Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time

Shawyntee M. Vertilus, Stephanie L. Austin, Kimberly S. Foster, Keri E. Boyette, Deeksha S. Bali, Jennifer S. Li, Priya S. Kishnani, Stephanie Burns Wechsler

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)413-423
Number of pages11
JournalGenetics in Medicine
Volume12
Issue number7
DOIs
Publication statusPublished - Jul 2010

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Keywords

  • Glycogen Storage Disease Type III
  • left ventricular hypertrophy
  • left ventricular mass
  • ventricular function

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)

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