The characteristics of cardiac involvement in 113 patients with mitochondrial encephalomyopathy with lactic academia and stroke⁃like episodes

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.

Keywords

• melas syndrome
• heart diseases
• echocardiography