| H00550 | |
| H番号 | H00550 |
| 名称 | 完全大血管転位症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | MED13L [HSA:23389] [KO:K15164] CFC1 [HSA:55997] [KO:K25454] GDF1 [HSA:2657] [KO:K05495] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA85.1 ICD-10: Q20.3 MeSH: D014188 OMIM: 608808 605376 613854 |
| 文献 | PMID:18851735 著者 Martins P, Castela E タイトル Transposition of the great arteries. 雑誌 Orphanet J Rare Dis 3:27 (2008) DOI:10.1186/1750-1172-3-27 PMID:17159076 著者 Warnes CA タイトル Transposition of the great arteries. 雑誌 Circulation 114:2699-709 (2006) DOI:10.1161/CIRCULATIONAHA.105.592352 PMID:21532774 著者 Richards AA, Garg V タイトル Genetics of congenital heart disease. 雑誌 Curr Cardiol Rev 6:91-7 (2010) DOI:10.2174/157340310791162703 PMID:23403903 (MED13L) 著者 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 タイトル Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 雑誌 Eur J Hum Genet 21:1100-4 (2013) DOI:10.1038/ejhg.2013.17 PMID:11799476 (CFC1) 著者 Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M タイトル CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. 雑誌 Am J Hum Genet 70:776-80 (2002) DOI:10.1086/339079 PMID:17924340 (GDF1) 著者 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 タイトル Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 雑誌 Am J Hum Genet 81:987-94 (2007) DOI:10.1086/522890 |