Atrial septal defect - atrioventricular conduction defects syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ASD7
ASD with or without atrioventricular conduction defects
Number of Symptoms 20
OrphanetNr: 1479
OMIM Id: 108900
ICD-10: Q24.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance: Autosomal dominant
9651244 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002092) Pulmonary hypertension 6018322 IBIS 109 / 7739
2
 (HPO:0011568) Double orifice mitral valve 12414819 IBIS 1 / 7739
3
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 5437412 IBIS 316 / 7739
4
 (HPO:0011025) Abnormality of cardiovascular system physiology Very frequent [IBIS] Very frequent [Orphanet] 5437412 IBIS 41 / 7739
5
 (HPO:0001642) Pulmonic stenosis 5437412 IBIS 89 / 7739
6
 (HPO:0010446) Tricuspid stenosis 5437412 IBIS 5 / 7739
7
 (HPO:0004760) Congenital septal defect Very frequent [IBIS] Very frequent [Orphanet] 6018322 IBIS 69 / 7739
8
 (HPO:0001682) Subaortic stenosis rare [HPO:skoehler] 9651244 IBIS 17 / 7739
9
 (HPO:0001636) Tetralogy of Fallot rare [HPO:skoehler] 9651244 IBIS 104 / 7739
10
 (HPO:0001714) Ventricular hypertrophy 9651244 IBIS 20 / 7739
11
 (HPO:0001684) Secundum atrial septal defect Very frequent [IBIS] 6018322 IBIS 14 / 7739
12
 (HPO:0005150) Abnormal atrioventricular conduction Very frequent [IBIS] 9651244 IBIS 16 / 7739
13
 (HPO:0012248) Prolonged PR interval 6018322 IBIS 6 / 7739
14
 (HPO:0011709) Atrioventricular dissociation 6018322 IBIS 3 / 7739
15
 (HPO:0001712) Left ventricular hypertrophy rare [HPO:skoehler] 9651244 IBIS 76 / 7739
16
 (HPO:0004935) Pulmonary artery atresia rare [HPO:skoehler] 9651244 IBIS 12 / 7739
17
 (HPO:0005110) Atrial fibrillation 5437412 IBIS 71 / 7739
18
 (HPO:0012382) Left-to-right shunt 6018322 IBIS 1 / 7739
19
 (HPO:0012722) Heart block 6018322 IBIS 5 / 7739
20
 (MedDRA:10019311) Heart sounds abnormal 6018322 IBIS 4 / 7739

Associated genes:

NKX2-5; GATA4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
NKX2-5 rs104893900 pathogenic RCV000009568.3
NKX2-5 rs104893901 pathogenic RCV000009569.3
NKX2-5 rs104893903 pathogenic RCV000009570.5
NKX2-5 rs104893906 pathogenic RCV000009582.3
NKX2-5 rs104893907 pathogenic RCV000009583.3
NKX2-5 rs137852683 pathogenic RCV000009579.4
NKX2-5 rs387906773 pathogenic RCV000023020.5
NKX2-5 rs387906774 pathogenic RCV000023021.5
NKX2-5 rs397516908 likely pathogenic RCV000037965.2
NKX2-5 rs587782928 pathogenic RCV000144176.1
NKX2-5 rs587782929 pathogenic RCV000144177.1
NKX2-5 rs587782930 pathogenic RCV000144178.1
NKX2-5 rs606231358 pathogenic RCV000009577.3
NKX2-5 rs606231359 pathogenic RCV000009578.3
NKX2-5 rs606231360 pathogenic RCV000009581.5
NKX2-5 rs72554028 likely pathogenic RCV000030338.1

Additional Information:

Clinical Description OMIM Amarasingham and Fleming (1967) and Kahler et al. (1966) reported a total of 3 families with this combination. Because of the rarity of conduction defects with atrial septal defects of the secundum type, this may be a specific ...
Molecular genetics OMIM In 4 multigenerational families with autosomal dominant atrial septal defect and atrioventricular conduction defects, one of which was originally reported by Pease et al. (1976), Schott et al. (1998) analyzed the candidate gene NKX2-5 and identified 3 different ...