrospective observational studies. 20 studies (58.8%) included all congenital heart disease conditions and 14 (41.2%) single conditions or procedures. No UK studies were identified. Most studies showed a relationship between volume and outcome but this relationship was not consistent. The relationship was stronger for single complex conditions or procedures. We found limited evidence about the impact of volume on non-mortality outcomes. A mixed picture emerged revealing a range of factors, in addition to volume, that influence outcome including condition severity, individual centre and surgeon effects and clinical advances over time. Conclusions The heterogeneity of findings from observational studies suggests that, while a relationship between volume and outcome exists, this is unlikely to be a simple, independent and directly causal relationship. The effect of volume on outcome relative to the effect of other, as yet undetermined, health system factors remains a complex and unresolved research question. PMID:26685029

  7. Maternal Exposure to Criteria Air Pollutants and Congenital Heart Defects in Offspring: Results from the National Birth Defects Prevention Study

    PubMed Central

    Luben, Thomas J.; Daniels, Julie L.; Fuentes, Montserrat; Richardson, David B.; Aylsworth, Arthur S.; Herring, Amy H.; Anderka, Marlene; Botto, Lorenzo; Correa, Adolfo; Gilboa, Suzanne M.; Langlois, Peter H.; Mosley, Bridget; Shaw, Gary M.; Siffel, Csaba; Olshan, Andrew F.

    2014-01-01

    Background: Epidemiologic literature suggests that exposure to air pollutants is associated with fetal development. Objectives: We investigated maternal exposures to air pollutants during weeks 2–8 of pregnancy and their associations with congenital heart defects. Methods: Mothers from the National Birth Defects Prevention Study, a nine-state case–control study, were assigned 1-week and 7-week averages of daily maximum concentrations of carbon monoxide, nitrogen dioxide, ozone, and sulfur dioxide and 24-hr measurements of fine and coarse particulate matter using the closest air monitor within 50 km to their residence during early pregnancy. Depending on the pollutant, a maximum of 4,632 live-birth controls and 3,328 live-birth, fetal-death, or electively terminated cases had exposure data. Hierarchical regression models, adjusted for maternal demographics and tobacco and alcohol use, were constructed. Principal component analysis was used to assess these relationships in a multipollutant context. Results: Positive associations were observed between exposure to nitrogen dioxide and coarctation of the aorta and pulmonary valve stenosis. Exposure to fine particulate matter was positively associated with hypoplastic left heart syndrome but inversely associated with atrial septal defects. Examining individual exposure-weeks suggested associations between pollutants and defects that were not observed using the 7-week average. Associations between left ventricular outflow tract obstructions and nitrogen dioxide and between hypoplastic left heart syndrome and particulate matter were supported by findings from the multipollutant analyses, although estimates were attenuated at the highest exposure levels. Conclusions: Using daily maximum pollutant levels and exploring individual exposure-weeks revealed some positive associations between certain pollutants and defects and suggested potential windows of susceptibility during pregnancy. Citation: Stingone JA, Luben TJ

  8. A system for rapid prototyping of hearts with congenital malformations based on the medical imaging interaction toolkit (MITK)

    NASA Astrophysics Data System (ADS)

    Wolf, Ivo; Böttger, Thomas; Rietdorf, Urte; Maleike, Daniel; Greil, Gerald; Sieverding, Ludger; Miller, Stephan; Mottl-Link, Sibylle; Meinzer, Hans-Peter

    2006-03-01

    Precise knowledge of the individual cardiac anatomy is essential for diagnosis and treatment of congenital heart disease. Complex malformations of the heart can best be comprehended not from images but from anatomic specimens. Physical models can be created from data using rapid prototyping techniques, e.g., lasersintering or 3D-printing. We have developed a system for obtaining data that show the relevant cardiac anatomy from high-resolution CT/MR images and are suitable for rapid prototyping. The challenge is to preserve all relevant details unaltered in the produced models. The main anatomical structures of interest are the four heart cavities (atria, ventricles), the valves and the septum separating the cavities, and the great vessels. These can be shown either by reproducing the morphology itself or by producing a model of the blood-pool, thus creating a negative of the morphology. Algorithmically the key issue is segmentation. Practically, possibilities allowing the cardiologist or cardiac surgeon to interactively check and correct the segmentation are even more important due to the complex, irregular anatomy and imaging artefacts. The paper presents the algorithmic and interactive processing steps implemented in the system, which is based on the open-source Medical Imaging Interaction Toolkit (MITK, www.mitk.org). It is shown how the principles used in MITK enable to assemble the system from modules (functionalities) developed independently from each other. The system allows to produce models of the heart (and other anatomic structures) of individual patients as well as to reproduce unique specimens from pathology collections for teaching purposes.

  9. Do multivitamin supplements reduce the risk for congenital heart defects? Evidence and gaps

    PubMed Central

    Botto, L

    2000-01-01

    Progress in the primary prevention of heart defects has been slow. Some findings suggest that multivitamin supplementation might reduce the risk for some heart defects. This review of the literature shows that two studies, one of which is a randomized clinical trial, provide data supporting a possible protective effect of multivitamins for all heart defects combined (a 25 to 50% reduction). Three of five studies support a protective effect for outflow tract defects, whereas two studies do not. More studies are clearly needed to elucidate the relation between multivitamin use and occurrence of heart defects. Such studies must take into account intake from multiple sources (diet and supplements), as well as genetic background and potential confounders. From a practical perspective, all health-care providers, including pediatric cardiologists, should ensure that women of childbearing age, regardless of whether they had a previous child with a heart defect, take a multivitamin containing 400 micrograms of folic acid, to reduce their risk of having a baby with a neural tube defect. Should such supplements eventually be proven to reduce the risk also for heart defects, this would be an important additional benefit of such supplement use. PMID:22368589

  10. Successful Repair of Hypoplastic Left Heart Syndrome With Intact Atrial Septum, Congenital Diaphragm Hernia, and Anomalous Origin of Coronary Artery: Defying the Odds.

    PubMed

    Sathanandam, Shyam; Kumar, T K Susheel; Feliz, Alexander; Knott-Craig, Christopher J

    2016-07-01

    We report a case of an infant who was postnatally diagnosed with hypoplastic left heart syndrome and an intact atrial septum who underwent emergent atrial decompression followed by the Norwood operation. She was also found to have a congenital diaphragmatic hernia on the left side and a congenital eventration of the right diaphragm, both requiring surgical repair. She was later found to have an anomalous origin of the left circumflex coronary artery from the right pulmonary artery that was ligated at the time of the bilateral bidirectional Glenn operation. She is currently thriving at home, defying all odds. PMID:27343534

  11. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

    PubMed Central

    Mlynarski, Elisabeth E.; Xie, Michael; Taylor, Deanne; Sheridan, Molly B.; Guo, Tingwei; Racedo, Silvia E.; McDonald-McGinn, Donna M.; Chow, Eva W. C.; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J.; Roberts, Amy E.; Piotrowicz, Małgorzata; Bearden, Carrie E.; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R.; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Goldmuntz, Elizabeth; Bassett, Anne S.; Morrow, Bernice E.

