{"orpha":99058,"name":"Hypoplasia of the mitral valve annulus","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99058/","orphanet_url":"https://www.orpha.net/en/disease/detail/99058","names":{"fr":{"name":"Hypoplasie de l'anneau mitral","definition":"Malformation mitrale congénitale rare caractérisée par un anneau hypoplasique qui apparaît généralement dans le contexte d'une hypoplasie complète de la valve mitrale, provoquant une sténose de celle-ci. L'association avec d'autres malformations cardiaques est fréquente, notamment la coarctation de l'aorte, la sténose de la valve aortique, le complexe de Shone et le syndrome d'hypoplasie du coeur gauche."},"de":{"name":"Mitralklappenanulus, Hypoplasie des-"},"es":{"name":"Hipoplasia del anillo de la válvula mitral","definition":"Es una malformación congénita de la válvula mitral poco frecuente caracterizada por un anillo hipoplásico que, por lo general, aparece como parte de una hipoplasia completa de la válvula mitral, causando estenosis de la válvula mitral. Es frecuente la asociación con otras malformaciones cardíacas, tales como la coartación aórtica, la estenosis de la válvula aórtica, el complejo de Shone y el síndrome del corazón izquierdo hipoplásico."},"it":{"name":"Ipoplasia dell'anello della valvola mitrale","definition":"L'ipoplasia dell'anello della valvola mitrale è una malformazione congenita rara della valvola mitrale, caratterizzata dall'ipoplasia dell'anello, che di solito si manifesta nel quadro di una ipoplasia completa della valvola mitrale, con conseguente stenosi valvolare. Di solito si associa ad altre cardiopatie, come la coartazione dell'aorta, la stenosi della valvola aortica, il complesso di Shone e la sindrome del cuore sinistro ipoplastico."},"nl":{"name":"Hypoplasie van annulus van mitralisklep","definition":"Een zeldzame, congenitale malformatie van mitralisklep, gekarakteriseerd door een hypoplastische annulus die meestal voorkomt in de context van een volledige hypoplasie van de mitralisklep, en die leidt tot mitralisklepstenose. Vaak is er associatie met een andere hartmalformatie, waaronder coarctatie van de aorta, aortaklepstenose, Shone-complex en hypoplastisch linkerhartsyndroom."},"pt":{"name":"Hipoplasia do anel da válvula mitral"},"pl":{"name":"Hipoplazja pierścienia zastawki mitralnej","definition":"*Hipoplazja pierścienia zastawki mitralnej to rzadka, wrodzona wada rozwojowa zastawki mitralnej, która charakteryzuje się niedorozwojem pierścienia, który zwykle towarzyszy całkowitej hipoplazji zastawki mitralnej, powodując jej zwężenie. Często występuje z innymi wadami serca, takimi jak koarktacja aorty, zwężenie zastawki aortalnej, zespół Shone'a oraz zespół niedorozwoju lewego serca."},"cs":{"name":"Hypoplázie anulu mitrální chlopně"},"uk":{"name":"Гіпоплазія кільця мітрального клапана","definition":"A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome."},"zh":{"name":"二尖瓣环发育不全","definition":"该病是一种罕见的先天性二尖瓣畸形，特征是瓣环发育不良，通常出现在完全二尖瓣发育不全内，导致二尖瓣狭窄。合并其他心脏畸形很常见，包括主动脉缩窄、主动脉瓣狭窄、Shone复合体和左心发育不全综合征。"},"tr":{"name":"Mitral kapak halkasının hipoplazisi"}},"xrefs":[{"source":"ICD-10","code":"Q23.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"843702959"},{"source":"MONDO","code":"0020399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3165203","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95464,"name":"Congenital mitral valve insufficiency and/or stenosis","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}