Abstract
Case Presentation: A 35-year-old woman with nonischemic cardiomyopathy, with a left ventricular ejection fraction <20% on home dobutamine, and chronic weakness was referred to our institution for heart transplantation evaluation. She was directly admitted to the hospital for suspected cardiogenic shock after her labs revealed a lactate level of 5.4 mmol/L. Her hospital course was complicated by persistently undulating lactate levels (0.2 - 8.6 mmol/L) that increased with exertion, despite normal mixed venous oxygen saturation measurements obtained from a pulmonary artery catheter. Serologic genetic testing was negative, and electromyography revealed the presence of a proximal and axial myopathy. A deltoid muscle biopsy was obtained, and genetic testing of the specimen revealed two mitochondrial deoxyribonucleic acid deletions, and electron microscopy revealed mitochondrial paracrystalline inclusions. She subsequently underwent left ventricular assist device placement and was started on carnitine, arginine, creatine, thiamine, and coenzyme Q10 supplementation. Despite left ventricular assist device placement, the patient has continued to decline due to progressive right heart failure and is currently being considered for cardiac transplantation. Discussion: Mitochondrial cardiomyopathy (MCM) is an alteration in cardiac structure and function caused by genetic defects of the mitochondrial respiratory chain, in the absence of other causes of heart failure. The true prevalence of MCM is unknown. Clinical manifestations in those with MCM present on a spectrum, ranging from asymptomatic cases to those with signs and symptoms typical of heart failure. Extra-cardiac features commonly include chronic weakness and fatigue. Diagnosis is made with prompt genetic testing and microscopic evaluation of a skeletal muscle biopsy specimen. Outcomes in patients who receive a left ventricular assist device are unknown and warrant further investigation.
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