EFFICIENCY OF METABOLIC SCREENING IN CHILDHOOD CARDIOMYOPATHIES

Aim To estimate the efficiency of metabolic screening in children's ca rdiomyopathy. Methods and Results Blood glucose, lactate, pyruvate and ketone body, and carnitine levels were measured in 58 children referr ed with a cardiomyopathy of unknown origin. Organic acids, amino acids , oxidation of [1-C-14] fatty acids to CO2 and dehydrogenation of[9,10 (-3)H] fatty acids by lymphocytes were measured. Mitochondrial respira tory chain complex activity was measured in skeletal muscle and in end omyocardial biopsies. Acid alpha-glucosidase activity was measured in infants with hypertrophic cardiomyopathy. The prevalence of metabolic disorders was 22.4% (13/58-CL95%: 11.4-33.3%): four infants had a stor age disease (Pompe's disease (3), Hurler's disease (1); two patients h ad a fatty acid beta-oxidation defect (systemic carnitine deficiency ( 1) and very-long chain acyl-CoA dehydrogenase deficiency (1)); respira tory enzyme deficiency was diagnosed in seven patients. This defect wa s confined to the myocardium in six. In the remaining 45 patients, met abolic screening was unrevealing. Conclusion Metabolic screening shoul d be performed in all children with cardiomyopathy as the prevalence o f metabolic disorders is high in this population. This may help to def ine therapeutic strategy and to improve genetic counselling.