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European Heart Journal 1998 19(5):790-793; doi:10.1053/euhj.1997.0818
Copyright © 1998 by the European Society of Cardiology.
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Efficiency of metabolic screening in childhood cardiomyopathies

D. Bonnetabc, P. de Lonlaybc, I. Gautierabc, P. Rustinbc, A. Rötigbc, J. Kachanera, P. Acara, J. LeBidoisa, A. Munnichbc and D. Sidia

a Service de Cardiologie Pédiatrique, Hôpital Necker/Enfants Malades, Paris, France
b Unité de Recherches sur les Handicaps Génétiques de l’Enfant, Hôpital Necker/Enfants Malades, Paris, France
c Département de Génétique, Hôpital Necker/Enfants Malades, Paris, France

accepted October 13, 1997

Aim

To estimate the efficiency of metabolic screening in children’s cardiomyopathy.

Methods and Results

Blood glucose, lactate, pyruvate and ketone body, and carnitine levels were measured in 58 children referred with a cardiomyopathy of unknown origin. Organic acids, amino acids, oxidation of [1-14C] fatty acids to CO2and dehydrogenation of [9,10–3H] fatty acids by lymphocytes were measured. Mitochondrial respiratory chain complex activity was measured in skeletal muscle and in endomyocardial 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 storage disease (Pompe’s disease (3), Hurler’s disease (1); two patients had a fatty acid ß-oxidation defect (systemic carnitine deficiency (1) and very-long chain acyl-CoA dehydrogenase deficiency (1)); respiratory enzyme deficiency was diagnosed in seven patients. This defect was confined to the myocardium in six. In the remaining 45 patients, metabolic screening was unrevealing.

Conclusion

Metabolic screening should be performed in all children with cardiomyopathy as the prevalence of metabolic disorders is high in this population. This may help to define therapeutic strategy and to improve genetic counselling.

Key Words: Cardiomyopathy • metabolism • children • mitochondria

Correspondence: Dr Damien Bonnet, Service de Cardiologie Pédiatrique, Hôpital Necker/Enfants Malades, 149, rue de Sèvres 75015 Paris, France.


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