title: [A cause of dilated cardiomyopathy in a child: primary carnitine deficiency].
abstract: OBJECTIVE
  The aim of this case report was to show the importance to research metabolic etiology, especially a carnitine deficiency in dilated cardiomyopathy of children.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.affiliation: Service de cardiologie, CHU Campus, BP 20773, Lomé, Togo. Electronic address: rbaragou@yahoo.fr.
authors.forename: S
authors.initials: S
authors.lastname: Baragou
authors.affiliation: Service de cardiologie, CHU Campus, BP 20773, Lomé, Togo.
authors.forename: M
authors.initials: M
authors.lastname: Pio
authors.affiliation: Service de pédiatrie moléculaire, CHUV Lausanne, Lausanne, Suisse.
authors.forename: S
authors.initials: S
authors.lastname: Di Bernardo
authors.affiliation: Service de pédiatrie moléculaire, CHUV Lausanne, Lausanne, Suisse.
authors.forename: T Boulos
authors.initials: TB
authors.lastname: Ksontini
authors.affiliation: Service de cardiologie pédiatrique, CHUV Lausanne, Lausanne, Suisse.
authors.forename: S Jiekak
authors.initials: SJ
authors.lastname: Dommange
authors.affiliation: Service de cardiologie pédiatrique, CHUV Lausanne, Lausanne, Suisse.
authors.forename: L
authors.initials: L
authors.lastname: Bonafe
authors.affiliation: Service de pédiatrie moléculaire, CHUV Lausanne, Lausanne, Suisse.
authors.forename: E
authors.initials: E
authors.lastname: Meijboom
authors.affiliation: Service de pédiatrie moléculaire, CHUV Lausanne, Lausanne, Suisse.
authors.forename: N
authors.initials: N
authors.lastname: Sekarski
mesh_terms: D015415:Biomarkers / Q000097:blood; D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D002331:Carnitine / Q000008:administration & dosage / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use; D002675:Child, Preschool; D004417:Dyspnea / Q000209:etiology; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D011379:Prognosis; D000074058:Solute Carrier Family 22 Member 5; D013997:Time Factors; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000008:administration & dosage / Q000627:therapeutic use
chemical_list: D015415:Biomarkers; D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D014803:Vitamin B Complex; D002331:Carnitine