{"orpha":101932,"name":"Anomaly of the mitral subvalvular apparatus","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short 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 left 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-101932/","orphanet_url":"https://www.orpha.net/en/disease/detail/101932","names":{"fr":{"name":"Anomalie de l'appareil mitral subvalvulaire","definition":"Groupe de malformations mitrales congénitales rares, caractérisées par des anomalies des cordages tendineux et des muscles papillaires, à savoir une anomalie de la valve mitrale « en arcade » ou « en hamac » (en raison de cordages tendineux extrêmement courts et épaissis), 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 gauche, 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 Mitralklappe","definition":"Eine Gruppe seltener angeborener Fehlbildungen der Mitralklappe, die durch Anomalien der Chordae tendineae und Papillarmuskeln gekennzeichnet sind. Dazu gehören die anomale Mitralarkade oder Hammock-Valve (aufgrund verdickter und extrem kurzer Chordae tendineae), die überreitende Klappe (abnorme Befestigung der Chordae tendineae an beiden Ventrikeln) und die Fallschirmklappe (einseitige Befestigung der Chordae tendineae an einem einzelnen oder verschmolzenen Papillarmuskel), was zu einer inkompetenten Klappe mit Regurgitation und/oder Stenose und beeinträchtigtem linksventrikulärem Einstrom führt, was möglicherweise zu Herzversagen führt. In den meisten Fällen werden andere kardiale Anomalien in Verbindung mit dieser Störung gefunden."},"es":{"name":"Anomalía del aparato subvalvular mitral","definition":"Es un grupo poco frecuente de malformaciones mitrales congénitas caracterizado por anomalías de los cordones tendinosos y de los músculos papilares. Comprende la arcada mitral o válvula en hamaca (debido al engrosamiento y acortamiento extremo de los cordones tendinosos), el straddling de la válvula (unión anómala de los cordones tendinosos a ambos ventrículos) y la válvula en paracaídas (unión unifocal de los cordones tendinosos a un músculo papilar único o fusionado), que resulta en incompetencia valvular con insuficiencia y/o estenosis y en una alteración del flujo de entrada al ventrículo izquierdo, que puede derivar en insuficiencia cardíaca. En la mayoría de los casos, también se encuentran otras anomalías cardíacas asociadas."},"it":{"name":"Anomalia dell'apparato sottovalvolare mitralico","definition":"Si tratta di un gruppo di malformazioni congenite rare della mitrale, caratterizzate da anomalie delle corde tendinee e dei muscoli papillari; comprendono l'arcata mitralica anomala o ''valvola ad amaca'' (in ragione delle corde tendinee ispessite e molto corte), la valvola ''a cavaliere'' (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 sinistro, che può esitare nell'insufficienza cardiaca. La maggior parte dei pazienti presenta anche altre cardiopatie."},"nl":{"name":"Anomalie van subvalvulair apparaat van mitralisklep","definition":"Een groep van zeldzame congenitale malformaties van mitralisklep, gekenmerkt door anomalieën van chordae tendineae en papillaire spieren. Deze zijn onder meer boogvormige vergroeiing van papillaire spieren en klepbladen mitralisklep, ook gekend als 'hammock valve' (door verdikte en extreem korte 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 linkerventrikel, mogelijk met hartfalen tot gevolg. In de meeste gevallen wordt associatie van andere hartanomalieën aangetroffen."},"pt":{"name":"Anomalia do aparelho mitral subvalvular"},"pl":{"name":"Anomalia mitralnego aparatu podzastawkowego"},"cs":{"name":"Anomálie mitrálního subvalvulárního aparátu"},"uk":{"name":"Аномалія мітрального підклапанного апарату","definition":"A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short 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 left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association."},"zh":{"name":"二尖瓣下瓣膜异常"},"tr":{"name":"Mitral subvalvüler aparat anomalisi"}},"xrefs":[{"source":"ICD-10","code":"Q23.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.13","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"498751490"},{"source":"MONDO","code":"0015109","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3164517","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19784","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}