Dilated cardiomyopathy due to primary carnitine deficiency (Q95467)

Dilated cardiomyopathy due to carnitine deficiency is the presence of dilated cardiomyopathy in association with a fatty acid oxidation disorder due to a defect in the carnitine-dependent transport of long chain fatty acids (carnitine transporter deficiency; SLC22A5 gene mutation). This autosomal recessive condition responds well to treatment with oral L-carnitine.