TGFBR1 and aortic aneurysm: Recently, a missense mutation in transforming growth factor-beta receptor 2 gene (TGFBR2) was found in a patient with BAV and aortic aneurysm [14], but earlier studies found no mutation in either TGFBR1 or TGFBR2 in patients with familial and sporadic BAV disease [15,16].