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• W4381837018 endingPage "2915" @default.
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• W4381837018 abstract "Researches on Marfan syndrome and Ehlers-Danlos syndrome leading to early-onset aortic dissection (AD) emphasize the importance of gene variants, but the genetic pathogenesis, clinical characteristics and outcomes of early-onset isolated Stanford type B aortic dissection (iTBAD) patients remain unclear and need to be further elucidated.Isolated type B AD patients with an onset age of less than 50 years were enrolled in this study. Whole exome sequencing (WES) was performed to detect 11 known thoracic aortic aneurysm and dissection (TAAD) gene variants. Clinical characteristics and outcomes were compared between patients with and without gene variants. Multivariate Cox regression analysis was performed to identify independent risk factors for aortic-related adverse events (ARAEs) after endovascular aortic repair.A total of 37 patients were included. Ten patients carried 10 variants in five TAAD genes, four of whom carried pathogenic or likely pathogenic variants. Compared to patients without the variants, patients with variants had a lower incidence of hypertension (50.0% vs. 88.9%, P=0.021), a higher incidence of other vascular abnormalities (60.0% vs. 18.5%, P=0.038), all-cause mortality (40.0% vs. 3.7%, P=0.014) and aortic related mortality (30.0% vs. 3.7%, P=0.052). Multivariate analysis confirmed the presence of TAAD gene variants as the only independent risk factor for ARAEs [hazard ratio (HR) =4.00; 95% confidence interval (CI): 1.26-12.74; P=0.019].Routine genetic testing is necessary for early-onset iTBAD patients. Individuals with a high risk of ARAEs can be identified by detecting TAAD gene variants, which is important for risk stratification and proper management." @default.
• W4381837018 created "2023-06-25" @default.
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• W4381837018 date "2023-06-01" @default.
• W4381837018 modified "2023-09-25" @default.
• W4381837018 title "Thoracic aneurysm and dissection gene variants increase the risk of aortic-related adverse events in early-onset isolated Stanford type B aortic dissection after endovascular aortic repair" @default.
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• W4381837018 doi "https://doi.org/10.21037/jtd-22-1529" @default.
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