摘要： 目的 总结线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）患者心脏病变特点。方法 纳入2010年1月至2019年12月北京大学第一医院收治的113例MELAS患者，通过心电图和超声心动图判断心脏病变类型和严重程度，纽约心脏协会（NYHA）分级和左心室射血分数评估心功能障碍和心脏收缩功能。结果 共113例患者来自112个家系，基因型以m.3243A > G为主（81.42%，92/113）。113例均行心电图检查，心脏传导异常14例（12.38%），包括预激综合征10例（8.85%）、完全右束支传导阻滞2例（1.77%）、不完全右束支传导阻滞1例（0.88%）和Ⅰ°房室传导阻滞1例（0.88%）；70例行超声心动图检查，心肌病变18例（25.71%），包括心肌损害13例（18.57%）、肺动脉高压5例（7.14%）；仅1例NYHA分级为Ⅱ级且伴左心室收缩功能下降。32例心脏病变患者中仅1例病程第7年出现活动后胸闷、憋气等心脏症状。结论 MELAS患者可伴发各种类型心脏病变，包括心肌病、心力衰竭、心律失常等，应重视心脏相关检查。

关键词: MELAS综合征, 心脏病, 超声心动描记术

Abstract: Objective To report the characteristics of cardiac involvement in a group of patients with mitochondrial encephalomyopathy with lactic academia and stroke-like episodes (MELAS). Methods A total of 113 patients with MELAS who were admitted to Peking University First Hospital from January 2010 to December 2019 were included. The type and severity of heart disease were judged by electrocardiogram (ECG) and echocardiography. Cardiac dysfunction and systolic function were assessed by New York Heart Association (NYHA) classification and left ventricular ejection fraction (LVEF). Results All 113 patients were from 112 families, and the main genotype was m. 3243 A > G (81.42%, 92/113). ECG was performed in 113 cases, among which 14 (12.38%) had abnormal cardiac conduction, including 10 (8.85%) with pre-excitation syndrome, 3 (2.65%) with complete or incomplete right bundle branch block, and one (0.88%) with Ⅰ ° atrioventricular block. Echocardiography was performed in 70 cases, among which 18 (25.71%) had myocardial lesions, including 13 (18.57%) with myocardial damage and 5 (7.14%) with pulmonary hypertension (PH). Only one case had NYHA Ⅱ with decreased left ventricular systolic function. In 32 patients with cardiac disease, only one patient presented cardiac symptoms in the 7th year of the course of disease. Conclusions MELAS patients may have various manifestations of cardiac involvement, including cardiomyopathy, heart failure, arrhythmia, and so on. Attention should be paid to cardiac-related examinations.

Key words: MELAS syndrome, Heart diseases, Echocardiography