Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance

Am J Med Genet. 1996 Apr 24;62(4):336-8. doi: 10.1002/(SICI)1096-8628(19960424)62:4<336::AID-AJMG2>3.0.CO;2-P.


Congenital bicuspid aortic valve (BAV) is one of the most frequent heart defects detected by echocardiographic investigation and necropsy (0.9-1% of the general population), but only 16 families with familial congenital BAV have been described up to now. We report on a family in which 4 members of two generations (2 brothers, 1 sister, and her son) are affected with BAV. The BAV mode of inheritance is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aortic Valve / abnormalities*
  • Child
  • Fatal Outcome
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Pedigree