{"orpha":95457,"name":"Tricuspid valve agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital unguarded tricuspid orifice"],"definition":"A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95457/","orphanet_url":"https://www.orpha.net/en/disease/detail/95457","names":{"fr":{"name":"Agénésie des valves tricuspides","definition":"Malformation cardiaque congénitale non syndromique rare, caractérisée par l'absence partielle ou complète du tissu de la valve tricuspide et de son appareil, l'orifice étant présent. Elle peut être isolée ou associée à d'autres anomalies cardiaques. La présentation clinique est variable et peut inclure une syncope, des arythmies, une cyanose, une dilatation et une insuffisance cardiaque droite."},"de":{"name":"Trikuspidalklappen-Agenesie","synonyms":["Trikusipdalatresie, kongenitale"],"definition":"Eine seltene, angeborene, nicht-syndromale Herzfehlbildung, die durch ein teilweises oder vollständiges Fehlen des Trikuspidalklappengewebes und -apparates mit einer vorhandenen Öffnung gekennzeichnet ist. Sie kann isoliert auftreten oder mit anderen kardialen Anomalien verbunden sein. Das klinische Bild ist variabel und kann Synkopen, Herzrhythmusstörungen, Zyanose sowie Dilatation und Versagen des rechten Herzens umfassen."},"es":{"name":"Agenesia de la válvula tricúspide","synonyms":["Orificio tricúspide descubierto congénito"],"definition":"Es una malformación cardíaca congénita no sindrómica y poco frecuente caracterizada por la ausencia parcial o total de tejido valvular tricuspídeo y su aparato con presencia de un orificio. La malformación puede presentarse de forma aislada o asociada a otras anomalías cardíacas adicionales. La presentación clínica es variable y puede incluir síncope, arritmias, cianosis, dilatación e insuficiencia cardíaca derecha."},"it":{"name":"Agenesia della valvola tricuspide","synonyms":["Orifizio tricuspidale pervio congenito"],"definition":"È una cardiopatia congenita rara non sindromica, caratterizzata dall'aplasia parziale o completa del tessuto della valvola tricuspide e del suo apparato, con presenza di un orifizio. Può essere isolata o associarsi ad altre cardiopatie. Il quadro clinico è variabile, e comprende la sincope, le aritmie, la cianosi, la dilatazione e l'insufficienza della parte destra del cuore."},"nl":{"name":"Tricuspidalisklepagenesie","synonyms":["Congenitale onbewaakte tricuspidalisklepopening"],"definition":"Een zeldzame, congenitale, niet-syndromale hartmalformatie gekarakteriseerd door gedeeltelijke of volledige afwezigheid van het weefsel en het apparaat van de tricuspidalisklep, met een bestaande opening. Het kan geïsoleerd voorkomen of geassocieerd zijn met andere hartanomalieën. Het klinisch beeld is variabel en omvat mogelijk syncope, hartritmestoornissen, cyanose, en dilatatie en falen van het rechterhart."},"pt":{"name":"Agenesia da válvula tricúspide"},"pl":{"name":"Agnezja zastawki trójdzielnej","synonyms":["Wrodzony brak zastawki trójdzielnej"]},"cs":{"name":"Ageneze trikuspidální chlopně","synonyms":["Congenital unguarded tricuspid orifice"]},"uk":{"name":"Агенезія тристулкового клапана","synonyms":["Вроджений незахищений тристулковий отвір"],"definition":"A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure."},"zh":{"name":"三尖瓣发育不全","synonyms":["先天性三尖瓣无挡畸形"],"definition":"一种罕见的先天性非综合征性心脏畸形，特征是部三尖瓣分或完全缺失，留下一个孔。它可以孤立存在的或伴其他心脏异常。临床表现是多变的，可能出现晕厥、心律失常、紫绀、右心扩张和衰竭。"},"tr":{"name":"Triküspit kapak agenezisi","synonyms":["Doğumsal korumasız triküspit orifis"]}},"xrefs":[{"source":"ICD-10","code":"Q22.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0685715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98721,"name":"Congenital tricuspid malformation","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}