Abstract

An 18-year-old man experienced refractory cardiogenic shock due to dilated cardiomyopathy of unknown aetiology, and was referred to our hospital to undergo a paracorporeal left ventricular assist device (LVAD) implantation. After surgery, the patient lost consciousness, with subsequent head computed tomography revealing low-density areas in the bilateral basal ganglia. Metabolic acidosis and hyperammonaemia also appeared. Metabolic evaluation and genetic tests led to a diagnosis of propionic acidemia. Following appropriate management of heart failure and propionic acidemia, his neurological and cardiac functions gradually recovered, and the paracorporeal LVAD was successfully explanted. Dilated cardiomyopathy and heart failure are rare manifestations of adult-onset propionic acidemia. This is the first reported case of cardiogenic shock due to propionic acidemia-associated cardiomyopathy successfully treated with a combination of mechanical circulatory support and medical therapy for heart failure and propionic acidemia.