| H00550 | |
| H number | H00550 |
| Name | Complete transposition of the great arteries |
| Description | Complete transposition of the great arteries is a congenital heart defect with atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle, resulting in severe cyanosis. Transposition of the great arteries (TGA) is frequently associated with other cardiac malformations such as ventricular septal defect. TGA is divided into three groups. Group I is TGA with intact ventricular septum. Group II is TGA with ventricular septal defect (TGA/VSD). Group III is TGA/VSD with pulmonary stenosis. |
| Category | Congenital malformation |
| Network | - |
| Gene | MED13L [HSA:23389] [KO:K15164] CFC1 [HSA:55997] [KO:K25454] GDF1 [HSA:2657] [KO:K05495] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA85.1 ICD-10: Q20.3 MeSH: D014188 OMIM: 608808 605376 613854 |
| Reference | PMID:18851735 AUTHORS Martins P, Castela E TITLE Transposition of the great arteries. JOURNAL Orphanet J Rare Dis 3:27 (2008) DOI:10.1186/1750-1172-3-27 PMID:17159076 AUTHORS Warnes CA TITLE Transposition of the great arteries. JOURNAL Circulation 114:2699-709 (2006) DOI:10.1161/CIRCULATIONAHA.105.592352 PMID:21532774 AUTHORS Richards AA, Garg V TITLE Genetics of congenital heart disease. JOURNAL Curr Cardiol Rev 6:91-7 (2010) DOI:10.2174/157340310791162703 PMID:23403903 (MED13L) AUTHORS Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A TITLE Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. JOURNAL Eur J Hum Genet 21:1100-4 (2013) DOI:10.1038/ejhg.2013.17 PMID:11799476 (CFC1) AUTHORS Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M TITLE CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. JOURNAL Am J Hum Genet 70:776-80 (2002) DOI:10.1086/339079 PMID:17924340 (GDF1) AUTHORS Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M TITLE Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. JOURNAL Am J Hum Genet 81:987-94 (2007) DOI:10.1086/522890 |