ORPHA:216694
Congenitally corrected transposition of the great arteries
Synonyms: Congenitally corrected transposition of the great vessels · Discordant ventriculoarterial and atrioventricular connections · Double discordance
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare cardiac malformation characterized by the combination of discordant atrioventricular (AV) and ventriculo-arterial (VA) connections so that the morphologically right atrium connects to the morphologically left ventricle, the morphologically left atrium connects to the morphologically right ventricle, the morphologically right ventricle connects to the aorta, and the morphologically left ventricle connects to the pulmonary trunk. It is usually accompanied by other cardiovascular malformations which determine the clinical picture.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenitally corrected transposition of the great arteries | Congenitally corrected transposition of the great vessels · Discordant ventriculoarterial and atrioventricular connections · Double discordance |
| fr | Transposition congénitalement corrigée des gros vaisseaux | Discordances ventriculo-artérielle et atrio-ventriculaire · Double discordance · Transposition congénitalement corrigée des grosses artères |
| de | Kongenital korrigierte Transposition der großen Arterien | Atrioventrikuläre und ventrikuloarterielle Diskordanz · Doppelte Diskordanz · Kongenital korrigierte Transposition der großen Gefäße |
| es | Transposición de las grandes arterias congénitamente corregida | Discordancia de la conexión ventriculoarterial y auriculoventricular · Doble discordancia · Levo-transposición de las grandes arterias · TGACC · Transposición de los grandes vasos congénitamente corregida |
| it | Trasposizione congenitamente corretta delle grandi arterie | Connessioni discordanti ventricolo-arteriose e atrio-ventricolari · Doppia discordanza |
| nl | Congenitaal gecorrigeerde transpositie van de grote slagaders | Congenitaal gecorrigeerde transpositie van de grote arteriën · Congenitaal gecorrigeerde transpositie van de grote vaten · Discordante ventriculoarteriële en atrioventriculaire verbindingen · Dubbele discordantie |
| pt | Transposição das grandes artérias com correção congénita | Transposição de grandes vasos com correção congénita · Discordância dupla · Conexões ventriculoarteriais e atrioventriculares discordantes |
| pl | Wrodzone skorygowane przełożenie wielkich pni tętniczych | Komorowotętnicza i przedsionkowokomorowa niezgodność · Lewo-transpozycja wielkich pni tętniczych · L-transpozycja wielkich pni tętniczych · Niezgodność połączeń komorowotętniczych i przedsionkowokomorowych · Odwrócenie komór · Wrodzone skorygowane przełożenie wielkich naczyń |
| cs | Vrozeně opravená transpozice velkých tepen | Diskordantní ventrikuloarteriální a atrioventrikulární spojení · Dvojitá diskordance · L-transpozice velkých tepen · Levo-transpozice velkých tepen · Ventrikulární inverze · Ventrikuloarteriální a atrioventrikulární diskordance · Vrozeně opravená transpozice velkých cév |
| uk | Вроджена кореговна танспозиція великих артерій (магістральних судин) | Вроджена корекція транспозиції магістральних судин · Дискордантні вентрикулоартеріальні та атріовентрикулярні зєднання · Подвійний дисонанс · Левостороння транспозиція великих артерій · L-транспозиція великих артерій · Інверсія шлуночків · Вентрикулоартеріальна та атріовентрикулярна дискоординація |
| zh | 先天矫正型大动脉转位 | 心室动脉与房室连接不一致 |
| tr | Büyük arterlerin doğumsal düzeltilmiş transpozisyonu | Çift diskordans · Ventriküler inversiyon · Büyük arterlerin L-transpozisyonu · Büyük arterlerin levo transpozisyonu · Ventriküloarteriyel ve atriyoventriküler diskordans · Büyük damarların doğumsal düzeltilmiş transpozisyonu · Uyumsuz ventriküloarteriyel ve atriyoventriküler bağlantılar |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q20.5 | E | specific | validated |
| ICD-11 | LA85.00 | E | specific | validated |
| MONDO | 0016301 | E | validated | |
| MeSH | D000080041 | E | validated | |
| UMLS | C0344616 | E | validated | |
| GARD | 1544 | E | validated | |
| MedDRA | 10011120 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:216675Transposition of the great arteries
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
49 annotations · validated 2019-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006705 | Abnormal atrioventricular valve morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0011103 | Abnormal left ventricular outflow tract morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0011553 | Discordant atrioventricular connection | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0011552 | Ambiguous atrioventricular connection | |
| HP:0001631 | Atrial septal defect | |
| HP:0011539 | Atrial situs ambiguous | |
| HP:0001662 | Bradycardia | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0030148 | Heart murmur | |
| HP:0001642 | Pulmonic stenosis | |
| Occasional (29-5%) | ||
| HP:0031567 | Abnormal aortic valve cusp morphology | |
| HP:0001659 | Aortic regurgitation | |
| HP:0011675 | Arrhythmia | |
| HP:0011538 | Atrial situs inversus | |
| HP:0011667 | Bilateral superior vena cava with bridging vein | |
| HP:0001635 | Congestive heart failure | |
| HP:0000961 | Cyanosis | |
| HP:0001651 | Dextrocardia | |
| HP:0011590 | Double aortic arch | |
| HP:0011581 | Double outlet left ventricle | |
| HP:0003388 | Easy fatigability | |
| HP:0010316 | Ebstein anomaly of the tricuspid valve | |
| HP:0001508 | Failure to thrive | |
| HP:0011705 | First degree atrioventricular block | |
| HP:0012537 | Food intolerance | |
| HP:0011621 | Gerbode ventricular septal defect | |
| HP:0005185 | Global systolic dysfunction | |
| HP:0012722 | Heart block | |
| HP:0011707 | Mobitz I atrioventricular block | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0011682 | Perimembranous ventricular septal defect | |
| HP:0006699 | Premature atrial contractions | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0011663 | Right ventricular cardiomyopathy | |
| HP:0011704 | Sick sinus syndrome | |
| HP:0001750 | Single ventricle | |
| HP:0001696 | Situs inversus totalis | |
| HP:0004755 | Supraventricular tachycardia | |
| HP:0011688 | Supraventricular tachycardia with an accessory connection mediated pathway | |
| HP:0001709 | Third degree atrioventricular block | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
| Very rare (<4-1%) | ||
| HP:0004749 | Atrial flutter | |
| HP:0011599 | Mesocardia | |
| HP:0004756 | Ventricular tachycardia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30760124[PMID]_29476598[PMID]_31027566[PMID]_31266912[PMID]_21569592[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/216694
- This record as JSON: /data/d/216694.json