Department Attilio Reale, Sapienza University, Rome, Italy.
Department of Cardiothoracic Sciences, Second University of Naples, Naples, Italy.
Int J Cardiol. 2019 Jul 1;286:239-243. doi: 10.1016/j.ijcard.2018.10.091. Epub 2018 Oct 30.
Cardiomyopathies (CMPs) are a heterogeneous group of heart muscle diseases with several different phenotypes defined as myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular heart disease and congenital heart disease sufficient to explain the observed myocardial abnormality. CMPs can be classified into one of the following, i.e. hypertrophic CMP (HCM), dilated CMP (DCM), arrhythmogenic right ventricular CMP (ARVC), restrictive CMP (RCM), and unclassified CMPs. Although an increasing number of CMPs are now recognized to have a genetic basis, single mutations are associated with phenotypic variability and may cause not only a specific CMP, but also several different CMPs. Recently, it has become evident that, along with environmental interactions, age and sex may affect the penetrance of disease genes thus determining the phenotypic expression of CMPs. Noteworthy, an increasing body of data indicates that sex plays an important role in various forms of CMPs. The mode of inheritance may affect the sex-related occurrence of CMPs. Also, sex is a relevant determinant of the clinical manifestation of CMPs, and sex-related characteristics can be found in all forms. Sex-specific aspects of clinical disease expression as well as potential modes of inheritance should be therefore taken into proper consideration in order to improve the diagnostic work-up and treatment strategy of CMPs in both sexes.
心肌病（CMPs）是一组异质性的心脏肌肉疾病，有几种不同的表型定义为心肌紊乱，其中心肌在不存在冠状动脉疾病、高血压、瓣膜性心脏病和先天性心脏病的情况下结构和功能异常，足以解释所观察到的心肌异常。CMP 可以分为以下几种，即肥厚型心肌病（HCM）、扩张型心肌病（DCM）、致心律失常性右心室心肌病（ARVC）、限制型心肌病（RCM）和未分类的心肌病。尽管现在越来越多的 CMP 被认为具有遗传基础，但单一突变与表型变异性相关，不仅可能导致特定的 CMP，还可能导致几种不同的 CMP。最近，人们已经清楚地认识到，除了环境相互作用外，年龄和性别也可能影响疾病基因的外显率，从而决定 CMP 的表型表达。值得注意的是，越来越多的数据表明，性别在各种形式的 CMP 中起着重要作用。遗传方式可能会影响 CMP 的性别相关发生。此外，性别是 CMP 临床表现的一个相关决定因素，所有形式都可以发现与性别相关的特征。因此，在诊断和治疗 CMP 时，应适当考虑性别特异性的临床疾病表现和潜在的遗传方式。
