{"orpha":3090,"name":"Congenital pulmonary venous return anomaly","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Congenital pulmonary venous connection anomaly"],"definition":"A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3090/","orphanet_url":"https://www.orpha.net/en/disease/detail/3090","names":{"fr":{"name":"Anomalie congénitale du retour veineux pulmonaire","definition":"Une anomalie rare du développement où une partie ou la totalité des veines pulmonaires s'écoulent dans l'oreillette droite ou les veines systémiques, avec ou sans présence d'obstruction veineuse pulmonaire. La pathologie conduit à diverses manifestations telles que de la fatigue, une dyspnée d'effort, l'hypertension artérielle pulmonaire, une cyanose et une insuffisance cardiaque congestive progressive. Les deux principaux sous-types sont les anomalies congénitales du retour veineux pulmonaire partiel (PAPVC), où une ou quelques veines pulmonaires sont anormales, et l'anomalie congénitale totale du retour veineux pulmonaire (TAPVC), où toutes les veines pulmonaires sont anormales."},"de":{"name":"Lungenvenenfehlmündung, kongenitale"},"es":{"name":"Retorno venoso pulmonar anómalo congénito","definition":"Es una malformación cardíaca en la que algunas o todas las venas pulmonares drenan en la aurícula derecha o en las venas sistémicas, con o sin la presencia de obstrucción venosa pulmonar, lo que conduce a diversas manifestaciones tales como fatiga, disnea de esfuerzo, hipertensión arterial pulmonar, cianosis e insuficiencia cardíaca progresiva. Los dos subtipos principales son: drenaje venoso pulmonar anómalo parcial del retorno venoso pulmonar (DAVPP), en la que una o algunas de las venas pulmonares son anómalas, y el total (DAVPT), en la que todas las venas pulmonares están afectadas."},"it":{"name":"Ritorno venoso polmonare anomalo congenito","synonyms":["Connessione venosa polmonare anomala, tipo congenito"],"definition":"Il ritorno venoso polmonare anomalo congenito è una cardiopatia nella quale alcune o tutte le vene polmonari affluiscono all'atrio destro o alle vene sistemiche, con o senza occlusione venosa polmonare. I segni clinici comprendono l'affaticamento, la dispnea da sforzo, l'ipertensione arteriosa polmonare, la cianosi e l'insufficienza cardiaca congestizia progressiva. I due principali sottotipi della malattia sono il ritorno venoso polmonare anomalo parziale congenito (PAPVC; si veda questo termine), in cui una o più vene polmonari presentano anomalie, e il ritorno venoso polmonare anomalo totale congenito (TAPVC; si veda questo termine), nel quale tutte le vene polmonari presentano anomalie."},"nl":{"name":"Congenitale pulmonale veneuze terugstroomanomalie","synonyms":["Congenitale pulmonale veneuze verbindingsanomalie"],"definition":"Congenitale pulmonale veneuze terugstroomanomalie is een hartmalformatie waarbij sommige of alle pulmonale aders uitmonden in het rechteratrium of de systemische aders, met of zonder de aanwezigheid van pulmonale veneuze obstructie, wat leidt tot verscheidene manifestaties zoals vermoeidheid, inspanningsdyspneu, pulmonale arteriële hypertensie, cyanose en progressief congestief hartfalen. De twee voornaamste subtypes zijn congenitale partiële pulmonale veneuze terugstroomanomalie (PAPVC; zie deze term), waar één of enkele van de pulmonale aders abnormaal zijn, en congenitale volledige pulmonale veneuze terugstroomanomalie (TAPVC; zie deze term), waarbij alle pulmonale aders abnormaal zijn."},"pt":{"name":"Retorno venoso pulmonar anómalo congénito"},"pl":{"name":"Wrodzony nieprawidłowy spływ żyły płucnej","synonyms":["Wrodzona wada połączenia żyły płucnej"]},"cs":{"name":"Vrozená anomálie návratu plicních žil","synonyms":["Vrozená anomálie spojení plicních žil"]},"uk":{"name":"Вроджена аномалія легеневого венозного повернення","synonyms":["Вроджена аномалія легеневого венозного сполучення"],"definition":"A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous."},"zh":{"name":"先天性肺静脉回流异常","synonyms":["先天性肺静脉连接异常"]},"tr":{"name":"Doğumsal pulmoner venöz dönüş anomalisi","synonyms":["Doğumsal pulmoner venöz bağlantı anomalisi"]}},"xrefs":[{"source":"MONDO","code":"0017705","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265916","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4599","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058079","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98729,"name":"Congenital pulmonary veins anomaly","classifications":[147,148,198]}],"children":[{"orpha":99124,"name":"Congenital partial pulmonary venous return anomaly","type":"Morphological anomaly"},{"orpha":99125,"name":"Congenital total pulmonary venous return anomaly","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}