ORPHA:3384
Common arterial trunk
Synonyms: CAT · Common aorticopulmonary trunk · Common truncus arteriosus · Persistent truncus arteriosus · Truncus arteriosus · Truncus arteriosus communis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital cardiac malformation characterized by a single arterial trunk arising from the heart, giving origin sequentially to the coronary arteries, one or more pulmonary arteries, and the systemic arterial circulation. Two forms exist: common arterial trunk (CAT) with aortic dominance (unobstructed aortic arch) and one or both pulmonary arteries originating from the trunk, and CAT with pulmonary dominance and interrupted aortic arch or coarctation.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Common arterial trunk | CAT · Common aorticopulmonary trunk · Common truncus arteriosus · Persistent truncus arteriosus · Truncus arteriosus · Truncus arteriosus communis |
| fr | Tronc artériel commun | Persistance du truncus arteriosus · Truncus arteriosus · Truncus arteriosus communis |
| de | Truncus arteriosus communis | Persistierender Truncus arteriosus · TAC · Truncus arteriosus · Truncus arteriosus persistens |
| es | Tronco arterioso común | TAC · Tronco aórtico-pulmonar común · Truncus arteriosus · Truncus arteriosus común · Truncus arteriosus persistente |
| it | Tronco arterioso comune | Tronco arterioso comune · CAT · Tronco aortico-polmonare comune · Tronco arterioso · Tronco arterioso persistente |
| nl | Truncus arteriosus communis | Gemeenschappelijke aorticopulmonale stam · Gemeenschappelijke arteriestam · Gemeenschappelijke arteriële stam · Gemeenschappelijke truncus arteriosus · Persisterende truncus arteriosus · TAC · Truncus arteriosus |
| pt | Tronco arterial comum | Truncus arteriosus comum · TAC · Tronco aórticopulmonar comum · Truncus arteriosus · Truncus arteriosus persistente · Truncus arteriosus communis |
| pl | Wspólny pień tętniczy | TAC · Wspólny pień tętniczo-płucny |
| cs | Truncus arteriosus | TAC · Truncus arteriosus persistens · Společný aortopulmonální kmen · Společný tepenný kmen |
| uk | Загальний артеріальний стовбур | CAT · Загальний аорто-легеневий стовбур · Truncus arteriosus |
| zh | 动脉干 | 共肺动脉主动脉干 |
| tr | Trunkus arteriozus | TAC · Ortak arteriyel gövde · Ortak aortik-pulmoner gövde |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217095 | NTBT | validated | |
| OMIM | 620294 | BTNT | validated | |
| ICD-10 | Q20.0 | E | specific | validated |
| ICD-11 | LA85.4 | E | specific | validated |
| MONDO | 0018072 | E | validated | |
| MONDO | 18072 | E | validated | |
| MeSH | D014339 | E | validated | |
| UMLS | C0041207 | E | validated | |
| MedDRA | 10044703 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:2445Conotruncal heart malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:477805Genetic cardiac malformation
rare genetic diseases
4
Genes
1 direct · 5 via subtypes| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLXND1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9107 | ENSG00000004399 | 604282 | 3q22.1 | plexin D1 | 24254849[PMID] |
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GATA6 | ORPHA:665044Common arterial trunk with aortic dominance | Disease-causing germline mutation(s) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 19666519[PMID]_38351237[PMID] |
| GATA6 | ORPHA:665058Common arterial trunk with pulmonary dominance and interrupted aortic arch | Disease-causing germline mutation(s) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 19666519[PMID]_38351237[PMID] |
| TBX1 | ORPHA:665044Common arterial trunk with aortic dominance | Disease-causing germline mutation(s) in | Assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | 14585638[PMID]_29509905[PMID] |
| TBX1 | ORPHA:665058Common arterial trunk with pulmonary dominance and interrupted aortic arch | Disease-causing germline mutation(s) in | Assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | 14585638[PMID]_29509905[PMID] |
| NKX2-6 | ORPHA:665058Common arterial trunk with pulmonary dominance and interrupted aortic arch | Major susceptibility factor in | Assessed | HGNC:32940 | ENSG00000180053 | 611770 | 8p21.2 | NK2 homeobox 6 | 15649947[PMID]_25195019[PMID] |
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Prevalence and incidence
16 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.3 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.5 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.3 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.6 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.7 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.4 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| 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
36 annotations · validated 2021-07-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001660 | Truncus arteriosus | |
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0031653 | Abnormal heart valve physiology | |
| HP:0000961 | Cyanosis | |
| HP:0001649 | Tachycardia | |
| Frequent (79-30%) | ||
| HP:0011660 | Anomalous origin of one pulmonary artery from ascending aorta | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001640 | Cardiomegaly | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0012020 | Right aortic arch | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0002789 | Tachypnea | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0006704 | Abnormal coronary artery morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0025575 | Abnormal superior vena cava morphology | |
| HP:0000849 | Adrenocortical abnormality | |
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities | |
| HP:0031014 | Arteria lusoria | |
| HP:0001631 | Atrial septal defect | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0100598 | Pulmonary edema | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0011640 | Single coronary artery origin | |
| HP:0001636 | Tetralogy of Fallot | |
| Very rare (<4-1%) | ||
| HP:0031635 | Anomalous origin of the left common carotid artery from the brachiocephalic artery | |
| HP:0004971 | Pulmonary artery hypoplasia | |
| HP:0001669 | Transposition of the great arteries | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 27262857[PMID]_29977268[PMID]_30596352[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3384
- This record as JSON: /data/d/3384.json