GATA4 Loss-of-Function Mutation and the Congenitally Bicuspid Aortic Valve

Aggregating evidence suggests that genetic determinants play a pivotal role in the pathogenesis of the congenitally bicuspid aortic valve (BAV). BAV is of pronounced genetic heterogeneity, and the genetic components underlying BAV in an overwhelming majority of patients remain elusive. In the current study, the whole coding exons and adjacent introns, as well as 5′ and 3′ untranslated regions of the GATA4 gene, which codes for a zinc-finger...