KEGG DISEASE: Double-outlet right ventricle

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:

ICD-10:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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