Department of Cardiology, Cardiovascular Research Institute Maastricht, University of Maastricht & Maastricht University Medical Centre, Maastricht, Netherlands; Department of Cardiovascular Sciences, Centre for Vascular and Molecular Biology, KU Leuven, Leuven, Belgium.
Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Lancet. 2023 Sep 16;402(10406):998-1011. doi: 10.1016/S0140-6736(23)01241-2.
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.
扩张型心肌病通常定义为左心室或双心室扩张或收缩功能障碍，而不存在异常负荷条件（例如，原发性瓣膜病）或足以引起心室重构的严重冠状动脉疾病。这个定义被认为过于严格，因为没有扩张的左心室运动不良可能是扩张型心肌病的初始表现。扩张型心肌病的病因包括遗传因素（原发性扩张型心肌病）或获得性因素（继发性扩张型心肌病）。获得性因素包括感染、毒素、癌症治疗、内分泌疾病、妊娠、心动过速和免疫介导的疾病。5-15%的获得性扩张型心肌病患者携带可能致病或致病性基因变异（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。本次研讨会将重点介绍目前多维的诊断和治疗方法，并讨论潜在的病理生理学，这些病理生理学可能会推动未来的治疗方法，旨在修复或替代现有的基因突变，或针对遗传或获得性扩张型心肌病的特定炎症、代谢或促纤维化驱动因素。
