TGFBR1 and congenital heart malformation: Lastly, the syndromic aneurysms are related to well-known genetic pathologies, such as MFS (caused by mutations in the FBN1 gene encoding for ECM protein fibrillin-1), Loeys-Dietz syndrome (LDS, related to mutations in TGFβR1 or TGFβR2), Ehlers-Danlos syndrome (EDS, caused by mutations in genes encoding COL3A1, TGFβR1 or TGFβR2), bicuspid aortic valve (BAV, the most common congenital heart malformation associated with loss-of-function mutations in NOTCH1), and Turner syndrome [6].