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short QT syndrome 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short QT syndrome 7

MONDO:0859368

Overview

GeneticsAutosomal dominant · SLC4A3 (chr 2)

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: Shortened QT interval, Ventricular fibrillation, Cardiac arrest, and Syncope and 1 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Ventricular fibrillation, Cardiac arrest, Sudden cardiac death

Explore clinical features

Genetic Landscape

SLC4A3 function has not been fully characterized.

Short QT syndrome 7 is associated with mutations in the SLC4A3 gene on chromosome 2.

Diagnosis

Genetic testing for SLC4A3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short QT syndrome 7 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 short QT syndrome 7.

14 publications have been identified in PubMed for short QT syndrome 7. Research spans Epidemiology / Natural History (43%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Disease patterns and progression	6	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620231

Questions for Your Care Team

→Should I pursue genetic testing for SLC4A3, 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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short QT syndrome 7

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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