Abnormal origin of right or left pulmonary artery from the aorta
Synonyms: Hemitruncus arteriosus · Pulmonary artery coming from the aorta
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Abnormal origin of right or left pulmonary artery from the aorta | Hemitruncus arteriosus · Pulmonary artery coming from the aorta |
| fr | Artère pulmonaire gauche ou droite d'origine aortique | Artère pulmonaire naissant de l'aorte · Hemitruncus arteriosus |
| de | Pulmonalarterie, der Aorta entstammend | Abnormaler Ursprung der rechten oder linken Pulmonalarterie aus der Aorta · Hemitruncus arteriosus · Ursprungsanomalie der rechten oder linken Pulmonalarterie |
| es | Origen anómalo de la arteria pulmonar derecha o izquierda de la aorta | Hemitruncus arterioso |
| it | Anomala origine dell'arteria polmonare destra o sinistra dall'aorta | Arteria polmonare di origine aortica · Hemitruncus arteriosus |
| nl | Abnormale oorsprong van rechter- of linkerlongslagader in aorta | Longslagader komende vanuit aorta · Hemitruncus arteriosus |
| pt | Artéria pulmonar proveniente da aorta | |
| pl | Tętnica płucna odchodząca od aorty | Częściowy wspólny pień tętniczy · Nieprawidłowe odejście prawej lub lewej tętnicy płucnej od aorty |
| cs | Plicní tepna vycházející z aorty | Hemitruncus arteriosus · Abnormální počátek pravé nebo levé plicní tepny z aorty |
| uk | Аномальне походження правої або лівої легеневої артерії від аорти | Артеріальний гемотрансфузійний синдром · Легенева артерія, що відходить від аорти |
| zh | 右肺动脉或左肺动脉自主动脉起源异常 | 肺动脉主动脉起源 |
| tr | Aorttan sağ veya sol pulmoner arterin anormal orijini | Hemitrunkus arteriozus · Aorttan gelen pulmoner arter |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q25.7 | NTBT | attributed | validated |
| ICD-11 | LA8B.1 | NTBT | attributed | validated |
| MONDO | 0020391 | E | validated | |
| UMLS | C3838927 | E | validated | |
| GARD | 4586 | 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 (2):
- ORPHA:1138Abnormal origin of the pulmonary artery
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:182111Respiratory malformation
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 24182510[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
26 annotations · validated 2021-03-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0005143 | Anomalous origin of right pulmonary artery from ascending aorta | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001635 | Congestive heart failure | |
| HP:0000961 | Cyanosis | |
| HP:0002875 | Exertional dyspnea | |
| HP:0001508 | Failure to thrive | |
| HP:0032092 | Left ventricular outflow tract obstruction | |
| HP:0012382 | Left-to-right shunt | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0011661 | Anomalous origin of left pulmonary artery from ascending aorta | |
| HP:0011604 | Aortopulmonary window | |
| HP:0031014 | Arteria lusoria | |
| HP:0030148 | Heart murmur | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0031934 | Abnormal descending aorta morphology | |
| HP:0001680 | Coarctation of aorta | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0012020 | Right aortic arch | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25905931[PMID]_32854517[PMID]_22467006[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99050
- This record as JSON: /data/d/99050.json