| Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. | |
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MedLine Citation:
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PMID: 20526204 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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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:
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Created Date: 2010-07-15 Completed Date: 2010-10-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 413-23 Citation Subset: IM |
Affiliation:
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Divisions of Pediatric Cardiology,Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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5UL1RR024128-03/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Glycogen Debranching Enzyme System; EC 3.2.1.33/amylo-1,6-glucosidase |
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