ArticleJIMD reports2012
Cardiac Pathology in Glycogen Storage Disease Type III.
Article in JIMD reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.Journal of inherited metabolic disease · 2026Article
- Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management.Heart failure reviews · 2026Review
- Hypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency.Journal of lipid and atherosclerosis · 2026Article
- Cardiovascular involvement in glycogen storage diseases.Nature reviews. Cardiology · 2026Review
- Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits.Experimental physiology · 2026Article
- Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.EMBO molecular medicine · 2025Review
- Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.Scientific reports · 2025Article
- The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant.JIMD reports · 2025Article
- Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience.Molecular genetics and metabolism reports · 2025Article
- Definitional Challenges in Understanding Hypertrophic Cardiomyopathy.Diagnostics (Basel, Switzerland) · 2024Review
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center.International journal of environmental research and public health · 2023Article
- Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa.Molecular genetics and metabolism reports · 2022Article
- The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.BMC pediatrics · 2022Article
- Multi-Omics Approach Profiling Metabolic Remodeling in Early Systolic Dysfunction and in Overt Systolic Heart Failure.International journal of molecular sciences · 2021Article
- A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.Molecular genetics and metabolism reports · 2021Article
- Histopathological substrate of the atrial myocardium in the progression of obstructive sleep apnoea-related atrial fibrillation.Sleep & breathing = Schlaf & Atmung · 2021Article
- Biomarkers in Glycogen Storage Diseases: An Update.International journal of molecular sciences · 2021Review
- Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeTo investigate the distribution and clinical impact of glycogen accumulation on heart structure and function in individuals with GSD III.
methodsWe examined cardiac tissue and the clinical records of three individuals with GSD IIIa who died or underwent cardiac transplantation. Of the two patients that died, one was from infection and the other was from sudden cardiac death. The third patient required cardiac transplantation for end-stage heart failure with severe hypertrophic cardiomyopathy.
resultsMacro- and microscopic examination revealed cardiac fibrosis (n = 1), moderate to severe vacuolation of cardiac myocytes (n = 3), mild to severe glycogen accumulation in the atrioventricular (AV) node (n = 3), and glycogen accumulation in smooth muscle cells of intramyocardial arteries associated with smooth muscle hyperplasia and profoundly thickened vascular walls (n = 1).
conclusionOur findings document diffuse though variable involvement of cardiac structures in GSD III patients. Furthermore, our results also show a potential for serious arrhythmia and symptomatic heart failure in some GSD III patients, and this should be considered when managing this patient population.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.