DOI: 10.36347/sjmcr.2023.v11i10.006

Pages: 1743-1746

Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid beta-oxidation. Which results from a defect in the transport of carnitine and is one of the rare treatable etiologies of metabolic cardiomyopathies. Affected patients may present with acute metabolic decompensation in infancy or severe cardiomyopathy in childhood. There have also been reports of dramatic sudden infant death syndrome. Early disease detection and treatment with L-carnitine can be lifesaving. We present in this report, a severe case of decompensation of previously undiagnosed dilated cardiomyopathy in a 14-year-old boy, who presented to the pediatric emergency department with acute heart failure, initially suspected to be viral myocarditis. Chest x-ray showed cardiomegaly, echocardiographic findings included hypokinetic dilated cardiomyopathy with reduced ejection fraction at 22%, the respiratory multiplex PCR came back in favor of a SARS-CoV-2 infection, Laboratory test results showed hepatic failure and a low rate of free and total plasma carnitine. His clinical condition deteriorated rapidly, with the onset of cardiogenic shock leading up to his death in the intensive care unit before carnitine therapy was initiated. The aim of this case report is to highlight the importance of searching for a metabolic cause, particularly primary carnitine deficiency, for early treatment and improved prognosis of the disease.