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Progress and challenges in the genetics of congenital heart disease

David S Winlaw, Gary F Sholler and Richard P Harvey
Med J Aust 2005; 182 (3): . || doi: 10.5694/j.1326-5377.2005.tb06604.x
Published online: 7 February 2005

Congenital heart disease is often regarded as a chance occurrence affecting only a small number of children. In fact, it affects nearly 1 in 100 newborn infants1,2 and is the leading non-infectious cause of death in this age group. A third of those affected will need surgical or catheter-based intervention in the first year of life. In 2002, congenital heart disease accounted for 224 deaths in Australian children.2 In the United States there are more than 35 000 new cases each year and over 1 million survivors of congenital heart disease in the community.3


  • 1 Adolph Basser Cardiac Institute, The Children’s Hospital at Westmead, Westmead, NSW.
  • 2 Developmental Biology Program, Victor Chang Cardiac Research Institute, Darlinghurst, NSW.



  • 1. Hoffman JI. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol 1995; 16: 103-113.
  • 2. Australian Institute of Health and Welfare (AIHW) 2004. Heart, stroke and vascular diseases — Australian facts 2004. Canberra: AIHW and National Heart Foundation of Australia, 2004. (AIHW Catalogue No. CVD 27. Cardiovascular Disease Series No. 22.)
  • 3. American Heart Association. Heart disease and stroke statistics — 2005 update. Dallas, Tex: American Heart Association, 2005.
  • 4. Aylin P, Bottle A, Jarman B, et al. Paediatric cardiac surgical mortality in England after Bristol: descriptive analysis of hospital episode statistics 1991-2002. BMJ 2004; 329: 825.
  • 5. Gruber PJ, Epstein JA. Development gone awry: congenital heart disease. Circ Res 2004; 94: 273-283.
  • 6. Harvey RP. Patterning the vertebrate heart. Nat Rev Genet 2002; 3: 544-556.
  • 7. Christoffels VM, Habets PE, Franco D, et al. Chamber formation and morphogenesis in the developing mammalian heart. Dev Biol 2000; 223: 266-278.
  • 8. Anderson RH, Webb S, Brown NA, et al. Development of the heart: (3) Formation of the ventricular outflow tracts, arterial valves, and intrapericardial arterial trunks. Heart 2003; 89: 1110-1118.
  • 9. Kelly RG, Buckingham ME. The anterior heart-forming field: voyage to the arterial pole of the heart. Trends Genet 2002; 18: 210-216.
  • 10. Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003; 362: 1366-1373.
  • 11. Huhta J, Quintero RA, Suh E, et al. Advances in fetal cardiac intervention. Curr Opin Pediatr 2004; 16: 487-493.

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