{"orpha":555874,"name":"Congenital tricuspid valve dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-555874/","orphanet_url":"https://www.orpha.net/en/disease/detail/555874","names":{"fr":{"name":"Dysplasie congénitale de la valve tricuspide","definition":"Malformation tricuspide congénitale rare caractérisée par un épaississement du tissu des feuillets en raison des dépôts irréguliers du tissu conjonctif myxoïde dans une valve tricuspide normalement délaminée, en l'absence de déplacement des feuillets septaux et sans que le ventricule droit soit dit « atrialisé ». Les cordages tendineux peuvent être courts ou absents. La valve affectée présente une sténose et/ou insuffisance. Sur le plan clinique, la plupart des patients sont asymptomatiques et diagnostiqués dans le cadre de l'évaluation d'un souffle."},"de":{"name":"Trikuspidalklappendysplasie, kongenitale","definition":"Eine seltene angeborene Fehlbildung der Trikuspidalklappe, die durch eine unregelmäßige Verdickung des Klappensegels durch myxoides Bindegewebe in einer normalerweise delaminierten Trikuspidalklappe ohne septale Verschiebung des Klappensegels und ohne Atrialisierung des rechten Ventrikels gekennzeichnet ist. Die Chordae tendineae können kurz sein oder fehlen. Die betroffene Klappe ist stenosiert und/oder inkompetent. Klinisch sind die meisten Patienten asymptomatisch und werden im Rahmen der Beurteilung von Herzgeräuschen diagnostiziert."},"es":{"name":"Displasia congénita de la válvula tricúspide","definition":"Es una malformación tricuspídea congénita poco frecuente caracterizada por un engrosamiento irregular de los velos por tejido conectivo mixoide en una válvula tricuspídea normalmente delaminada, sin desplazamiento de las valvas septales, y sin un ventrículo derecho atrializado. Los cordones tendinosos pueden estar acortados o ausentes. La válvula afectada es estenótica y/o incompetente. Clínicamente, la mayoría de los pacientes permanecen asintomáticos y son diagnosticados en el contexto de la evaluación de un soplo."},"it":{"name":"Displasia congenita della valvola tricuspide","definition":"Si tratta di una malformazione congenita rara della tricuspide, caratterizzata da un ispessimento irregolare del tessuto del lembo causato, dalla presenza di tessuto connettivo mixoide nella valvola tricuspide normalmente delaminata, senza spostamento del lembo del setto, e senza che il ventricolo destro sia atrializzato. Può associarsi all'accorciamento o all'agenesia delle corde tendinee. La valvola interessata è stenotica e/o incompetente. Dal punto di vista clinico, la maggior parte dei pazienti è asintomatica e l'anomalia viene diagnosticata durante la valutazione di un soffio."},"nl":{"name":"Congenitale dysplasie van tricuspidalisklep","definition":"Een zeldzame congenitale malformatie van tricuspidalisklep, gekarakteriseerd door onregelmatige verdikking van weefsel van klepbladen door myxoïd bindweefsel in een tricuspidalisklep met normale delaminatie, zonder dislocatie van het septale klepblad, en zonder atrialisatie van rechterventrikel. Chordae tendineae kunne kort of afwezig zijn. De aangetaste klep is stenotisch en/of insufficiënt. De meeste patiënten zijn klinisch asymptomatisch, en worden gediagnosticeerd in de context van een onderzoek van hartgeruis."},"pt":{"name":"Displasia congénita da válvula tricúspida"},"pl":{"name":"Wrodzona dysplazja zastawki trójdzielnej"},"cs":{"name":"Vrozená dysplázie trikuspidální/trojcípé chlopně"},"uk":{"name":"Вроджена дисплазія тристулкового клапана","definition":"A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur."},"zh":{"name":"先天性三尖瓣发育不良"},"tr":{"name":"Doğumsal triküspit kapak displazisi"}},"xrefs":[{"source":"ICD-10","code":"Q22.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1468235714"},{"source":"MONDO","code":"0035314","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4255215","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":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-09","source":"16273410[PMID]_33076749[PMID]_9007786[PMID]","terms":[{"hpo":"HP:0031441","label":"Abnormal tricuspid valve annulus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031443","label":"Abnormal tricuspid valve leaflet morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Occasional (29-5%)","criteria":null}]}}