{"orpha":99125,"name":"Congenital total pulmonary venous return anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99125/","orphanet_url":"https://www.orpha.net/en/disease/detail/99125","names":{"fr":{"name":"Anomalie congénitale totale du retour veineux pulmonaire","definition":"Forme de retour veineux pulmonaire congénital dans laquelle toutes les veines pulmonaires s'écoulent dans l'oreillette droite ou l'un de ses affluents, au lieu de se diriger vers l'oreillette gauche, entraînant diverses manifestations, à savoir fatigue, dyspnée d'effort, hypertension artérielle pulmonaire, cyanose et insuffisance cardiaque congestive progressive."},"de":{"name":"Lungenvenenfehlmündung, kongenitale totale","definition":"Eine Form des angeborenen pulmonalvenösen Rückflusses, bei dem alle Lungenvenen in den rechten Vorhof oder einen seiner zuführenden Gefäße statt in den linken Vorhof münden, was zu verschiedenen Symptomen wie Müdigkeit, Atemnot bei Anstrengung, pulmonaler arterieller Hypertonie, Zyanose und fortschreitender Herzinsuffizienz führt."},"es":{"name":"Anomalía congénita del retorno venoso pulmonar total","definition":"Es un tipo de retorno venoso pulmonar congénito en el que las venas pulmonares drenan en la aurícula derecha o uno de sus afluentes, en lugar de en la aurícula izquierda, lo que conlleva diversas manifestaciones tales como cansancio, disnea de esfuerzo, hipertensión pulmonar arterial, cianosis e insuficiencia cardíaca congestiva progresiva."},"it":{"name":"Ritorno venoso anomalo polmonare o totale congenito","definition":"Il ritorno venoso anomalo polmonare totale (TAPVR) è una forma di ritorno venoso polmonare congenito (si veda questo termine), nella quale tutte le vene polmonari affluiscono all'atrio destro o ad uno dei suoi affluenti, invece che all'atrio sinistro, causando una serie di segni clinici che comprendono l'affaticamento, la dispnea da sforzo, l'ipertensione arteriosa polmonare, la cianosi e l'insufficienza cardiaca congestizia progressiva."},"nl":{"name":"Congenitale totale pulmonale veneuze terugstroomanomalie","definition":"Een vorm van congenitale pulmonale veneuze terugstroomanomalie waarbij alle pulmonale aders uitmonden in rechteratrium of een tak ervan in plaats van linkeratrium, wat leidt tot verschillende manifestaties zoals vermoeidheid, inspanningsdyspneu, pulmonale arteriële hypertensie, cyanose en progressief congestief hartfalen."},"pt":{"name":"Anomalia do retorno venoso pulmonar congénita total"},"pl":{"name":"Wrodzony całkowity nieprawidłowy powrót żył płucnych","definition":"Postać wrodzonego płucnego powrotu żylnego, w której wszystkie żyły płucne uchodzą do prawego przedsionka lub jednego z jego dopływów zamiast do lewego przedsionka, co wiąże się z występowaniem różnych objawów, takich jak zmęczenie, duszność wysiłkowa, nadciśnienie płucne, sinica i postępująca zastoinowa niewydolność serca."},"cs":{"name":"Vrozený úplný anomální návrat plicních žil"},"uk":{"name":"Тотальний аномальний дренаж легеневих вен","definition":"A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure."},"zh":{"name":"先天性完全肺静脉回流异常","definition":"全肺静脉回流(TAPVR)是先天性肺静脉回流的一种形式，所有肺静脉回流到右心房或其他分支而不是流入左心房，导致疲劳、劳力性呼吸困难、肺动脉高压、紫癜和进行性充血性心力衰竭等各种表现。"},"tr":{"name":"Doğumsal total pulmoner venöz dönüş anomalisi"}},"xrefs":[{"source":"OMIM","code":"106700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q26.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA86.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1532925990"},{"source":"MONDO","code":"0007130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551903","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3090,"name":"Congenital pulmonary venous return anomaly","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"United States","status":"Validated","source":"18657826[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Worldwide","status":"Validated","source":"12084585[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.0,"area":"Worldwide","status":"Validated","source":"12084585[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"United States","status":"Validated","source":"18657826[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-28","source":"29796693[PMID]_20392458[PMID]_23641468[PMID]_30841831[PMID]_5097138[PMID]_14426379[PMID]","terms":[{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011539","label":"Atrial situs ambiguous","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012763","label":"Paroxysmal dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011719","label":"Supracardiac total anomalous pulmonary venous connection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005949","label":"Apneic episodes in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011720","label":"Cardiac total anomalous pulmonary venous connection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030853","label":"Heterotaxy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005253","label":"Increased anterioposterior diameter of thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011721","label":"Infracardiac total anomalous pulmonary venous connection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030918","label":"Low 1-minute APGAR score","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030919","label":"Low 5-minute APGAR score","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009805","label":"Low-output congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011722","label":"Mixed total anomalous pulmonary venous connection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001750","label":"Single ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011560","label":"Mitral atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Very rare (<4-1%)","criteria":null}]}}