congenital heart defects


Summary: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.

Top Publications

  1. Øyen N, Poulsen G, Boyd H, Wohlfahrt J, Jensen P, Melbye M. Recurrence of congenital heart defects in families. Circulation. 2009;120:295-301 pubmed publisher
    ..We estimated an individual's risk of CHD given a family history of CHD, as well as the contribution of CHD family history to the total number of CHD cases in the population...
  2. Gilboa S, Correa A, Botto L, Rasmussen S, Waller D, Hobbs C, et al. Association between prepregnancy body mass index and congenital heart defects. Am J Obstet Gynecol. 2010;202:51.e1-51.e10 pubmed publisher
    The purpose of this study was to examine associations between prepregnancy body mass index (BMI) and congenital heart defects (CHDs)...
  3. Hobbs C, Cleves M, Karim M, Zhao W, MacLeod S. Maternal folate-related gene environment interactions and congenital heart defects. Obstet Gynecol. 2010;116:316-22 pubmed publisher
    ..Results indicate that functional polymorphisms in folate-related genes increase the risk of having a fetus with CHD when maternal lifestyle factors that alter folate metabolism are present. II. ..
  4. Huang Z, Chen J, Regan J, Maguire C, Tang R, Dong X, et al. Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects. Arterioscler Thromb Vasc Biol. 2010;30:2575-86 pubmed publisher
    b>Congenital heart defects represent the most common human birth defects. Even though the genetic cause of these syndromes has been linked to candidate genes, the underlying molecular mechanisms are still largely unknown...
  5. Thienpont B, Zhang L, Postma A, Breckpot J, Tranchevent L, Van Loo P, et al. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010;86:839-49 pubmed publisher
    b>Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25...
  6. Weijerman M, van Furth A, van der Mooren M, van Weissenbruch M, Rammeloo L, Broers C, et al. Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome. Eur J Pediatr. 2010;169:1195-9 pubmed publisher
    The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome (DS) and to assess its impact on neonatal factors...
  7. Liang J, Gui Y, Wang W, Gao S, Li J, Song H. Elevated glucose induces congenital heart defects by altering the expression of tbx5, tbx20, and has2 in developing zebrafish embryos. Birth Defects Res A Clin Mol Teratol. 2010;88:480-6 pubmed publisher
    Maternal diabetes increases the risk of congenital heart defects in infants, and hyperglycemia acts as a major teratogen...
  8. Wansleeben C, Feitsma H, Montcouquiol M, Kroon C, Cuppen E, Meijlink F. Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b. Development. 2010;137:1067-73 pubmed publisher
  9. Rochais F, Mesbah K, Kelly R. Signaling pathways controlling second heart field development. Circ Res. 2009;104:933-42 pubmed publisher
    Insight into the mechanisms underlying congenital heart defects and the use of stem cells for cardiac repair are major research goals in cardiovascular biology...

More Information


  1. Goldmuntz E, Woyciechowski S, Renstrom D, Lupo P, Mitchell L. Variants of folate metabolism genes and the risk of conotruncal cardiac defects. Circ Cardiovasc Genet. 2008;1:126-32 pubmed publisher
    Although congenital heart defects (CHD) are the most common and serious group of birth defects, relatively little is known about the causes of these conditions and there are no established prevention strategies...
  2. Grosse Wortmann L, Al Otay A, Yoo S. Aortopulmonary collaterals after bidirectional cavopulmonary connection or Fontan completion: quantification with MRI. Circ Cardiovasc Imaging. 2009;2:219-25 pubmed publisher
    ..APC blood flow can be noninvasively measured in bidirectional cavopulmonary connections and Fontan patients, using MRI in the majority of patients and results in a significant left-to-right shunt. ..
  3. Brandalize A, Bandinelli E, dos Santos P, Roisenberg I, Schuler Faccini L. Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. Am J Med Genet A. 2009;149A:2080-7 pubmed publisher
    ..of the methylenetetrahydrofolate reductase (MTHFR) as risk factors for the development of DS and congenital heart defects (CHD)...
  4. Wat M, Shchelochkov O, Holder A, Breman A, Dagli A, Bacino C, et al. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009;149A:1661-77 pubmed publisher
    ..describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genomic hybridization...
  5. Zhang W, Li X, Ma Z, Zhang J, Zhou S, Li T, et al. GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. Chin Med J (Engl). 2009;122:416-9 pubmed
    ..There were no reported NKX2.5 mutations in the patients. Our results provided the primary data on CHD phenotype associated with GATA4 mutation in the Chinese Uygur population. ..
