Cardiac involvement in children with Glycogen storage diseases | ||
| Fayoum University Medical Journal | ||
| Volume 15, Issue 3, September 2025, Pages 228-237 PDF (707.91 K) | ||
| Document Type: Review Articles | ||
| DOI: 10.21608/fumj.2025.367932.1476 | ||
| Authors | ||
| doaa badawi abd elghafar* 1; Manal A Ismail2; sara ibrahim Abo Elnour3 | ||
| 1pediatrics, faculty of medicine, fayoum university | ||
| 2pediatric ,faculty of medicine fayoum university | ||
| 3pediatrics department, faculty of medicine, fayoum university | ||
| Abstract | ||
| Introduction: The heart is a highly active metabolic organ and can be negatively impacted by inherited metabolic disorders. Glycogen storage diseases (GSDs) encompass a group of genetic conditions resulting from defects in enzymes and transporters responsible for glycogen metabolism. Glycogen primarily accumulates in the liver, muscles, and kidneys. Aim of the study: This study aimed to evaluate cardiac involvement in infants and children diagnosed (GSD). Subjects and Methods: This cross sectional study was performed at the Children's Hospital of Fayoum University between October 2021 and May 2023. A total of 27 children diagnosed with GSD participated in the study. Each child underwent an ECG, conventional echocardiography, and tissue Doppler imaging. Results: Among the 27 GSD patients, 11 (33.33%) exhibited a prolonged QT interval. Pulmonary hypertension was observed in 4 patients (14.8%), while congenital heart disease was present in 3 cases (11.1%). Left ventricular hypertrophy (LVH) was detected in 51.8% of the patients, with one case involving HOCM. Impaired left ventricular (LV) diastolic function was found in 15 children (55.5%), whereas all patients (100%) exhibited impaired right ventricular (RV) diastolic function. Conclusion: Children with GSD are at risk of developing cardiac abnormalities, including prolonged QT intervals, LVH, pulmonary hypertension, and impaired diastolic function of both the left and right ventricles. | ||
| Keywords | ||
| Glycogen storage disease; Echocardiography; Cardiac | ||
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