ORPHA:1329
Complete atrioventricular septal defect
Synonyms: CAVC · Complete AVSD · Complete atrioventricular canal · Complete atrioventricular canal defect · Complete atrioventricular septal defect with atrial and ventricular components
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complete atrioventricular septal defect | CAVC · Complete AVSD · Complete atrioventricular canal · Complete atrioventricular canal defect · Complete atrioventricular septal defect with atrial and ventricular components |
| fr | Canal atrioventriculaire complet | CAVC · Communication atrioventriculaire complète · Communication auriculo-ventriculaire complète · Défaut complet du septum atrioventriculaire · Défaut complet du septum atrioventriculaire avec composantes auriculaires et ventriculaires · Défaut septal atrioventriculaire complet · Défaut septal auriculo-ventriculaire complet |
| de | Atrioventrikulärer Septumdefekt, kompletter | CAVC · Kompletter AV-Kanal · Kompletter AVSD |
| es | Canal auriculoventricular completo | |
| it | Difetto completo del setto atrioventricolare | AVSD completo · CAVC · Canale atrioventricolare completo · Difetto completo del setto atrioventricolare con componenti atriali e ventricolari · Difetto del canale atrioventricolare completo |
| nl | Totaal atrioventriculair septumdefect | Totaal AVSD · Totaal atrioventriculair septumdefect met atriale en ventriculaire componenten · CAVC · Compleet atrioventriculair kanaal · Compleet atrioventriculair kanaaldefect |
| pt | Defeito septal auriculo-ventricular completo | AVSD completo |
| pl | Całkowity ubytek przedsionkowo-komorowy | Całkowity ubytek przegrody przedsionkowo-komorowej |
| cs | Kompletní atrioventrikulární kanál | CAVC · Kompletní defekt atrioventrikulárního septa · Kompletní AVSD · Společný atrioventrikulární kanál |
| uk | Повний дефект атріовентрикулярної перегородки | CAVC · Повний атріовентрикулярний канал · Повна вада атріовентрикулярного каналу · Повний дефект атріовентрикулярної перегородки з передсердним та шлуночковим компонентами · Повна комплектація AVSD |
| zh | 完全型房室间隔缺损 | 完全性房室管缺损 |
| tr | Tam atriyoventriküler septal defekt | CAVC · Tam AVSD · Tam atriyoventriküler kanal defekti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.2 | NTBT | inclusion | validated |
| ICD-11 | LA87.43 | E | specific | validated |
| MONDO | 0015273 | E | validated | |
| UMLS | C0344787 | E | validated | |
| GARD | 1454 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98722Atrioventricular septal defect
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:99066OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome referred to · inactive
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Genes
0 direct · 8 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GATA4 | ORPHA:99067Complete atrioventricular septal defect with ventricular hypoplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 18672102[PMID]_17643447[PMID] |
| GATA4 | ORPHA:99068Complete atrioventricular septal defect-tetralogy of Fallot | Disease-causing germline mutation(s) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 18672102[PMID]_17643447[PMID] |
| GATA6 | ORPHA:99067Complete atrioventricular septal defect with ventricular hypoplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 20581743[PMID] |
| CRELD1 | ORPHA:99067Complete atrioventricular septal defect with ventricular hypoplasia | Major susceptibility factor in | Assessed | HGNC:14630 | ENSG00000163703 | 607170 | 3p25.3 | CRELD disulfide isomerase 1 | 12632326[PMID]_15096951[PMID] |
| CRELD1 | ORPHA:99068Complete atrioventricular septal defect-tetralogy of Fallot | Major susceptibility factor in | Assessed | HGNC:14630 | ENSG00000163703 | 607170 | 3p25.3 | CRELD disulfide isomerase 1 | 12632326[PMID]_15096951[PMID] |
| MEF2C | ORPHA:576227Complete atrioventricular septal defect without ventricular hypoplasia | Major susceptibility factor in | Assessed | HGNC:6996 | ENSG00000081189 | 600662 | 5q14.3 | myocyte enhancer factor 2C | 35719119[PMID] |
| NR2F2 | ORPHA:99067Complete atrioventricular septal defect with ventricular hypoplasia | Major susceptibility factor in | Assessed | HGNC:7976 | ENSG00000185551 | 107773 | 15q26.2 | nuclear receptor subfamily 2 group F member 2 | 24702954[PMID] |
| NR2F2 | ORPHA:99068Complete atrioventricular septal defect-tetralogy of Fallot | Major susceptibility factor in | Assessed | HGNC:7976 | ENSG00000185551 | 107773 | 15q26.2 | nuclear receptor subfamily 2 group F member 2 | 24702954[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | 16722604[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2021-07-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001674 | Complete atrioventricular canal defect | |
| HP:0010445 | Primum atrial septal defect | |
| Very frequent (99-80%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0031650 | Abnormal atrioventricular valve physiology | |
| HP:0005120 | Abnormal cardiac atrium morphology | |
| HP:0025447 | Displacement of the papillary muscles | |
| HP:0001508 | Failure to thrive | |
| HP:0012382 | Left-to-right shunt | |
| HP:0030973 | Postexertional malaise | |
| HP:0030950 | Pulmonary venous hypertension | |
| HP:0031664 | Systolic heart murmur | |
| Frequent (79-30%) | ||
| HP:0001640 | Cardiomegaly | |
| HP:0001635 | Congestive heart failure | |
| HP:0000961 | Cyanosis | |
| HP:0011968 | Feeding difficulties | |
| HP:0002240 | Hepatomegaly | |
| HP:0000975 | Hyperhidrosis | |
| HP:0030864 | Intercostal retractions | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0001708 | Right ventricular failure | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0001649 | Tachycardia | |
| HP:0002789 | Tachypnea | |
| HP:0030828 | Wheezing | |
| Occasional (29-5%) | ||
| HP:0031595 | Abnormal P wave | |
| HP:0001678 | Atrioventricular block | |
| HP:0030830 | Crackles | |
| HP:0030848 | Elevated jugular venous pressure | |
| HP:0004890 | Elevated pulmonary artery pressure | |
| HP:0100786 | Hypersomnia | |
| HP:0001254 | Lethargy | |
| HP:0011712 | Right bundle branch block | |
| HP:0031658 | Third heart sound | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 32965865[PMID]_16722604[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1329
- This record as JSON: /data/d/1329.json