Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Synonyms: APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome · PVA/ADA, Fallot type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome | APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome · PVA/ADA, Fallot type |
| fr | Syndrome d'agénésie de la valve pulmonaire-tétralogie de Fallot-absence du canal artériel | AVP/ACA type Fallot |
| de | Pulmonalklappenagenesie-Fallot-Tetralogie-fehlender Ductus arteriosus-Syndrom | Fallot-Typ APV/ADA · Fallot-Typ PVA/ADA |
| es | Síndrome de agenesia válvular pulmonar-tetralogía de Fallot-ausencia de ductus arterioso | APV/ADA tipo Fallot · PVA/ADA tipo Fallot · Síndrome de ausencia de válvula pulmonar-tetralogía de Fallot-ausencia de ductus arterioso |
| it | Sindrome da agenesia della valvola polmonare, tetralogia di Fallot e assenza del dotto arterioso | PVA/ADA, tipo Fallot |
| nl | Agenesie van pulmonalisklep - tetralogie van Fallot - afwezigheid van ductus arteriosus-syndroom | APV/ADA, Fallot-type · Afwezigheid van pulmonalisklep - tetralogie van Fallot - afwezigheid van ductus arteriosus-syndroom · PVA/ADA, Fallot-type |
| pt | Síndrome de agenesia da válvula pulmonar-Tetralogia de Fallot-ausência de canal arterial | PVA/ADA, tipo Fallot |
| pl | Zespół agenezji zastawki płucnej, tetralogii Fallota i braku przewodu tętniczego | APV/ADA, typ Fallota · PVA/ADA, typ Fallota · Zespół braku zastawki płucnej, tetralogii Fallota i braku przewodu tętniczego |
| cs | Syndrom zahrnující agenezi pulmonální chlopně, Fallotovu tetralogii a absenci ductus arteriosus | APV/ADA, Fallotův typ · Syndrom zahrnující absenci pulmonální chlopně, Fallotovu tetralogii a absenci ductus arteriosus · PVA/ADA, Fallotův typ |
| uk | Синдром агенезії легеневого клапана-тетради Фалло-відсутності відкритої артеріальної протоки | Синдром відсутності легеневого клапана - тетради Фалло - відсутності відкритої артеріальної протоки · APV/ADA, тип Фалло · PVA/ADA, тип Фалло |
| zh | 肺动脉瓣发育不全-法洛四联症-动脉导管缺如综合征 | 肺动脉瓣缺失-法洛四联症-动脉导管缺失综合征 |
| tr | Pulmoner kapak agenezisi-Fallot tetralojisi-duktus arteriyozus sendromunun yokluğu | Pulmoner kapak yokluğu-Fallot tetralojisi-duktus arteriyozus sendromunun yokluğu · APV/ADA, Fallot tipi · PVA/ADA, Fallot tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q22.2 | NTBT | attributed | validated |
| ICD-11 | LA88.20 | E | specific | validated |
| MONDO | 0015103 | E | validated | |
| UMLS | C4707896 | E | validated | |
| GARD | 19780 | 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:982Pulmonary valve agenesis
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101206
- This record as JSON: /data/d/101206.json