Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome

Diagnostics (Basel). 2021 Feb 12;11(2):295. doi: 10.3390/diagnostics11020295.

Abstract

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is an uncommon cause of cardiac hypertrophy, fibrosis, and dysfunction. It shares similar features to numerous other causes of left ventricular hypertrophy, and therefore, because of its rarity, may not be immediately considered as a diagnosis. Prompt recognition of clinical and cardiac imaging features may expedite diagnosis and management. We report the case of a 38-year-old man admitted with neurological symptoms and in whom the diagnostic workup led to the diagnosis of MELAS syndrome with cardiac involvement.

Keywords: MELAS syndrome; cardiac magnetic resonance; hypertrophic cardiomyopathy; left ventricular hypertrophy.