dilated cardiomyopathy 1E
Findings
No curated finding names dilated cardiomyopathy 1E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.
Definition from the Mondo Disease Ontology (MONDO:0011003), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced left ventricular ejection fractionHPOHP:0012664
- 20 of 21 reported patients
- Atrial fibrillationHPOHP:0005110
- 10 of 21 reported patients
- StrokeHPOHP:0001297
- 6 of 21 reported patients
- Complete right bundle branch blockHPOHP:0011712
- 2 of 21 reported patients
- Left bundle branch blockHPOHP:0011713
- 1 of 21 reported patients
- Premature ventricular contractionHPOHP:0006682
- 1 of 21 reported patients
- Supraventricular tachycardiaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN5AHGNC:10593
- Definitive · Ambry Genetics · Autosomal dominant · 2021
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
10 names
Resolves to: dilated cardiomyopathy 1E
- Also called
- cardiomyopathy dilated with conduction defect type 2cardiomyopathy, dilated, 1Ecardiomyopathy, dilated, type 1Ecardiomyopathy, dilated, with conduction defect 2cardiomyopathy, dilated, with conduction disorder and arrhythmiaCDCD2CMD1Edilated cardiomyopathy type 1Efamilial isolated dilated cardiomyopathy caused by mutation in SCN5ASCN5A familial isolated dilated cardiomyopathy