{"orpha":1209,"name":"Tricuspid atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1209/","orphanet_url":"https://www.orpha.net/en/disease/detail/1209","names":{"fr":{"name":"Atrésie tricuspide","definition":"Malformation cardiaque congénitale rare caractérisée par l'absence de l'anneau valvulaire tricuspide (absence de connexion/jonction auriculo-ventriculaire droite) ou par une valve tricuspide non perforée entraînant une hypoplasie sévère du ventricule droit (coeur fonctionnellement univentriculaire). La malformation est associée à des grandes artères normalement reliées (70 à 80 % des cas) ou à une transposition des grands vaisseaux, à une communication interauriculaire obligatoire et cruciale pour la survie (foramen ovale perméable ou communication interauriculaire de type ostium secundum), à une communication interventriculaire (CIV), à une obstruction de l'écoulement pulmonaire (atrésie, sténose ou hypoplasie pulmonaire), à une coarctation de l'aorte et/ou à une interruption de l'arc aortique."},"de":{"name":"Trikuspidalatresie","definition":"Eine seltene angeborene Fehlbildung des Herzens, die durch das Fehlen des Trikuspidalanulus (fehlende rechtsatrioventrikuläre Verbindung/Verbindung) oder eine unperforierte Trikuspidalklappe gekennzeichnet ist und zu einer schweren Hypoplasie des rechten Ventrikels führt (funktionell univentrikuläres Herz). Die Fehlbildung geht einher mit normal verknüpften großen Arterien (70 bis 80 % der Fälle) oder transponierten großen Gefäßen, einer obligatorischen interatrialen Verbindung, die für das Überleben entscheidend ist (offenes Foramen ovale oder Vorhofseptumdefekt vom Typ Ostium secundum), einem Ventrikelseptumdefekt (VSD), einer Obstruktion des pulmonalen Abflusses (Atresie, Stenose oder Hypoplasie der Lunge), einer Aortenkoarktation und/oder einer Unterbrechung des Aortenbogens."},"es":{"name":"Atresia tricuspídea","definition":"Es una malformación cardíaca congénita poco frecuente caracterizada por la ausencia de anillo valvular tricúspide (ausencia de conexión/unión auriculoventricular derecha) o por una válvula tricúspide imperforada que deriva en una grave hipoplasia del ventrículo derecho (corazón funcionalmente univentricular). La malformación se asocia a grandes vasos normalmente conectados (70 a 80% de los casos) o bien a grandes vasos transpuestos, un cortocircuito obligado interauricular que es crucial para la supervivencia (foramen oval permeable o comunicación interauricular, tipo ostium secundum), una comunicación interventricular (CIV), una obstrucción del flujo pulmonar (atresia, estenosis o hipoplasia pulmonar), una coartación aórtica y/o interrupción del arco aórtico."},"it":{"name":"Atresia della tricuspide","definition":"Si tratta di una cardiopatia congenita rara, caratterizzata dall'agenesia dell'anello della valvola tricuspide (assenza della connessione/giunzione atrioventricolare destra) o dalla mancata perforazione della valvola tricuspide che esita in una grave ipoplasia del ventricolo destro (cuore monoventricolare dal punto di vista funzionale). La malformazione si associa al normale posizionamento delle grandi arterie (70-80% dei casi) o alla loro trasposizione, ad una obbligata connessione interatriale, necessaria per la sopravvivenza (forame ovale pervio o difetto del setto interatriale tipo ostium secundum), ad un difetto del setto interventricolare (VSD), a un'ostruzione del tratto di efflusso polmonare (atresia polmonare, stenosi o ipoplasia), alla coartazione dell'aorta e/o all'interruzione dell'arco aortico."},"nl":{"name":"Tricuspidalisatresie","definition":"Een zeldzame congenitale malformatie van hart, gekenmerkt door afwezigheid van annulus van tricuspidalisklep (afwezige rechter atrioventriculaire verbinding/junctie) of een niet-doorgankelijke tricuspidalisklep met ernstige hypoplasie van rechterventrikel (functioneel univentriculair hart) tot gevolg. De malformatie is geassocieerd met normaal gelegen grote arteriën (70 tot 80% van de gevallen) of getransponeerde grote bloedvaten, een obligate interatriale verbinding die cruciaal is voor overleving (persisterend foramen ovale of atriumseptumdefect, ostium secundum-type), ventrikelseptumdefect (VSD), pulmonale uitstroomobstructie (atresie, stenose of hypoplasie van pulmonalisklep), aortacoarctatie en/of onderbreking van aortaboog."},"pt":{"name":"Atresia tricúspide"},"pl":{"name":"Atrezja zastawki trójdzielnej"},"cs":{"name":"Trikuspidální atrézie"},"uk":{"name":"Трикуспідальна атрезія","definition":"A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption."},"zh":{"name":"三尖瓣闭锁"},"tr":{"name":"Triküspit atrezi"}},"xrefs":[{"source":"OMIM","code":"605067","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q22.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA89.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"845891723"},{"source":"MONDO","code":"0011514","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018785","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0243002","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5274","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049767","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":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.5625,"area":"Europe","status":"Validated","source":"31270117[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"France","status":"Validated","source":"31270117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Germany","status":"Validated","source":"31270117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.5,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Italy","status":"Validated","source":"31270117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Netherlands","status":"Validated","source":"31270117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.1,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"United Kingdom","status":"Validated","source":"31270117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.7,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.6,"area":"Taiwan, Province of China","status":"Validated","source":"20138303[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Malta","status":"Validated","source":"31270117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Czech Republic","status":"Validated","source":"31270117[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Slovakia","status":"Validated","source":"31270117[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-29","source":"10227411[PMID]_1689815[PMID]_10888889[PMID]","terms":[{"hpo":"HP:0011662","label":"Tricuspid atresia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004762","label":"Hypoplasia of right ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null}]}}