Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Danon Disease — Research Summary
Printed from RareWays (rareways.org) on 26 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Phenotypic Transition From Danon Disease to Arrhythmogenic Cardiomyopathy: Multimodality and Histopathologic Evidence.
Quintella Sangiorgi Olivetti Natália et al. — JACC. Case reports (23 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42776111/
- 2.
Cardiac characteristics of Chinese patients with Danon disease associated with
Yin Kunlun et al. — International journal of cardiology. Heart & vasculature (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42382315/
- 3.
Enhanced glucose uptake in cardiac and skeletal muscles in Danon disease results from the impaired chaperone-mediated autophagy
Wei Lai et al. — Cell & Bioscience (26 July 2026)
https://doi.org/10.1186/s13578-026-01625-9
- 4.
Danon disease: a rare etiology of left ventricular hypertrophy.
Liang Shichu et al. — Internal and emergency medicine (23 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42493727/
- 5.
Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.
Lee Chung-Lin et al. — International journal of molecular sciences (19 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42511762/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Danon Disease
Danon disease is a rare inherited condition caused by changes in the LAMP2 gene, which stop cells clearing waste properly. It mainly affects the heart muscle, and can also cause skeletal muscle weakness and learning difficulties, with males usually affected earlier and more severely than females. Care focuses on close heart monitoring, medicines for heart failure and rhythm problems, and consideration of a transplant when needed.
Most Recent Research
BACKGROUND: Pathogenic variants in lysosome-associated membrane protein 2 (LAMP2) gene cause X-linked Danon disease, associated with hypertrophic cardiomyopathy. Arrhythmogenic cardiomyopathy is characterized by myocardial fibrofatty replacement and ventricular arrhythmias. CASE SUMMARY: A 30-year-old woman presented with a hypertrophic phenotype and a short PR interval. At 40 years of age, she developed progressive diffuse low QRS complex voltages and recurrent ventricular arrhythmias. Cardiac magnetic resonance showed extensive ring-like late gadolinium enhancement and biventricular systolic dysfunction, consistent with biventricular arrhythmogenic cardiomyopathy. Genetic testing identified a pathogenic LAMP2 variant (LAMP2:c.928G>A; p.Val310Ile) associated with Danon disease. Despite optimized medical therapy, she progressed to advanced heart failure requiring heart transplantation. The explanted heart demonstrated severe fibrofatty myocardial replacement, with thinning of the right ventricular wall and vacuolated cardiomyocyte, which were strongly stained by periodic acid-Schiff. DISCUSSION: Danon disease is characterized by myocardial hypertrophy, but not by fibrofatty replacement, which is a hallmark of arrhythmogenic cardiomyopathy. This case demonstrates a rare phenotypic evolution in LAMP2 cardiomyopathy.
Common Questions
What is Danon Disease?
Danon disease is a rare inherited condition caused by changes in the LAMP2 gene, which stop cells clearing waste properly. It mainly affects the heart muscle, and can also cause skeletal muscle weakness and learning difficulties, with males usually affected earlier and more severely than females. Care focuses on close heart monitoring, medicines for heart failure and rhythm problems, and consideration of a transplant when needed.
How many clinical trials are available for Danon Disease?
RareWays currently indexes 1 clinical trial for Danon Disease, of which 1 is actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Danon Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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