dilated cardiomyopathy 1V
Findings
No curated finding names dilated cardiomyopathy 1V 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 PSEN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013373), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
10 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.
- Dilated cardiomyopathyHPOHP:0001644
- 5 of 16 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 5 of 18 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 5 of 18 reported patients
- Congestive heart failureHPOHP:0001635
- 3 of 18 reported patients
- First degree atrioventricular blockHPOHP:0011705
- 2 of 18 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 2 of 18 reported patients
- Atrial fibrillation
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.
- PSEN2HGNC:9509
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1V
- Also called
- cardiomyopathy, dilated, type 1VCMD1Vdilated cardiomyopathy type 1Vfamilial isolated dilated cardiomyopathy caused by mutation in PSEN2PSEN2 familial isolated dilated cardiomyopathy