    2016-01-01

    The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60–75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients. PMID:26742502

  12. Using optical coherence tomography to rapidly phenotype and quantify congenital heart defects associated with prenatal alcohol exposure

    PubMed Central

    Karunamuni, Ganga; Gu, Shi; Doughman, Yong Qiu; Noonan, Amanda I.; Rollins, Andrew M.; Jenkins, Michael W.; Watanabe, Michiko

    2014-01-01

    Background The most commonly used method to analyze congenital heart defects involves serial sectioning and histology. However, this is often a time-consuming process where the quantification of cardiac defects can be difficult due to problems with accurate section registration. Here we demonstrate the advantages of using optical coherence tomography, a comparatively new and rising technology, to phenotype avian embryo hearts in a model of Fetal Alcohol Syndrome where a binge-like quantity of alcohol/ethanol was introduced at gastrulation. Results The rapid, consistent imaging protocols allowed for the immediate identification of cardiac anomalies, including ventricular septal defects and misaligned/missing vessels. Interventricular septum thicknesses and vessel diameters for three of the five outflow arteries were also significantly reduced. Outflow and atrio-ventricular valves were segmented using image processing software and had significantly reduced volumes compared to controls. This is the first study to our knowledge that has 3-D reconstructed the late-stage cardiac valves in precise detail in order to examine their morphology and dimensions. Conclusion We believe therefore that OCT, with its ability to rapidly image and quantify tiny embryonic structures in high resolution, will serve as an excellent and cost-effective preliminary screening tool for developmental biologists working with a variety of experimental/disease models. PMID:25546089

  13. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

    PubMed

    Mlynarski, Elisabeth E; Xie, Michael; Taylor, Deanne; Sheridan, Molly B; Guo, Tingwei; Racedo, Silvia E; McDonald-McGinn, Donna M; Chow, Eva W C; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, Małgorzata; Bearden, Carrie E; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Goldmuntz, Elizabeth; Bassett, Anne S; Morrow, Bernice E; Emanuel, Beverly S

    2016-03-01

    The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60-75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients. PMID:26742502

  14. Current Approaches to Device Implantation in Pediatric and Congenital Heart Disease Patients

    PubMed Central

    Miller, Jacob R; Lancaster, Timothy S; Eghtesady, Pirooz

    2015-01-01

    Summary The pediatric ventricular assist device (VAD) has recently shown substantial improvements in survival as a bridge to heart transplant for patients with end-stage heart failure. Since that time, its use has become much more frequent. With increasing utilization, additional questions have arisen including patient selection, timing of VAD implantation and device selection. These challenges are amplified by the uniqueness of each patient, the recent abundance of literature surrounding VAD use, as well as the technological advancements in the devices themselves. Ideal strategies for device placement must be sought, for not only improved patient care, but for optimal resource utilization. Here, we review the most relevant literature to highlight some of the challenges facing the heart failure specialist, and any physician, who will care for a child with a VAD. PMID:25732410

  15. Major adverse cardiovascular events in adult congenital heart disease: a population-based follow-up study from Taiwan

    PubMed Central

    2014-01-01

    Background The aim of the present study was to identify the long-term major adverse cardiovascular events (MACE) in adult congenital heart disease (ConHD) patients in Taiwan. Methods From the National Health Insurance Research Database (1997-2010), adult patients (≥18 years) with ConHD were identified and compared to non-ConHD control patients. The primary end point was the incidence of MACE. Cox proportional hazards models were used to compute hazard ratios as estimates for multivariate adjusted relative risks with or without adjusting for age and sex. Results A total of 3,267 adult patients with ConHD were identified between 2000 and 2003 with a median follow-up of 11 years till December 31, 2010. The five most common types of ConHD were atrial septal defects, ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, and pulmonary stenosis. Overall, the incidence of MACE was 4.0-fold higher in the ConHD group compared with the controls. After adjustment for age and gender, the patients with ConHD had an increased risk of heart failure, malignant dysrhythmia, acute coronary syndrome, and stroke. The adult ConHD patients had a decreased life-long risk of MACE if they received surgical correction, especially in the patients with atrial septal defects. Conclusions After a median of 11 years of follow-up, the Taiwanese patients with ConHD were at an increased risk of life-long cardiovascular MACE, including heart failure, stroke, acute coronary syndrome, and malignant dysrhythmia. Surgical correction may help to decrease long-term MACE in ConHD patients, especially those with ASD. PMID:24655794

  16. Outcome of Extremely Low Birth Weight Infants with Congenital Heart Defects in the Eunice Kennedy Shriver NICHD Neonatal Research Network

    PubMed Central

    Pappas, Athina; Shankaran, Seetha; Hansen, Nellie I.; Bell, Edward F.; Stoll, Barbara J.; Laptook, Abbot R.; Walsh, Michele C.; Das, Abhik; Bara, Rebecca; Hale, Ellen C.; Newman, Nancy S.; Boghossian, Nansi S.; Murray, Jeffrey C.; Cotten, C. Michael; Adams-Chapman, Ira; Hamrick, Shannon; Higgins, Rosemary D.

    2013-01-01

    Little is known about the outcomes of extremely low birth weight (ELBW) preterm infants with congenital heart defects (CHDs). The aim of this study was to assess the mortality, morbidity, and early childhood outcomes of ELBW infants with isolated CHD compared with infants with no congenital defects. Participants were 401–1,000 g infants cared for at National Institute of Child Health and Human Development Neonatal Research Network centers between January 1, 1998 and December 31, 2005. Neonatal morbidities and 18–22 months’ corrected age outcomes were assessed. Neurodevelopmental impairment (NDI) was defined as moderate to severe cerebral palsy, Bayley II mental or psychomotor developmental index < 70, bilateral blindness, or hearing impairment requiring aids. Poisson regression models were used to estimate relative risks for outcomes while adjusting for gestational age, small for gestational-age status, and other variables. Of 14,457 ELBW infants, 110 (0.8 %) had isolated CHD, and 13,887 (96 %) had no major birth defect. The most common CHD were septal defects, tetralogy of Fallot, pulmonary valve stenosis, and coarctation of the aorta. Infants with CHD experienced increased mortality (48 % compared with 35 % for infants with no birth defect) and poorer growth. Surprisingly, the adjusted risks of other short-term neonatal morbidities associated with prematurity were not significantly different. Fifty-seven (52 %) infants with CHD survived to 18–22 months’ corrected age, and 49 (86 %) infants completed follow-up. A higher proportion of surviving infants with CHD were impaired compared with those without birth defects (57 vs. 38 %, p = 0.004). Risk of death or NDI was greater for ELBW infants with CHD, although 20% of infants survived without NDI. PMID:22644414

