Incidental finding of MELAS in a young woman with decompensated heart failure and end stage kidney disease: a case report

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare and progressive mitochondrial disorder characterized by multi-systemic involvement. This disease manifests in various clinical manifestations, with heart and kidney disorders being among the most common. Accurate diagnosis of MELAS often necessitates a range of complex investigations. Prompt and comprehensive management can significantly improve the prognosis of the disease.

A 40-year-old female presented with elevated blood pressure (BP) associated with shortness of breath prior to dialysis. She was found to be hypertensive with a systolic BP of 190 mmHg with prominent signs of congestion. Laboratory examination showed elevated troponin and NT-proBNP. Arterial blood gas revealed severe lactic acidosis, which prompted urgent dialysis. On the latest admission, an echocardiogram showed a left ventricular ejection fraction of 50% with much thickened myocardium compared with the previous study. Linking the past history of hearing impairment, kidney disease, giddiness, and progression of myocardial thickness warranted a genetic test, which revealed the diagnosis of MELAS.

This case involved a patient initially diagnosed with hypertensive heart disease based on asymptomatic left ventricular hypertrophy. Further deterioration led to the identification of MELAS syndrome through extensive diagnostic evaluation. This highlights the importance of considering mitochondrial diseases in unexplained cardiac symptoms, especially in younger patients, for timely and appropriate management.