摘要
肥厚型心肌病(Hypertrophic cardiomyopathy, HCM)是一种常见的世界性遗传性心肌病,其主要的原因是肌小节蛋白编码基因(或肌小节蛋白相关基因)变异,导致左心室心肌肥厚、纤维化、收缩性增强和顺应性降低。HCM是最常见的遗传性单基因心脏疾病,全球平均约有0.20% (1/500)的人口深受HCM的影响。随着医疗技术的发展,对HCM的诊断方法也越来越多,新的治疗手段也随之出现,但现有的治疗方案仍无法根治HCM,仅仅以减轻症状为主。本文结合最新相关研究,对HCM的诊断、预后及治疗进行系统阐述,以增进对疾病的认识。
Hypertrophic cardiomyopathy (HCM) is a common worldwide inherited cardiomyopathy caused by mutations in the myodon-coding gene (or myodonin-related gene) that results in left ventricular myocardial hypertrophy, fibrosis, increased contractility, and decreased compliance. HCM is the most common inherited monogenic heart disease, affecting an average of about 0.20% (1 in 500) of the global population. With the development of medical technology, there are more and more diag-nostic methods for HCM, and new treatment methods have emerged, but the existing treatment op-tions still cannot cure HCM, only to reduce symptoms. This article systematically elaborates the di-agnosis, prognosis and treatment of HCM based on the latest relevant studies to improve the under-standing of disease awareness and research progress.
出处
《临床医学进展》
2023年第9期14695-14700,共6页
Advances in Clinical Medicine
