扩张型心肌病:遗传决定因素与机制
Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.
作者信息
McNally Elizabeth M, Mestroni Luisa
机构信息
From the Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago IL (E.M.M.); and Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora (L.M.).
出版信息
Circ Res. 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396.
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of DCM, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to DCM and their pathogenetic mechanisms. Historically, cardiac morphology has been used to classify cardiomyopathy subtypes. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.
非缺血性扩张型心肌病(DCM)通常具有遗传发病机制。由于与DCM相关的基因和等位基因数量众多,全面的基因检测涵盖的基因组合越来越多。基因诊断有助于预测预后,特别是对于某些亚型的心律失常风险。此外,对家庭成员进行级联基因检测可以识别出有风险或处于疾病早期阶段的人,为早期干预提供机会。本综述将探讨DCM的诊断和管理,包括基因评估的作用。我们还将概述与DCM相关的不同遗传途径及其发病机制。从历史上看,心脏形态学一直用于对心肌病亚型进行分类。确定基因变异正在成为一种额外的辅助手段,以帮助进一步细化DCM的亚型,特别是在心律失常风险增加的情况下,并最终有助于临床管理。
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