Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.
Features include common findings: Complete right bundle branch block and Prolonged PR interval; and sometimes findings: Left anterior fascicular block and Left posterior fascicular block. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 3 | Complete right bundle branch block, Complete heart block with broad QRS complexes, Sudden cardiac death |
Brain and nerves | 2 | Left anterior fascicular block, Left posterior fascicular block |
Muscles | 2 | Left anterior fascicular block, Left posterior fascicular block |
Lungs and breathing | 1 | Dyspnea |
SCN5A function has not been fully characterized.
Progressive familial heart block, type 1A is associated with mutations in the SCN5A gene on chromosome 3.
Genetic testing for SCN5A is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for progressive familial heart block, type 1A has been reported in the published literature.
Phenotype severity distribution: 2 common features.
No clinical trials have been registered for progressive familial heart block, type 1A.
3 publications have been identified in PubMed for progressive familial heart block, type 1A. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).
Tuijnenburg F (2025). [PMID: 40706751](https://pubmed.ncbi.nlm.nih.gov/40706751/). *Indian pacing and electrophysiology journal*. [Review / Meta-Analysis]
Behr ER (2025). [PMID: 40165484](https://pubmed.ncbi.nlm.nih.gov/40165484/). *Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology*. [Diagnostic / Biomarker]
Han S (2025). [PMID: 40271130](https://pubmed.ncbi.nlm.nih.gov/40271130/). *Frontiers in cardiovascular medicine*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center