Dilated cardiomyopathy (DCM) is defined as dilation and/or reduced function of one or both ventricles and remains a common disease worldwide. An estimated 40% of cases of familial DCM have an identifiable genetic cause. Accordingly, there is a fast-growing interest in the field of molecular genetics as it pertains to DCM. Many gene mutations have been identified that contribute to phenotypically significant cardiomyopathy. DCM genes can affect a variety of cardiomyocyte functions, and particular genes whose function affects the cell–cell junction and cytoskeleton are associated with increased risk of arrhythmias and sudden cardiac death. Through advancements in next-generation sequencing and cardiac imaging, identification of genetic DCM has improved over the past couple decades, and precision medicine is now at the forefront of treatment for these patients and their families. In addition to standard treatment of heart failure and prevention of arrhythmias and sudden cardiac death, patients with genetic cardiomyopathy stand to benefit from gene mechanism–specific therapies.

中文翻译：

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扩张型心肌病的遗传学

扩张型心肌病（DCM）被定义为一个或两个心室扩张和/或功能降低，并且仍然是世界范围内的常见疾病。据估计，40% 的家族性 DCM 病例有可识别的遗传原因。因此，人们对与 DCM 相关的分子遗传学领域的兴趣迅速增长。已发现许多基因突变可导致表型显着的心肌病。 DCM 基因可以影响多种心肌细胞功能，其功能影响细胞-细胞连接和细胞骨架的特定基因与心律失常和心源性猝死的风险增加有关。通过新一代测序和心脏成像技术的进步，遗传性 DCM 的识别在过去几十年中得到了改善，精准医疗现在处于这些患者及其家人治疗的最前沿。除了心力衰竭的标准治疗以及心律失常和心源性猝死的预防之外，遗传性心肌病患者还可以从基因机制特异性治疗中受益。