McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA -
McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA.
J Cardiovasc Surg (Torino). 2021 Jun;62(3):203-210. doi: 10.23736/S0021-9509.21.11816-6. Epub 2021 Mar 18.
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.
遗传变异在导致个体易患胸主动脉瘤和夹层方面起着重要作用。基因组研究的进展导致发现了 11 个已被证实可导致遗传性胸主动脉疾病（HTAD）的基因。在受影响的患者中确定导致主动脉疾病的致病性变异体具有重要的临床意义，可通过建立明确的诊断来提供针对性的治疗和管理，并能够识别有风险的亲属以预防下游发病率和死亡率。临床遗传检测的可用性和可及性得到了显著改善，以至于遗传检测被认为是胸主动脉疾病患者临床评估的一个组成部分。这篇综述提供了对胸主动脉疾病遗传基础的最新认识、遗传检测的实用建议以及临床意义。
