 | DISEASE: Aortic valve disease | Help |
| Entry | |
|---|
| 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 Cellular process nt06546 IgSF CAM signaling H00554 Aortic valve disease BRITE hierarchy |
|---|
| Pathway | | hsa04330 | Notch signaling pathway |
| hsa04517 | IGSF CAM signaling |
|
|---|
| Network | nt06511 NOTCH signalingnt06546 IgSF CAM signaling |
|---|
| Gene | (AOVD1) NOTCH1 [HSA:4851] [KO:K02599] (AOVD2) SMAD6 [HSA:4091] [KO:K04677] (AOVD3) ROBO4 [HSA:54538] [KO:K06784] |
|---|
| Other DBs | | OMIM: | 109730 614823 618496 |
|
|---|
| 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 |
|---|
| » Japanese version | All links Disease (3) OMIM (3) All databases (3) Download RDF |