{"orpha":402075,"name":"Familial bicuspid aortic valve","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Familial BAV"],"definition":"Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402075/","orphanet_url":"https://www.orpha.net/en/disease/detail/402075","names":{"fr":{"name":"Bicuspidie aortique familiale","synonyms":["Bicuspidie valvulaire aortique familiale","VAB familiale","Valve aortique bicuspide familiale"],"definition":"Malformation aortique rare, génétique, définie par la présence d'une valve aortique anormale à deux feuillets chez au moins deux parents au premier degré. Elle est souvent asymptomatique ou peut être associée à une maladie progressive de la valve aortique (régurgitation aortique et/ou sténose aortique, généralement due à la calcification de la valve) et à une aortopathie concomitante (dilatation aortique, anévrisme et/ou dissection aortique)."},"de":{"name":"Bikuspide Aortenklappe, familiäre Form","synonyms":["Familiäre BAV"]},"es":{"name":"Válvula aórtica bicúspide familiar","definition":"La válvula aórtica bicúspide familiar es una malformación aórtica genética poco frecuente, definida por la presencia de una válvula aórtica anómala de dos valvas en al menos 2 familiares de primer grado. Con frecuencia es asintomática o puede estar asociada a una enfermedad progresiva de la válvula aórtica (insuficencia y/o estenosis aórtica, generalmente por calcificación valvular) y una aortopatía concomitante (es decir, dilatación aórtica, aneurisma y/o disección aórtica)."},"it":{"name":"Valvola aortica bicuspide familiare","definition":"La valvola aortica bicuspide familiare è una malformazione genetica rara dell'aorta, caratterizzata dalla presenza di una valvola aortica anomala con due foglietti, in almeno due consanguinei di primo grado. Spesso è asintomatica, ma può associarsi ad una malattia progressiva della valvola aortica (rigurgito e/o stenosi aortica, di solito dovuti alla calcificazione della valvola) e ad un'aortopatia concomitante (dilatazione, aneurisma e/o dissecazione dell'aorta)."},"nl":{"name":"Familiale bicuspide aortaklep","synonyms":["Familiale BAV"],"definition":"Familiale bicuspide aortaklep is een zeldzame, genetische aortamalformatie die gedefinieerd wordt als aanwezigheid van een abnormale tweeslippige aortaklep in minstens 2 eerstegraadsverwanten. Het is vaak asymptomatisch of kan geassocieerd zijn met progressieve aortaklepziekte (aortaregurgitatie en/of aortastenose, doorgaans door verkalking van de klep) en een samengaande aortopathie (i.e. aortadilatatie, aorta-aneurysma en/of aortadissectie)."},"pt":{"name":"Válvula aórtica bicúspida, forma familiar"},"pl":{"name":"Rodzinna dwupłatkowa zastawka aortalna","synonyms":["Familial BAV"],"definition":"*Rodzinna dwupłatkowa zastawka aortalna jest rzadką, genetycznie uwarunkowaną wadą aorty, która polega na obecności nieprawidłowej dwupłatkowej zastawki aortalnej u co najmniej 2 krewnych pierwszego stopnia. Często przebiega bezobjawowo lub może być związana z postępującą chorobą zastawki aortalnej (niedomykalność i/lub zwężenie aorty, zwykle z powodu zwapnienia zastawki) i towarzyszącą patologią aorty (tj. rozszerzenie aorty, tętniak i/lub rozwarstwienie aorty)."},"cs":{"name":"Familiární bikuspidální aortální chlopeň","synonyms":["Familial BAV"]},"uk":{"name":"Сімейний двостулковий аортальний клапан","synonyms":["Сімейний BAV"],"definition":"Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)."},"zh":{"name":"家族性二叶式主动脉瓣","synonyms":["家族性BAV"],"definition":"家族性二叶主动脉瓣是一种罕见的遗传性主动脉畸形，其定义为至少有2个一级亲属中存在异常的二叶主动脉瓣。它通常是无症状的或可能与进展性主动脉瓣膜疾病（主动脉瓣关闭不全和/或主动脉瓣狭窄，通常归因于瓣膜钙化）伴随主动脉病变（例如主动脉扩张，主动脉瘤和/或夹层）有关。"},"tr":{"name":"Ailesel biküspid aort kapağı","synonyms":["Ailesel BAV"]}},"xrefs":[{"source":"OMIM","code":"109730","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614823","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617912","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618496","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q23.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8A.22","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007194","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749284","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98718,"name":"Aortic malformation","classifications":[147,148,198]},{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]}],"children":[],"genes":[{"symbol":"GATA5","name":"GATA binding protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24638895[PMID]","hgnc":"15802","ensembl":"ENSG00000130700","omim":"611496","loci":["20q13.33"]},{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25438918[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"]},{"symbol":"NOTCH1","name":"notch receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16025100[PMID]","hgnc":"7881","ensembl":"ENSG00000148400","omim":"190198","loci":["9q34.3"]},{"symbol":"ROBO4","name":"roundabout guidance receptor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30455415[PMID]","hgnc":"17985","ensembl":"ENSG00000154133","omim":"607528","loci":["11q24.2"]},{"symbol":"SMAD6","name":"SMAD family member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22275001[PMID]","hgnc":"6772","ensembl":"ENSG00000137834","omim":"602931","loci":["15q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-07","source":"16025100[PMID]_22275001[PMID]_9631276[PMID]_16025100[PMID]","terms":[{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004380","label":"Aortic valve calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004962","label":"Thoracic aorta calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005113","label":"Dilatation of the aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011103","label":"Abnormal left ventricular outflow tract morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004933","label":"Ascending aortic dissection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very rare (<4-1%)","criteria":null}]}}