Document Detail


Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
MedLine Citation:
PMID:  20526204     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: Glycogen Storage Disease Type III, glycogen debranching enzyme deficiency, causes accumulation of glycogen in liver, skeletal, and cardiac muscle. Some patients develop increased left ventricular thickness by echocardiography, but the rate of increase and its significance remain unclear.
METHODS: We evaluated 33 patients with Glycogen Storage Disease Type III, 23 with IIIa and 10 with IIIb, ages 1 month to 55.5 years, by echocardiography for wall thickness, left ventricular mass, shortening and ejection fractions, at 1 time point (n = 33) and at 2 time points in patients with more than 1 echocardiogram (13 of the 33).
RESULTS: Of 23 cross-sectional patients with type IIIa, 12 had elevated left ventricular mass, 11 had elevated wall thickness. One type IIIb patient had elevated left ventricular mass but four had elevated wall thickness. For those with multiple observations, 9 of 10 with type IIIa developed increased left ventricular mass over time, with three already increased at first measurement. Shortening and ejection fractions were generally normal.
CONCLUSION: Elevated left ventricular mass and wall thickness is more common in patients with type IIIa but develops rarely in type IIIb, although ventricular systolic function is preserved. This suggests serial echocardiograms with attention to left ventricular thickness and mass are important for care of these patients.
Authors:
Shawyntee M Vertilus; Stephanie L Austin; Kimberly S Foster; Keri E Boyette; Deeksha S Bali; Jennifer S Li; Priya S Kishnani; Stephanie Burns Wechsler
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  12     ISSN:  1530-0366     ISO Abbreviation:  Genet. Med.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-15     Completed Date:  2010-10-21     Revised Date:  2014-11-13    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  413-23     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Cross-Sectional Studies
Echocardiography*
Female
Glycogen Debranching Enzyme System / genetics
Glycogen Storage Disease Type III / genetics,  ultrasonography*
Heart Ventricles / ultrasonography
Humans
Infant
Longitudinal Studies
Male
Middle Aged
Mutation / genetics
Myocardium / pathology*
Ventricular Dysfunction, Left / genetics,  ultrasonography*
Young Adult
Grant Support
ID/Acronym/Agency:
5UL1RR024128-03/RR/NCRR NIH HHS; UL1 RR024128/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Glycogen Debranching Enzyme System; EC 3.2.1.33/amylo-1,6-glucosidase
Comments/Corrections

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