Department of Cardiac Surgery, North Campus Research Complex, University of Michigan, Ann Arbor, MI; Xiangya School of Medicine, Central South University, Changsha, People's Republic of China.
Department of Cardiac Surgery, North Campus Research Complex, University of Michigan, Ann Arbor, MI.
Tech Vasc Interv Radiol. 2021 Jun;24(2):100747. doi: 10.1016/j.tvir.2021.100747. Epub 2021 Jul 26.
A large portion of thoracic aortic aneurysms and dissections (TAAD) have a genetic etiology. In recent decades, numerous genes have been identified as associated with heritable thoracic aortic aneurysms and dissections (HTAAD), providing important insights into the underlying molecular mechanisms of both conditions. Today's sequencing technology has allowed us to screen people with high risk of HTAAD, and provide gene‑tailored treatment and management. This review aims to provide an overview of the genetic basis of HTAAD, its underlying molecular mechanism, and practical recommendations for genetic and clinical evaluation as well as patient management.
很大一部分胸主动脉瘤和夹层（TAAD）具有遗传病因。近几十年来，许多基因已被确定与遗传性胸主动脉瘤和夹层（HTAAD）相关，这为这两种疾病的潜在分子机制提供了重要的见解。当今的测序技术使我们能够筛选出具有 HTAAD 高风险的人群，并提供基因定制的治疗和管理。本综述旨在概述 HTAAD 的遗传基础、其潜在的分子机制，以及遗传和临床评估以及患者管理的实用建议。
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