hypertrophic cardiomyopathy 14
Findings
No curated finding names hypertrophic cardiomyopathy 14 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 MYH6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013197), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Young adult onset · Death in middle age
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.
- Complete right bundle branch blockHPOHP:0011712
- 1 of 1 reported patient
- Congestive heart failureHPOHP:0001635
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 2 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 1 reported patient
- Left ventricular outflow tract obstructionHPOHP:0032092
- 1 of 1 reported patient
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- 1 of 1 reported patient
- Ventricular tachycardia
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.
- MYH6HGNC:7576
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 14
- Also called
- cardiomyopathy, familial hypertrophic, type 14cardiomyopathy, hypertrophic, 14CMH14hypertrophic cardiomyopathy caused by mutation in MYH6hypertrophic cardiomyopathy type 14MYH6 hypertrophic cardiomyopathy