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


CONCLUSIONS
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.
Vertilus
Shawyntee M
SM
Divisions of Pediatric Cardiology,Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Austin
Stephanie L
SL
Foster
Kimberly S
KS
Boyette
Keri E
KE
Bali
Deeksha S
DS
Li
Jennifer S
JS
Kishnani
Priya S
PS
Wechsler
Stephanie Burns
SB
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004452:Echocardiography; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000235:genetics; D006010:Glycogen Storage Disease Type III / Q000000981:diagnostic imaging* / Q000235:genetics; D006352:Heart Ventricles / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009206:Myocardium / Q000473:pathology*; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging* / Q000235:genetics; D055815:Young Adult
D006004:Glycogen Debranching Enzyme System; C030563:amylo-1,6-glucosidase