  17. Variation in Outcomes for Risk-Stratified Pediatric Cardiac Surgical Operations: An Analysis of the STS Congenital Heart Surgery Database

    PubMed Central

    Jacobs, Jeffrey Phillip; O'Brien, Sean M.; Pasquali, Sara K.; Jacobs, Marshall Lewis; Lacour-Gayet, François G.; Tchervenkov, Christo I.; Austin III, Erle H.; Pizarro, Christian; Pourmoghadam, Kamal K.; Scholl, Frank G.; Welke, Karl F.; Gaynor, J. William; Clarke, David R.; Mayer, John E.; Mavroudis, Constantine

    2013-01-01

    Background. We evaluated outcomes for groups of risk-stratified operations in The Society of Thoracic Surgeons Congenital Heart Surgery Database to provide contemporary benchmarks and examine variation between centers. Methods. Patients undergoing surgery from 2005 to 2009 were included. Centers with more than 10% missing data were excluded. Discharge mortality and postoperative length of stay (PLOS) among patients discharged alive were calculated for groups of risk-stratified operations using the five Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery Congenital Heart Surgery mortality categories (STAT Mortality Categories). Power for analyzing between-center differences in outcome was determined for each STAT Mortality Category. Variation was evaluated using funnel plots and Bayesian hierarchical modeling. Results. In this analysis of risk-stratified operations, 58,506 index operations at 73 centers were included. Overall discharge mortality (interquartile range among programs with more than 10 cases) was as follows: STAT Category 1 = 0.55% (0% to 1.0%), STAT Category 2 = 1.7% (1.0% to 2.2%), STAT Category 3 = 2.6% (1.1% to 4.4%), STAT Category 4 = 8.0% (6.3% to 11.1%), and STAT Category 5 = 18.4% (13.9% to 27.9%). Funnel plots with 95% prediction limits revealed the number of centers characterized as outliers by STAT Mortality Categories was as follows: Category 1 = 3 (4.1%), Category 2 = 1 (1.4%), Category 3 = 7 (9.7%), Category 4 = 13 (17.8%), and Category 5 = 13 (18.6%). Between-center variation in PLOS was analyzed for all STAT Categories and was greatest for STAT Category 5 operations. Conclusions. This analysis documents contemporary benchmarks for risk-stratified pediatric cardiac surgical operations grouped by STAT Mortality Categories and the range of outcomes among centers. Variation was greatest for the more complex operations. These data may aid in the design and planning of quality assessment and quality improvement

  18. Cardiac catheterization in children with pulmonary hypertensive vascular disease: consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces.

    PubMed

    Del Cerro, Maria Jesus; Moledina, Shahin; Haworth, Sheila G; Ivy, Dunbar; Al Dabbagh, Maha; Banjar, Hanaa; Diaz, Gabriel; Heath-Freudenthal, Alexandria; Galal, Ahmed Nasser; Humpl, Tilman; Kulkarni, Snehal; Lopes, Antonio; Mocumbi, Ana Olga; Puri, G D; Rossouw, Beyra; Harikrishnan, S; Saxena, Anita; Udo, Patience; Caicedo, Lina; Tamimi, Omar; Adatia, Ian

    2016-03-01

    Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD. PMID:27076908

  19. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.

    PubMed

    Mackenroth, Luisa; Hackmann, Karl; Klink, Barbara; Weber, Julia Sara; Mayer, Brigitte; Schröck, Evelin; Tzschach, Andreas

    2016-09-01

    Interstitial deletions including chromosome region 1q23.3q24.1 are rare. Only eight patients with molecularly characterized deletions have been reported to date. Their phenotype included intellectual disability/developmental delay, growth retardation, microcephaly, congenital heart disease, and renal malformations. We report on a female patient with mild developmental delay, congenital heart disease, and bilateral renal hypoplasia in whom an interstitial de novo deletion of approximately 2.7 Mb in 1q23.3q24.1 was detected by array CGH. This is the smallest deletion described in this region so far. Genotype-phenotype comparison with previously published patients allowed us to propose LMX1A and RXRG as potential candidate genes for intellectual disability, PBX1 as a probable candidate gene for renal malformation, and enabled us to narrow down a chromosome region associated with microcephaly. © 2016 Wiley Periodicals, Inc. PMID:27255444

  20. Cardiac catheterization in children with pulmonary hypertensive vascular disease: consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces

    PubMed Central

    del Cerro, Maria Jesus; Moledina, Shahin; Haworth, Sheila G.; Ivy, Dunbar; Al Dabbagh, Maha; Banjar, Hanaa; Diaz, Gabriel; Heath-Freudenthal, Alexandria; Galal, Ahmed Nasser; Humpl, Tilman; Kulkarni, Snehal; Lopes, Antonio; Mocumbi, Ana Olga; Puri, G. D.; Rossouw, Beyra; Harikrishnan, S.; Saxena, Anita; Udo, Patience; Caicedo, Lina; Tamimi, Omar

    2016-01-01

    Abstract Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD. PMID:27076908

  1. A Striking Coronary Artery Pattern in a Grown-Up Congenital Heart Disease Patient

    PubMed Central

    Iacovelli, Fortunato; Pepe, Martino; Contegiacomo, Gaetano; Alberotanza, Vito; Masi, Filippo; Bortone, Alessandro Santo; Favale, Stefano

    2016-01-01

    Left ventricular noncompaction (LVNC) is a myocardial disorder probably due to the arrest of normal embryogenesis of the left ventricle. It could be isolated or associated with other extracardiac and cardiac abnormalities, including coronary artery anomalies. Despite the continuous improvement of imaging resolution quality, this cardiomyopathy still remains frequently misdiagnosed, especially if associated with other heart diseases. We report a case of LVNC association with both malposition of the great arteries and a very original coronary artery pattern. PMID:26881144

  2. Investigating developmental cardiovascular biomechanics and the origins of congenital heart defects

    PubMed Central

    Kowalski, William J.; Pekkan, Kerem; Tinney, Joseph P.; Keller, Bradley B.

