Heart Failure & Cardiomyopathy Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Biomark Med. 2013 Aug;7(4):517-33. doi: 10.2217/bmm.13.77.
Discoveries made during the last 20 years have revealed a genetic origin in many cases of dilated cardiomyopathy (DCM). Currently, over 40 genes have been associated with the disease. Mutations in DCM-causing genes induce the condition through a variety of different pathological pathways with complex and not completely understood mechanisms. Genes that encode for sarcomeric, cytoskeletal, nuclear membrane, dystrophin-associated glycoprotein complex and desmosomal proteins are the principal genes involved. In this review we discuss the most frequent DCM-causing genes. We propose a classification in which DCM genes are considered as being major or minor genes according to their mutation frequency and the available supporting evidence. The main phenotypic characteristics associated with each gene are discussed.
在过去的 20 年中，许多扩张型心肌病 (DCM) 的病例揭示了遗传起源。目前，已经有超过 40 个基因与该病相关。导致 DCM 的基因突变通过多种不同的病理途径诱导疾病，其机制复杂且尚未完全理解。编码肌节、细胞骨架、核膜、dystrophin 相关糖蛋白复合物和桥粒蛋白的基因是主要涉及的基因。在这篇综述中，我们讨论了最常见的导致 DCM 的基因。我们根据其突变频率和现有支持证据，提出了一种分类方法，将 DCM 基因视为主要或次要基因。讨论了与每个基因相关的主要表型特征。
