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

Rare Disease

short QT syndrome

MONDO:0000453

Also known as:ventricular arrhythmia associated with short QT syndromefamilial short QT syndrome

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Overview

A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified

Clinical Trials1 registered · 1 recruiting

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: Shortened QT interval; and very common findings: Bradycardia. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Bradycardia, Atrial fibrillation, Sudden cardiac death

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.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Andersen-Tawil syndrome (ATS) should be suspected in individuals with either A or B: A. Presence of two of the following three criteria:

Periodic paralysis
Symptomatic cardiac arrhythmias or electrocardiographic evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for short QT syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Andersen-Tawil syndrome (ATS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with ATS

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

For asymptomatic individuals with a KCNJ2 pathogenic variant, annual screening including a 12-lead EKG and 24-hour Holter monitoring is desirable, followed by referral to a cardiologist if abnormalities are identified.

Source: GeneReviews — "Andersen-Tawil Syndrome"

Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

61 publications have been identified in PubMed for short QT syndrome. Research spans Basic Science / Preclinical (25%), Case Report / Case Series (21%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Laboratory research	15	25%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:51083

GARD

Genetic and Rare Diseases Info Center

GARD:16650

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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

short QT syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Supportive Findings

Differential Diagnosis

Episodes of Flaccid Paralysis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

short QT syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Supportive Findings

Differential Diagnosis

Episodes of Flaccid Paralysis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications