KEGG   DISEASE: H00554Help
Entry
H00554                      Disease                                

Name
Bicuspid aortic valve
Description
Bicuspid aortic valve is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid aortic valve is typically made of two unequal-sized leaflets, whereas the normal valve is known to have three leaflets.
Category
Developmental disorder; Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00554  Bicuspid aortic valve
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q20-Q28  Congenital malformations of the circulatory system
   Q23  Congenital malformations of aortic and mitral valves
    H00554  Bicuspid aortic valve
BRITE hierarchy
Pathway
Notch signaling pathway
Gene
NOTCH1 [HSA:4851] [KO:K02599]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:21532774 (gene)
  Authors
Richards AA, Garg V
  Title
Genetics of congenital heart disease.
  Journal
Curr Cardiol Rev 6:91-7 (2010)
Reference
PMID:21181071 (description)
  Authors
Yuan SM, Jing H
  Title
The bicuspid aortic valve and related disorders.
  Journal
Sao Paulo Med J 128:296-301 (2010)
Reference
PMID:20579534 (description)
  Authors
Siu SC, Silversides CK
  Title
Bicuspid aortic valve disease.
  Journal
J Am Coll Cardiol 55:2789-800 (2010)

» Japanese version

DBGET integrated database retrieval system