This case report adds to the limited literature on familial congenital bicuspid aortic valve, suggesting a genetic component to its inheritance.
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Highlights familial BAV clustering; extends 16 prior reports but remains hypothesis-generating without practice change.
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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Clementi et al. (1996) studied this question.
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