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long QT syndrome 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 14

MONDO:0014548

Also known as:CALM1 long QT syndromeLQT14long QT syndrome caused by mutation in CALM1

Overview

Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.

GeneticsAutosomal dominant · CALM1 (chr 14)

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: Ventricular fibrillation, Cardiac arrest, Prolonged QTc interval, and Polymorphic ventricular tachycardia and others; and common findings: 2:1 atrioventricular block. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Ventricular fibrillation, Cardiac arrest, 2:1 atrioventricular block

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CALM1 encodes calmodulin 1 (149 aa). Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Highest expression in Brain Cerebellar Hemisphere (1,259 TPM) and Brain Frontal Cortex BA9 (1,139 TPM).

Long QT syndrome 14 is associated with mutations in the CALM1 gene on chromosome 14.

The CALM1 protein participates in IQGAPs bind CALM1 and KAMKMT transfers 3xCH3 groups from 3xAdoMet to CALM1 pathways.

CALM1 is classified as a druggable target (Druggable Genome, Enzyme, Ion Channel, and Kinase categories) with score 2.9.

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

Catecholaminergic polymorphic ventricular tachycardia (CPVT) should be suspected in individuals who have one or more of the following :

Source: GeneReviews — "Catecholaminergic Polymorphic Ventricular Tachycardia"

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 long QT syndrome 14. 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 catecholaminergic polymorphic ventricular tachycardia (CPVT), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Catecholaminergic Polymorphic Ventricular Tachycardia

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with Catecholaminergic Polymorphic Ventricular Tachycardia

System/Concern | Evaluation | Frequency

Monitoring

therapy

efficacy | Cardiologist eval to incl:

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 14.

40 publications have been identified in PubMed for long QT syndrome 14. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (25%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Laboratory research	13	33%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616247

GARD

Genetic and Rare Diseases Info Center

GARD:16073

Questions for Your Care Team

→Should I pursue genetic testing for CALM1, 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?

← Back to All Diseases

Kisho

long QT syndrome 14

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Cardiac

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Differential effects of non-selective and cardio-selective beta-blocker therapy on ECG parameters in long QT syndrome type 1.

long QT syndrome 14

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Cardiac

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Differential effects of non-selective and cardio-selective beta-blocker therapy on ECG parameters in long QT syndrome type 1.