遗传性主动脉瘤疾病的基因检测：支持。
Genetic testing in aortic aneurysm disease: PRO.
机构信息
Department of Internal Medicine, University of Texas Health Science Center at Houston, 6431 Fannin Street MSB 6.100, Houston, TX 77030, USA.
出版信息
Cardiol Clin. 2010 May;28(2):191-7. doi: 10.1016/j.ccl.2010.01.017.
Abstract
Thoracic aortic aneurysms leading to type A dissections (TAAD) are the major diseases affecting the aorta. A genetic predisposition for TAAD can occur as part of a genetic syndrome. It can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Genetic heterogeneity for familial TAAD has been demonstrated with the identification of four genes leading to TAAD. Genetic testing for TAAD and the phenotype and management of patients harboring mutations in these genes are addressed in this article.
摘要
胸主动脉瘤导致的 A 型夹层（TAAD）是主要影响主动脉的疾病。TAAD 的遗传易感性可能是遗传综合征的一部分。它可以以常染色体显性遗传的方式遗传，外显率降低，表现度可变。已经确定了导致 TAAD 的四个基因，证明了家族性 TAAD 的遗传异质性。本文讨论了 TAAD 的基因检测以及携带这些基因突变的患者的表型和管理。
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