Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Abstract A 36-year-old man with diabetes mellitus on dialysis due to renal failure was admitted to our hospital for cardiovascular examination. His echocardiogram demonstrated marked left ventricular hypertrophy. A muscle biopsy revealed the presence of a mitochondrial DNA mutation (A3243G), leading to the diagnosis of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). Although it is rare for patients with mitochondrial disease to be referred to a cardiologist, mitochondrial cardiomyopathy must remain in the differential diagnosis of hypertrophic cardiomyopathy of unknown origin.