Skip to main content

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

Publication ,  Journal Article
Vertilus, SM; Austin, SL; Foster, KS; Boyette, KE; Bali, DS; Li, JS; Kishnani, PS; Wechsler, SB
Published in: Genet Med
July 2010

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.

Duke Scholars

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

July 2010

Volume

12

Issue

7

Start / End Page

413 / 423

Location

United States

Related Subject Headings

  • Young Adult
  • Ventricular Dysfunction, Left
  • Myocardium
  • Mutation
  • Middle Aged
  • Male
  • Longitudinal Studies
  • Infant
  • Humans
  • Heart Ventricles
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Vertilus, S. M., Austin, S. L., Foster, K. S., Boyette, K. E., Bali, D. S., Li, J. S., … Wechsler, S. B. (2010). Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. Genet Med, 12(7), 413–423. https://doi.org/10.1097/GIM.0b013e3181e0e979
Vertilus, Shawyntee M., Stephanie L. Austin, Kimberly S. Foster, Keri E. Boyette, Deeksha S. Bali, Jennifer S. Li, Priya S. Kishnani, and Stephanie Burns Wechsler. “Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.Genet Med 12, no. 7 (July 2010): 413–23. https://doi.org/10.1097/GIM.0b013e3181e0e979.
Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, et al. Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. Genet Med. 2010 Jul;12(7):413–23.
Vertilus, Shawyntee M., et al. “Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.Genet Med, vol. 12, no. 7, July 2010, pp. 413–23. Pubmed, doi:10.1097/GIM.0b013e3181e0e979.
Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, Kishnani PS, Wechsler SB. Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. Genet Med. 2010 Jul;12(7):413–423.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

July 2010

Volume

12

Issue

7

Start / End Page

413 / 423

Location

United States

Related Subject Headings

  • Young Adult
  • Ventricular Dysfunction, Left
  • Myocardium
  • Mutation
  • Middle Aged
  • Male
  • Longitudinal Studies
  • Infant
  • Humans
  • Heart Ventricles