    2014-01-01

    Innovative research on the interactions between biomechanical load and cardiovascular (CV) morphogenesis by multiple investigators over the past 3 decades, including the application of bioengineering approaches, has shown that the embryonic heart adapts both structure and function in order to maintain cardiac output to the rapidly growing embryo. Acute adaptive hemodynamic mechanisms in the embryo include the redistribution of blood flow within the heart, dynamic adjustments in heart rate and developed pressure, and beat to beat variations in blood flow and vascular resistance. These biomechanically relevant events occur coincident with adaptive changes in gene expression and trigger adaptive mechanisms that include alterations in myocardial cell growth and death, regional and global changes in myocardial architecture, and alterations in central vascular morphogenesis and remodeling. These adaptive mechanisms allow the embryo to survive these biomechanical stresses (environmental, maternal) and to compensate for developmental errors (genetic). Recent work from numerous laboratories shows that a subset of these adaptive mechanisms is present in every developing multicellular organism with a “heart” equivalent structure. This chapter will provide the reader with an overview of some of the approaches used to quantify embryonic CV functional maturation and performance, provide several illustrations of experimental interventions that explore the role of biomechanics in the regulation of CV morphogenesis including the role of computational modeling, and identify several critical areas for future investigation as available experimental models and methods expand. PMID:25374544

  3. Impact of Exercise Training in Aerobic Capacity and Pulmonary Function in Children and Adolescents After Congenital Heart Disease Surgery: A Systematic Review with Meta-analysis.

    PubMed

    Gomes-Neto, Mansueto; Saquetto, Micheli Bernardone; da Silva e Silva, Cassio Magalhães; Conceição, Cristiano Sena; Carvalho, Vitor Oliveira

    2016-02-01

    The aim of the study was to examine the effects of exercise training on aerobic capacity and pulmonary function in children and adolescents after congenital heart disease surgery. We searched MEDLINE, Cochrane Controlled Trials Register, EMBASE, (from the earliest date available to January 2015) for controlled trials that evaluated the effects of exercise training on aerobic capacity and pulmonary function (forced expiratory volume in 1 s and forced vital capacity) in children and adolescents after congenital heart disease surgery. Weighted mean differences and 95 % confidence intervals (CIs) were calculated,, and heterogeneity was assessed using the I (2) test. Eight trials (n = 292) met the study criteria. The results suggested that exercise training compared with control had a positive impact on peak VO2. Exercise training resulted in improvement in peak VO2 weighted mean difference (3.68 mL kg(-1) min(-1), 95 % CI 1.58-5.78). The improvement in forced expiratory volume in 1 s and forced vital capacity after exercise training was not significant. Exercise training may improve peak VO2 in children and adolescents after congenital heart disease surgery and should be considered for inclusion in cardiac rehabilitation. Further larger randomized controlled trials are urgently needed to investigate different types of exercise and its effects on the quality of life. PMID:26396114

  4. Serum NT-proBNP Levels Are Not Related to Vitamin D Status in Young Patients with Congenital Heart Defects

    PubMed Central

    Passeri, E.; Rigolini, R.; Costa, E.; Verdelli, C.; Arcidiacono, C.; Carminati, M.; Corbetta, S.

    2016-01-01

    Context. Hypovitaminosis D frequently occurs in early life and increases with age. Vitamin D has been suggested to influence cardiac performance and N-terminal-pro-type B natriuretic peptide (NT-proBNP) release in adults with heart failure. Objectives. To assess the vitamin D status and the impact of hypovitaminosis D on circulating NT-proBNP levels in young patients with congenital heart defects (CHD). Design and Patients. This cross-sectional study included the assessment of serum 25-hydroxyvitamin D (25OHD), parathyroid function markers, and NT-proBNP levels in a series of 230 young in-patients (117 females, 113 males; 6.4 (4.0–9.1) years (median, interquartile range)) with CHD. Results. Serum 25OHD levels <20 ng/mL were detected in 55.3% of patients. Optimal 25OHD levels (>30 ng/mL) occurred in 25% of patients. Serum 25OHD levels inversely correlated with age (r = −0.169, P = 0.013) and height standard deviation score (r = −0.269, P = 0.001). After correction for age, 25OHD negatively correlated with serum PTH levels (β = −0.200, P = 0.002). PTH levels above the upper quartile (44 pg/mL) occurred in 32% of hypovitaminosis D patients. Serum NT-proBNP levels were not correlated with 25OHD and PTH levels. Conclusions. Half of the young CHD patients were diagnosed with 25OHD deficiency and a third of hypovitaminosis D patients experienced hyperparathyroidism. Nonetheless, serum NT-proBNP levels were not associated with hypovitaminosis D as well as hyperparathyroidism. PMID:26955207

  5. Incidences and sociodemographics of specific congenital heart diseases in the United States of America: an evaluation of hospital discharge diagnoses.

    PubMed

    Egbe, Alexander; Uppu, Santosh; Stroustrup, Annemarie; Lee, Simon; Ho, Deborah; Srivastava, Shubhika

    2014-08-01

    Current estimates of the incidence of congenital heart disease (CHD) are derived from small clinical studies and metaanalyses. For the true incidence of CHD in the United States of America to be estimated, a single large representative population must be analyzed. All the data in this study were derived from the Nationwide Inpatient Sample database. The study determined the overall and lesion-specific incidences of CHD diagnoses among all birth hospitalizations in 2008, stratified by race, gender, socioeconomic status, and hospital geographic location. The study identified 13,093 CHD diagnoses among 1,204,887 birth hospitalizations, yielding an incidence of 10.8 per 1,000, with a predominance of mild lesions and septal defects. Atrial septal defect (ASD) and pulmonic stenosis were more common among females, whereas aortic stenosis, coarctation of the aorta, hypoplastic left heart syndrome, and d-transposition of great arteries were more common among males. No racial difference was observed in the overall CHD incidence. However, isolated patent ductus arteriosus (PDA) and ventricular septal defects (VSDs) were more common among Caucasians, whereas ASDs were more common among Hispanics. The incidences of CHD diagnoses were similar for all socioeconomic classes except the lowest socioeconomic class, which had a significantly lower CHD incidence. There was no geographic or seasonal variation in CHD incidence. This study demonstrated the incidence of echocardiographically confirmed CHD diagnosis to be 10.8 per 1,000 live births, marked by a high proportion of mild cardiac lesions and isolated PDAs. The high incidence of isolated PDAs in this study may be explained by the inclusion of only CHD diagnoses during birth hospitalization. PMID:24563074

  6. Successful thrombolysis following enoxaparin therapy in two pediatric patients with congenital heart disease presenting with intracardiac and cerebral thrombosis

