MJA
MJA

Congenital heart disease: current knowledge about causes and inheritance

Med J Aust 2012; 197 (3): 155-159.

Summary

  • Gillian M Blue1
  • Edwin P Kirk2
  • Gary F Sholler1
  • Richard P Harvey3
  • David S Winlaw1

  • 1 Heart Centre for Children, The Children’s Hospital at Westmead, Sydney, NSW.
  • 2 Department of Medical Genetics, Sydney Children’s Hospital, Sydney, NSW.
  • 3 Victor Chang Cardiac Research Institute, Sydney, NSW.


Acknowledgements: 

We thank the New South Wales Cardiovascular Research Network (Heart Foundation of Australia and NSW Office for Science and Medical Research) for funding and support.

Competing interests:

No relevant disclosures.

  • 1. Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet 2010; 78: 103-123.
  • 2. Khairy P, Ionescu-Ittu R, Mackie AS, et al. Changing mortality in congenital heart disease. J Am Coll Cardiol 2010; 56: 1149-1157.
  • 3. Formigari R, Michielon G, Digilio MC, et al. Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg 2009; 35: 606-614.
  • 4. Nora JJ. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases: the genetic-environmental interaction. Circulation 1968; 38: 604-617.
  • 5. Merscher S, Funke B, Epstein JA, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001; 104: 619-629.
  • 6. Roos-Hesselink JW, Kerstjens-Frederikse WS, Meijboom FJ, Pieper PG. Inheritance of congenital heart disease. Neth Heart J 2005; 13: 88-91.
  • 7. Pierpont ME, Basson CT, Benson DW Jr, et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 3015-3038.
  • 8. Burn J, Goodship J. Congenital heart disease. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Emery and Rimoin’s principles and practice of medical genetics. 4th ed. London: Churchill Livingstone, 2002: 1239-1272.
  • 9. Lin AE, Ardinger HH. Genetic epidemiology of cardiovascular malformations. Prog Pediatr Cardiol 2005; 20: 113-126.
  • 10. American Academy of Pediatrics Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2001; 107: 442-449.
  • 11. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003; 112: 101-107.
  • 12. Soemedi R, Topf A, Wilson IJ, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 2012; 21: 1513-1520.
  • 13. van der Bom T, Zomer AC, Zwinderman AH, et al. The changing epidemiology of congenital heart disease. Nat Rev Cardiol 2011; 8: 50-60.
  • 14. Butler TL, Esposito G, Blue GM, et al. GATA4 mutations in 357 unrelated patients with congenital heart malformation. Genet Test Mol Biomarkers 2010; 14: 797-802.
  • 15. Jongbloed JD, Pósafalvi A, Kerstjens-Frederikse WS, et al. New clinical molecular diagnostic methods for congenital and inherited heart disease. Expert Opin Med Diagn 2011; 5: 9-24.
  • 16. Wren C, Birrell G, Hawthorne G. Cardiovascular malformations in infants of diabetic mothers. Heart 2003; 89: 1217-1220.
  • 17. Jenkins KJ, Correa A, Feinstein JA, et al. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 2995-3014.
  • 18. Cousins L. Etiology and prevention of congenital anomalies among infants of overt diabetic women. Clin Obstet Gynecol 1991; 34: 481-493.
  • 19. Botto LD, Olney RS, Erickson JD. Vitamin supplements and the risk for congenital anomalies other than neural tube defects. Am J Med Genet C Semin Med Genet 2004; 125C: 12-21.
  • 20. Wurst KE, Poole C, Ephross SA, Olshan AF. First trimester paroxetine use and the prevalence of congenital, specifically cardiac, defects: a meta-analysis of epidemiological studies. Birth Defects Res A Clin Mol Teratol 2010; 88: 159-170.
  • 21. Hove JR, Koster RW, Forouhar AS, et al. Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis. Nature 2003; 421: 172-177.
  • 22. Kirk EP, Sunde M, Costa MW, et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet 2007; 81: 280-291.
  • 23. Esposito G, Butler TL, Blue GM, et al. Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart. Am J Med Genet A 2011; 155A: 2416-2421.
  • 24. Calcagni G, Digilio M, Sarkozy A, et al. Familial recurrence of congenital heart disease: an overview and review of the literature. Eur J Pediatr 2007; 166: 111-116.
  • 25. Burn J, Brennan P, Little J, et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998; 351: 311-316.
  • 26. Nora JJ, Nora AH, Optiz JM, Reynolds JF. Update on counseling the family with a first-degree relative with a congenital heart defect. Am J Med Genet 1988; 29: 137-142.
  • 27. Lewin MB, McBride KL, Pignatelli R, et al. Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. Pediatrics 2004; 114: 691-696.
  • 28. Kerstjens-Frederikse WS, Du Marchie Sarvaas GJ, Ruiter JS, et al. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives? Heart 2011; 97: 1228-1232.
  • 29. Gill HK, Splitt M, Sharland GK, Simpson JM. Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography. J Am Coll Cardiol 2003; 42: 923-929.

Author

remove_circle_outline Delete Author
add_circle_outline Add Author

Comment
Do you have any competing interests to declare? *

I/we agree to assign copyright to the Medical Journal of Australia and agree to the Conditions of publication *
I/we agree to the Terms of use of the Medical Journal of Australia *
Email me when people comment on this article