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familial long QT syndrome (LQTS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial long QT syndrome

MONDO:0019171

Also known as:LQTSLong QT SyndromeRomano-Ward long QT syndrome

Find Clinical TrialsTrials

Overview

A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.

OnsetCONGENITAL

TreatmentsNo approved treatments · 3 in pipeline

Clinical Trials14 registered · 8 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: Prolonged QTc interval; and common findings: Syncope, Sinus bradycardia, and Abnormal T-wave. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Sinus bradycardia, Sudden cardiac death, Ventricular arrhythmia

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 familial long QT syndrome. An additional 3 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for familial long QT syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for familial long QT syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

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, 3 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.

14 clinical trials registered, 8 recruiting. Interventions under study include other interventions, medical devices, drug therapy, and gene therapy. Pipeline includes 1 PHASE2, 3 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05348564](https://clinicaltrials.gov/study/NCT05348564)

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 10:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:101016 Orphanet:768

GARD

Genetic and Rare Diseases Info Center

GARD:16547

Questions for Your Care Team

→Are any of the 14 active clinical trials a good fit for my situation?
→With 3 compounds in the orphan drug pipeline, which are furthest along in development and which clinical trials should I be aware of?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

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

Organ System	Evaluation	Comment
Cardiovascular	Baseline assessment	Performed by cardiologist familiar w/LQT management 12-lead EKG 24-hour Holter monitor Serum potassium concentrations
Neurologic	Baseline assessment	Performed by neurologist familiar w/periodic paralysis Electrophysiologic studies incl long exercise protocol
Dental	Baseline assessment for dental abnormalities assoc w/ATS	Follow up as needed
Musculoskeletal	Baseline assessment to establish care w/orthopedist / spine surgeon if scoliosis identified	Follow up as needed Miscellaneous/
Other	Serum TSH concentration	Verification that serum TSH concentration is w/in normal limits Consultation w/clinical geneticist /or genetic counselor

Source: GeneReviews — "Andersen-Tawil Syndrome"

Research Type	Count	% of Total
Laboratory research	47	24%
Research summaries	45	23%
Disease patterns and progression	31	16%
Patient case studies	21	11%
Clinical study results	19	10%
New treatment approaches	14	7%
Testing and diagnosis research	13	7%
Other research	6	3%

Kisho

familial long QT syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

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

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

familial long QT syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

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

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications