Institute for Cardiac Diagnostics and Therapy (IKDT), Berlin, Germany.
Department of Cardiology, Charité-Universitaetsmedizin Berlin, Berlin, Germany.
Nat Rev Dis Primers. 2019 May 9;5(1):32. doi: 10.1038/s41572-019-0084-1.
Dilated cardiomyopathy (DCM) is a clinical diagnosis characterized by left ventricular or biventricular dilation and impaired contraction that is not explained by abnormal loading conditions (for example, hypertension and valvular heart disease) or coronary artery disease. Mutations in several genes can cause DCM, including genes encoding structural components of the sarcomere and desmosome. Nongenetic forms of DCM can result from different aetiologies, including inflammation of the myocardium due to an infection (mostly viral); exposure to drugs, toxins or allergens; and systemic endocrine or autoimmune diseases. The heterogeneous aetiology and clinical presentation of DCM make a correct and timely diagnosis challenging. Echocardiography and other imaging techniques are required to assess ventricular dysfunction and adverse myocardial remodelling, and immunological and histological analyses of an endomyocardial biopsy sample are indicated when inflammation or infection is suspected. As DCM eventually leads to impaired contractility, standard approaches to prevent or treat heart failure are the first-line treatment for patients with DCM. Cardiac resynchronization therapy and implantable cardioverter-defibrillators may be required to prevent life-threatening arrhythmias. In addition, identifying the probable cause of DCM helps tailor specific therapies to improve prognosis. An improved aetiology-driven personalized approach to clinical care will benefit patients with DCM, as will new diagnostic tools, such as serum biomarkers, that enable early diagnosis and treatment.
扩张型心肌病（Dilated cardiomyopathy，DCM）是一种临床诊断，其特征为左心室或双心室扩张和收缩功能受损，不能用异常负荷条件（如高血压和心脏瓣膜病）或冠状动脉疾病来解释。几种基因的突变可导致 DCM，包括编码肌节和桥粒结构成分的基因。非遗传形式的 DCM 可由不同的病因引起，包括感染（主要是病毒）引起的心肌炎症；暴露于药物、毒素或过敏原；以及内分泌或自身免疫性系统性疾病。DCM 的异质性病因和临床表现使得正确和及时的诊断具有挑战性。需要超声心动图和其他成像技术来评估心室功能障碍和不良的心肌重构，当怀疑炎症或感染时，需要进行心内膜心肌活检样本的免疫和组织学分析。由于 DCM 最终导致收缩功能受损，预防或治疗心力衰竭的标准方法是 DCM 患者的一线治疗。心脏再同步治疗和植入式心脏复律除颤器可能需要预防危及生命的心律失常。此外，确定 DCM 的可能病因有助于针对具体治疗方法改善预后。一种改善的基于病因的个性化临床护理方法将使 DCM 患者受益，新的诊断工具，如血清生物标志物，也将使早期诊断和治疗成为可能。
