ORPHA:860
Congenitally uncorrected transposition of the great arteries
Synonyms: Discordant ventriculoarterial connections · Transposition of the great vessels
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare congenital cardiac malformation characterized by a connection of the morphologically right ventricle to the aorta, and of the morphologically left ventricle to the pulmonary trunk (atrioventricular concordance and ventriculoarterial VA discordance).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenitally uncorrected transposition of the great arteries | Discordant ventriculoarterial connections · Transposition of the great vessels |
| fr | Transposition congénitalement non corrigée des gros vaisseaux | Connexions ventriculo-artérielles discordantes · Transposition des gros vaisseaux |
| de | Kongenitale unkorrigierte Transposition der großen Arterien | Diskordante ventrikuloarterielle Verbindung · Kongenitale nicht korrigierte Transposition der großen Gefäße |
| es | Transposición de las grandes arterias congénitamente no corregida | Conexiones ventriculoarteriales discordantes · Transposición de los grandes vasos |
| it | Trasposizione congenitamente non corretta delle grandi arterie | Connessioni ventricolo-arteriose discordanti · Trasposizione dei grandi vasi |
| nl | Congenitaal ongecorrigeerde transpositie van de grote slagaders | Congenitaal ongecorrigeerde transpositie van de grote arteriën · Discordante ventriculoarteriële verbindingen · Transpositie van de grote vaten |
| pt | Transposição das grandes artérias sem correção congénita | Conexões ventriculoarteriais discordantes · Transposição dos grandes vasos |
| pl | Wrodzone nieskorygowane przełożenie wielkich pni tętniczych | Ventriculoarterial discordance with atrioventricular concordance · Wrodzone nieskorygowane przełożenie wielkich pni tętniczych |
| cs | Vrozená nekorigovaná transpozice velkých tepen | Izolovaná ventrikuloarteriální diskordance · Ventrikuloarteriální diskordance s atrioventrikulární konkordancí |
| uk | Вроджена некорегована транспозиція великих артерій (магістральних судин) | Вроджена невиправлена транспозиція магістральних судин · Декстро-транспозиція великих артерій · D-транспозиція великих артерій · Ізольована вентрикулоартеріальна дискоординація · Вентрикулоартеріальна дискордантність з атріовентрикулярною конкордантністю |
| zh | 先天性非矫正型大动脉转位 | 心室动脉错位伴房室协调 |
| tr | Büyük arterlerin doğumsal hatalı transpozisyonu | Büyük arterlerin D transpozisyonu · İzole ventriküloarteriyel uyumsuzluk · Büyük arterlerin dekstro transpozisyonu · Büyük damarların doğumsal doğru olmayan transpozisyonu · Atriyoventriküler uyumla ventriküloarteriyel uyumsuzluk |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608808 | BTNT | validated | |
| OMIM | 613854 | BTNT | validated | |
| ICD-10 | Q20.3 | NTBT | inclusion | validated |
| ICD-11 | LA85.1 | NTBT | specific | validated |
| MONDO | 0019443 | E | validated | |
| MONDO | 19443 | E | validated | |
| UMLS | C3531771 | E | validated | |
| GARD | 5476 | 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 (2):
- ORPHA:271853Genetic cardiac anomaly
rare genetic diseases - ORPHA:216675Transposition of the great arteries
rare developmental anomalies during embryogenesis; rare cardiac malformations
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Genes
0 direct · 6 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 25 / 100 000 | Worldwide | Value and class | Validated | 34886679[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 24.25 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| 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
33 annotations · validated 2021-08-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011563 | Abnormal ventriculoarterial connection | |
| HP:0011028 | Abnormality of blood circulation | |
| HP:0001693 | Cardiac shunt | |
| HP:0000961 | Cyanosis | |
| HP:0030148 | Heart murmur | |
| HP:0012418 | Hypoxemia | |
| HP:0001649 | Tachycardia | |
| Frequent (79-30%) | ||
| HP:0025074 | Abnormal QRS complex | |
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0006704 | Abnormal coronary artery morphology | |
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0001631 | Atrial septal defect | |
| HP:0200128 | Biventricular hypertrophy | |
| HP:0001640 | Cardiomegaly | |
| HP:0001635 | Congestive heart failure | |
| HP:0031348 | Dextrotransposition of the great arteries | |
| HP:0001508 | Failure to thrive | |
| HP:0000975 | Hyperhidrosis | |
| HP:0032092 | Left ventricular outflow tract obstruction | |
| HP:0031349 | Levotransposition of the great arteries | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0002789 | Tachypnea | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001680 | Coarctation of aorta | |
| HP:0002240 | Hepatomegaly | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0001518 | Small for gestational age | |
| Very rare (<4-1%) | ||
| HP:0009800 | Maternal diabetes | |
| HP:0011438 | Maternal teratogenic exposure | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 27296724[PMID]_18851735[PMID]_24890983[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/860
- This record as JSON: /data/d/860.json