dilated cardiomyopathy 1D
Findings
No curated finding names dilated cardiomyopathy 1D 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 TNNT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011095), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Middle age onset · Juvenile onset · Fetal onset · Young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Increased circulating brain natriuretic peptide concentrationHPOHP:0033534
- 2 of 2 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 7 of 7 reported patients
- Left ventricular noncompactionHPOHP:0030682
- 4 of 4 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 24 of 30 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 16 of 23 reported patients
- Congestive heart failureHPOHP:0001635
- 19 of 32 reported patients
- Sudden cardiac death
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.
- TNNT2HGNC:11949
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1D
- Also called
- cardiomyopathy, dilated, type 1DCMD1Ddilated cardiomyopathy type 1Dfamilial isolated dilated cardiomyopathy caused by mutation in TNNT2TNNT2 familial isolated dilated cardiomyopathy