{"orpha":99059,"name":"Congenital supravalvular mitral ring","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99059/","orphanet_url":"https://www.orpha.net/en/disease/detail/99059","names":{"fr":{"name":"Anneau supravalvulaire mitral","definition":"Malformation mitrale congénitale rare caractérisée par une crête anormale du tissu conjonctif du côté auriculaire de la valve mitrale, qui peut se manifester sur le plan clinique par des signes et des symptômes d'obstruction de l'efflux du ventricule gauche (dyspnée, tachypnée, hypertension pulmonaire, hypertrophie du ventricule droit, oedème pulmonaire). Une association avec d'autres anomalies de la valve mitrale, une sténose aortique, une communication interventriculaire, une persistance du canal artériel, un ventricule droit à double sortie, une hypertension pulmonaire et un complexe de Shone a été rapportée."},"de":{"name":"Supravalvulärer Mitralring, kongenitaler"},"es":{"name":"Anillo supravalvular mitral congénito","definition":"El anillo supravalvular mitral congénito es una malformación congénita poco frecuente de la válvula mitral caracterizada por una cresta anómala de tejido conectivo en la cara auricular de la válvula mitral, que clínicamente puede presentar signos y síntomas de obstrucción del flujo del ventrículo izquierdo (disnea, taquipnea, hipertensión pulmonar, hipertrofia del ventrículo derecho, edema pulmonar). Se ha descrito asociación a otras anomalías de la válvula mitral, estenosis aórtica, comunicación interventricular, conducto arterioso persistente, doble salida del ventrículo derecho, hipertensión pulmonar y complejo de Shone."},"it":{"name":"Anello mitrale sopravalvolare congenito","definition":"L'anello mitrale sopravalvolare congenito è una malformazione congenita rara della valvola mitrale, caratterizzata dalla presenza una cresta anomala di tessuto connettivo sul lato atriale della valvola. Dal punto di vista clinico, esordisce con i sintomi caratteristici dell'ostruzione dell'afflusso del sangue al ventricolo sinistro (dispnea, tachipnea, ipertensione polmonare, ipertrofia del ventricolo destro, edema polmonare). Può associarsi ad altre anomalie della valvola mitrale, alla stesosi dell'aorta, a difetti del setto interventricolare, alla pervietà del dotto arterioso, al ventricolo destro a doppia uscita, all'ipertensione polmonare e al complesso di Shone."},"nl":{"name":"Congenitale supravalvulaire mitralisring","definition":"Congenitale supravalvulaire mitralisring is een zeldzame, congenitale malformatie van de mitralisklep die wordt gekarakteriseerd door een abnormale rand van bindweefsel aan de atriale zijde van de mitralisklep, en die klinisch tot uiting kan komen met tekenen en symptomen van obstructie van de instroom in het linkerventrikel (dyspneu, tachypnoe, pulmonale hypertensie, hypertrofie van het rechterventrikel, longoedeem). Associatie met andere anomalieën van de mitralisklep, aortastenose, ventrikelseptumdefect, persisterende ductus arteriosus, dubbele uitstroom rechterventrikel, pulmonale hypertensie en Shonecomplex werd reeds gerapporteerd."},"pt":{"name":"Anel mitral supravalvular congénito"},"pl":{"name":"Wrodzony podzastawkowy pierścień zastawki mitralnej"},"cs":{"name":"Vrozený supravalvulární mitrální prstenec"},"uk":{"name":"Вроджене надклапанне мітральне кільце","definition":"Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported."},"zh":{"name":"先天性二尖瓣瓣上环","definition":"先天性二尖瓣环是一种罕见的先天性二尖瓣畸形，其特征是二尖瓣心房侧结缔组织异常隆起，临床表现为左心室流入道梗阻(呼吸困难、呼吸急促、肺动脉高压、右心室肥大、肺水肿)的体征和症状。与其他二尖瓣畸形、主动脉瓣狭窄、室间隔缺损、动脉导管未闭、右心室双出口、肺动脉高压和Shone复合体相关。"},"tr":{"name":"Doğumsal supravalvüler mitral halka"}},"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":"308712619"},{"source":"MONDO","code":"0020400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265851","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}