left ventricular noncompaction 8
Findings
No curated finding names left ventricular noncompaction 8 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 PRDM16 gene.
Definition from the Mondo Disease Ontology (MONDO:0014152), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile 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.
- Left ventricular noncompactionHPOHP:0030682
- 3 of 3 reported patients
- Left ventricular systolic dysfunctionHPOHP:0025169
- 2 of 3 reported patients
- ArrhythmiaHPOHP:0011675
- 1 of 3 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 3 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 3 reported patients
- Left ventricular diastolic dysfunctionHPOHP:0025168
- 1 of 3 reported patients
- Mitral regurgitationHPO
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.
- PRDM16HGNC:14000
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Moderate · Illumina · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
3 names
Resolves to: left ventricular noncompaction 8
- Also called
- familial isolated dilated cardiomyopathy caused by mutation in PRDM16left ventricular noncompaction type 8PRDM16 familial isolated dilated cardiomyopathy