Department of Cardiology, Xuzhou Hospital of Traditional Chinese Medicine, Xuzhou, Jiangsu, China.
Eur Rev Med Pharmacol Sci. 2017 Nov;21(22):5207-5210. doi: 10.26355/eurrev_201711_13841.
Hypertrophic cardiomyopathy (HCM) is a complex but common monogenic cardiovascular disorder characterized by unexplained non dilated left ventricular (LV) thickening in the absence of another cardiac or systemic disease. The condition is associated with sudden and unexpected death in young individuals including trained athletes. HCM represents a genetic disorder caused by mutations in genes encoding sarcomeric proteins of the cardiac myocyte. This review article discusses the genetics behind HCM, its clinical presentation, and diagnosis and the present-day pharmacological management of HCM.
肥厚型心肌病(HCM)是一种复杂但常见的单基因心血管疾病,其特征是在没有其他心脏或系统性疾病的情况下,左心室(LV)出现不明原因的非扩张性增厚。这种情况与年轻个体(包括训练有素的运动员)的突然和意外死亡有关。HCM 是一种由编码心肌细胞肌节蛋白的基因突变引起的遗传疾病。本文讨论了 HCM 的遗传学基础、临床表现、诊断以及目前 HCM 的药理学治疗方法。