progressive familial heart block, type 1A
Findings
No curated finding names progressive familial heart block, type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.
Definition from the Mondo Disease Ontology (MONDO:0007240), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Prolonged PR intervalHPOHP:0012248
- 8 of 15 reported patients
- Complete right bundle branch blockHPOHP:0011712
- 5 of 15 reported patients
- Left anterior fascicular blockHPOHP:0011711
- 3 of 15 reported patients
- Left posterior fascicular blockHPOHP:0005172
- 3 of 15 reported patients
- SyncopeHPOHP:0001279
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN5AHGNC:10593
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Semidominant · 2018
Where it sits
Other names
6 names
Resolves to: progressive familial heart block, type 1A
- Also called
- heart block, progressive, type IALenegre's diseasePFHB1Aprogressive familial heart block caused by mutation in SCN5Aprogressive familial heart block, type IASCN5A progressive familial heart block