Loeys-Dietz Syndrome

Abstract

Loeys-Dietz syndrome（LDS）is an autosomal dominant genetic disorder characterized by vascular（arterial tortuosity, aneurysms and/or dissections）, craniofacial（hypertelorism, bifid uvula/cleft palate, craniosynostosis）, and skeletal manifestations（pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus）; however, not all symptoms are always present in patients. Clinical features possibly overlap with Marfan syndrome, but the most characteristic feature of LDS is aggressive and widespread arterial aneurysms throughout the arterial tree, which needs frequent echocardiography or CT/MRA examinations and early therapeutic intervention. LDS is best managed with a multidisciplinary team of specialists, including pediatric and adult cardiologists, cardiothoracic surgeons, orthopedists and medical geneticists. The genes responsible for LDS are TGFBR1 and TGFBR2, and SMAD3 and TGFB2 are also involved in LDS-related phenotypes. These genes are all related to the TGF-β signaling pathway.