TGFBR 1/2 and Loeys-Dietz Syndrome
- DOI:
- 10.1093/med/9780199934522.003.0053
Loeys-Dietz Syndrome is an autosomal dominant aortic aneurysm syndrome characterized by the triad of hypertelorism, bifid uvula/cleft palate, and arterial tortuosity with ascending aortic aneurysm/dissection which was initially described in 10 families [Loeys–Dietz syndrome (LDS); MIM 609192] (Loeys et al., 2005). It is associated with multiple other findings, including craniosynostosis, Arnold Chiari type I malformation, pectus deformity, scoliosis, arachnodactyly, club feet, patent ductus arteriosus, atrial septal defect, bicuspid semilunar valves, and aneurysms/dissections throughout the arterial tree. It is due to mutations in TGFRB1 or TGFRB2 and the Angiotensin-II pathway seems involved in its etiology (Gallo, et al, 2014).
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