  6. Selicorni A, Colli A, Passarini A, Milani D, Cereda A, Cerutti M, et al. Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet A. 2009;149A:1268-72 pubmed publisher
    b>Congenital heart defects (CHDs) have been estimated to occur in approximately 20% of patients with Brachmann-de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470)...
  7. Biner S, Rafique A, Ray I, Cuk O, Siegel R, Tolstrup K. Aortopathy is prevalent in relatives of bicuspid aortic valve patients. J Am Coll Cardiol. 2009;53:2288-95 pubmed publisher
    ..Screening of FDRs by transthoracic 2-dimensional echocardiography should be considered for detection of aortic valve malformation and dilated ascending aorta. ..
  8. McNally E, Dellefave L. Sarcomere mutations in cardiogenesis and ventricular noncompaction. Trends Cardiovasc Med. 2009;19:17-21 pubmed publisher
    ..These human genetic findings support that normal myocardial and sarcomere function are required for proper compaction and septation and that these mutations also portend a high risk of developing heart failure in later life...
  9. Loukanov T, Geiger R, Agrawal R. Animal models related to congenital heart disease and clinical research in pulmonary hypertension. Cardiology. 2010;116:18-25 pubmed publisher
    ..An elastase inhibitor is currently being investigated in phase I clinical trials in patients with PH owing to chronic obstructive pulmonary disease. ..
  10. Moiduddin N, Texter K, Zaidi A, Hershenson J, Stefaniak C, Hayes J, et al. Two-dimensional speckle strain and dyssynchrony in single right ventricles versus normal right ventricles. J Am Soc Echocardiogr. 2010;23:673-9 pubmed publisher
    ..Significant differences in strain analysis between single-RV patients and patients with biventricular physiology exist at a relatively young age. Future studies are needed to determine the clinical significance of these differences. ..
  11. Rocha I, Nogueira R, Carriço A. Non-compacted myocardium and foetal left isomerism as a hydrops' aetiology. Cardiol Young. 2010;20:223-5 pubmed publisher
    ..Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis. ..
  12. Zablah J, Misra N, Gruber D, Kholwadwala D, Epstein S. Comparison of Patients Undergoing Surgical Versus Transcatheter Pulmonary Valve Replacement: Criteria for Referral and Mid-Term Outcome. Pediatr Cardiol. 2017;38:603-607 pubmed publisher
    Pulmonary regurgitation and/or stenosis (PS) is challenging in patients with congenital heart defects. Our aim was to identify if criteria for referral were different between surgical (SPVR) and transcatheter pulmonary valve replacement (..
  13. Hrstka S, Li X, Nelson T. NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis. Stem Cells. 2017;35:1106-1119 pubmed publisher
    ..Stem Cells 2017;35:1106-1119. ..
  14. Rajagopal S, Emani S, Roy N, Westgate L, Bacha E. Acute kidney injury and regional abdominal perfusion during neonatal aortic arch reconstruction. J Thorac Cardiovasc Surg. 2010;140:453-8 pubmed publisher
    ..By providing direct visceral perfusion during surgery, this simple multisite perfusion technique may ameliorate acute kidney injury in these neonates. Further investigation of this technique is warranted. ..
  15. Nigam V, Sievers H, Jensen B, Sier H, Simpson P, Srivastava D, et al. Altered microRNAs in bicuspid aortic valve: a comparison between stenotic and insufficient valves. J Heart Valve Dis. 2010;19:459-65 pubmed
    ..MiR-26a, miR-30b, and miR-195 were each decreased in the aortic valves of patients requiring AVR due to AS, compared to those requiring replacement due to AI. These miRNAs appear to modulate calcification-related genes in vitro. ..
  16. Butera G, Piazza L, Saracino A, Chessa M, Carminati M. Transcatheter Closure of Membranous Ventricular Septal Defects-Old Problems and New Solutions. Interv Cardiol Clin. 2013;2:85-91 pubmed publisher
    ..Improvements in technology and design will help to reduce the occurrence of this problem in the near future. ..
  17. Nurden A. Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?. Blood Rev. 2017;31:287-299 pubmed publisher
    ..are rare, but other aspects of cardiovascular disease do occur including deep vein thrombosis and congenital heart defects. Thrombophilic and other risk factors for thrombosis and lessons from heterozygotes and variant forms of ..
