{"orpha":95474,"name":"Double-orifice mitral valve","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95474/","orphanet_url":"https://www.orpha.net/en/disease/detail/95474","names":{"fr":{"name":"Double orifice de la valve mitrale","definition":"Malformation cardiaque congénitale non syndromique rare caractérisée par un anneau fibreux unique comportant deux orifices s'ouvrant dans le ventricule gauche. La présentation clinique varie selon le degré d'insuffisance et/ou de sténose mitrale qui en résulte et de la cardiopathie associée, le plus souvent une communication interauriculaire, des lésions obstructives du côté gauche et une cardiopathie cyanogène. De rares cas de forme isolée de la maladie ont été rapportés."},"de":{"name":"Double-orifice-Mitralklappe","definition":"Eine seltene, angeborene, nicht-syndromale Herzfehlbildung, die durch einen einzelnen fibrösen Gewebering mit zwei Öffnungen in der linken Herzkammer gekennzeichnet ist. Das klinische Bild ist variabel und hängt vom Ausmaß der resultierenden Mitralregurgitation und/oder -stenose sowie von der damit verbundenen Herzerkrankung ab, typischerweise einem atrioventrikulären Septumdefekt, obstruktiven Läsionen auf der linken Seite und einer zyanotischen Herzerkrankung. Seltene Fälle von isolierter Krankheit wurden gemeldet."},"es":{"name":"Doble orificio valvular mitral","definition":"Es una malformación cardíaca congénita no sindrómica y poco frecuente caracterizada por la presencia de un anillo fibroso único con dos orificios de apertura en el ventrículo izquierdo. La presentación clínica es variable y está relacionada con el grado de insuficiencia mitral y/o estenosis resultantes, dependiendo también de la cardiopatía asociada, siendo las más frecuentes la comunicación auriculoventricular, las lesiones obstructivas del lado izquierdo y las cardiopatías cianóticas. Se han descrito casos poco frecuentes de enfermedad aislada."},"it":{"name":"Valvola mitrale con doppio orifizio","definition":"È una cardiopatia congenita rara non sindromica, caratterizzata dalla presenza di un singolo anello fibroso dotato di due orifizi che si aprono verso il ventricolo sinistro. Il quadro clinico è variabile e dipende dal grado dell'insufficienza mitralica e/o della stenosi e dalla cardiopatia associata (di solito difetto del setto atrioventricolare, lesioni ostruttive del lato sinistro e cardiopatia cianotica)."},"nl":{"name":"Dubbel ostium van mitralisklep","synonyms":["Dubbel orificium van mitralisklep"],"definition":"Een zeldzame, congenitale, niet-syndromale hartmalformatie gekarakteriseerd door één enkele fibreuze weefselring met twee openingen die uitkomen in het linkerventrikel. Het klinisch beeld is variabel en gerelateerd aan de mate van resulterende mitralisklepinsufficiëntie en/of -stenose, en afhankelijk van de geassocieerde hartziekte, doorgaans atrioventriculair septumdefect, obstructieve laesies aan de linkerzijde, en cyanotische hartziekte. Er werden zeldzame gevallen met geïsoleerde ziekte gerapporteerd."},"pt":{"name":"Duplo orifício da válvula mitral"},"pl":{"name":"Dwuujściowa zastawka mitralna"},"cs":{"name":"Dvojité ústí mitrální chlopně"},"uk":{"name":"Двуотворний мітральний клапан мітральний клапан","definition":"A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported."},"zh":{"name":"双孔二尖瓣","definition":"一种罕见的先天性非综合征性心脏畸形，其特征是单个纤维环有两个通向左心室的开口。该病临床表现多变，与其所致的二尖瓣关闭不全和/或狭窄的程度有关，并取决于其合并的心脏疾病，最常见的合并症为房室间隔缺损、左侧梗阻性病变和紫绀性心脏病。该病孤立性存在的病例比较罕见，既往也有报道。"},"tr":{"name":"Çift delikli mitral kapak"}},"xrefs":[{"source":"ICD-10","code":"Q23.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1045118968"},{"source":"MONDO","code":"0019819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344770","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95465,"name":"Cleft mitral valve","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}