Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.
Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.
复制标题
胸主动脉瘤和急性主动脉夹层的遗传风险的最新进展：对临床护理的启示。
DOI：
10.23736/s0021-9509.21.11816-6
复制
发表时间：
2021-06
期刊：
影响因子：
--
通讯作者：
Cecchi AC
中科院分区：
文献类型：
--
作者：
Milewicz DM;Guo D;Hostetler E;Marin I;Pinard AC;Cecchi AC
遗传变异在诱发个体胸主动脉瘤和夹层中起重要作用。基因组研究的进展导致发现了11个经验证可引起遗传性胸主动脉疾病（HIVs）的基因。确定导致受累患者主动脉疾病的致病性变异，通过建立明确的诊断以告知定制的治疗和管理，并能够识别有风险的亲属以预防下游发病率和死亡率，从而赋予了实质性的临床实用性。临床基因检测的可用性和可获得性已显著改善，因此基因检测被认为是胸主动脉疾病患者临床评价的一个组成部分。本文综述了胸主动脉疾病的遗传基础、基因检测的实用建议和临床意义。
Genetic variation plays a significant role in predisposing individuals to thoracic aortic aneurysms and dissections. Advances in genomic research have led to the discovery of 11 genes validated to cause heritable thoracic aortic disease (HTAD). Identifying the pathogenic variants responsible for aortic disease in affected patients confers substantial clinical utility by establishing a definitive diagnosis to inform tailored treatment and management, and enables identification of at-risk relatives to prevent downstream morbidity and mortality. The availability and access to clinical genetic testing has improved dramatically such that genetic testing is considered an integral part of the clinical evaluation for patients with thoracic aortic disease. This review provides an update on our current understanding of the genetic basis of thoracic aortic disease, practical recommendations for genetic testing, and clinical implications.