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- W4387370896 abstract "Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder associated with aortic root enlargement and risk of thoracic aortic dissection (AD). Genetic examination is essential for diagnosis.Analysis of clinical data on cardiovascular involvement and management of LDS patients.The study included carriers of LDS-associated genetic variants, identified between 2012 and 2022. Assessment of cardiovascular involvement was based on echocardiography and computed tomography angiography with quantitative assessment of arterial tortuosity. Involvement of other systems was also evaluated. We noted major cardiovascular events, including aortic events, defined as AD, elective aortic surgery or otherwise unexplained sudden death.34 patients from 15 families were included, five identified variants were novel. Probands' mean age was 41 years. Cardiovascular abnormalities, aortic involvement, aortic tortuosity and tortuosity of cervical arteries were present in 79, 71, 68 and 100% of carriers, respectively. First aortic events (9 A-type AD, 6 elective thoracic aortic surgeries, and one sudden death) occurred in 16 (47%) patients at median age of 35 years. The youngest age at AD was 16 years, and 7 years at elective aneurysm repair. Second and third aortic event occurred in 9 and 4 patients, respectively. 8 patients (24%) experienced other major cardiovascular events. Aortic event-free survival was shorter in presence of skin striae (p=0.03), tended to be shorter in presence of marfanoid features (p=0.06), and longer with TGFB2 variants (p=0.06).LDS is associated with high burden of cardiovascular complications at young age." @default.
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- W4387370896 date "2023-10-02" @default.
- W4387370896 modified "2023-10-13" @default.
- W4387370896 title "Cardiovascular involvement and prognosis in Loeys-Dietz syndrome" @default.
- W4387370896 doi "https://doi.org/10.33963/v.kp.97390" @default.
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