Sjöberg Gunnar, Kostareva Anna, Sejersen Thomas
Barnkardiologiska sektionen, Astrid Lindgrens barnsjukhus, Stockholm.
Lakartidningen. 2005;102(11):845-7, 850-3.
Cardiomyopathy is a disorder of the cardiac muscle and can be either primary or secondary. The primary disorders have been classified by WHO into 4 groups based on structure and function; hypertrophic, dilated and restricted cardiomyopathies and arrythmogenic right ventricle dysplasia. During the last decade the familial nature of many of these cardiomyopathies has been elucidated and different genes have been found to be mutated and causative of disease. Certain patterns can be distinguished in the mutated genes, e.g. in general the genes causing hypertrophic cardiomyopathies code for proteins involved in the contractile apparatus, the sarcomere, and the genes causing dilated cardiomyopathy code for proteins that anchor the sarcomere to the cell membrane and extracellular matrix. This article reviews these recent genetic findings and discusses their potential clinical applicability.
心肌病是一种心肌疾病，可分为原发性或继发性。世界卫生组织已根据结构和功能将原发性疾病分为4组；肥厚型、扩张型和限制型心肌病以及致心律失常性右心室发育不良。在过去十年中，许多这类心肌病的家族性本质已被阐明，并且发现不同的基因发生了突变并导致疾病。在突变基因中可以区分出某些模式，例如，一般来说，导致肥厚型心肌病的基因编码参与收缩装置（肌节）的蛋白质，而导致扩张型心肌病的基因编码将肌节锚定到细胞膜和细胞外基质的蛋白质。本文综述了这些最新的遗传学发现，并讨论了它们潜在的临床应用价值。
