KEGG   DISEASE: Complete transposition of the great arteries
Entry
H00550                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    Structural developmental anomaly of heart or great vessels
     LA85  Congenital anomaly of an atrioventricular or ventriculo-arterial connection
      H00550  Complete transposition of the great arteries
Gene
CFC1 [HSA:55997] [KO:K25454]
GDF1 [HSA:2657] [KO:K05495]
Other DBs
ICD-11: LA85.1
ICD-10: Q20.3
MeSH: D014188
OMIM: 608808 605376 613854
Reference
  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
Reference
  Authors
Warnes CA
  Title
Transposition of the great arteries.
  Journal
Circulation 114:2699-709 (2006)
DOI:10.1161/CIRCULATIONAHA.105.592352
Reference
  Authors
Richards AA, Garg V
  Title
Genetics of congenital heart disease.
  Journal
Curr Cardiol Rev 6:91-7 (2010)
DOI:10.2174/157340310791162703
Reference
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
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system