title: [Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases].
abstract: OBJECTIVE
  Cardiomyopathy in childhood is a rare entity. Inborn errors of metabolism can cause myocardial involvement by several mechanisms.
  
  
  METHODS
  Patients under 16 years diagnosed with cardiomyopathy and EIM in a period of 11 years (1998-2009) were included.
  
  
  RESULTS
  A total of 12 patients were studied (8% of all cardiomyopathies), 9 boys and three girls, with a median age at diagnosis of 6 months (range: birth-8.8 years). Fifty percent had an onset with cardiac symptoms and heart failure was associated with an earlier diagnosis of the disease (P<.05). On ultrasound 10 patients had ventricular hypertrophy, which was associated with mitochondrial and lysosomal disease; only 2 patients had ventricular dilatation, which was associated with altered fatty acid metabolism (P<.05). The median survival was 5 months (range: 2-11 months). No variable was significantly associated with the likelihood of death.
  
  
  CONCLUSIONS
  Patients with heart failure at onset are diagnosed earlier (before 3 months of life). Echocardiography helps in the diagnosis and monitoring of metabolic disease.
authors.affiliation: Servicio de Pediatría, Hospital Universitari Vall d'Hebron, Barcelona, España. annasabaterotes@gmail.com
authors.forename: Anna
authors.initials: A
authors.lastname: Sabaté Rotés
authors.forename: Mireia
authors.initials: M
authors.lastname: Del Toro Riera
authors.forename: Dimpna C
authors.initials: DC
authors.lastname: Albert Brotons
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Arranz Amo
authors.forename: Antonio
authors.initials: A
authors.lastname: Carrascosa Lezcano
authors.forename: Josep
authors.initials: J
authors.lastname: Girona Comas
mesh_terms: D000367:Age Factors; D009202:Cardiomyopathies / Q000175:diagnosis / Q000209:etiology* / Q000401:mortality / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000401:mortality / Q000628:therapy; D012189:Retrospective Studies