    PubMed Central

    2014-01-01

    Enoxaparin displays fibrinolytic activity through stimulation of endothelial release of tissue plasminogen activator. Moreover, enoxaparin increases the release of tissue factor pathway inhibitor, which inhibits coagulation activity. However, there are only few reports regarding the use of enoxaparin for the treatment of children with thrombosis complicating congenital heart disease. We report the clinical findings from two patients, one child with an A. cerebri media infarction and another with a left ventricular thrombus. In both cases successful thrombolysis was obtained by intravenous administration of enoxaparin. The first patient was a 12-year-old girl with an atrioventricular septal defect, who underwent biventricular repair at the age of 8 months. She presented with right-sided middle cerebral artery infarction. Thrombolysis was contraindicated, because she was beyond the therapeutic window recommended by accepted guidelines. Enoxaparin 2.5 mg/kg/d was administered as a continuous intravenous infusion (CII). The MRI 10 days later revealed a reopened middle cerebral artery and she experienced complete remission of the neurological signs. The second patient was a 16-year-old boy who had tetralogy of Fallot corrected in late infancy. He presented with severe heart failure and a mural thrombus in the left ventricular apex. Enoxaparin was administered and resulted in complete disappearance of the thrombus within a week. According to our experience, CII of enoxaparin was safe and well tolerated without secondary bleeding and resulted in complete dissolution of the thrombi without secondary embolization. Therefore, CII of enoxaparin may be a possible alternative for the treatment of thrombotic complications in children with contraindications against conventional thrombolytic therapy. PMID:25278813

  7. Effect of esmolol on myocardial protection in pediatrics congenital heart defects

    PubMed Central

    Fazelifar, Saeed; Bigdelian, Hamid

    2015-01-01

    Background: Although it is accepted that inducing cardioplegia is the gold standard in myocardial protection, there is still no consensus on the exact type of the cardioplegia. There are fewer studies on the type of the cardioplegia in hearts of the children than adults and they are contradictory. The effects of esmolol have been reviewed (a type of ultrashort-acting beta-adrenergic antagonist, i.e., ß-blockers) in conjunction with the cardioplegia due to the effect of the β-blockers in reducing the myocardial ischemia and reperfusion. Materials and Methods: The left ventricle ejection fraction (LVEF), systolic blood pressure, central venous pressure (CVP), heart rate, etc., were recorded separately in patients who received the cardioplegia without esmolol (n = 35) and with esmolol (n = 30) and matched for the age and sex. Results: The amount of inotrope used in the group without esmolol (100%) was considerably higher than in the group with esmolol (86.7%). Postoperative arrhythmias did not differ significantly between the two groups. There was no significant difference in the duration of cardiopulmonary bypass (CPB), time of the extubation, length of the ICU stay, the first day EF after surgery, and the first week EF after surgery as well. Creatinine kinase-MB (CKMB) was significantly higher in the group without esmolol during operation than in the group with esmolol. Conclusions: The patients who received cardioplegia along with esmolol had less inotropic requirement after operation, and increase in EF and cardiac output (CO) 1 week after surgery. In addition, it reduced damage to the heart during surgery, and patients may have greater stability in the cardiac conduction system. PMID:26693471

  8. Bringing Antonovsky's salutogenic theory to life: A qualitative inquiry into the experiences of young people with congenital heart disease

    PubMed Central

    Apers, Silke; Rassart, Jessica; Luyckx, Koen; Oris, Leen; Goossens, Eva; Budts, Werner; Moons, Philip

    2016-01-01

    Objective Antonovsky coined sense of coherence (SOC) as the central concept of his salutogenic theory focusing on the origins of well-being. SOC captures the degree to which one perceives the world as comprehensible, manageable, and meaningful. Life events and resources are considered to be the building blocks of a person's SOC. However, mainly quantitative studies have looked into the role of life events and resources. Therefore, the present study aims to gain a deeper insight into the experiences of patients with congenital heart disease (CHD) regarding resources and life events. Method For this qualitative study, patients were selected from the sample of a preceding study on development of SOC (n = 429). In total, 12 young individuals with CHD who had either a weak (n = 6) or strong SOC (n = 6) over time were interviewed (8 women, median age of 20 years). Data analysis was based on the constant comparative method as detailed in the Qualitative Analysis Guide of Leuven. Commonalities and differences between patients from both groups were explored. Results The following themes emerged: (1) self-concept; (2) social environment; (3) daytime activities; (4) life events and disease-related turning points; (5) stress and coping; and (6) illness integration. Additionally, the degree of personal control was identified as an overarching topic that transcended the other themes when comparing both groups of patients. Conclusion These results may have implications for the structure and content of interventions improving well-being in young people with CHD. PMID:26942908

  9. Cardiac imaging of congenital heart diseases during interventional procedures continues to evolve: Pros and cons of the main techniques.

    PubMed

    Hascoët, Sebastien; Warin-Fresse, Karine; Baruteau, Alban-Elouen; Hadeed, Khaled; Karsenty, Clement; Petit, Jérôme; Guérin, Patrice; Fraisse, Alain; Acar, Philippe

    2016-02-01

    Cardiac catheterization has contributed to the progress made in the management of patients with congenital heart disease (CHD). First, it allowed clarification of the diagnostic assessment of CHD, by offering a better understanding of normal cardiac physiology and the pathophysiology and anatomy of complex malformations. Then, it became an alternative to surgery and a major component of the therapeutic approach for some CHD lesions. Nowadays, techniques have evolved and cardiac catheterization is widely used to percutaneously close intracardiac shunts, to relieve obstructive valvar or vessel lesions, and for transcatheter valve replacement. Accurate imaging is mandatory to guide these procedures. Cardiac imaging during catheterization of CHD must provide accurate images of lesions, surrounding cardiac structures, medical devices and tools used to deliver them. Cardiac imaging has to be 'real-time' with an excellent temporal resolution to ensure 'eyes-hands' synchronization and 'device-target area' accurate positioning. In this comprehensive review, we provide an overview of conventional cardiac imaging tools used in the catheterization laboratory in daily practice, as well as the effect of recent evolution and future imaging modalities. PMID:26858142

  10. Modification of the association between maternal smoke exposure and congenital heart defects by polymorphisms in glutathione S-transferase genes.

