Une cause de cardiomyopathie dilatée chez l'enfant: le déficit primaire en carnitine [A cause of dilated cardiomyopathy in child: primary carnitine deficiency].

Détails

ID Serval
serval:BIB_C4C08853D6F9
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Une cause de cardiomyopathie dilatée chez l'enfant: le déficit primaire en carnitine [A cause of dilated cardiomyopathy in child: primary carnitine deficiency].
Périodique
Annales de Cardiologie et d'Angéiologie
Auteur(s)
Baragou S., Pio M., Di Bernardo S., Ksontini T.B., Dommange S.J., Bonafe L., Meijboom E., Sekarski N.
ISSN
1768-3181 (Electronic)
ISSN-L
0003-3928
Statut éditorial
Publié
Date de publication
2014
Volume
63
Numéro
2
Pages
107-110
Langue
français
Notes
Publication types: English Abstract ; Journal ArticlePublication Status: ppublish. pdf type: fait clinique
Résumé
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.
Pubmed
Création de la notice
03/08/2014 14:59
Dernière modification de la notice
03/03/2018 21:14
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