How is Brugada syndrome 4 inherited?

Brugada syndrome 4 follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Brugada syndrome 4 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Brugada syndrome 4?

Information about treatment is currently limited for this condition.

What complications can arise from Brugada syndrome 4?

Brugada syndrome 4 can lead to complications related to heart rhythm changes. These changes may increase the risk of irregular heartbeats, which can be serious. It's important for patients to be monitored by a healthcare provider to manage these risks.

How does Brugada syndrome 4 affect daily life?

Living with Brugada syndrome 4 may require some lifestyle adjustments to manage heart health. Patients might need to avoid certain activities that could trigger irregular heartbeats. Regular check-ups with a doctor are also important to monitor heart function.

What is the prognosis for someone with Brugada syndrome 4?

Currently, information about the prognosis for Brugada syndrome 4 is limited. Since this condition can cause abnormal heart rhythms, ongoing monitoring is essential. Each person's situation may vary, so discussing individual risks with a healthcare provider is important.

Should family members be tested for Brugada syndrome 4?

Since Brugada syndrome 4 is caused by a genetic mutation, family members may consider genetic testing. This can help determine if they are also at risk for the condition. It's best to discuss testing options with a healthcare provider who understands this syndrome.

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Brugada syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Brugada syndrome 4

MONDO:0012743

Also known as:BRGDA4Brugada syndrome caused by mutation in CACNB2Brugada syndrome type 4

Overview

Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.

GeneticsAutosomal dominant · CACNB2 (chr 10)

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, Atrial fibrillation, and Syncope.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Atrial fibrillation

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.

CACNB2 encodes calcium voltage-gated channel auxiliary subunit beta 2 (660 aa). Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current. Highest expression in Esophagus Muscularis (40.3 TPM) and Esophagus Gastroesophageal Junction (35.9 TPM).

Brugada syndrome 4 is associated with mutations in the CACNB2 gene on chromosome 10.

The CACNB2 protein participates in CACNA1D:CACNA2D2:CACNB2 (Cav1.3 channel) transports Ca2+ into the cytosol of an inner hair cell and Sensory processing of sound by inner hair cells of the cochlea pathways.

CACNB2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 3.3.

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

Brugada syndrome is a channelopathy, caused by genetic changes in transmembrane ion channels that create action potentials, in this case leading to an increased risk of cardiac arrhythmia .

Suggestive Findings

Brugada syndrome should be suspected in individuals with any of the following findings:

Recurrent syncope
Ventricular fibrillation

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 Brugada syndrome 4. 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 Brugada syndrome, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Electrocardiogram (EKG)

Prognosis

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

GeneReviews

Surveillance Guidelines

At-risk individuals with a family history of Brugada syndrome or a known pathogenic variant should undergo EKG monitoring every one to two years beginning at birth . The presence of type 1 EKG changes should be further investigated.

Source: GeneReviews — "Brugada Syndrome"

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 Brugada syndrome 4.

111 publications have been identified in PubMed for Brugada syndrome 4. Research spans Epidemiology / Natural History (25%), Review / Meta-Analysis (15%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Disease patterns and progression	28	25%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611876

GARD

Genetic and Rare Diseases Info Center

GARD:10362

Questions for Your Care Team

→Should I pursue genetic testing for CACNB2, 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?

FAQ

Frequently Asked Questions

Common questions about Brugada syndrome 4

Brugada syndrome 4 is a rare heart condition where a mutation in the CACNB2 gene causes abnormal heart rhythms. This disorder is one of several types of Brugada syndrome, a group of conditions known to affect the heart’s electrical signals. People with this condition may face issues related to heart rhythm changes that can increase the risk of irregular heartbeats. More research is needed to fully understand all aspects of this condition, and some details may not be completely known at this time.

Information about symptoms is currently limited for this condition.

Brugada syndrome 4 is caused by a mutation in the CACNB2 gene. This gene plays a role in the normal function of the heart's electrical system, and when it is altered, it can lead to abnormal heart rhythms. Associated genes include CACNB2.

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Kisho

Brugada syndrome 4

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

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Brugada syndrome 4

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

FAQ

Frequently Asked Questions

What is Brugada syndrome 4?

What are the symptoms of Brugada syndrome 4?

What causes Brugada syndrome 4?

How is Brugada syndrome 4 inherited?

How is Brugada syndrome 4 diagnosed?

Are there treatments for Brugada syndrome 4?

What complications can arise from Brugada syndrome 4?

How does Brugada syndrome 4 affect daily life?

What is the prognosis for someone with Brugada syndrome 4?

Should family members be tested for Brugada syndrome 4?

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications