{"orpha":982,"name":"Pulmonary valve agenesis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Absent pulmonary valve syndrome","Congenital absence of the pulmonary valve","PVA"],"definition":"Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-982/","orphanet_url":"https://www.orpha.net/en/disease/detail/982","names":{"fr":{"name":"Agénésie des valves pulmonaires","synonyms":["AVP","Absence congénitale des valves pulmonaires"],"definition":"L'agénésie des valves pulmonaires est une malformation cardiaque congénitale rare caractérisée par l'absence partielle ou totale des feuillets de la valve pulmonaire, associée à une sténose de l'orifice de l'artère pulmonaire et une dilatation anévrismale des artères pulmonaires. Elle est habituellement associée à des malformations cardiovasculaires additionnelles telles que la tétralogie de Fallot ou une anomalie du canal atrioventriculaire. Elle peut aussi faire partie d'un syndrome (ex. syndrome de délétion 22q11.2). Les signes cliniques dépendent de la présence de malformations cardiaques associées et incluent une insuffisance pulmonaire, une obstruction bronchique (secondaire à la compression par les artères pulmonaires dilatées par anévrisme), une sténose pulmonaire, une cyanose et une insuffisance cardiaque."},"de":{"name":"Pulmonalklappenagenesie","synonyms":["Pulmonalklappe, kongenitales Fehlen der","Syndrom der fehlenden Pulmonalklappe"]},"es":{"name":"Agenesia de válvula pulmonar","synonyms":["Ausencia congénita de válvula pulmonar","Síndrome de válvula pulmonar ausente"],"definition":"La ausencia de la válvula pulmonar es una malformación cardíaca congénita poco frecuente caracterizada por una ausencia total o parcial de las membranas de la válvula pulmonar asociada con estenosis del orificio de la arteria pulmonar y dilatación aneurismática de las arterias pulmonares. Por lo general se presenta en asociación con malformaciones cardiovasculares adicionales, tales como la tetralogía de Fallot o defecto septal ventricular, o como parte de un síndrome (p. ej. el síndrome de deleción 22q11.2; ver este término). Las manifestaciones clínicas dependen de la presencia de malformaciones cardíacas asociadas e incluyen insuficiencia pulmonar, obstrucción bronquial (secundaria a la compresión por la dilatación aneurismática de las arterias pulmonares) estenosis pulmonar, cianosis y fallo cardíaco."},"it":{"name":"Assenza congenita della valvola polmonare","synonyms":["Agenesia della valvola polmonare (PVA)"],"definition":"L'agenesia della valvola polmonare è una malformazione cardiaca congenita rara, caratterizzata dall'assenza totale o parziale dei foglietti della valvola polmonare, associata a stenosi dell'orifizio dell'arteria polmonare e dilatazione aneurismatica delle arterie polmonari. Di solito si associa ad altre malformazioni cardiovascolari, come la tetralogia di Fallot o a difetti del setto ventricolare, oppure fa parte di una sindrome (ad esempio la sindrome da delezione 22q11.2; si veda questo termine). I segni clinici variano in rapporto alla presenza di altri difetti cardiaci e comprendono l'insufficienza polmonare, l'ostruzione bronchiale (secondaria alla compressione dovuta alla dilatazione aneurismatica delle arterie polmonari), la stenosi polmonare, la cianosi e l'insufficienza cardiaca."},"nl":{"name":"Agenesie van pulmonalisklep","synonyms":["Afwezige pulmonalisklep-syndroom","Congenitale afwezigheid van pulmonalisklep","PVA"],"definition":"Longklepagenesie is een zeldzame congenitale hartmalformatie die gekarakteriseerd wordt door een volledige of gedeeltelijke afwezigheid van de klepbladen van de longkleppen, geassocieerd met stenose van de uitstroomopening van de longslagader en aneurysma van de longslagaders. Meestal is de ziekte geassocieerd met bijkomende cardiovasculaire malformaties zoals tetralogie van Fallot of ventrikelseptumdefect, of ze kan voorkomen als onderdeel van een syndroom (e.g. 22q11.2 deletiesyndroom; zie deze term). Klinische kenmerken hangen af van de aanwezigheid van geassocieerde hartmalformaties en zijn onder meer pulmonale insufficiëntie, bronchiale obstructie (secundair aan compressie door aneurysmatisch gedilateerde longslagaders), pulmonale stenose, cyanose, en hartfalen."},"pt":{"name":"Agenesia das valvas pulmonares"},"pl":{"name":"Agnezja zastawki płucnej","synonyms":["PVA","Wrodzony brak zastawki płucnej"]},"cs":{"name":"Ageneze pulmonální chlopně","synonyms":["PVA","Vrozená absence pulmonální chlopně"]},"uk":{"name":"Агенезія легеневого клапана","synonyms":["Синдром відсутності легеневого клапана","Вроджена відсутність легеневого клапана","PVA"],"definition":"Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure."},"zh":{"name":"肺动脉瓣发育不全","synonyms":["原发性肺动脉瓣缺如"]},"tr":{"name":"Pulmoner kapak agenezi","synonyms":["PVA","Pulmoner kapak yokluğu sendromu","Pulmoner kapağın Doğumsal yokluğu"]}},"xrefs":[{"source":"MONDO","code":"0020064","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265831","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2445,"name":"Conotruncal heart malformations","classifications":[147,148]},{"orpha":98719,"name":"Pulmonary artery or pulmonary branch anomaly","classifications":[147,148,198]}],"children":[{"orpha":99048,"name":"Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome","type":"Malformation syndrome"},{"orpha":101206,"name":"Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}