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 DCM 有大量基因和等位基因，因此全面的基因检测涵盖了不断增加的基因组。基因诊断有助于预测预后，尤其是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那些有风险或患有早期疾病的人，为早期干预提供机会。本综述将讨论 DCM 的诊断和管理，包括遗传评估的作用。我们还将概述与 DCM 相关的不同遗传途径及其发病机制。历史上，心脏形态学已被用于对心肌病亚型进行分类。