hypertrophic cardiomyopathy 2
Findings
No curated finding names hypertrophic cardiomyopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007266), read 2026-09-29. CC BY 4.0.
- Onset and course
- Middle age onset · Young adult 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.
- Hypertrophic cardiomyopathyHPOHP:0001639
- 4 of 4 reported patients
- Ventricular septal hypertrophyHPOHP:0005144
- 4 of 6 reported patients
- Angina pectorisHPOHP:0001681
- 3 of 7 reported patients
- DyspneaHPOHP:0002094
- 2 of 7 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 6 reported patients
- Complete right bundle branch blockHPOHP:0011712
- 1 of 6 reported patients
- Reduced left ventricular ejection fractionHPO
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 · 2018
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: hypertrophic cardiomyopathy 2
- Also called
- cardiomyopathy, familial hypertrophic, type 2cardiomyopathy, hypertrophic, 2CMH2familial hypertrophic cardiomyopathy type 2hypertrophic cardiomyopathy caused by mutation in TNNT2hypertrophic cardiomyopathy type 2TNNT2 hypertrophic cardiomyopathy