| H00554 | |
| H number | H00554 |
| 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 |
| Network | nt06511(H00554) NOTCH signaling |
| Gene | (AOVD1) NOTCH1 [HSA:4851] [KO:K02599] (AOVD2) SMAD6 [HSA:4091] [KO:K04677] (AOVD3) ROBO4 [HSA:54538] [KO:K06784] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA8A.22 ICD-10: Q23.1 MeSH: D006349 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 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 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 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 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 |