Key result
Bicuspid aortic valve and thoracic aortic disease are highly heritable, with BAV heritability estimated up to 0.9, though causative genes are identified in only 30% of heritable cases.
Highlights the significant heritable risk of bicuspid aortic valve and thoracic aortic disease among family members, noting minimal overlap in causative genes.
icuspid aortic valve (BAV) and thoracic aortic aneurysms (TAAs) leading to aortic dissections, called thoracic aortic disease (TAD), are highly heritable and cause a significant cumulative burden of lifetime morbidity.The most frequent complications of BAV are aortic valve stenosis, which requires surgical valve repair in more than half of patients, and the development of TAD in at least 25% of patients.1 In up to 20% of cases, BAV, TAD, or both conditions are transmitted in families as primarily autosomal dominant traits with variable penetrance and expressivity.2 In fact, family-based estimates place the heritability of BAV as high as 0.9. 3 Characteristically, probands with more severe clinical phenotypes (ie, young at presentation, dissections or symptomatic disease, additional congenital cardiovascular lesions) are more likely to have affected relatives.4 In families with TAD with multiple affected relatives, called heritable TAD, the causative gene is identified in only 30% of cases, and the percentage of families with BAV with solved genes is even lower.Despite similar phenotypes, current data suggest that the overlap of causative genes for BAV and heritable TAD is minimal.
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Prakash et al. (2023) conducted an editorial in Bicuspid aortic valve and thoracic aortic disease. Bicuspid aortic valve and thoracic aortic disease are highly heritable, with BAV heritability estimated up to 0.9, though causative genes are identified in only 30% of heritable cases.
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