Hostname: page-component-cd9895bd7-gvvz8 Total loading time: 0 Render date: 2024-12-28T05:11:43.528Z Has data issue: false hasContentIssue false
  • English
  • Français

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
Get access Rights & Permissions [Opens in a new window]

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 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

REFERENCES

1. Kishnani, PS, Hwu, WL, Mandel, H, Nicolino, M, Yong, F, Corzo, D. Infantile-Onset Pompe Disease Natural History Study Group, A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148: 671–676.CrossRefGoogle Scholar
2. Amartino, HM, Cavagnari, BM. Enzyme replacement therapy in the infantile form of Pompe disease: Argentinean experience in a seven-year follow up case. Arch Argent Pediatr 2012; 110: 323–327.CrossRefGoogle Scholar
3. Chakrapani, A, Vellodi, A, Robinson, P, Jones, S, Wraith, JE. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis 2010; 33: 747–750.CrossRefGoogle ScholarPubMed
4. Chen, CA, Chien, YH, Hwu, WL, et al. Left ventricular geometry, global function, and dyssynchrony infants and children with Pompe cardiomyopathy undergoing enzyme replacement therapy. J Card Fail 2011; 17: 930–936.CrossRefGoogle ScholarPubMed
5. Chen, LR, Chen, CA, Chiu, SN, et al. Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease. J Pediatr 2009; 155: 271–275; e2.CrossRefGoogle ScholarPubMed
6. Klinge, L, Straub, V, Neudorf, U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005; 15: 24–31.CrossRefGoogle ScholarPubMed
7. Case, LE, Hanna, R, Frush, DP, et al. Fractures in children with Pompe disease: a potential long-term complication. Pediatr Radiol 2007; 37: 437–445.CrossRefGoogle ScholarPubMed
8. McDowell, R, Li, JS, Benjamin, DK Jr, et al. Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease. Genet Med 2008; 10: 758–762.CrossRefGoogle ScholarPubMed