Molecular Cardiology Division, Victor Chang Cardiac Research Institute, 405 Liverpool Street, Darlinghurst, NSW 2010, Australia.
Heart Fail Clin. 2010 Apr;6(2):129-40. doi: 10.1016/j.hfc.2009.11.003.
Dilated cardiomyopathy (DCM) is a myocardial disorder defined by ventricular chamber enlargement and systolic dysfunction. DCM can result in progressive heart failure, arrhythmias, thromboembolism, and premature death, and contributes significantly to health care costs. In many cases, DCM results from acquired factors that affect cardiomyocyte function or survival. Inherited genetic variants are also now recognized to have an important role in the etiology of DCM. Despite substantial progress over the past decade, our understanding of familial DCM remains incomplete. Current concepts of the molecular pathogenesis, clinical presentation, natural history, and management of familial DCM are outlined in this review.
扩张型心肌病（DCM）是一种以心室腔扩大和收缩功能障碍为特征的心肌疾病。DCM 可导致进行性心力衰竭、心律失常、血栓栓塞和过早死亡，并显著增加医疗保健成本。在许多情况下，DCM 是由影响心肌细胞功能或存活的获得性因素引起的。遗传性遗传变异现在也被认为在 DCM 的病因学中起重要作用。尽管在过去十年中取得了重大进展，但我们对家族性 DCM 的理解仍不完整。本文综述了家族性 DCM 的分子发病机制、临床表现、自然史和治疗的新概念。
