肥厚型心肌病发病机制及治疗进展

Pathogenesis and treatment progress of hypertrophic cardiomyopathy

肥厚型心肌病(hypetrophic cardiomyopathy,HCM)是单基因常染色体显性遗传病,临床表现复杂多样,包括无症状、心绞痛、晕厥、猝死等,其治疗以缓解症状和防止并发症为主。近年来,HCM在基础和临床研究方面取得了长足的进展,尤其是分子生物学领域。现已证实HCM是一种单基因遗传性疾病。本文旨在对HCM的发病机制及治疗领域的研究进展做一综述。

Hypertrophic cardiomyopathy is a monogenic autosomal dominant inherited disease with various clinical manifestations, inclu-ding symptomless, angina pectoris, syncope, sudden death and so on. The treatment of HCM is mainly focus on relieving symptoms and preventing complications. In recent years, great progress has been made at the field of basic and clinical research underlying HCM, especially in molecular biology. HCM has been proved to be a single genetic disease. This article aims to review the research progress in the pathogenesis and treatment of HCM.