Sibley Heart Center Cardiology, 2835 Brandywine Road, Suite 300, Atlanta, GA 30341, USA.
Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE50, Cleveland, OH 44195, USA.
Med Clin North Am. 2019 Nov;103(6):1005-1019. doi: 10.1016/j.mcna.2019.08.001. Epub 2019 Aug 31.
Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit from both cardiology and genetic evaluations, including genetic testing. Important information can be obtained through family history, medical history, and genetic testing to help guide management and assess risk. A genetic diagnosis can guide cardiovascular management (type and frequency of vascular imaging, timing of surgical intervention), risk assessment for arterial aneurysm/dissection, evaluation of nonvascular features, and familial testing.
遗传性胸主动脉疾病 (HTAD) 如果早期未被诊断，可能会产生危及生命的后果。受影响的个体和有风险的家庭成员都受益于心脏病学和遗传学评估，包括基因检测。通过家族史、病史和基因检测可以获得重要信息，以帮助指导管理和评估风险。基因诊断可以指导心血管管理（血管成像的类型和频率、手术干预的时机）、动脉瘤/夹层的风险评估、非血管特征的评估和家族测试。
