Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder caused by mutations in mitochondrial DNA, the most common one being the m.3243A>G mutation. MELAS affects multiple organ systems, with cardiomyopathy and metabolic decompensation contributing to significant morbidity and mortality.

Our case focuses on a 44-year-old male with MELAS who developed cardiogenic shock, multiorgan failure, and metabolic derangements after a three-day history of nonspecific symptoms. His condition rapidly deteriorated, and he required intensive metabolic stabilization, respiratory support, and renal replacement therapy. Despite targeted mitochondrial support therapy, including intravenous L-arginine, Coenzyme Q10, and nutritional optimization, the patient succumbed due to progressive organ failure.

This case underscores the challenges of managing MELAS-related metabolic crises; we thus discuss the potential role of emerging therapies such as ATP supplementation, EPI-743, and IV nicotinamide in improving outcomes in this patient population. Further research into targeted mitochondrial therapies is necessary in order to address the high mortality associated with MELAS-related cardiogenic shock.