  18. Williams W. Uses and limitations of registry and academic databases. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2010;13:66-70 pubmed publisher
    ..Frequent use of the database improves its accuracy. For congenital heart surgeons, routine use of a Registry Database is an essential component of clinical practice. ..
  19. Burnham N, Ittenbach R, Stallings V, Gerdes M, Zackai E, Bernbaum J, et al. Genetic factors are important determinants of impaired growth after infant cardiac surgery. J Thorac Cardiovasc Surg. 2010;140:144-9 pubmed publisher
    ..Persistent poor growth might have long-term implications for the health and development of children with congenital heart defects.
  20. Negoi R, Ghiorghiu I, Filipoiu F, Hostiuc M, Negoi I, Ginghina C. Severe pulmonary arterial hypertension associated with congenital cardiac shunts: evolution under specific treatment. J Med Life. 2017;10:131-138 pubmed
    ..008). Conclusions: Despite the complexity of CCS-PAH, with a complex constellation of underlying congenital heart defects, there are short-term benefits of a specific vasodilatory therapy.
  21. Griffiths L. Surgery for cardiac disease in small animals: current techniques. Vet Clin North Am Small Anim Pract. 2010;40:605-22 pubmed publisher
    ..Fortunately, lack of case load does not appear to be the limiting factor to such efforts. Rather, lacks of infrastructure and manpower are the major obstacles for expansion of cardiac surgical programs. ..
  22. Prefumo F, Guven M, Carvalho J. Single umbilical artery and congenital heart disease in selected and unselected populations. Ultrasound Obstet Gynecol. 2010;35:552-5 pubmed publisher
    ..The risk for CHD after the detection of SUA in an otherwise apparently normal fetus from an unselected population seems small and may not warrant specialist fetal echocardiography. ..
  23. Hjerrild B, Mortensen K, Sørensen K, Pedersen E, Andersen N, Lundorf E, et al. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study. J Cardiovasc Magn Reson. 2010;12:12 pubmed publisher
    ..23; p = 0.024). Aortic dilatation was present in 23% of adult TS women, where aortic valve morphology, age and blood pressure were major determinants of the aortic diameter. ..
  24. Wu M, Chen H, Wang J, Kao F, Huang S. Paradigm shift in the intervention for secundum atrial septal defect in an era of transcatheter closure: A national birth cohort study. Am Heart J. 2015;170:1070-6 pubmed publisher
    ..149). In the era of catheter intervention, the interventional criteria for ASDII are less strict and one-third of the patients may receive intervention, mostly transcatheter closure, at the pediatric ages. ..
  25. Ardic I, Kaya M, Kasapkara A, Sarli B, Dogdu O, Dogan A, et al. [Evaluation of adult congenital heart diseases]. Turk Kardiyol Dern Ars. 2010;38:25-31 pubmed
    ..5%). In our study, atrial and ventricular septal defects accounted for the majority of CHDs in adult patients (69.5%). Multicenter studies are required to determine the incidence of CHD among adult population in Turkey. ..
  26. Shepard C, Kochilas L, Rosengart R, Brearley A, Bryant R, Moller J, et al. Repair of major congenital cardiac defects in low-birth-weight infants: is delay warranted?. J Thorac Cardiovasc Surg. 2010;140:1104-9 pubmed publisher
    ..5 to 2.5 kg. We conclude that, in our series, weight was not an independent risk factor for mortality, and, therefore, operative delay because of patient weight might be unwarranted. ..
  27. Calderon J, Willaime M, Lelong N, Bonnet D, Houyel L, Ballon M, et al. Population-based study of cognitive outcomes in congenital heart defects. Arch Dis Child. 2018;103:49-56 pubmed publisher
    To characterise and compare cognitive outcomes in children with operated (open-heart surgery) and non-operated (catheter-based interventions only or no intervention) congenital heart defects (CHD) and to determine associated risk factors.
  28. Greco M, Ferrara P, Farello G, Striano P, Verrotti A. Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review. Epilepsy Res. 2018;139:92-101 pubmed publisher
    ..delay, intellectual disability, seizures, vision problems, hearing loss, short stature, brain anomalies, congenital heart defects, cardiomyopathy, renal anomalies and distinctive facial features...
