Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.
Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.
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DOI：
10.1161/circresaha.116.309396
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发表时间：
2017-09-15
影响因子：
20.1
通讯作者：
Mestroni L
中科院分区：
文献类型：
--
作者：
McNally EM;Mestroni L
非缺血性扩张型心肌病通常具有遗传病因。由于大量的基因和等位基因归因于扩张型心肌病，全面的基因检测包括不断增加的基因面板。基因诊断可以帮助预测预后，特别是关于某些亚型的心律失常风险。此外，在家庭成员中进行级联基因检测可以识别那些有风险或患有早期疾病的人，为早期干预提供机会。本文综述了扩张型心肌病的诊断和治疗，包括遗传评估的作用。我们还将概述与扩张型心肌病相关的不同遗传途径及其发病机制。历史上，心脏形态学已被用于分类心肌病亚型。确定遗传变异正在成为一种额外的辅助手段，以帮助进一步完善扩张型心肌病的亚型，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。
Nonischemic dilated cardiomyopathy often has a genetic etiology. Because of the large number of genes and alleles attributed to dilated cardiomyopathy, 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 dilated cardiomyopathy, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to dilated cardiomyopathy 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 dilated cardiomyopathy, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.