Two female siblings with dilated cardiomyopathy due to primary systemic carnitine deficiency

Dilated cardiomyopathy is one of the leading causes of mortality and morbidity of cardiac origin in childhood. The etiology of pediatric cardiomyopathy remains undetermined in most cases. Some of dilated or hypertrophic cardiomyopathies with early onset may be due to primary systemic carnitine deficiency and give good response to replacement therapy. We herein report two female siblings, ten and two years old, who were diagnosed to have dilated cardiomyopathy due to primary systemic carnitine deficiency and whose cardiac functions completely recovered shortly after replacement therapy.