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Cardiac Pathology in Glycogen Storage Disease Type III

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JIMD Reports - Case and Research Reports, 2012/3

Part of the book series: JIMD Reports ((JIMD,volume 6))

Abstract

Purpose: To investigate the distribution and clinical impact of glycogen accumulation on heart structure and function in individuals with GSD III.

Methods: We examined cardiac tissue and the clinical records of three individuals with GSD IIIa who died or underwent cardiac transplantation. Of the two patients that died, one was from infection and the other was from sudden cardiac death. The third patient required cardiac transplantation for end-stage heart failure with severe hypertrophic cardiomyopathy.

Results: Macro- and microscopic examination revealed cardiac fibrosis (n = 1), moderate to severe vacuolation of cardiac myocytes (n = 3), mild to severe glycogen accumulation in the atrioventricular (AV) node (n = 3), and glycogen accumulation in smooth muscle cells of intramyocardial arteries associated with smooth muscle hyperplasia and profoundly thickened vascular walls (n = 1).

Conclusion: Our findings document diffuse though variable involvement of cardiac structures in GSD III patients. Furthermore, our results also show a potential for serious arrhythmia and symptomatic heart failure in some GSD III patients, and this should be considered when managing this patient population.

Competing interests: None declared

Article Note

This chapter documents diffuse though variable involvement of cardiac structures in GSD III patients and demonstrates the potential for serious arrhythmia and symptomatic heart failure in some GSD III patients.

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Acknowledgments

Supported, in part, by The Association of Glycogen Storage Disease, USA, as well as the National Institutes of Health through the Duke Clinical Research Center. This publication was made possible, in part, by grant number 5UL1RR024128-03 from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH, and NIH Roadmap for Medical Research). Its contents are solely the responsibility of the authors and do not necessarily represent the official view of the NCRR or NIH. Information on NCRR is available at http://www.ncrr.nih.gov/. Information of reengineering the clinical research enterprise can be obtained from http://nihroadmap.nih.gov/clinicalresearch/overview-translational.asp/. We would like to thank the patients with GSD III and their families that contributed to this research. We would also like to thank Ms. Susan Reeves who assisted with the preparation of the figures and Drs. Heather Ross, Stephen Waller, Melissa Jacobs, Ivan Damjanov, and Sam Simmons who assisted in the collection of the tissue.

A portion of the results submitted in this manuscript was presented by Stephanie Austin at the 2010 American Society of Human Genetics Annual Meeting in Washington, DC.

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Correspondence to S. L. Austin .

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Communicated by: Alberto B. Burlina

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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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Austin, S.L., Proia, A.D., Spencer-Manzon, M.J., Butany, J., Wechsler, S.B., Kishnani, P.S. (2012). Cardiac Pathology in Glycogen Storage Disease Type III. In: JIMD Reports - Case and Research Reports, 2012/3. JIMD Reports, vol 6. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_118

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  • DOI: https://doi.org/10.1007/8904_2011_118

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  • Print ISBN: 978-3-642-28128-0

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