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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A cause of dilated cardiomyopathy in child: Primary carnitine deficiency
Annales de Cardiologie et d'Angeiologie, Volume 63, No. 2, Year 2014
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Description
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: 3. μmol/L (N: 18-48. μmol/L) and 5. μmol/l (N: 29-70. μmol/L) respectively. Mutation analysis of the gene SLC22A5 confirms the diagnosis of primary systemic carnitine deficiency. Treatment with oral carnitine was started at 200. mg/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. © 2011 Elsevier Masson SAS.
Authors & Co-Authors
Baragou, Soodougoua
Togo, Lome
Service de Cardiologie
Pio, Machihuede
Togo, Lome
Service de Cardiologie
Di Bernardo, S.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Ksontini, T. Boulos
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Dommange, S. Jiekak
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Bonafé, Luisa
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Meijboom, E. J.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Sekarski, N.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Statistics
Citations: 8
Authors: 8
Affiliations: 2
Identifiers
Doi:
10.1016/j.ancard.2011.12.006
ISSN:
00033928
e-ISSN:
17683181
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases