[Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases]. / Miocardiopatía en niños con errores innatos del metabolismo: descripción de 12 casos.
Med Clin (Barc)
; 137(13): 596-9, 2011 Nov 19.
Article
en Es
| MEDLINE
| ID: mdl-21955540
BACKGROUND AND OBJECTIVE: Cardiomyopathy in childhood is a rare entity. Inborn errors of metabolism can cause myocardial involvement by several mechanisms. PATIENTS AND 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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo
/
Cardiomiopatías
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
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Risk_factors_studies
Límite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
Es
Revista:
Med Clin (Barc)
Año:
2011
Tipo del documento:
Article
Pais de publicación:
España