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Netherlands Heart Journal logoLink to Netherlands Heart Journal
. 2005 Mar;13(3):88–91.

Inheritance of congenital heart disease

JW Roos-Hesselink, WS Kerstjens-Frederikse, FJ Meijboom, PG Pieper
PMCID: PMC2497309  PMID: 25696460

Abstract

Congenital heart defects (CHD) are the most common developmental anomalies and are the leading noninfectious cause of mortality in newborn babies. It has been estimated that between four and ten live-born infants per 1000 have a cardiac malformation (0.4 to 1.0%), 40% of which are diagnosed in the first year of life. The European Registration of Congenital Anomalies (EUROCAT) reported a prevalence of 58.9/10,000 live births in the northern part of the Netherlands (0.6%). Hoffman estimated that the true prevalence of CHD may be as high as 53 per 1000 pregnancies (5.3%), including a 20% occurrence of heart defects in spontaneous abortion, a 10% occurrence in stillbirth, and a 1% occurrence in live birth.

Keywords: congenital heart defects, inheritance patterns, tetralogy of Fallot

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Selected References

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  1. Abushaban L., Uthaman B., Kumar A. R., Selvan J. Familial truncus arteriosus: a possible autosomal-recessive trait. Pediatr Cardiol. 2003 Jan-Feb;24(1):64–66. doi: 10.1007/s00246-001-0099-7. [DOI] [PubMed] [Google Scholar]
  2. Burn J., Brennan P., Little J., Holloway S., Coffey R., Somerville J., Dennis N. R., Allan L., Arnold R., Deanfield J. E. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet. 1998 Jan 31;351(9099):311–316. doi: 10.1016/s0140-6736(97)06486-6. [DOI] [PubMed] [Google Scholar]
  3. Clementi M., Notari L., Borghi A., Tenconi R. Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. Am J Med Genet. 1996 Apr 24;62(4):336–338. doi: 10.1002/(SICI)1096-8628(19960424)62:4<336::AID-AJMG2>3.0.CO;2-P. [DOI] [PubMed] [Google Scholar]
  4. Digilio M. C., Casey B., Toscano A., Calabrò R., Pacileo G., Marasini M., Banaudi E., Giannotti A., Dallapiccola B., Marino B. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation. 2001 Dec 4;104(23):2809–2814. doi: 10.1161/hc4701.099786. [DOI] [PubMed] [Google Scholar]
  5. Délot Emmanuèle C. Control of endocardial cushion and cardiac valve maturation by BMP signaling pathways. Mol Genet Metab. 2003 Sep-Oct;80(1-2):27–35. doi: 10.1016/j.ymgme.2003.07.004. [DOI] [PubMed] [Google Scholar]
  6. Gelb B. D. Recent advances in the understanding of genetic causes of congenital heart defects. Front Biosci. 2000 Mar 1;5:D321–D333. doi: 10.2741/gelb. [DOI] [PubMed] [Google Scholar]
  7. Gelb B. D., Zhang J., Sommer R. J., Wasserman J. M., Reitman M. J., Willner J. P. Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome. Am J Med Genet. 1999 Nov 19;87(2):175–179. doi: 10.1002/(sici)1096-8628(19991119)87:2<175::aid-ajmg9>3.0.co;2-#. [DOI] [PubMed] [Google Scholar]
  8. Gill Harinder K., Splitt Miranda, Sharland Gurleen K., Simpson John M. Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography. J Am Coll Cardiol. 2003 Sep 3;42(5):923–929. doi: 10.1016/s0735-1097(03)00853-2. [DOI] [PubMed] [Google Scholar]
