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Dilated cardiomyopathy

KEGG ID: hsa05414

中文名称

扩张型心肌病

通路描述

扩张型心肌病(DCM)是一种以左心室或双心室扩大和收缩功能受损为特征的心肌病,导致进行性心力衰竭和从心室心律失常引起的猝死。已发现25-35%的DCM患者呈遗传性形式(“家族性”DCM),遗传基因缺陷是“家族性”DCM的重要原因。病理生理可分为两类:力生成缺陷和力传递缺陷。在无法确定潜在病理的情况下,患者被诊断为“特发性”DCM。关于“特发性”DCM病因的当前假设集中在由肠道病毒引起的心肌炎和随后的自身免疫性心肌损害。检测到的β1-肾上腺素能受体(β1AR)抗体在大量“特发性”DCM患者中检出,可能增加细胞内cAMP和细胞内钙离子浓度,这通常导致心脏暂时超功能,随后出现心脏功能下降和心力衰竭。
英文描述
Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure.

所含基因

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