From the Department of Medicine, Universidad Autónoma de Guadalajara School of Medicine, Guadalajara, Jalisco, Mexico, Department of Medicine, American University of Integrative Sciences, Tucker, Georgia, Department of Medicine, University of Pittsburgh Medical Center Western Maryland Health System, Cumberland, Maryland, Tianjin Medical University, Tianjin, P.R. China, GMERS Medical College, Gandhinagar, Gujarat, India, Department of Cardiology, School of Medicine University of Missouri, Columbia, Missouri, and Department of Internal Medicine, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania.
South Med J. 2022 Dec;115(12):926-929. doi: 10.14423/SMJ.0000000000001478.
Hypertrophic cardiomyopathy (HCM) is a genetic autosomal dominant disorder of the heart muscle that is characterized by left ventricular hypertrophy and sudden cardiac death. It is the most common inherited cardiac disease. HCM is defined by sarcomeric mutations that result in fibrosis of the heart, affecting contraction. In most cases, clinical presentations can range from asymptomatic to systolic and diastolic ventricular dysfunction, arrhythmias, and sudden cardiac death. Some histopathologic features typical of the disease are changes in myocyte disarray and myocardial fibrosis. Mutations in the β-myosin heavy chain and myosin-binding protein C have been identified as the cause of the disease. The goals of pharmacological therapy as well as nonpharmacological therapy are to alleviate the symptoms and to prevent sudden cardiac death. Anatomical defects are treated primarily by surgical intervention, whereas other issues such as hypercontractility are treated with pharmacotherapy. In this article, we review the pathophysiology and treatment options for HCM.
肥厚型心肌病（HCM）是一种遗传性常染色体显性心脏肌肉疾病，其特征为左心室肥厚和心脏性猝死。它是最常见的遗传性心脏病。HCM 由肌节突变定义，导致心脏纤维化，影响收缩。在大多数情况下，临床表现可以从无症状到收缩和舒张心室功能障碍、心律失常和心脏性猝死不等。该疾病的一些典型组织病理学特征是肌细胞排列紊乱和心肌纤维化的改变。β-肌球蛋白重链和肌球蛋白结合蛋白 C 的突变已被确定为疾病的原因。药物治疗和非药物治疗的目标是缓解症状和预防心脏性猝死。解剖缺陷主要通过手术干预治疗，而其他问题如高收缩性则用药物治疗。在本文中，我们回顾了 HCM 的病理生理学和治疗选择。
