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Cardiomyopathy in congenital disorders of glycosylation

Published online by Cambridge University Press:  24 May 2005

Josef Gehrmann ,
Kristina Sohlbach ,
Michael Linnebank ,
Hans-Josef Böhles ,
Stephan Buderus ,
Hans Gerd Kehl ,
Johannes Vogt ,
Erik Harms  and
Thorsten Marquardt
Josef Gehrmann
Affiliation:
Department of Pediatric Cardiology, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany
Kristina Sohlbach
Affiliation:
Department of Pediatrics, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany
Michael Linnebank
Affiliation:
Department of Pediatrics, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany
Hans-Josef Böhles
Affiliation:
Department of Pediatrics, Johann Wolfgang Goethe-Universitat, Frankfurt/Main, Bonn, Germany
Stephan Buderus
Affiliation:
Department of Pediatrics, Rheinische Friedrich-Wilhelms-Universität, Bonn, Germany
Hans Gerd Kehl
Affiliation:
Department of Pediatric Cardiology, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany
Johannes Vogt
Affiliation:
Department of Pediatric Cardiology, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany
Erik Harms
Affiliation:
Department of Pediatrics, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany
Thorsten Marquardt
Affiliation:
Department of Pediatrics, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany
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Abstract

Congenital disorders of glycosylation are a group of inherited metabolic multisystem disorders characterized by defects in the glycosylation of proteins and lipids. In most cases, neuromuscular disease is present. The purpose of this study was to characterize the cardiological aspects in this disorder.

From the literature, we identified six children with congenital disorders of glycosylation associated with cardiac disease. We then screened for cardiovascular manifestations 20 patients diagnosed with congenital disorders of glycosylation at our own institution.

Of the 6 patients identified in the literature, 4 had hypertrophic cardiomyopathy, while in the other 2 the cardiac diagnosis was unclear. The mean age at cardiac diagnosis was 5 months, with a range from 34 weeks to 24 months. Of the patients, five had died at a mean age of 3.5 months, with a range from 1.5 to 6 months, with one documented cardiac death. Three of our 20 patients (15%) had coexistent cardiomyopathy, and in three additional patients presenting with cardiomyopathy we made the diagnosis of a congenital disorder of glycosylation. In our cohort, dilated cardiomyopathy was found in two-thirds of the patients, with hypertrophic cardiomyopathy in the other third. The mean age at cardiac diagnosis was 19 months, with a range from 0.5 to 84 months. Of these patients, two died in infancy at a mean age of 4 months, specifically at 1.5 and 7 months, due to cardiac disease, with one dying suddenly. The remaining four patients are alive with minor to severe cardiac dysfunction.

We conclude that congenital disorders of glycosylation have to be considered in the differential diagnosis of children presenting with cardiomyopathy, and that all patients with congenital disorders of glycosylation should be screened for an associated cardiomyopathy. Cardiac involvement contributes significantly to morbidity and mortality, and probably to sudden cardiac death in this disorder.

Keywords

Hypertrophic cardiomyopathydilated cardiomyopathysudden cardiac death
Type
Original Article
Information
Cardiology in the Young , Volume 13 , Issue 4 , August 2003 , pp. 345 - 351
Copyright
© 2003 Cambridge University Press

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