KEGG   DISEASE: Double-outlet right ventricle
Entry
H00918                      Disease                                
Name
Double-outlet right ventricle
Description
Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal defect. Chromosomal abnormalities are present in some cases of DORV. Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans.
Category
Cardiovascular disease
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
      H00918  Double-outlet right ventricle
Gene
NKX2-5 [HSA:1482] [KO:K09345]
CFC1 [HSA:55997] [KO:K25454]
GDF1 [HSA:2657] [KO:K05495]
Comment
See also H01525 22q11.2 deletion syndrome.
Other DBs
ICD-11: LA85.2
ICD-10: Q20.1
MeSH: D004310
OMIM: 217095
Reference
  Authors
Obler D, Juraszek AL, Smoot LB, Natowicz MR
  Title
Double outlet right ventricle: aetiologies and associations.
  Journal
J Med Genet 45:481-97 (2008)
DOI:10.1136/jmg.2008.057984
Reference
PMID:14607454 (NKX2-5)
  Authors
McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E
  Title
NKX2.5 mutations in patients with congenital heart disease.
  Journal
J Am Coll Cardiol 42:1650-5 (2003)
DOI:10.1016/j.jacc.2003.05.004
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
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