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Resolution of severe cardiomyopathy in infantile Pompe disease

Published online by Cambridge University Press:  21 November 2013

John J. Parent  and
Marcus Schamberger
John J. Parent
Affiliation:
Department of Pediatric Cardiology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America
Marcus Schamberger
Affiliation:
Department of Pediatric Cardiology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America
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Abstract

Infantile Pompe disease is a rare inborn error of metabolism characterized by severe hypertrophic cardiomyopathy and generalised hypotonia occurring in infancy. We present a case of an infant with severe hypertrophic cardiomyopathy that resolved after treatment with enzyme replacement therapy.

Keywords

Pompe Diseasecardiomyopathyenzyme replacement therapyglycogen storage disease 2lysosomal acid maltase deficiencyhypertrophic cardiomyopathy
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 1 , January 2015 , pp. 146 - 148
Copyright
Copyright © Cambridge University Press 2013 

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References

REFERENCES

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