left ventricular noncompaction 10
Findings
No curated finding names left ventricular noncompaction 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014163), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Left ventricular noncompactionHPOHP:0030682
- 6 of 6 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 6 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 1 of 6 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 6 reported patients
- SyncopeHPOHP:0001279
- 1 of 6 reported patients
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.
- MYBPC3HGNC:7551
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
3 names
Resolves to: left ventricular noncompaction 10
- Also called
- left ventricular noncompaction caused by mutation in MYBPC3left ventricular noncompaction type 10MYBPC3 left ventricular noncompaction