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long QT syndrome 3 (LQT3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 3

MONDO:0011377

Also known as:LQT3SCN5A long QT syndromelong QT syndrome caused by mutation in SCN5A

Overview

An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.

GeneticsAutosomal dominant · SCN5A (chr 3)

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: Nonimmune hydrops fetalis, Prolonged QTc interval, Ventricular flutter, and Hydrops fetalis and others; and common findings: Sudden cardiac death. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Ventricular fibrillation, Ventricular flutter, Sudden cardiac death

Genetic Landscape

SCN5A function has not been fully characterized.

Long QT syndrome 3 is associated with mutations in the SCN5A gene on chromosome 3.

Diagnosis

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

Biomarker and diagnostic research for long QT syndrome 3 has been reported in the published literature.

Prognosis

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

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 long QT syndrome 3.

57 publications have been identified in PubMed for long QT syndrome 3. Research spans Basic Science / Preclinical (30%), Case Report / Case Series (26%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Laboratory research	17	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:603830

GARD

Genetic and Rare Diseases Info Center

GARD:3286

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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Kisho

long QT syndrome 3

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

Latest News & Developments

SGK1-inhibition restores cardiac repolarization in LQT2 rabbits and LQT3 mice by reducing late sodium current.

long QT syndrome 3

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

Latest News & Developments

SGK1-inhibition restores cardiac repolarization in LQT2 rabbits and LQT3 mice by reducing late sodium current.