  29. Rodefeld M, Coats B, Fisher T, Giridharan G, Chen J, Brown J, et al. Cavopulmonary assist for the univentricular Fontan circulation: von Kármán viscous impeller pump. J Thorac Cardiovasc Surg. 2010;140:529-36 pubmed publisher
  30. Giglia T, Humpl T. Preoperative pulmonary hemodynamics and assessment of operability: is there a pulmonary vascular resistance that precludes cardiac operation?. Pediatr Crit Care Med. 2010;11:S57-69 pubmed publisher
    ..Amelioration of any reversible factors before operation and optimization of their management in the preoperative and postoperative period are recommended. ..
  31. Ganigara M, Prabhu A, Varghese R, Pavithran S, Valliatu J, Nair R. Extracardiac Fontan operation after late bidirectional Glenn shunt. Asian Cardiovasc Thorac Ann. 2010;18:253-9 pubmed publisher
    ..Despite a trend towards prolonged pleural effusion, there was no adverse outcome in the short or intermediate term. Long-term follow-up is required to see whether delayed creation of a Glenn shunt is associated with late disadvantages. ..
  32. Elalaoui S, Ratbi I, Malih M, Bounasse M, Sefiani A. Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report. Int J Pediatr Otorhinolaryngol. 2010;74:1092-4 pubmed publisher
    ..We describe an unusual case of hypoglossia-hypodactylia syndrome. The newborn had hypoglossia, limb defects and complex congenital cardiopathy, which has to date never been reported to be associated to this syndrome. ..
  33. Kaskinen A, Helve O, Andersson S, Kirjavainen T, Martelius L, Mattila I, et al. Chronic Hypoxemia in Children With Congenital Heart Defect Impairs Airway Epithelial Sodium Transport. Pediatr Crit Care Med. 2016;17:45-52 pubmed publisher
    ..The impaired airway epithelial amiloride-sensitive Na transport activity in profoundly hypoxemic children with cyanotic congenital heart defect may hinder defense against lung edema after cardiac surgery. ..
  34. Pisoni C, Brucato A, Ruffatti A, Espinosa G, Cervera R, Belmonte Serrano M, et al. Failure of intravenous immunoglobulin to prevent congenital heart block: Findings of a multicenter, prospective, observational study. Arthritis Rheum. 2010;62:1147-52 pubmed publisher
    ..IVIG at the dose and frequency used in this study was not effective as prophylactic therapy for CHB in high-risk mothers. ..
  35. Schievink W, Raissi S, Maya M, Velebir A. Screening for intracranial aneurysms in patients with bicuspid aortic valve. Neurology. 2010;74:1430-3 pubmed publisher
    ..In this case-control study, the frequency of intracranial aneurysms among our bicuspid aortic valve patient population was significantly higher than in the control population. ..
  36. Vlasselaers D, Mesotten D, Langouche L, Vanhorebeek I, van den Heuvel I, Milants I, et al. Tight glycemic control protects the myocardium and reduces inflammation in neonatal heart surgery. Ann Thorac Surg. 2010;90:22-9 pubmed publisher
    ..This appears not to be mediated by an early, direct insulin signaling effect, but may rather be due to independent effects of preventing hyperglycemia during reperfusion. ..
  37. Toomer K, Fulmer D, Guo L, Drohan A, Peterson N, Swanson P, et al. A role for primary cilia in aortic valve development and disease. Dev Dyn. 2017;246:625-634 pubmed publisher
    ..Developmental Dynamics 246:625-634, 2017. © 2017 Wiley Periodicals, Inc. ..
  38. Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N. MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. Am J Med Genet A. 2017;173:1264-1269 pubmed publisher
    ..intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features...
  39. Januszewska K, Malec E, Birnbaum J, Loeff M, Sodian R, Schmitz C, et al. Paediatric heart transplantation - the impact of a ventricular assist device on operative outcomes. Kardiol Pol. 2010;68:664-9 pubmed
    ..773), duration of hospital stay (p = 0.853), and incidence of acute rejection episodes (p = 0.575). The use of VAD as a bridge to heart transplantation in children with severe heart failure had no negative effect on treatment outcomes. ..
  40. Irving C, Parry G, Cassidy J, Hasan A, Griselli M, Kirk R. Outcomes following infant listing for cardiac transplantation: the impact of strategies introduced to counteract limited donor availability. Arch Dis Child. 2010;95:883-7 pubmed publisher
    ..Outcomes following transplantation have improved over time. ..
  41. Mahmoud H, Hosny M, Philip P, Wagdy K, Kharabish A, El Mozy W, et al. An interatrial tunnel: a rare form of atrial septal defects. Echocardiography. 2016;33:1781-1784 pubmed publisher
    Atrial septal defects (ASDs) account for approximately 6%-10% of congenital heart defects. The well-known types of atrial septal communications are the ostium secundum, ostium primum, sinus venosus types, and coronary sinus defects...
