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cardiac arrhythmia, ankyrin-B-related - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiac arrhythmia, ankyrin-B-related

MONDO:0010958

Also known as:ankyrin-B syndromeLQT4

Overview

GeneticsAutosomal dominant · ANK2 (chr 4)

ResearchLimited published research (4 articles)

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 sometimes findings: Prolonged QT interval, Syncope, and Sudden cardiac death; and rarely findings: Sinus bradycardia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Atrial fibrillation, Sudden cardiac death, Sinus bradycardia

Explore clinical features

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.

ANK2 encodes ankyrin 2 (3,957 aa). Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. Highest expression in Brain Cerebellum (96.7 TPM) and Brain Cerebellar Hemisphere (95.2 TPM).

Cardiac arrhythmia, ankyrin-B-related is associated with mutations in the ANK2 gene on chromosome 4.

ANK2 is classified as a druggable target (Ion Channel and Transporter categories) with score 1.4.

Diagnosis

Genetic testing for ANK2 is available. Testing is considered confirmatory for diagnosis.

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 cardiac arrhythmia, ankyrin-B-related.

4 publications have been identified in PubMed for cardiac arrhythmia, ankyrin-B-related. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Clinical Trial Publication (25%).

Recent Publications

Maroofian R (2025). [PMID: 40879451](https://pubmed.ncbi.nlm.nih.gov/40879451/). *Movement disorders : official journal of the Movement Disorder Society*. [Clinical Trial Publication]
Guo L (2025). [PMID: 39867173](https://pubmed.ncbi.nlm.nih.gov/39867173/). *Reviews in cardiovascular medicine*. [Review / Meta-Analysis]
Lin PH (2025). [PMID: 39962910](https://pubmed.ncbi.nlm.nih.gov/39962910/). *Epilepsia open*. [Case Report / Case Series]
Malhotra N (2025). [PMID: 40866040](https://pubmed.ncbi.nlm.nih.gov/40866040/). *JACC. Basic to translational science*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Nov 4, 2026, 5:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600919

GARD

Genetic and Rare Diseases Info Center

GARD:10432

Questions for Your Care Team

→Should I pursue genetic testing for ANK2, 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

cardiac arrhythmia, ankyrin-B-related

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Palpitations in children and adolescents in the emergency department: a state-of-the-art narrative review of arrhythmia risk, diagnostic strategy, and disposition.

Polymicrogyria and Cardiac Arrhythmia in a Neonate With Biallelic Stop-Gain Variant in TMEM161B: Expanding the Phenotype.

Bicuspid Aortic Valve with Giant Non-Coronary Sinus Aneurysm Compressing the Sinoatrial Node Causing Arrhythmia and Coarctation of the Aorta: A Case on Clinical Decision-Making and Surgical Challenges.

cardiac arrhythmia, ankyrin-B-related

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Palpitations in children and adolescents in the emergency department: a state-of-the-art narrative review of arrhythmia risk, diagnostic strategy, and disposition.

Polymicrogyria and Cardiac Arrhythmia in a Neonate With Biallelic Stop-Gain Variant in TMEM161B: Expanding the Phenotype.

Bicuspid Aortic Valve with Giant Non-Coronary Sinus Aneurysm Compressing the Sinoatrial Node Causing Arrhythmia and Coarctation of the Aorta: A Case on Clinical Decision-Making and Surgical Challenges.