Loeys-Dietz syndrome

Loeys-Dietz syndrome, or LDS, is an autosomal dominant genetic disorder of connective tissue with features resembling Marfan syndrome and Ehlers-Danlos syndrome. It is marked by aneurysms of the aorta, often appearing in childhood, and by a risk that the weakened aortic wall will suddenly dissect; aneurysms and dissections can also affect other arteries. Because aneurysms in children tend to rupture early, recognizing the syndrome matters greatly, and surgical repair of aortic aneurysms is essential to treatment. Five types, numbered I through V, are linked to mutations in the genes TGFBR1, TGFBR2, SMAD3, TGFB2 and TGFB3, which encode proteins in growth-factor signaling. About three quarters of cases arise from a new mutation in people with no family history. The syndrome was identified and characterized by the geneticists Bart Loeys and Harry Dietz at Johns Hopkins University in 2005.