MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.

Category Primary study
JournalCase reports in cardiology
Year 2016
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.
Epistemonikos ID: ed1e96f1fdf84d22da4e27e3c4d135c60b7b6105
First added on: Apr 21, 2023