Loeys Dietz syndrome can be caused by mutations in TGFBR1 [18] and several other genes encoding for components of the TGFβ signaling pathway including TGFBR2 [17,18,19,20], SMAD3 [32], TGFB2 [33,34] and TGFB3 [35,36]. This evidence concerns the gene TGFBR1 and Loeys-Dietz syndrome.