MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

Abstract EN

A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis.

Left ventricular hypertrophy and myocardial fibrosis were detected.

The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNALeu(UUR) gene.

Diagnosis of cardiac involvement in a patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) was made.

Due to increased risk of sudden cardiac death, cardioverter defibrillator was implanted.