A Case Report of a Clinically Suspected Diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome With Cardiac Impairment

Abstract

This case report presents a description of a hypertrophic left ventricle with reduced ejection fraction in a man in his mid-twenties with clinical, radiologic, and biochemical features of a rare syndrome called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). A literature review of this uncommon syndrome and MELAS cardiomyopathy has been conducted.

Keywords: cardiology imaging; cardiomyopathy; genetic syndromes; heart failure; hyperlactatemia; maternal inheritance; melas; melas cardiomyopathy; mitochondrial disorder; rare diseases.