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Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.
Features include very common findings: Reduced left ventricular ejection fraction; and common findings: Atrial fibrillation. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 13 | Stroke, Atrial standstill, Atrial fibrillation |
Brain and nerves | 1 | Stroke |
SCN5A function has not been fully characterized.
Dilated cardiomyopathy 1E is caused by mutations in the SCN5A gene on chromosome 3.
Genetic testing for SCN5A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 very common feature, 1 common feature.
No clinical trials have been registered for dilated cardiomyopathy 1E.
12 publications have been identified in PubMed for dilated cardiomyopathy 1E. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 | 50% |
Research summaries | 2 | 17% |
Patient case studies | 2 | 17% |
Disease patterns and progression | 1 | 8% |
New treatment approaches | 1 | 8% |
Martínez-Barrios E (2026). [PMID: 41596527](https://pubmed.ncbi.nlm.nih.gov/41596527/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Gu X (2025). [PMID: 40948718](https://pubmed.ncbi.nlm.nih.gov/40948718/). *Cardiovascular diagnosis and therapy*. [Basic Science / Preclinical]
Yamauchi K (2025). [PMID: 41047353](https://pubmed.ncbi.nlm.nih.gov/41047353/). *Circulation journal : official journal of the Japanese Circulation Society*. [Basic Science / Preclinical]
Tuijnenburg F (2025). [PMID: 40706751](https://pubmed.ncbi.nlm.nih.gov/40706751/). *Indian pacing and electrophysiology journal*. [Basic Science / Preclinical]
Han S (2025). [PMID: 40271130](https://pubmed.ncbi.nlm.nih.gov/40271130/). *Frontiers in cardiovascular medicine*. [Case Report / Case Series]
Zaragoza MV (2024). [PMID: 39273049](https://pubmed.ncbi.nlm.nih.gov/39273049/). *Cells*. [Review / Meta-Analysis]
Zaragoza MV (2024). [PMID: 38915555](https://pubmed.ncbi.nlm.nih.gov/38915555/). *bioRxiv : the preprint server for biology*. [Case Report / Case Series]
Cadena-Ullauri S (2024). [PMID: 39068398](https://pubmed.ncbi.nlm.nih.gov/39068398/). *BMC cardiovascular disorders*. [Review / Meta-Analysis]
Li Q (2024). [PMID: 38725372](https://pubmed.ncbi.nlm.nih.gov/38725372/). *Journal of cachexia, sarcopenia and muscle*. [Gene Therapy / Novel Therapeutics]
Hou X (2024). [PMID: 38479330](https://pubmed.ncbi.nlm.nih.gov/38479330/). *Stem cell research*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center