atrial septal defect 7
Findings
No curated finding names atrial septal defect 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Definition from the Mondo Disease Ontology (MONDO:0007173), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Atrioventricular blockHPOHP:0001678
- 24 of 24 reported patients
- Mobitz I atrioventricular blockHPOHP:0011707
- 1 of 1 reported patient
- Secundum atrial septal defectHPOHP:0001684
- 1 of 1 reported patient
- Sick sinus syndromeHPOHP:0011704
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 27 of 33 reported patients
- Abnormal cardiac septum morphologyHPOHP:0001671
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPO
Show the remaining 1
- Subvalvular aortic stenosisHPOHP:0001682
- 1 of 34 reported patients
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.
- NKX2-5HGNC:2488
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: atrial septal defect 7
- Also called
- ASD with or without atrioventricular conduction defectsatrial heart septal defect caused by mutation in NKX2-5atrial heart septal defect type 7atrial septal defect-atrioventricular conduction defects syndromeNKX2-5 atrial heart septal defect