  9. Grange D. K., Balfour I. C., Chen S. C., Wood E. G. Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. Am J Med Genet. 1998 Feb 17;75(5):469–480. doi: 10.1002/(sici)1096-8628(19980217)75:5<469::aid-ajmg4>3.0.co;2-i. [DOI] [PubMed] [Google Scholar]
  10. Grossfeld P. D., Lucas V. W., Sklansky M. S., Kashani I. A., Rothman A. Familial occurrence of pulmonary atresia with intact ventricular septum. Am J Med Genet. 1997 Oct 31;72(3):294–296. [PubMed] [Google Scholar]
  11. Hasham Sumera N., Willing Marcia C., Guo Dong-chuan, Muilenburg Ann, He Rumin, Tran Van T., Scherer Steven E., Shete Sanjay S., Milewicz Dianna M. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 Jun 23;107(25):3184–3190. doi: 10.1161/01.CIR.0000078634.33124.95. [DOI] [PubMed] [Google Scholar]
  12. Hoffman J. I. Incidence of congenital heart disease: II. Prenatal incidence. Pediatr Cardiol. 1995 Jul-Aug;16(4):155–165. doi: 10.1007/BF00794186. [DOI] [PubMed] [Google Scholar]
  13. Huntington K., Hunter A. G., Chan K. L. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol. 1997 Dec;30(7):1809–1812. doi: 10.1016/s0735-1097(97)00372-0. [DOI] [PubMed] [Google Scholar]
  14. Kaynak Bogac, von Heydebreck Anja, Mebus Siegrun, Seelow Dominik, Hennig Steffen, Vogel Jan, Sperling Hans-Peter, Pregla Reinhard, Alexi-Meskishvili Vladimir, Hetzer Roland. Genome-wide array analysis of normal and malformed human hearts. Circulation. 2003 May 12;107(19):2467–2474. doi: 10.1161/01.CIR.0000066694.21510.E2. [DOI] [PubMed] [Google Scholar]
  15. McFadden David G., Olson Eric N. Heart development: learning from mistakes. Curr Opin Genet Dev. 2002 Jun;12(3):328–335. doi: 10.1016/s0959-437x(02)00306-4. [DOI] [PubMed] [Google Scholar]
  16. Moller J. H., Allen H. D., Clark E. B., Dajani A. S., Golden A., Hayman L. L., Lauer R. M., Marmer E. L., McAnulty J. H., Oparil S. Report of the task force on children and youth. American Heart Association. Circulation. 1993 Nov;88(5 Pt 1):2479–2486. doi: 10.1161/01.cir.88.5.2479. [DOI] [PubMed] [Google Scholar]
  17. Nienaber Christoph A., Eagle Kim A. Aortic dissection: new frontiers in diagnosis and management: Part I: from etiology to diagnostic strategies. Circulation. 2003 Aug 5;108(5):628–635. doi: 10.1161/01.CIR.0000087009.16755.E4. [DOI] [PubMed] [Google Scholar]
  18. Nora J. J., Nora A. H. The evolution of specific genetic and environmental counseling in congenital heart diseases. Circulation. 1978 Feb;57(2):205–213. doi: 10.1161/01.cir.57.2.205. [DOI] [PubMed] [Google Scholar]
  19. Petsas A. A., Anastassiades L. C., Constantinou E. C., Antonopoulos A. G. Familial discrete subaortic stenosis. Clin Cardiol. 1998 Jan;21(1):63–65. doi: 10.1002/clc.4960210113. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Schunkert H., Bröckel U., Kromer E. P., Elsner D., Jacob H. J., Riegger G. A. A large pedigree with valvuloseptal defects. Am J Cardiol. 1997 Oct 1;80(7):968–970. doi: 10.1016/s0002-9149(97)00560-2. [DOI] [PubMed] [Google Scholar]
  21. Udwadia A. D., Khambadkone S., Bharucha B. A., Lokhandwala Y., Irani S. F. Familial congenital valvar pulmonary stenosis: autosomal dominant inheritance. Pediatr Cardiol. 1996 Nov-Dec;17(6):407–409. doi: 10.1007/s002469900090. [DOI] [PubMed] [Google Scholar]

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