Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
JACC Heart Fail. 2018 May;6(5):364-375. doi: 10.1016/j.jchf.2018.02.010. Epub 2018 Apr 11.
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM.
肥厚型心肌病（HCM）是最常见的遗传性心肌病，表现为左心室肥厚，而无继发性原因。HCM 的遗传基础主要源于肌节蛋白的突变；然而，具体的潜在突变通常仍未确定。患者的临床表现表现出明显的多样性，从无症状到心力衰竭或心源性猝死不等。左心室肥厚和心室构型异常导致大多数患者出现左心室流出道动态梗阻。治疗干预的主要目标是减少动态梗阻，治疗方式包括生活方式改变、药物治疗和室间隔减少治疗。一小部分 HCM 患者会经历心源性猝死，风险分层仍然是一个临床挑战。本文介绍了 HCM 患者的诊断、家族筛查、临床影像学、风险分层和症状管理的临床更新。
