扩张型心肌病的研究进展

Advances in Research on Dilated Cardiomyopathy

摘要: 扩张型心肌病是一种以心室腔扩大和收缩功能逐渐下降为特征的心肌疾病，常导致充血性心力衰竭。扩张型心肌病具有明显的家族性特征，相关致病基因的突变约占扩张型心肌病患者的50%。随着对相关致病基因的研究日益深入，它无疑将为扩张型心肌病的治疗提供更多潜在靶点和治疗途径。扩张型心肌病易引发心力衰竭、心律失常甚至猝死，国内≥35岁成人患病人数约177万，病死率高。因此，准确且及时的临床诊断及治疗至关重要。目前，扩张型心肌病的诊断主要依赖于患者的实验室和影像学检测，基因检测的重要性日益受到重视。扩张型心肌病的治疗方法是药物治疗、心脏再同步治疗、心脏移植等等。本文通过参考现有的临床研究和实践，总结扩张型心肌病的病因、病理生理机制、诊断和治疗方法，为临床医生提供参考。

Abstract: Dilated cardiomyopathy is a myocardial disease characterized by the gradual enlargement of the ventricular cavity and the decline of systolic function, often leading to congestive heart failure. Dilated cardiomyopathy has a distinct familial trait, with mutations in related pathogenic genes accounting for approximately 50% of patients with dilated cardiomyopathy. As research on related pathogenic genes deepens, it will undoubtedly provide more potential targets and treatment approaches for the treatment of dilated cardiomyopathy. Dilated cardiomyopathy is prone to cause heart failure, arrhythmia, and even sudden death. In China, the number of adults aged 35 and above suffering from this disease is about 1.77 million, with a high mortality rate. Therefore, accurate and timely clinical diagnosis and treatment are of vital importance. Currently, the diagnosis of dilated cardiomyopathy mainly relies on laboratory and imaging tests of patients, and the importance of genetic testing is increasingly recognized. The treatment methods for dilated cardiomyopathy include drug therapy, cardiac resynchronization therapy, and heart transplantation, etc. This article summarizes the etiology, pathophysiological mechanism, diagnosis, and treatment methods of dilated cardiomyopathy by referring to existing clinical research and practice, providing a reference for clinicians.