{"orpha":1205,"name":"Mitral atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1205/","orphanet_url":"https://www.orpha.net/en/disease/detail/1205","names":{"fr":{"name":"Atrésie mitrale","definition":"Malformation cardiaque congénitale non syndromique rare, caractérisée par une valve mitrale qui reste fermée ou absente. Dans la plupart des cas, il existe une connexion atrio-ventriculaire univentriculaire à un ventricule droit dominant via une valve tricuspide, et un ventricule gauche hypoplasique. L'hétérogénéité morphologique est considérable, et le tableau hémodynamique et les signes cliniques dépendent du type et de la gravité des anomalies cardiovasculaires associées (telles que la communication interventriculaire ou l'atrésie de l'aorte)."},"de":{"name":"Mitralatresie","definition":"Eine seltene angeborene, nicht-syndromale Fehlbildung des Herzens, die durch eine imperforierte oder fehlende Mitralklappe gekennzeichnet ist. In den meisten Fällen besteht eine univentrikuläre atrioventrikuläre Verbindung zu einem dominanten rechten Ventrikel über eine Trikuspidalklappe und ein hypoplastischer linker Ventrikel. Die morphologische Heterogenität ist beträchtlich, und das hämodynamische Bild und die klinische Manifestation hängen von der Art und dem Schweregrad der damit verbundenen kardiovaskulären Anomalien ab (z. B. Ventrikelseptumdefekt oder Atresie der Aorta)."},"es":{"name":"Atresia mitral","definition":"Es una malformación cardíaca congénita no sindrómica poco frecuente caracterizada por una válvula mitral imperforada o ausente. En la mayoría de los casos, existe una conexión auriculoventricular univentricular, con un ventrículo derecho dominante a través de una válvula tricúspide y un ventrículo izquierdo hipoplásico. La heterogeneidad morfológica es considerable, y el cuadro hemodinámico y las manifestaciones clínicas dependen del tipo y la gravedad de las anomalías cardiovasculares asociadas (como la comunicación interventricular o la atresia aórtica)."},"it":{"name":"Atresia della mitrale","definition":"Si tratta di una cardiopatia congenita rara non sindromica, caratterizzata dall'agenesia o dalla imperforazione della valvola mitrale. Nella maggior parte dei pazienti, è presente una connessione atrioventricolare monoventricolare a un ventricolo destro dominante attraverso una valvola tricuspide, e un ventricolo sinistro ipoplasico. Si osserva una significativa eterogeneità morfologica; il quadro emodinamico e i segni clinici dipendono dal tipo e dalla gravità delle cardiopatie associate (ad es. difetto del setto interventricolare e atresia dell'aorta)."},"nl":{"name":"Atresie van mitralisklep","definition":"Een zeldzame congenitale niet-syndromale hartmalformatie, gekenmerkt door een niet-doorgankelijke of afwezige mitralisklep. In de meeste gevallen is er een univentriculaire atrioventriculaire verbinding met een dominant rechterventrikel via een tricuspidalisklep, en een hypoplastisch linkerventrikel. De morfologische heterogeniteit is aanzienlijk, en hemodynamisch beeld en klinische manifestatie zijn afhankelijk van type en ernst van geassocieerde cardiovasculaire anomalieën (zoals ventrikelseptumdefect of atresie van aorta)."},"pt":{"name":"Atresia mitral"},"pl":{"name":"Atrezja zastawki mitralnej"},"cs":{"name":"Atrézie mitrální chlopně"},"uk":{"name":"Мітральна атрезія","definition":"A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia)."},"zh":{"name":"二尖瓣闭锁"},"tr":{"name":"Mitral atrezi"}},"xrefs":[{"source":"ICD-10","code":"Q23.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA89.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"6462604"},{"source":"MONDO","code":"0015249","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344760","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3685","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066800","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}