Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGFβ) signalling pathway: TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2 and TGFB3. Despite the loss of function nature of these mutations, the patient-derived aortic tissues show evidence of increased (rather than decreased) TGFβ signalling. These insights offer new options for therapeutic interventions.
Keywords: Acetabular protrusion; Amblyopia; Aneurysm- osteoarthritis syndrome; Aortic aneurysm with tortuosity; Aortic dissection; Arachnodactyly; Bifid uvula/cleft palate; Blue sclerae; Cervical spine malformation; Craniosynostosis; Cutis laxa; Dilatation of aortic root; Dystrophic scars; Easy bruising; Familial thoracic aortic aneurysm; Hypertelorism; Increased TGFβ signalling; Joint laxity; Loeys-Dietz syndrome; MYH11 and MYLK; Mutations in ACTA2; Mutations in SKI; Mutations in TGFBR1; Myopia; Osteoporosis; Overlap with Marfan and Ehlers-Danlos syndrome; Pectus excavatum or pectus carinatum; Peripartal uterine rupture; Pes planus; Retrognathia; SMAD3 or TGFB2; Scoliosis; Shprintzen-Goldberg syndrome; Spondylolisthesis; Spontaneous bowel rupture; Strabismus; TGFBR2; Talipes equinovarus; Translucent skin.
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