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ventricular fibrillation, paroxysmal familial, type 1 (VF1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ventricular fibrillation, paroxysmal familial, type 1

MONDO:0011376

Also known as:VF1ventricular fibrillation, familial, 1ventricular fibrillation, paroxysmal familial, 1

Overview

GeneticsSCN5A (chr 3)

Clinical Presentation

Features include: Ventricular fibrillation, Tachycardia, and Syncope.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Ventricular fibrillation, Tachycardia

Explore clinical features

Genetic Landscape

SCN5A function has not been fully characterized.

Ventricular fibrillation, paroxysmal familial, type 1 is associated with mutations in the SCN5A gene on chromosome 3.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SCN5A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ventricular fibrillation, paroxysmal familial, type 1 has been reported in the published literature.

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 ventricular fibrillation, paroxysmal familial, type 1.

139 publications have been identified in PubMed for ventricular fibrillation, paroxysmal familial, type 1. Research spans Basic Science / Preclinical (27%), Epidemiology / Natural History (26%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Laboratory research	38	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:603829

Questions for Your Care Team

→Should I pursue genetic testing for SCN5A, 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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ventricular fibrillation, paroxysmal familial, type 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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