肥厚型心肌病的诊断和防治进展

Advances in the diagnosis and treatment of hypertrophic cardiomyopathy

肥厚型心肌病(HCM)是由编码心肌肌节蛋白的基因突变所导致的最常见的遗传性心脏病,是青年人及运动员心原性猝死的主要原因。临床表现复杂多样,可表现为无症状、心绞痛、晕厥和猝死等。影像学诊断是目前HCM的主要诊断方法。治疗以缓解症状和防治并发症为主,包括药物治疗和非药物治疗。近年来,基因检测也逐渐应用于该病的早期诊断、危险分层、个体化治疗及优生优育。本文主要对HCM的诊断、治疗和早期预防等方面的研究进展进行综述。

Hypertrophic cardiomyopathy（ HCM） is the most common hereditary heart disease caused by mutations in genes encoding sarcomere protein,and is the leading cause of sudden cardiac death among young people and athletes. The clinical manifestations of HCM are complicated and diverse,can be present as asymptomatic,angina pectoris,syncope or sudden death. Imaging diagnosis is the main diagnostic method of HCM. Main treatment include symptoms alleviation and prevention complications,which can be classified as medication and non-medication treatment. In recent years,genetic testing has been gradually used for the early diagnosis,risk stratification,individualized treatment and prenatal care. The advances of diagnosis,treatment and early prevention of HCM will be reviewed in this article.