Sporadic dilated cardiomyopathy is often familial.
Sporadic dilated cardiomyopathy is often familial.
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散发性扩张型心肌病通常具有家族性。
DOI：
10.1093/cvr/cvac075
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发表时间：
2022
影响因子：
10.8
通讯作者：
Marian,AliJ
中科院分区：
文献类型：
--
作者：
Marian,AliJ
心肌病这个术语指的是一种心肌疾病。心肌是一种细胞异质结构，心肌细胞约占细胞的三分之一。1在作者看来，心肌病是心肌细胞的疾病，无论是遗传的还是其他的，都存在原发性缺陷。因此，由其他细胞类型（如心肌成纤维细胞、内皮细胞和平滑肌细胞）的功能障碍引起的心肌疾病不被认为是心肌病。同样，在负荷改变状态下，如全身性动脉高压或瓣膜性心脏病，以及在缺血状态下，如冠状动脉疾病，心肌的受累与心肌病不同。在这些情况下，原发疾病不在心肌细胞，心肌细胞的受累是继发性的。然而，值得注意的是，心肌病的表型是心肌多种细胞成分之间相互交织、非线性和随机相互作用的结果，也是这些细胞与外部和环境因素相互作用的结果。考虑到上述纯粹的定义，每当原发性缺陷或损伤对心肌细胞收缩功能产生负面影响时，心脏扩张和收缩力降低就会随之而来，这两者共同定义了扩张型心肌病（DCM）。DCM的诱发缺陷通常是突变（原发性DCM），除非DCM是用毒性药物、感染和其他继发原因治疗的后遗症。由于参与维持心脏正常结构和功能的基因和途径的复杂性，原发性DCM是一种遗传异质性疾病。超过100个基因与DCM的发病机制有关，尽管其中几个基因的因果作用还没有定论。尽管在过去的三十年中有了显著的发现，但很大一部分DCM病例的致病基因仍然未知。
The term cardiomyopathy denotes a myocardial disease. The myocardium is a cellularly heterogeneous structure, with cardiac myocytes comprising about a third of the cells. 1 Cardiomyopathy, in the author’s opinion, is the disease of cardiac myocytes where the primary defect, whether genetic or otherwise, resides. Consequently, myocardial diseases arising from dysfunctions of other cell types, such as cardiac fibroblasts, endothelial cells, and smooth muscle cells, are not considered cardiomyopathies. Similarly, involvement of the myocardium in the altered loading states, such as systemic arterial hypertension or valvular heart disease, and in ischaemic conditions, such as coronary artery disease, is distinct from cardiomyopathies. In these conditions, the primary disorder is not in cardiac myocytes, and involvement of cardiac myocytes is secondary. Nevertheless, it is important to note that the phenotype in cardiomyopathies is the consequence of intertwined, non-linear, and stochastic interactions among multiple cellular constituents of the myocardium as well as the interactions of these cells with the external and environmental factors.With the above purist definition in mind, whenever the primary defect or insult negatively affects myocyte contractile function, cardiac dilatation, and reduced contractility ensue, which together define dilated cardiomyopathy (DCM). The instigating defect in DCM is typically a mutation (primary DCM) unless DCM is a sequela of treatment with toxic agents, infection, and other secondary causes. In accord with the complexity of the genes and pathways involved in maintaining the proper cardiac structure and function, primary DCM is a genetically heterogeneous disease. Over 100 genes are implicated in the pathogenesis of DCM, albeit evidence for the causal role of several is not conclusive. 2 Despite the remarkable discoveries during the last three decades, the causal genes in a significant fraction of the DCM cases have remained unknown.