Skip Navigation

European Heart Journal 1998 19(5):790-793; doi:10.1053/euhj.1997.0818
Copyright © 1998 by the European Society of Cardiology.
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow E-letters: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when E-letters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (16)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Bonnet, D.
Right arrow Articles by Sidi, D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Bonnet, D.
Right arrow Articles by Sidi, D.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 PediatricsHome page
G. F. Cox, L. A. Sleeper, A. M. Lowe, J. A. Towbin, S. D. Colan, E. J. Orav, P. R. Lurie, J. E. Messere, J. D. Wilkinson, and S. E. Lipshultz
Factors Associated With Establishing a Causal Diagnosis for Children With Cardiomyopathy
Pediatrics, October 1, 2006; 118(4): 1519 - 1531.
[Abstract] [Full Text] [PDF]

Home page
 HeartHome page
N Amabile, A Fraisse, J Bouvenot, P Chetaille, and C Ovaert
Outcome of acute fulminant myocarditis in children
Heart, September 1, 2006; 92(9): 1269 - 1273.
[Abstract] [Full Text] [PDF]

Home page
 NeoReviewsHome page
D. N. Rosenthal
Cardiomyopathy in Infants: A Brief Overview
NeoReviews, August 1, 2000; 1(8): e139 - 145.
[Full Text]

Home page
 CirculationHome page
D. Bonnet, D. Martin, Pascale de Lonlay, E. Villain, P. Jouvet, D. Rabier, M. Brivet, and J.-M. Saudubray
Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children
Circulation, November 30, 1999; 100(22): 2248 - 2253.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.