[Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases].

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.
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