    PubMed

    Li, Xiaohong; Liu, Zhen; Deng, Ying; Li, Shengli; Mu, Dezhi; Tian, Xiaoxian; Lin, Yuan; Yang, Jiaxiang; Li, Jun; Li, Nana; Wang, Yanping; Chen, Xinlin; Deng, Kui; Zhu, Jun

    2015-01-01

    Congenital heart defects (CHDs) arise through various combinations of genetic and environmental factors. Our study explores how polymorphisms in the glutathione S-transferase (GST) genes affect the association between cigarette smoke exposure and CHDs. We analysed 299 mothers of children with CHDs and 284 mothers of children without any abnormalities who were recruited from six hospitals. The hair nicotine concentration (HNC) was used to quantify maternal smoke exposure, and the maternal GSTT1, and GSTM1 and GSTP1 genes were sequenced. We found a trend of higher adjusted odds ratios with higher maternal HNC levels, suggesting a dose-response relationship between maternal smoke exposure and CHDs. The lowest HNC range associated with an increased risk of CHDs was 0.213-0.319 ng/mg among the mothers with functional deletions of GSTM1 or GSTT1and 0.319-0.573 ng/mg among the mothers with normal copies of GSTM1 and GSTT1. In addition, the adjusted odds ratio for an HNC of >0.573 ng/mg was 38.53 among the mothers with the GSTP1 AG or GG genotype, which was 7.76 (χ(2) = 6.702, p = 0.010) times greater than the AOR in the mothers with GSTP1 AA genotype. Our study suggests that polymorphisms of maternal GST genes may modify the association of maternal smoke exposure with CHDs. PMID:26456689

  11. Association Between Sequence Variations in RCAN1 Promoter and the Risk of Sporadic Congenital Heart Disease in a Chinese Population.

    PubMed

    Li, Xiaoyong; Wang, Gang; An, Yong; Li, Hongbo; Li, Yonggang; Wu, Chun

    2015-10-01

    The pathogenesis of congenital heart disease (CHD) is unclear. There is a high incidence of CHD in Down syndrome, in which RCAN1 (regulator of calcineurin 1) overexpression is observed. However, whether RCAN1 plays an important role in non-syndromic CHD is unknown. This study investigates the relationship between sequence variations in the RCAN1 promoter and sporadic CHD. This was a case-control study in which the RCAN1 promoter was cloned and sequenced in 128 CHD patients (median age 1.1 year) and 150 normal controls (median age 3.0 year). No mutation sites had been identified in this research. Three single-nucleotide (C to T) polymorphisms were detected: rs193289374, rs149048873 and rs143081213. The polymorphisms were not associated with CHD risk according to a logistic regression analysis. Functional assays in vitro showed that compared with the wild-type genotype, the rs149048873 polymorphism decreased, and the rs143081213 increased, the RCAN1 promoter activity, though the rs193289374 polymorphism had no effect. In conclusion, the sequence variations in RCAN1 promoter are not major genetic factors involved in sporadic CHD, at least in the current research population. PMID:25863471

  12. Acute onset of bilateral visual loss during sildenafil therapy in a young infant with congenital heart disease

    PubMed Central

    Gaffuri, Marcella; Cristofaletti, Alessandra; Mansoldo, Caterina; Biban, Paolo

    2014-01-01

    We report a case of posterior non-arteritic ischaemic optic neuropathy (NAION) causing bilateral visual loss in a 7-month-old female infant, after a therapeutic course with sildenafil, a phosphodiesterase type 5 inhibitors (PDE5i). The patient was affected by a complex cyanotic congenital heart defect and had undergone cavopulmonary anastomosis (Glenn operation) 3 months ago. After 2 months of recurring chylothorax, a course of oral sildenafil was administered, with the hypothesis that pulmonary vascular resistances were increased. Approximately 4 weeks later the acute onset of visual worsening and poor pupillary light reflex prompted the diagnosis of posterior NAION. Despite a rapid cessation of PDE5i and systemic treatment with corticosteroids, no visual recovery was noticed at 2-year follow-up. NAION has been associated with PDE5i therapy in adults, but to the best of our knowledge it is almost unheard of in children. We suggest close monitoring of visual function in children undergoing treatment with sildenafil. PMID:24895393

  13. Comprehensive maternal serum proteomics identifies the cytoskeletal proteins as non-invasive biomarkers in prenatal diagnosis of congenital heart defects

    PubMed Central

    Chen, Lizhu; Gu, Hui; Li, Jun; Yang, Ze-Yu; Sun, Xiao; Zhang, Li; Shan, Liping; Wu, Lina; Wei, Xiaowei; Zhao, Yili; Ma, Wei; Zhang, Henan; Cao, Songying; Huang, Tianchu; Miao, Jianing; Yuan, Zhengwei

    2016-01-01

    Congenital heart defects (CHDs) are the most common group of major birth defects. Presently there are no clinically used biomarkers for prenatally detecting CHDs. Here, we performed a comprehensive maternal serum proteomics assessment, combined with immunoassays, for the discovery of non-invasive biomarkers for prenatal diagnosis of CHDs. A total of 370 women were included in this study. An isobaric tagging for relative and absolute quantification (iTRAQ) proteomic approach was used first to compare protein profiles in pooled serum collected from women who had CHD-possessing or normal fetuses, and 47 proteins displayed significant differential expressions. Targeted verifications were performed on 11 proteins using multiple reaction monitoring mass spectrometry (MRM-MS), and the resultant candidate biomarkers were then further validated using ELISA analysis. Finally, we identified a biomarker panel composed of 4 cytoskeletal proteins capable of differentiating CHD-pregnancies from normal ones [with an area under the receiver operating characteristic curve (AUC) of 0.938, P < 0.0001]. The discovery of cytoskeletal protein changes in maternal serum not only could help us in prenatal diagnosis of CHDs, but also may shed new light on CHD embryogenesis studies. PMID:26750556

  14. Comparison of Computed Tomography and Cineangiography in the Demonstration of Central Pulmonary Arteries in Cyanotic Congenital Heart Disease

    SciTech Connect

    Taneja, Karuna; Sharma, Sanjiv; Kumar, Krishan; Rajani, Mira

    1996-03-15

    Purpose: To assess the diagnostic accuracy of contrast-enhanced computed tomography (CT) for central pulmonary artery pathology in patients with cyanotic congenital heart disease (CCHD) and right ventricular outflow obstruction. Methods: We compared contrast-enhanced CT and cine pulmonary arteriography in 24 patients with CCHD to assess central pulmonary arteries including the confluence. Both investigations were interpreted by a cardiac radiologist in a double-blinded manner at an interval of 3 weeks. Angiography was used as the gold standard for comparison. Results: The sensitivity for visualization of main pulmonary artery (MPA), right pulmonary artery (RPA), left pulmonary artery (LPA), and confluence on CT was 94%, 100%, 92.8%, and 92.8%, respectively. Diagnostic specificity for the same entities was 28.5%, 100%, 80%, and 50%, respectively. The positive predictive value for each was 76.2%, 100%, 94.1%, and 72.2%, respectively. The low specificity of CT in the evaluation of the MPA and the confluence is perhaps due to distorted right ventricular outflow anatomy in CCHD. Large aortopulmonary collaterals in this region were mistaken for the MPA in some patients with pulmonary atresia. Conclusion: CT is a useful, relatively noninvasive, imaging technique for the central pulmonary arteries in selected patients. It can supplement diagnostic information from angiography but cannot replace it. LPA demonstration on axial images alone is inadequate.

