遗传性胸主动脉瘤/夹层基因检测及临床诊疗专家共识

Chinese Expert Consensus on the Genetic Testing and Clinical Management of Heritable Thoracic Aortic Aneurysm/Dissection

遗传性胸主动脉病以胸主动脉瘤/夹层为主要特征,起病隐匿,危害极大。基因检测可帮助实现胸主动脉病的早期诊断,并进行亚型分类,对于其后随访策略和治疗时机的选择具有一定指导意义。国家心血管病专家委员会血管外科专业委员会的专家学者,参考国际相关指南,并结合国人遗传性胸主动脉病基因检测数据和中国心血管外科专家的临床诊疗经验,形成了本共识,旨在阐述基因检测在遗传性胸主动脉病诊断及筛查中的作用,以及明确诊断后针对各种类型胸主动脉病患者提出医疗和生活方式管理方面的建议。

Heritable aortopathy is characterized by aortic aneurysms/dissections. The disease is mostly latent before the onset of life threatening dissection. Genetic testing can be helpful to the early diagnosis and subtype classification, which may provide important guidance to the follow-up strategy and the choice of treatment opportunity. Referring to the relevant international guidelines, experts of National Society of Vascular Surgery have developed this consensus based on genetic data of Chinese patients with thoracic aortic disease and clinical experience of Chinese cardiovascular surgeons aiming to elaborate the role of genetic testing in the diagnosis and screening of heritable thoracic aortic disease, and to provide the suggestions on medical treatment and lifestyle management for individual aortopathy subject with various subtype of aortapathy.