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

Abstract

Abstract Purpose 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 of 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. Methods We evaluated LV wall mass, LV systolic and diastolic function and myocardial strain in 64 patients with GSD type I, III, VI and IX who visited Wonju Severance Hospital in 2021, by conventional echocardiography and two-dimensional speckle-tracking echocardiography (2D STE). Among the GSD patients, the echocardiographic parameters of 55 pediatrics were converted into z-scores and analyzed. Results Of the patients, 43(62.3%), 7(11.3%) and 12(19.4%) were diagnosed with GSD type 1, type 3 and type 9, respectively. The median age was 9 years (range, 1–36years), 55 children under 18 years old and 7 adults over 18 years old. Multiple linear regression analysis showed that 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, but 2D STE shows a negative correlation with LV mass (r=-0.28, p = 0.041). Conclusion Given that GSD patients tend to be overweight. As well as laboratory tests and abdomen ultrasounds of the liver and muscles in patients with GSD are needed, but it is also thought that serial heart evaluation with echocardiography is required.