The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.
Gago-Díaz M, Brion M, Gallego P et al.
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Abstract
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Bicuspid aortic valve is the most common cardiovascular congenital malformation affecting 2% of the general population. The incidence of life-threatening complications, the high heritability, and familial clustering rates support the interest in identifying risk or protective genetic factors. The main objective of the present study was to identify population-based genetic variation associated with bicuspid aortic valve and concomitant ascending aortic dilation.
565 European ancestry cases, 484 European ancestry controls
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