  42. Mazonson P, Kane M, Colberg K, Harris H, Brown H, Mohr A, et al. Prevalence of Medical Conditions Potentially Amenable to Cellular Therapy among Families Privately Storing Umbilical Cord Blood. Matern Child Health J. 2017;21:208-214 pubmed publisher
  43. Gorenflo M, Gu H, Xu Z. Peri-operative pulmonary hypertension in paediatric patients: current strategies in children with congenital heart disease. Cardiology. 2010;116:10-7 pubmed publisher
    ..Inhaled iloprost significantly improved haemodynamics in a dose-dependent manner and prevented reactive PH and pulmonary hypertensive crises in most of these mechanically ventilated children after CHD repair. ..
  44. Cholette J, Mamikonian L, Alfieris G, Blumberg N, Lerner N. Aspirin resistance following pediatric cardiac surgery. Thromb Res. 2010;126:200-6 pubmed publisher
    ..Further studies are needed to determine whether children with high levels of uTxB2 despite aspirin therapy and/or those with elevated preoperative CRP are at increased risk for thrombosis. ..
  45. Prakash S, Bossé Y, Muehlschlegel J, Michelena H, Limongelli G, Della Corte A, et al. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol. 2014;64:832-9 pubmed publisher of disorders characterized by diverse aortic valve malformations with associated aortopathy, congenital heart defects, and genetic syndromes...
  46. Devarajan P, Krawczeski C, Nguyen M, Kathman T, Wang Z, Parikh C. Proteomic identification of early biomarkers of acute kidney injury after cardiac surgery in children. Am J Kidney Dis. 2010;56:632-42 pubmed publisher
    ..They also offer prognostic information about the duration of AKI and length of hospitalization after cardiac surgery. ..
  47. Hofhuizen C, Lemson J, Hemelaar A, Settels J, Schraa O, Singh S, et al. Continuous non-invasive finger arterial pressure monitoring reflects intra-arterial pressure changes in children undergoing cardiac surgery. Br J Anaesth. 2010;105:493-500 pubmed publisher
    ..However, in a considerable number of attempts, obtaining a signal was time-consuming or unsuccessful. This technique seems promising but requires further technical development. ..
  48. Jortveit J, Klcovansky J, Døhlen G, Eskedal L, Birkeland S, Holmstrøm H. Out-of-hospital sudden cardiac arrest in children with congenital heart defects. Arch Dis Child. 2018;103:57-60 pubmed publisher
    ..The risk is assumed to be higher in children with congenital heart defects (CHDs) than in healthy individuals...
  49. Moe T, Abrich V, Rhee E. Atrial Fibrillation in Patients with Congenital Heart Disease. J Atr Fibrillation. 2017;10:1612 pubmed publisher
    ..control in patients with CHD and should be considered at the time of surgical repair or revision of congenital heart defects. When possible, patients with complex CHD should be referred for care to an adult congenital heart ..
  50. Malec E, Schmidt C, Lehner A, Januszewska K. Results of the Fontan operation with no early mortality in 248 consecutive patients. Kardiol Pol. 2017;75:255-260 pubmed publisher
    ..operation has undergone several modifications and today is the primary way to treat a broad spectrum of congenital heart defects. The purpose of this study is to present the results of treatment of children with a single ventricle ..
  51. Ng B, Hokanson J. Missed congenital heart disease in neonates. Congenit Heart Dis. 2010;5:292-6 pubmed publisher
    ..Critical left sided obstructive lesions were the most common cause of these events. ..
  52. Tsukube T, Yagi N, Hoshino M, Nakashima Y, Nakagawa K, Okita Y. Impact of synchrotron radiation-based X-ray phase-contrast tomography on understanding various cardiovascular surgical pathologies. Gen Thorac Cardiovasc Surg. 2015;63:590-2 pubmed publisher
    ..PCXI is also useful for examining abnormalities of the cardiac conduction system in congenital heart defects. Synchrotron radiation-based X-ray phase-contrast tomography has strong modality for analyzing 3D ..
  53. Huddleston C. Lung transplantation for pulmonary hypertension in children. Pediatr Crit Care Med. 2010;11:S53-6 pubmed publisher
    ..Although these survival statistics are somewhat poor, transplantation remains the only viable alternative for children with end-stage pulmonary vascular disease failing to respond to medical therapy. ..