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left ventricular noncompaction 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

left ventricular noncompaction 8

MONDO:0014152

Also known as:PRDM16 familial isolated dilated cardiomyopathyfamilial isolated dilated cardiomyopathy caused by mutation in PRDM16left ventricular noncompaction type 8

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.

GeneticsAutosomal dominant · PRDM16 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Left ventricular noncompaction; and common findings: Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Congestive heart failure, and Arrhythmia and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7	Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Left ventricular noncompaction

Genetic Landscape

PRDM16 function has not been fully characterized.

Left ventricular noncompaction 8 is associated with mutations in the PRDM16 gene on chromosome 1.

Diagnosis

Genetic testing for PRDM16 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for left ventricular noncompaction 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 6 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for left ventricular noncompaction 8.

35 publications have been identified in PubMed for left ventricular noncompaction 8. Research spans Case Report / Case Series (26%), Diagnostic / Biomarker (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	9	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615373

GARD

Genetic and Rare Diseases Info Center

GARD:15952

Questions for Your Care Team

→Should I pursue genetic testing for PRDM16, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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left ventricular noncompaction 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

left ventricular noncompaction 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications