Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center

Abstract

Glycogen storage disease (GSD) is a hereditary metabolic disorder caused by enzyme deficiency resulting in glycogen accumulation in the liver, muscle, heart, or kidney. GSD types II, III, IV, and IX are associated with cardiac involvement. However, cardiac manifestation in other GSD types is unclear. This study aimed to describe whether energy deprivation and the toxic effects of accumulated glycogen affect the heart of patients with GSD. We evaluated the left ventricle (LV) wall mass, LV systolic and diastolic function and myocardial strain with conventional echocardiography and two-dimensional speckle-tracking echocardiography (2D STE) in 62 patients with GSD type I, III, VI and IX who visited the Wonju Severance Hospital in 2021. Among the GSD patients, the echocardiographic parameters of 55 pediatrics were converted into z-scores and analyzed. Of the patients, 43 (62.3%), 7 (11.3%) and 12 (19.4%) patients were diagnosed with GSD type I, type III, and type IX, respectively. The median age was 9 years (range, 1-36 years), with 55 children under 18 years old and seven adults over 18 years. For the 55 pediatric patients, the echocardiographic parameters were converted into a z-score and analyzed. Multiple linear regression analysis showed that the BMI z-score (p = 0.022) and CK (p = 0.020) predicted increased LV mass z-score, regardless of GSD type. There was no difference in the diastolic and systolic functions according to myocardial thickness; however, 2D STE showed a negative correlation with the LV mass (r = -0.28, p = 0.041). Given that patients with GSD tend to be overweight, serial evaluation with echocardiography might be required for all types of GSD.

Keywords: cardiac function; global longitudinal strain; glycogen storage disease; left ventricle mass; left ventricle thickness.

Figure 1

Tissue Doppler imaging for the evaluation of the left ventricle (LV) diastolic function.

Figure 2

Correlation between global longitudinal strain (GLS) z-score and left ventricle mass z-score.

Figure 3

Left ventricular GLS assessment with two-dimensional speckle tracking echocardiography. The figure demonstrates analysis of left ventricular GLS from the three-chamber (a), four-chamber (4CH) (b) and two-chamber (2CH) (c) views. (d) Polar map with the regional values and the GLS value calculated from the 17 segments which is within the normal value.