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progressive familial heart block type IB - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive familial heart block type IB

MONDO:0011474

Also known as:PFHB1BTRPM4 progressive familial heart blockprogressive familial heart block caused by mutation in TRPM4

Overview

Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.

GeneticsAutosomal dominant · TRPM4 (chr 19)

ResearchLimited published research (2 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 and Complete right bundle branch block. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Bradycardia, Complete right bundle branch block, Arrhythmia

Genetic Landscape

TRPM4 function has not been fully characterized.

Progressive familial heart block type IB is associated with mutations in the TRPM4 gene on chromosome 19.

Diagnosis

Genetic testing for TRPM4 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 progressive familial heart block type IB.

2 publications have been identified in PubMed for progressive familial heart block type IB. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

Imazio M (2024). [PMID: 39347728](https://pubmed.ncbi.nlm.nih.gov/39347728/). *Journal of cardiovascular medicine (Hagerstown, Md.)*. [Epidemiology / Natural History]
Han MR (2024). [PMID: 39696495](https://pubmed.ncbi.nlm.nih.gov/39696495/). *Clinical epigenetics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604559

GARD

Genetic and Rare Diseases Info Center

GARD:2610

Questions for Your Care Team

→Should I pursue genetic testing for TRPM4, 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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progressive familial heart block type IB

Overview

Clinical Presentation

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

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