  15. Lung beta-adrenoceptors in pulmonary hypertension. A study of biopsy specimens in children with congenital heart disease

    SciTech Connect

    Lopes, A.A.; Liberato, M.H.; Brentani, M.M.; Aiello, V.D.; Riso, A.A.; Ebaid, M. )

    1991-03-01

    Characteristics of beta-adrenoceptors were analyzed using radioligand-binding techniques with 3H-dihydroalprenolol in lung specimens from 11 children with pulmonary hypertension (median age, three years) undergoing surgical repair of congenital heart defects and four pediatric control subjects (median age, five years) undergoing thoracotomy for removal of neoplasms or cysts. Scatchard analysis of 3H-DHA binding to lung membranes showed similar values of the dissociation constant in both groups (Kd = 0.72 +/- 0.22 nM in patients vs 1.22 +/- 0.22 nM in controls; p = NS). The receptor density was significantly increased in patients in comparison with controls, with respective values of 164 +/- 19 and 95 +/- 13 fmol/mg of protein (p less than 0.025), and correlated directly with mean pulmonary arterial pressure (r = 0.82; p less than 0.0005). No significant relationship was observed between receptor number and pulmonary arterial medial thickness. Thus, the increase in receptor density in these patients may be related to adaptative changes in cells other than vascular smooth muscle.

  16. Modification of the association between maternal smoke exposure and congenital heart defects by polymorphisms in glutathione S-transferase genes

    PubMed Central

    Li, Xiaohong; Liu, Zhen; Deng, Ying; Li, Shengli; Mu, Dezhi; Tian, Xiaoxian; Lin, Yuan; Yang, Jiaxiang; Li, Jun; Li, Nana; Wang, Yanping; Chen, Xinlin; Deng, Kui; Zhu, Jun

    2015-01-01

    Congenital heart defects (CHDs) arise through various combinations of genetic and environmental factors. Our study explores how polymorphisms in the glutathione S-transferase (GST) genes affect the association between cigarette smoke exposure and CHDs. We analysed 299 mothers of children with CHDs and 284 mothers of children without any abnormalities who were recruited from six hospitals. The hair nicotine concentration (HNC) was used to quantify maternal smoke exposure, and the maternal GSTT1, and GSTM1 and GSTP1 genes were sequenced. We found a trend of higher adjusted odds ratios with higher maternal HNC levels, suggesting a dose-response relationship between maternal smoke exposure and CHDs. The lowest HNC range associated with an increased risk of CHDs was 0.213–0.319 ng/mg among the mothers with functional deletions of GSTM1 or GSTT1and 0.319–0.573 ng/mg among the mothers with normal copies of GSTM1 and GSTT1. In addition, the adjusted odds ratio for an HNC of >0.573 ng/mg was 38.53 among the mothers with the GSTP1 AG or GG genotype, which was 7.76 (χ2 = 6.702, p = 0.010) times greater than the AOR in the mothers with GSTP1 AA genotype. Our study suggests that polymorphisms of maternal GST genes may modify the association of maternal smoke exposure with CHDs. PMID:26456689

  17. Enterococcus faecium Mediastinitis Complicated by Disseminated Candida parapsilosis Infection after Congenital Heart Surgery in a 4-Week-Old Baby.

    PubMed

    Renk, Hanna; Neunhoeffer, Felix; Hölzl, Florian; Hofbeck, Michael; Kumpf, Matthias

    2015-01-01

    Background. Cardiac surgery offers multiple treatment options for children with congenital heart defects. However, infectious complications still remain a major cause of morbidity and mortality in these patients. Mediastinitis is a detrimental complication in children undergoing cardiac surgery. The risk of mediastinitis after delayed sternal closure is up to 10%. Case Presentation. We report a case of Enterococcus faecium mediastinitis in a 4-week-old female baby on extracorporeal membrane oxygenation after Norwood procedure. Although repeated antibiotic irrigation, debridement, and aggressive antibiotic treatment were started early, the pulmonary situation deteriorated. Candida parapsilosis was isolated from bronchoalveolar lavage after pulmonary hemorrhage. Disseminated C. parapsilosis infection with pulmonary involvement was treated with liposomal amphotericin B. Subsequently, inflammatory markers increased again and eventually C. parapsilosis was isolated from the central venous catheter. Conclusion. Children undergoing delayed sternal closure have a higher risk of mediastinitis. Therefore, antibiotic prophylaxis, for example, for soft tissue infection seems justified. However, long-term antibiotic treatment is a risk factor for fungal superinfection. Antifungal treatment of disseminated C. parapsilosis infection may fail in PICU patients with nonbiological material in place due to capacity of this species to form biofilms on medical devices. Immediate removal of central venous catheters and other nonbiological material is life-saving in these patients. PMID:26605096

  18. Enterococcus faecium Mediastinitis Complicated by Disseminated Candida parapsilosis Infection after Congenital Heart Surgery in a 4-Week-Old Baby

    PubMed Central

    Renk, Hanna; Neunhoeffer, Felix; Hölzl, Florian; Hofbeck, Michael; Kumpf, Matthias

    2015-01-01

    Background. Cardiac surgery offers multiple treatment options for children with congenital heart defects. However, infectious complications still remain a major cause of morbidity and mortality in these patients. Mediastinitis is a detrimental complication in children undergoing cardiac surgery. The risk of mediastinitis after delayed sternal closure is up to 10%. Case Presentation. We report a case of Enterococcus faecium mediastinitis in a 4-week-old female baby on extracorporeal membrane oxygenation after Norwood procedure. Although repeated antibiotic irrigation, debridement, and aggressive antibiotic treatment were started early, the pulmonary situation deteriorated. Candida parapsilosis was isolated from bronchoalveolar lavage after pulmonary hemorrhage. Disseminated C. parapsilosis infection with pulmonary involvement was treated with liposomal amphotericin B. Subsequently, inflammatory markers increased again and eventually C. parapsilosis was isolated from the central venous catheter. Conclusion. Children undergoing delayed sternal closure have a higher risk of mediastinitis. Therefore, antibiotic prophylaxis, for example, for soft tissue infection seems justified. However, long-term antibiotic treatment is a risk factor for fungal superinfection. Antifungal treatment of disseminated C. parapsilosis infection may fail in PICU patients with nonbiological material in place due to capacity of this species to form biofilms on medical devices. Immediate removal of central venous catheters and other nonbiological material is life-saving in these patients. PMID:26605096

  19. Investigating alcohol-induced congenital heart defects using optical coherence tomography (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Gu, Shi; Peterson, Lindsy M.; Ma, Pei; Karunamuni, Ganga; Watanabe, Michiko; Jenkins, Michael W.; Rollins, Andrew M.

    2016-03-01

    Fetal alcohol syndrome commonly results in neurological and craniofacial defects, additionally, as high as 54% of live-born children with this syndrome also possess cardiac abnormalities. We have previously shown that CNCC-ablated embryos exhibit similar structural and functional phenotypes as ethanol-exposed embryos. Here, we present progress on two fronts toward understanding the association between CNCC dysfunction and FAS-related CHDs. We have developed a technique for measuring the thickness of the cardiac cushions throughout the heart. These values were then mapped onto a surface mesh of the myocardial wall for 3-D visualization. The cushions were observed to be significantly reduced in the outflow tract of CNCC-ablated embryos. We also observed a correlation between abnormal pulsed Doppler waveforms and increased separation of the atrioventricular inferior and superior cushions. This correlation between function and structure will enable rapid phenotyping of perturbed embryos. Finally, we present our preliminary results using methyl donors to rescue ethanol-exposed embryonic CHDs. Betaine was administered along with the ethanol injection to embryos at 21 hours of development. The embryos were then analyzed at day 8 for survival and heart morphology. The administration of betaine resulted in a significant increase in survival and normalization of atrioventricular valve leaflet volume and interventricular septum thickness.

  20. Evaluation of Heterogeneity in the Association between Congenital Heart Defects and Variants of Folate Metabolism Genes: Conotruncal and Left-Sided Cardiac Defects

    PubMed Central

    Long, Jin; Lupo, Philip J.; Goldmuntz, Elizabeth; Mitchell, Laura E.

    2011-01-01

    PURPOSE Genetic variation in the folate metabolic pathway may influence the risk of congenital heart defects. This study was undertaken to assess the associations between the inherited and maternal genotypes for variants in folate-related genes and the risk of a composite heart phenotype that included two component phenotypes: conotruncal heart defects (CTDs) and left-sided cardiac lesions (LSLs). METHODS Nine folate-related gene variants were evaluated using data from 692 case-parent triads (CTD, n=419; LSL, n=273). Log-linear analyses were used to test for heterogeneity of the genotype-phenotype association across the two component phenotypes (i.e. CTD and LSLS) and, when there was no evidence of heterogeneity, to assess the associations of the maternal and inherited genotypes with the composite phenotype. RESULTS There was little evidence of heterogeneity of the genotype-phenotype association across the two component phenotypes or of an association between the genotypes and the composite phenotype. There was evidence of heterogeneity in the association of the maternal MTR A2756G genotype (p = 0.01) with CTDs and LSLs. However, further analyses suggested that the observed associations with the maternal MTR A2756G genotype might be confounded by parental imprinting effects. CONCLUSIONS Our analyses of these data provide little evidence that the folate-related gene variants evaluated in this study influence the risk of this composite congenital heart defect phenotype. However, larger and more comprehensive studies that evaluate parent-of-origin effects, as well as additional folate-related genes, are required to more fully explore the relation between folate and congenital heart defects. PMID:21987465

  1. How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease

    PubMed Central

    Chin, Alvin J.; Saint-Jeannet, Jean-Pierre; Lo, Cecilia W.

    2012-01-01

    advancements in surgical and medical intensive care (Jacobs et al., 2011), may yet yield to strategies grounded in a better understanding of the cilium. The fact that all cardiac defects seen in patients with full-blown heterotaxy can also be seen in patients without obvious laterality defects hints at important roles for ciliary function not only in left-right axis specification but also in cardiovascular morphogenesis. These three developmental biology stories illustrate how the remaining unexplained mortality and morbidity of congenital heart disease can be solved. PMID:22640994

  2. Long-Term Outcome After Ablation of Right Atrial Tachyarrhythmias After the Surgical Repair of Congenital and Acquired Heart Disease.

    PubMed

    Anguera, Ignasi; Dallaglio, Paolo; Macías, Rosa; Jiménez-Candil, Javier; Peinado, Rafael; García-Seara, Javier; Arcocha, Mari Fe; Herreros, Benito; Quesada, Aurelio; Hernández-Madrid, Antonio; Alvarez, Miguel; Filgueiras, David; Matía, Roberto; Cequier, Angel; Sabaté, Xavier

    2015-06-15

    Atrial myopathy, atriotomies, and fibrotic scars are the pathophysiological substrate of lines of conduction block, promoting atrial macroreentry. The aim of this study was to determine the acute and long-term outcome of radiofrequency catheter ablation (RFCA) for right atrial tachyarrhythmia (AT) in adults after cardiac surgery for congenital heart disease (CHD) and acquired heart disease (AHD) and predictors of these outcomes. Clinical records of adults after surgery for heart disease undergoing RFCA of right-sided AT were analyzed retrospectively. Multivariate analyses identified clinical and procedural factors predicting acute and long-term outcomes. A total of 372 patients (69% men; age 61 ± 15 years) after surgical repair of CHD (n = 111) or AHD (n = 261) were studied. Cavotricuspid isthmus-dependent atrial flutter (CTI-AFL) was observed in 300 patients and non-CTI-AFL in 72 patients. Ablation was successful in 349 cases (94%). During a mean follow-up of 51 ± 30 months, recurrences were observed in 24.5% of patients. Multivariate analysis showed that non-CTI-AFL (hazard ratio [HR] 1.78, 95% confidence interval [CI] 1.1 to 2.9) and CHD (HR 1.75, 95% CI 1.07 to 2.9) were independent predictors of long-term recurrences. Multivariate analysis showed that female gender (HR 2.29, 95% CI 1.6 to 3.3), surgery for AHD (HR 95% 2.31, 95% CI 1.5 to 3.7), and left atrial dilatation (HR 2.1, 95% CI 1.3 to 3.2) were independent predictors of long-term atrial fibrillation. In conclusion, RFCA of right-sided AT after cardiac surgery is associated with high acute success rates and significant long-term recurrences. Non-CTI-dependent AFL and surgery for CHD are at higher risk of recurrence. Atrial fibrillation is common during follow-up, particularly in patients with AHD and enlarged left atrium. PMID:25896151

  3. Risk Factors for Increased Hospital Resource Utilization and In-Hospital Mortality in Adults With Single Ventricle Congenital Heart Disease.

    PubMed

    Collins, Ronnie Th