Other candidate genes have been suggested based on the presence of BAV in knockout mouse models (e.g., <i>GATA5, NOS3</i>) or in syndromic (e.g., <i>TGFBR1/2, TGFB2/3</i>) or non-syndromic (e.g., <i>ACTA2</i>) TAA forms.
Because bicuspid aortic valve (BAV) is a congenital heart defect in patients with Loeys-Dietz syndrome, this study was conducted to investigate whether variants in TGFBR1 or TGFBR2 are responsible for sporadic BAV.