Prenatal diagnosis of Loeys-Dietz syndrome.

Introduction ▼ Loeys–Dietz is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2, respectively) (B.L. Loeys et al. Engl J Med 2006; 355: 788–798; B.L. Loeys et al. Nat Genet 2005; 37: 275–281; C. Van Hemelrijk et al. Curr Opin Cardiol 2010; 25: 546–551).