Aortic arch interruption
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aortic arch interruption | |
| fr | Interruption de la crosse aortique | |
| de | Aortenbogenunterbrechung | |
| es | Interrupción del arco aótico | |
| it | Interruzione dell'arco aortico | |
| nl | Aortaboogonderbreking | |
| pt | Interrupção do arco aórtico | |
| pl | Przerwanie łuku aorty | |
| cs | Interrupce aortálního oblouku | |
| uk | Перерив дуги аорти | |
| zh | 主动脉弓离断 | |
| tr | Aortik ark kesintisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q25.4 | NTBT | attributed | validated |
| ICD-11 | LA8B.22 | E | specific | validated |
| MONDO | 0009010 | E | validated | |
| UMLS | C0152419 | E | validated | |
| GARD | 740 | E | validated | |
| MedDRA | 10022599 | 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:98718Aortic malformation
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Not yet validated | 24457106[PMID] |
| Point prevalence | Unknown | — | Europe | 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.
HPO phenotypes
32 annotations · validated 2021-08-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032554 | Absent pulse | |
| HP:0030148 | Heart murmur | |
| HP:0032092 | Left ventricular outflow tract obstruction | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0020142 | Blood pressure substantially higher in arms than legs | |
| HP:0001635 | Congestive heart failure | |
| HP:0000961 | Cyanosis | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000822 | Hypertension | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0010741 | Pedal edema | |
| HP:0030973 | Postexertional malaise | |
| HP:0002098 | Respiratory distress | |
| HP:0031273 | Shock | |
| HP:0031664 | Systolic heart murmur | |
| HP:0002789 | Tachypnea | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0031784 | Abnormal ascending aorta morphology | |
| HP:0001659 | Aortic regurgitation | |
| HP:0011604 | Aortopulmonary window | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0002875 | Exertional dyspnea | |
| HP:0002315 | Headache | |
| HP:0004417 | Intermittent claudication | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0011712 | Right bundle branch block | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001660 | Truncus arteriosus | |
| Very rare (<4-1%) | ||
| HP:0010883 | Aortic valve atresia | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0001750 | Single ventricle | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30422497[PMID]_29742969[PMID]_24457106[PMID]_27777532[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2299
- This record as JSON: /data/d/2299.json