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Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.
Features include always present findings: Increased myocardial glycogen content; and very common findings: Congestive heart failure. 34 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 8 | Increased myocardial glycogen content, Ventricular fibrillation, Bradycardia |
Lungs and breathing | 4 | Pleural effusion, Respiratory distress, Pulmonary edema |
Brain and nerves | 3 | Seizure, ST segment depression, Hydrocephalus |
Digestive system | 2 | Ascites, Feeding difficulties |
Muscles | 1 | Myopathy |
Eyes | 1 | Cataract |
Pregnancy and birth | 1 | Neonatal hypoglycemia |
Kidneys and urinary system | 1 | Enlarged kidney |
PRKAG2 function has not been fully characterized.
Lethal congenital glycogen storage disease of heart is associated with mutations in the PRKAG2 gene on chromosome 7.
Genetic testing for PRKAG2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 9 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for lethal congenital glycogen storage disease of heart.
7 publications have been identified in PubMed for lethal congenital glycogen storage disease of heart. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).
Ribeiro GNP (2026). [PMID: 42154863](https://pubmed.ncbi.nlm.nih.gov/42154863/). *Arq Bras Cardiol*. [Review / Meta-Analysis]
Cabido V (2026). [PMID: 42100166](https://pubmed.ncbi.nlm.nih.gov/42100166/). *JHLT Open*. [Case Report / Case Series]
Jang JH (2025). [PMID: 40671717](https://pubmed.ncbi.nlm.nih.gov/40671717/). *European heart journal. Case reports*. [Case Report / Case Series]
White-Brown AM (2025). [PMID: 39215506](https://pubmed.ncbi.nlm.nih.gov/39215506/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Wang P (2025). [PMID: 40771711](https://pubmed.ncbi.nlm.nih.gov/40771711/). *Arrhythmia & electrophysiology review*. [Review / Meta-Analysis]
Chakrabarti S (2025). [PMID: 40516147](https://pubmed.ncbi.nlm.nih.gov/40516147/). *Stem cell research*. [Basic Science / Preclinical]
van der Steld LP (2024). [PMID: 39082507](https://pubmed.ncbi.nlm.nih.gov/39082507/). *Einstein (Sao Paulo, Brazil)*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:47 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning lethal congenital glycogen storage disease of heart
Updated Aug 12, 2026
A recent study highlights the lethal combination of p.V142I variant transthyretin amyloid cardiomyopathy and complex congenital heart disease. This research underscores the need for further investigation into the implications of this genetic variant in affected patients.