cardiomyopathy, familial restrictive, 3
Findings
No curated finding names cardiomyopathy, familial restrictive, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012900), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Abnormal ST segmentHPOHP:0012249
- 1 of 1 reported patient
- Aortic aneurysmHPOHP:0004942
- 1 of 1 reported patient
- HypotensionHPOHP:0002615
- 1 of 1 reported patient
- Left axis deviationHPOHP:0033568
- 1 of 1 reported patient
- Myocardial sarcomeric disarrayHPOHP:0031333
- 1 of 1 reported patient
- Reduced left ventricular ejection fractionHPOHP:0012664
- 1 of 1 reported patient
- Restrictive cardiomyopathyHPOHP:0001723
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
3 names
Resolves to: cardiomyopathy, familial restrictive, 3
- Also called
- cardiomyopathy, familial restrictive, type 3familial isolated restrictive cardiomyopathy caused by mutation in TNNT2TNNT2 familial isolated restrictive cardiomyopathy