Abstract We0021: Genetic Characteristics and Personalized Medicine in Aortic Dissection: Insights from a Multicentre Cohort Study

Background: Aortic dissection (AD) is a life-threatening condition characterized by the tearing of the aortic wall, with significant genetic factors contributing to its development. This multicentre cohort study aims to elucidate the genetic characteristics associated with AD and their implications for personalized medicine. Methods: A total of 265 patients with confirmed acute and chronic AD were enrolled from 13 tertiary hospitals. Genetic analysis was conducted using next-generation sequencing to identify mutations in 39 genes associated with AD. We assessed the relationship between genetic mutations and clinical prognosis, focusing on adverse outcomes such as aortic-related death, adverse aortic remodelling, and major clinical events. Patients were categorized based on the presence of single or multiple gene mutations, and their clinical outcomes were monitored during hospitalization and follow-up. Results: Among the 265 cases, 41 (15.5%) were classified as hereditary thoracic aortic aneurysm and dissection (TAD), while 124 (46.8%) were identified as type B aortic dissection (TBAD). Notably, 78.75% of patients with TBAD exhibited mutations, with the FBN1 gene being the most frequently mutated (12.22%). The analysis revealed that individuals with mutations in FBN1, FBN2, ABCC6, and ACVRL1 had poor prognostic outcomes, with rates of adverse events reaching up to 100% in the latter. A statistically significant increase in aortic-related complications was observed in patients with multiple gene mutations (80%) compared to those without (23.53%, p < 0.05). Conclusions: This study highlights the critical role of genetic mutations in the prognosis of aortic dissection, particularly in patients with multiple mutations. The findings support the integration of genetic screening into clinical practice, paving the way for personalized medicine approaches in the management of aortic dissection. Future research should focus on the development of targeted therapies based on genetic profiles to improve patient outcomes.