ORPHA:1457
Coarctation of aorta
Synonyms: Aorta coarctation
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare congenital non-syndromic heart malformation characterized by a discrete luminal narrowing of the aorta, typically located at the junction between the aortic arch and the descending aorta, opposite the site of ductus arteriosus insertion. Coarctation of aorta (CoA) is often associated with other cardiac anomalies including bicuspid aortic valve and tubular hypoplasia of the transverse arch.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coarctation of aorta | Aorta coarctation |
| fr | Coarctation de l'aorte | |
| de | Aortenisthmusstenose | Aortenkoarktation |
| es | Coartación de la aorta | |
| it | Coartazione dell'aorta | |
| nl | Aortacoarctatie | Coarctatie van aorta · Coarctatio aortae |
| pt | Coartação da aorta | Aorta coartação |
| pl | Koarktacja aorty | = en |
| cs | Koarktace aorty | = en |
| uk | Коарктація аорти | |
| zh | 主动脉缩窄 | |
| tr | Aort koarktasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120000 | E | validated | |
| ICD-10 | Q25.1 | E | specific | validated |
| ICD-11 | LA8B.21 | E | specific | validated |
| MONDO | 0007345 | E | validated | |
| MeSH | D001017 | E | validated | |
| UMLS | C0003492 | E | validated | |
| GARD | 5828 | E | validated | |
| MedDRA | 10009807 | 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 (1):
- ORPHA:98718Aortic malformation
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1455OBSOLETE: Autosomal dominant coarctation of aorta referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
20 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 21.3 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 27.5 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 59.4 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 31 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 32.5 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 39.6 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 24.9 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.7 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 21.3 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.5 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 16.9 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.1 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 40.1 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 38.1 / 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 |
| Prevalence at birth | 1-5 / 10 000 | 35.6 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 78.5 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 43.7 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.7 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012305 | Coarctation of the descending aortic arch | |
| Very frequent (99-80%) | ||
| HP:0011103 | Abnormal left ventricular outflow tract morphology | |
| Frequent (79-30%) | ||
| HP:0001647 | Bicuspid aortic valve | |
| HP:0001640 | Cardiomegaly | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0004383 | Hypoplastic left heart | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0000822 | Hypertension | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0011682 | Perimembranous ventricular septal defect | |
| HP:0005301 | Persistent left superior vena cava | |
| Very rare (<4-1%) | ||
| HP:0010883 | Aortic valve atresia | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001297 | Stroke | |
| HP:0001636 | Tetralogy of Fallot | |
| Excluded (0%) | ||
| HP:0011611 | Interrupted aortic arch | |
| HP:0005295 | Pseudocoarctation of the aorta | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28377475[PMID]_22088486[PMID]_23731614[PMID]_15690347[PMID]_15712195[PMID]_25737506[PMID]_26323199[PMID]_26100586[PMID]_26025083[PMID]_14708093[PMID]_25634191[PMID]_8487284[PMID]_1018301[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1457
- This record as JSON: /data/d/1457.json