AI Article Synopsis
- Loeys-Dietz syndrome is an autosomal dominant condition that leads to aortic aneurysms and involves multiple body systems, with key features including wide-set eyes, a split uvula/cleft palate, and aortic issues.
- Individuals with this syndrome are at risk for aortic dissection even with smaller aortic sizes, as well as aneurysms in various arteries.
- The genetic factors linked to the syndrome involve mutations in several genes related to the TGFβ signaling pathway, which surprisingly show increased signaling activity in affected tissues, suggesting potential new treatment approaches.
Article Abstract
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.
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| http://dx.doi.org/10.1007/978-3-030-80614-9_11 | DOI Listing |
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