dilated cardiomyopathy 1G
Findings
No curated finding names dilated cardiomyopathy 1G 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 TTN gene.
Definition from the Mondo Disease Ontology (MONDO:0011400), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
7 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.
- Atrial fibrillationHPOHP:0005110
- Atrioventricular blockHPOHP:0001678
- Congestive heart failureHPOHP:0001635
- Dilated cardiomyopathyHPOHP:0001644
- Premature atrial contractionsHPOHP:0006699
- Reduced left ventricular ejection fractionHPOHP:0012664
- Ventricular tachycardiaHPOHP:0004756
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.
- TTNHGNC:12403
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1G
- Also called
- cardiomyopathy, dilated, type 1GCMD1Gdilated cardiomyopathy type 1Gfamilial isolated dilated cardiomyopathy caused by mutation in TTNTTN familial isolated dilated cardiomyopathy