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September 27, 2025

Glycogen Storage Disease Type III: The Critical Role of Cardiac MRI in Detecting Insidious Progression.

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Authors

SMSiying MaJXJiaqi XuHHHongjie Hu

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Overview

Case report highlights myocardial involvement and AGL mutations in a patient with GSDIII, suggesting cardiac MRI is essential.

Key Points

  • Cardiac MRI revealed significant myocardial changes over two years in a patient with glycogen storage disease type III.
  • The patient exhibited novel heterozygous AGL mutations, expanding known mutation profiles in GSDIII cases.
  • Evaluation of cardiac involvement in GSDIII is critical, despite its rarity and potential severe complications.
  • Understanding cardiac MRI's role may improve long-term management of patients at risk for arrhythmias and cardiomyopathy.

Cite This Study

Ma et al. (2025) studied this question.

synapsesocial.com/papers/68d7cc66eebfec0fc52389e5https://doi.org/10.1148/ryct.250025
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A Case Report of Glycogen Storage Disorder Type IIIa in a Pediatric Patient: Clinical Approach and Molecular Diagnosis2026
  2. 2Characterization of glycogen storage disease type III using glycoNOE MRI2024
  3. 3Avascular necrosis as an uncommon manifestation in glycogen storage disease type III: diagnostic and therapeutic challenges2025
  4. 4Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management2026
  5. 5[A case report of glycogen storage disease type III combined with Guillain-Barré syndrome and literature review].2025