Partial atrioventricular septal defect
Synonyms: PAVC · Partial AVSD · Partial atrioventricular canal defect
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial atrioventricular septal defect | PAVC · Partial AVSD · Partial atrioventricular canal defect |
| fr | Canal atrioventriculaire partiel | PAVC · CAV partiel · Communication atrioventriculaire partielle · Communication auriculo-ventriculaire partielle · Défaut septal atrioventriculaire partiel · Défaut septal auriculo-ventriculaire partiel |
| de | Atrioventrikulärer Septumdefekt, partieller | Atrioventrikulärer Kanal, partieller · PAVC · Partieller AVSD |
| es | Canal auriculoventricular parcial | CAVP · DSAV parcial · Defecto del septo auriculoventricular parcial · PAVC |
| it | Difetto parziale del setto atrioventricolare | AVSD parziale · Difetto parziale del canale atrioventricolare · PAVC |
| nl | Partieel atrioventriculair septumdefect | PAVC · Partieel AVSD · Partieel defect van atrioventriculair kanaal |
| pt | Canal auriculo-ventricular parcial | |
| pl | Częściowy kanał przedsionkowo-komorowy | = en |
| cs | Částečný atrioventrikulární kanál | PAVC · Částečný defekt atrioventrikulárního kanálu |
| uk | Часткова атріовентрикулярна комунікація | Часткова вада атріовентрикулярного каналу · Частковий AVSD · PAVC |
| zh | 部分房室间隔缺损 | 部分性房室管畸形 |
| tr | Kısmi atriyoventriküler septal defekt | PAVC · Kısmi AVSD · Kısmi atriyoventriküler kanal defekti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.2 | NTBT | attributed | validated |
| ICD-11 | LA87.40 | E | specific | validated |
| MONDO | 0015275 | E | validated | |
| MeSH | C536112 | E | validated | |
| UMLS | C0344735 | E | validated | |
| GARD | 4229 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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
Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| CRELD1 | ORPHA:576235Partial atrioventricular septal defect without ventricular hypoplasia | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14630 | ENSG00000163703 | 607170 | 3p25.3 | CRELD disulfide isomerase 1 | 12632326[PMID]_15096951[PMID]_21080147[PMID] |
| GATA4 | ORPHA:576232Partial atrioventricular septal defect with ventricular hypoplasia | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 17643447[PMID] |
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 | Not yet validated | 23040494[PMID] |
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | Europe | Value and class | Validated | [EXPERT]_17341403[PMID]_12084585[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
25 annotations · validated 2019-05-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011577 | Partial atrioventricular canal defect | |
| Frequent (79-30%) | ||
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0002875 | Exertional dyspnea | |
| HP:0030148 | Heart murmur | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001962 | Palpitations | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0001681 | Angina pectoris | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001692 | Atrial arrhythmia | |
| HP:0004749 | Atrial flutter | |
| HP:0006689 | Bacterial endocarditis | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0001680 | Coarctation of aorta | |
| HP:0011565 | Common atrium | |
| HP:0031298 | Coronary sinus enlargement | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0030853 | Heterotaxy | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001279 | Syncope | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0002326 | Transient ischemic attack | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29722020[PMID]_14762371[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1330
- This record as JSON: /data/d/1330.json