Abstract
Primary carnitine deficiency (PCD) is an autosomal recessive disorder characterized by decreased carnitine levels essential for Beta oxidation in various organs, including the heart. Early diagnosis and treatment of PCD can revert cardiomyopathy. A 13-year-old girl presented with heart failure due to dilated cardiomyopathy and severe cardiac dysfunction; following L carnitine treatment, the patient's clinical conditions improved, and cardiac functions returned to normal within weeks. Investigations revealed PCD; regular L carnitine has been provided, all cardiac medications are discontinued, and the patient is doing well. We believe PCD should be ruled out in every patient with cardiomyopathy.
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