Dilated cardiomyopathy presenting in childhood: aetiology, diagnostic approach, and clinical course.

Abstract OBJECTIVE: To determine the outcome of dilated cardiomyopathy presenting in childhood and the features that might be useful for prognostic stratification. METHODS: Retrospective study of 41 consecutive children affected by dilated cardiomyopathy - aged 0-14 years; median 33.4 plus or minus 49.25 - between 1993 and 2008. We reviewed the medical history to determine age at diagnosis, family history, previous viral illness, aetiology, symptoms and signs at presentation, treatment, and outcome. The diagnosis was made on the basis of cardiomegaly and evidence of poor left ventricular function by echocardiography. We also carried out a metabolic evaluation including blood lactate, pyruvate, carnitine, amino acids, urine organic acids, assessment of respiratory chain enzymes, and analysis of histopathological material. Survival curves were constructed by the Kaplan-Meier method. RESULTS: Follow-up ranged from 10 days to 162 months - median 45.25 plus or minus 41.15 months. Freedom from death or cardiac transplantation was 68.3% at 5 years. The primary end-point of death/cardiac transplantation was associated with the need for intravenous inotropic support. A trend towards a poorer prognosis was found for age at diagnosis of more than 5 years and for a metabolic aetiology of dilated cardiomyopathy. For the children affected by cardiomyopathy as part of a multi-system involvement, mortality was 50%. CONCLUSIONS: In children, dilated cardiomyopathy is a diverse disorder with outcomes that depend on cause, age, and cardiac failure status at presentation. Overt cardiac failure at presentation is a major prognostic factor for death or cardiac transplantation. Older age at presentation and metabolic aetiology may be associated with a poorer prognosis