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atrial fibrillation, familial, 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial fibrillation, familial, 18

MONDO:0015001

Also known as:ATFB18MYL4 familial atrial fibrillationatrial fibrillation, familial, 18; ATFB18

Overview

Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.

GeneticsAutosomal dominant · MYL4 (chr 17)

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 common findings: Permanent atrial fibrillation, First degree atrioventricular block, Palpitations, and Paroxysmal atrial fibrillation; and sometimes findings: Third degree atrioventricular block and Bradycardia.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Permanent atrial fibrillation, Third degree atrioventricular block, Bradycardia

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.

MYL4 encodes myosin light chain 4 (197 aa). Regulatory light chain of myosin. Does not bind calcium Highest expression in Heart Atrial Appendage (2,518 TPM) and Whole Blood (33.1 TPM).

Atrial fibrillation, familial, 18 is associated with mutations in the MYL4 gene on chromosome 17.

MYL4 is classified as a druggable target with score 2.5.

Diagnosis

Genetic testing for MYL4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial fibrillation, familial, 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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.

No clinical trials have been registered for atrial fibrillation, familial, 18.

285 publications have been identified in PubMed for atrial fibrillation, familial, 18. Kisho has analyzed 154 by research type. Research spans Epidemiology / Natural History (41%), Clinical Trial Publication (26%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Disease patterns and progression	63	41%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617280

GARD

Genetic and Rare Diseases Info Center

GARD:16219

Questions for Your Care Team

→Should I pursue genetic testing for MYL4, 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?

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Kisho

atrial fibrillation, familial, 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

atrial fibrillation, familial, 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications