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Am J Med Genet. 1996 Apr 24;62(4):336-8.

Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance.

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Dipartimento di Pediatria, University of Padua, Italy.


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.

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