Cardiac pathology in glycogen storage disease Type III

S. L. Austin; Alan Proia; M. J. Spencer-Manzon; J. Butany; S. B. Wechsler; P. S. Kishani

doi:10.1007/8904_2011_118

Cardiac pathology in glycogen storage disease Type III

S. L. Austin, Alan Proia, M. J. Spencer-Manzon, J. Butany, S. B. Wechsler, P. S. Kishani

Campbell University

Research output: Contribution to journal › Article › peer-review

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.

Original language	American English
Journal	JIMD Reports
Volume	6
DOIs	https://doi.org/10.1007/8904_2011_118
State	Published - Jan 31 2012

Disciplines

Osteopathic Medicine and Osteopathy
Pathology

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10.1007/8904_2011_118License: Unspecified

https://link.springer.com/chapter/10.1007/8904_2011_118

Cite this

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title = "Cardiac pathology in glycogen storage disease Type III",

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.",

author = "Austin, {S. L.} and Alan Proia and Spencer-Manzon, {M. J.} and J. Butany and Wechsler, {S. B.} and Kishani, {P. S.}",

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doi = "10.1007/8904_2011_118",

language = "American English",

volume = "6",

journal = "JIMD Reports",

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TY - JOUR

T1 - Cardiac pathology in glycogen storage disease Type III

AU - Austin, S. L.

AU - Proia, Alan

AU - Spencer-Manzon, M. J.

AU - Butany, J.

AU - Wechsler, S. B.

AU - Kishani, P. S.

PY - 2012/1/31

Y1 - 2012/1/31

N2 - 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.

AB - 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.

UR - https://cufind.campbell.edu/medicine_school/437

UR - https://link.springer.com/chapter/10.1007/8904_2011_118

U2 - 10.1007/8904_2011_118

DO - 10.1007/8904_2011_118

M3 - Article

VL - 6

JO - JIMD Reports

JF - JIMD Reports

ER -

Cardiac pathology in glycogen storage disease Type III

Abstract

Disciplines

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