Advances in the Genetics and Familial Research of Acute Aortic Dissection

急性主动脉夹层是一种致死率极高的心血管急症，约20%~30%的病例具有家族聚集性，与马凡综合征、Loeys-Dietz综合征和血管型Ehlers-Danlos综合征等遗传性结缔组织病密切相关。关键致病基因包括FBN1、TGFBR1/2、SMAD3、COL3A1、ACTA2和MYH11等，这些基因影响弹力纤维、TGF-β通路、胶原代谢和平滑肌功能。遗传学检测技术可早期识别高危个体，结合影像学监测实现风险分层。临床管理强调个体化，并且可以通过遗传咨询、家族筛查和生活方式干预降低风险，为改善患者预后和减轻家庭社会负担提供重要依据。Acute aortic dissection (AAD) is a cardiovascular emergency characterized by an extremely high mortality rate. Approximately 20%~30% of AAD cases exhibit familial aggregation and are closely associated with hereditary connective tissue disorders, including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and vascular Ehlers-Danlos syndrome (vEDS). Key pathogenic genes implicated in these disorders include FBN1, TGFBR1/2, SMAD3, COL3A1, ACTA2, and MYH11, which disrupt critical processes such as elastin fiber formation, TGF-β signaling pathway regulation, collagen metabolism, and smooth muscle cell function. Genetic testing technologies enable the early identification of high-risk individuals, facilitating risk stratification when combined with regular imaging surveillance. Clinical management emphasizes personalized approaches, including tailored surgical timing, genetic counseling, familial screening, and lifestyle modifications. These strategies are crucial for improving patient prognosis and reducing the associated familial and societal burdens.