Abstract
The clinical course of a 4-month-old male infant with a dilated cardiomyopathy secondary to renal tubular losses of carnitine is outlined. He was admitted to the hospital with severe congestive heart failure. An echocardiogram demonstrated normal anatomy. The left ventricular shortening fraction measured 10%. A comprehensive cardiomyopathy evaluation was initiated.
The total plasma carnitine level was only 25 μmol/ml, but the urine carnitine measured 434 nm/mg of creatinine. He was begun on orall-carnitine and weaned from mechanical ventilation and inotropic support 10 days later. Two years later he remains asymptomatic with normal left ventricular function.
Similar content being viewed by others
References
Engel AJ, Rebouche CJ, Wilson DM, et al (1981) Primary systemic carnitine deficiency.Neurology 31:819–895
Rebauche CJ, Engel AJ (1983) Carnitine metabolism and deficiency syndromes.Mayo Clin Proc 58:533–540
Toshihiro I, Sherwood G, Benson LN, et al (1988) Cardiac manifestations in disorders of fat and carnitine metabolism in infancy.J Am Coll Cardiol 11:1301–1308
Tripp ME, Katcher ML, Peters HA, et al (1981)N Engl J Med 305:385–390
Waber LF, Valle D, Neill C, DiMauro S, Shug A (1982) Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.J Pediatr 101:700–705
Winter SC, Szabo-Aczel S, Curry CJR, et al (1987) Plasma carnitine deficiency: clinical observations in 51 pediatric patients.Am J Dis Child 141:660–665
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Zales, V.R., Benson, D.W. Reversible cardiomyopathy due to carnitine deficiency from renal tubular wasting. Pediatr Cardiol 16, 76–78 (1995). https://doi.org/10.1007/BF00796822
Issue Date:
DOI: https://doi.org/10.1007/BF00796822