What inheritance pattern is described for bicuspid aortic valve in families with a positive history?

What inheritance pattern is described for bicuspid aortic valve in families with a positive history?

• A. Autosomal recessive
• B. Autosomal dominant with incomplete penetrance
• C. X-linked
• D. Mitochondrial

Answer: (B)

Bicuspid aortic valve often runs in families and is frequently inherited in an autosomal dominant fashion. The twist is incomplete penetrance: not every person who carries the genetic variant develops a detectable valve abnormality. So you can see affected individuals in multiple generations and in both sexes, but some carriers remain asymptomatic or have only mild findings. This pattern—vertical transmission with both sexes involved, plus carriers who do not express the phenotype—best fits autosomal dominant inheritance with incomplete penetrance. Other patterns, like X-linked, mitochondrial, or autosomal recessive, don’t match the typical family transmission seen with BAV.

Bicuspid aortic valve often runs in families and is frequently inherited in an autosomal dominant fashion. The twist is incomplete penetrance: not every person who carries the genetic variant develops a detectable valve abnormality. So you can see affected individuals in multiple generations and in both sexes, but some carriers remain asymptomatic or have only mild findings. This pattern—vertical transmission with both sexes involved, plus carriers who do not express the phenotype—best fits autosomal dominant inheritance with incomplete penetrance. Other patterns, like X-linked, mitochondrial, or autosomal recessive, don’t match the typical family transmission seen with BAV.