KEGG DISEASE: Aortic valve disease

DISEASE: Aortic valve disease

Entry

H00554                      Disease

Name

Aortic valve disease;
Bicuspid aortic valve

Description

Aortic valve disease (AOVD), also known as 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

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
     LA8A  Congenital anomaly of a ventriculo-arterial valve or adjacent regions
      H00554  Aortic valve disease
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06511  NOTCH signaling
   H00554  Aortic valve disease

Pathway

hsa04330

Notch signaling pathway

Network

nt06511 NOTCH signaling

Gene

(AOVD1) NOTCH1 [HSA:4851] [KO:K02599]
(AOVD2) SMAD6 [HSA:4091] [KO:K04677]
(AOVD3) ROBO4 [HSA:54538] [KO:K06784]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:21532774

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:21181071

Authors

Yuan SM, Jing H

Title

The bicuspid aortic valve and related disorders.

Journal

Sao Paulo Med J 128:296-301 (2010)
DOI:10.1590/S1516-31802010000500010

Reference

PMID:20579534

Authors

Siu SC, Silversides CK

Title

Bicuspid aortic valve disease.

Journal

J Am Coll Cardiol 55:2789-800 (2010)
DOI:10.1016/j.jacc.2009.12.068

Reference

PMID:22275001

Authors

Tan HL, Glen E, Topf A, Hall D, O'Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD

Title

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.

Journal

Hum Mutat 33:720-7 (2012)
DOI:10.1002/humu.22030

Reference

PMID:30455415

Authors

Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wunnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Bjork HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC

Title

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

Journal

Nat Genet 51:42-50 (2019)
DOI:10.1038/s41588-018-0265-y

LinkDB

» Japanese version

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