Department of Cardiology, West China Hospital, Sichuan University, Chengdu, China.
ESC Heart Fail. 2023 Feb;10(1):705-708. doi: 10.1002/ehf2.14185. Epub 2022 Sep 30.
Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular disease that is inherited from a single gene. Its clinical manifestations range from asymptomatic mutant gene carriers to patients with severe left ventricular effluent tract obstruction and end-stage HCM with motor restriction. In this case, we present a patient with the main presentation of heart failure and ST-segment elevation of the lateral wall, as determined by electrocardiogram. The patient was finally diagnosed with HCM because of genetic testing and the presentation of extensive myocardial fibrosis with reduced systolic function on cardiac magnetic resonance imaging. The patient's clinical findings, electrocardiogram, and cardiac magnetic resonance imaging were different from those of typical patients with HCM.
肥厚型心肌病（HCM）是最常见的单基因遗传性心血管疾病。其临床表现范围从无症状的突变基因携带者到严重的左心室流出道梗阻患者和伴有运动受限的终末期 HCM。在这种情况下，我们介绍了一位主要表现为心力衰竭和心电图外侧壁 ST 段抬高的患者。最终，该患者通过基因检测和心脏磁共振成像显示广泛的心肌纤维化和收缩功能降低而被诊断为 HCM。该患者的临床表现、心电图和心脏磁共振成像与典型的 HCM 患者不同。
