Additional and very convincing evidence for involvement of the TGFβ pathway in aneurysmal disease was provided by the identification of TGFBR1 and −2 mutations in patients presenting a phenotype characterized by aortic root aneurysm, arterial tortuosity and craniofacial malformations (including hypertelorism and bifid uvula/cleft palate), called the Loeys-Dietz syndrome (LDS) [11]. The gene discussed is TGFB1; the disease is Loeys-Dietz syndrome.