[A cause of dilated cardiomyopathy in a child: primary carnitine deficiency].

Abstract

AIM:

The aim of this case report was to show the importance to research metabolic etiology, especially a carnitine deficiency in dilated cardiomyopathy of children.

CASE REPORT:

A three years old Togolese child presented muscular hypotonia, dyspnea. Examination showed left galop murmur and systolic murmur 2/6. Chest X-ray showed cardiomegaly (CTI: 0.66), electrocardiogram, a sinusal rythm, left ventricle hypertrophy and T wave abnormalities. Echocardiogram showed a markedly dilated left ventricle with reduced systolic function (EF: 0.43; reference range 0.55-0.80) and moderate mitral regurgitation. The inflammatory signs where negatives. Magnetic resonance imaging don't show signs of ischemic or myocarditis. The levels of free and total plasmatic carnitine decreased: 3μmol/L (N: 18-48μmol/L) and 5μmol/l (N: 29-70μmol/L) respectively. Mutation analysis of the gene SLC22A5 confirms the diagnosis of primary systemic carnitine deficiency. Treatment with oral carnitine was started at 200mg/kg per day. Within three weeks of treatment, we observed the decrease of all symptoms and the left ventricular size and function normalized (EF: 0.62). He has now been on oral carnitine for live.

CONCLUSION:

Primary carnitine deficiency is a cause of dilated cardiomyopathy in child. It must systematically be suspected when a child presents a primitive cardiomyopathy. The treatment with oral carnitine for live is simple, with excellent prognosis.

• Authors: S Baragou, M Pio, S Di Bernardo, T Boulos Ksontini, S Jiekak Dommange, L Bonafe, E Meijboom, N Sekarski
• Journal: Annales de cardiologie et d'angeiologie (Ann Cardiol Angeiol (Paris)) Vol. 63 Issue 2 Pg. 107-10 (Apr 2014) ISSN: 1768-3181 [Electronic] France
• Vernacular Title: Une cause de cardiomyopathie dilatée chez l'enfant: le déficit primaire en carnitine.
• PMID: 22260907 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Chemical References

• Biomarkers
• Organic Cation Transport Proteins
• SLC22A5 protein, human
• Solute Carrier Family 22 Member 5
• Vitamin B Complex
• Carnitine

Topics

• Biomarkers (blood)
• Cardiomyopathies (complications, diagnosis, drug therapy, genetics)
• Cardiomyopathy, Dilated (diagnosis, drug therapy, etiology, genetics)
• Carnitine (administration & dosage, deficiency, genetics, therapeutic use)
• Child, Preschool
• Dyspnea (etiology)
• Humans
• Hyperammonemia (complications, diagnosis, drug therapy, genetics)
• Male
• Muscular Diseases (complications, diagnosis, drug therapy, genetics)
• Mutation
• Organic Cation Transport Proteins (genetics)
• Prognosis
• Solute Carrier Family 22 Member 5
• Time Factors
• Treatment Outcome
• Vitamin B Complex (administration & dosage, therapeutic use)