扩张性心肌病通常被定义为在无异常加载条件（例如主动脉瓣疾病）或足以引起心室重构的明显冠状动脉疾病的情况下，左心室或双心室扩张或收缩功能障碍的存在。这个定义被认为过于限制性，因为左心室低收缩功能而无扩张可能是扩张性心肌病的最初表现。扩张性心肌病的原因包括遗传因素（原发性扩张性心肌病）或获得性因素（继发性扩张性心肌病）。获得性因素包括感染、毒素、癌症治疗、内分泌病、妊娠、快速心律失常和免疫介导性疾病。5-15%的获得性扩张性心肌病患者携带有可能致病的或致病的基因变异（即基因突变）。因此，诊断测试和治疗方法应始终考虑遗传和获得性因素。本综述将重点讨论当前多维诊断和治疗方法，并讨论可能推动未来治疗措施的病理生理学基础，以修复或替代现有的基因突变，或针对遗传性或获得性扩张性心肌病的炎症、代谢或纤维化驱动因子。版权所有 © 2023 Elsevier Ltd. 保留所有权利。

Dilated cardiomyopathy is conventionally defined as the presence of left ventricular or biventricular dilatation or systolic dysfunction in the absence of abnormal loading conditions (eg, primary valve disease) or significant coronary artery disease sufficient to cause ventricular remodelling. This definition has been recognised as overly restrictive, as left ventricular hypokinesis without dilation could be the initial presentation of dilated cardiomyopathy. The causes of dilated cardiomyopathy comprise genetic (primary dilated cardiomyopathy) or acquired factors (secondary dilated cardiomyopathy). Acquired factors include infections, toxins, cancer treatment, endocrinopathies, pregnancy, tachyarrhythmias, and immune-mediated diseases. 5-15% of patients with acquired dilated cardiomyopathy harbour a likely pathogenic or pathogenic gene variant (ie, gene mutation). Therefore, the diagnostic tests and therapeutic approach should always consider both genetic and acquired factors. This Seminar will focus on the current multidimensional diagnostic and therapeutic approach and discuss the underlying pathophysiology that could drive future treatments aiming to repair or replace the existing gene mutation, or target the specific inflammatory, metabolic, or pro-fibrotic drivers of genetic or acquired dilated cardiomyopathy.Copyright © 2023 Elsevier Ltd. All rights reserved.