{"orpha":95463,"name":"Anomaly of the tricuspid subvalvular apparatus","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95463/","orphanet_url":"https://www.orpha.net/en/disease/detail/95463","names":{"fr":{"name":"Anomalie de l'appareil sous-valvulaire tricuspide","definition":"Groupe de malformations tricuspides congénitales rares, caractérisées par des anomalies des cordages tendineux et des muscles papillaires, telles que des cordages tendineux anormaux, un straddling de la valve (adhérence anormale des cordages tendineux aux deux ventricules) et une valve en parachute (adhérence unifocale des cordages tendineux à un seul muscle papillaire ou à une zone de fusion de ces muscles), entraînant une insuffisance valvulaire à type de régurgitation et/ou de sténose et un trouble du flux sanguin vers le ventricule droit, qui peut causer une insuffisance cardiaque. Dans la plupart des cas, d'autres anomalies cardiaques associées sont retrouvées."},"de":{"name":"Anomalie des subvalvulären Apparates der Trikuspidalklappe","definition":"Eine Gruppe seltener angeborener Fehlbildungen der Trikuspidalklappe, die durch Anomalien der Chordae tendineae und der Papillarmuskeln gekennzeichnet sind, einschließlich aberranter Chordae tendineae, der übergreifenden Klappe (abnorme Befestigung der Chordae tendineae an beiden Ventrikeln), und Fallschirmklappe (einseitige Befestigung der Chordae tendineae an einem einzigen oder verschmolzenen Papillarmuskel), was zu einer inkompetenten Klappe mit Regurgitation und/oder Stenose und einer Beeinträchtigung des rechtsventrikulären Zuflusses führt, was wiederum zu Herzversagen führen kann. In den meisten Fällen werden andere kardiale Anomalien in Verbindung mit dieser Störung gefunden."},"es":{"name":"Anomalía del aparato subvalvular tricúspide","definition":"Es un grupo de malformaciones tricuspídeas congénitas poco frecuentes caracterizado por anomalías de los cordones tendinosos y de los músculos papilares, incluyendo cordones tendinosos aberrantes, straddling de las válvulas (unión anómala de los cordones tendinosos a ambos ventrículos) y válvula en paracaídas (unifocalización de los cordones tendinosos a un solo músculo papilar o a uno fusionado), lo que da lugar a una válvula incompetente con insuficiencia y/o estenosis y a una alteración del flujo de entrada en el ventrículo derecho que puede derivar en insuficiencia cardíaca. En la mayoría de los casos, también se encuentran otras anomalías cardíacas asociadas."},"it":{"name":"Anomalia dell'apparato subvalvolare tricuspidale","definition":"Si tratta di un gruppo di malformazioni congenite rare della tricuspide, caratterizzate da anomalie delle corde tendinee e dei muscoli papillari, tra le quali le corde tendinee aberranti, la valvola ''a cavalcioni'' (attaccatura anomala delle corde tendinee ad entrambi i ventricoli), e la valvola a paracadute (attaccatura monofocale delle corde tendinee ad un muscolo papillare singolo o fuso), con conseguente incompetenza della valvola con rigurgito e/o stenosi e compromissione dell'afflusso ventricolare destro, che può esitare nell'insufficienza cardiaca. La maggior parte dei pazienti presenta anche altre cardiopatie."},"nl":{"name":"Anomalie van tricuspidalis-subvalvulair apparaat","definition":"Een groep van zeldzame congenitale malformaties van tricuspidalisklep, gekenmerkt door anomalieën van chordae tendineae en papillaire spieren, waaronder aberrante chordae tendineae, overrijdende ('straddling') klep (abnormale hechting van chordae tendineae aan beide ventrikels), en parachute-klep (unifocale hechting van chordae tendineae aan een enkele of gefuseerde papillaire spier), die resulteren in een incompetente klep met regurgitatie en/of stenose en verstoorde instroom in rechterventrikel, mogelijk met hartfalen tot gevolg. In de meeste gevallen wordt associatie van andere hartanomalieën aangetroffen."},"pt":{"name":"Anomalia do aparelho tricúspide subvalvular"},"pl":{"name":"Anomalie aparatu podzastawkowego zastawki trójdzielnej"},"cs":{"name":"Anomálie trikuspidálního subvalvulárního aparátu"},"uk":{"name":"Аномалії підклапанного апарату тристулкового клапану","definition":"A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association."},"zh":{"name":"三尖瓣下结构异常"},"tr":{"name":"Triküspit subvalvüler aparatın anomalisi"}},"xrefs":[{"source":"ICD-10","code":"Q22.8","qualifier":"E","icd_relation":"specific","validated":true},{"source":"UMLS","code":"C5681574","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":[{"orpha":99055,"name":"Congenital anomaly of the tricuspid valve chordae","type":"Morphological anomaly"},{"orpha":99056,"name":"Parachute tricuspid valve","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}