{"orpha":2037,"name":"Congenital aortopulmonary window","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital aortopulmonary artery fistula","Congenital aortopulmonary septal defect"],"definition":"A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2037/","orphanet_url":"https://www.orpha.net/en/disease/detail/2037","names":{"fr":{"name":"Fenêtre aorto-pulmonaire congénitale","synonyms":["Fistule aorte-artère pulmonaire congénitale"],"definition":"Malformation cardiaque congénitale non syndromique rare caractérisée par une communication entre l'aorte ascendante et le tronc pulmonaire en présence de deux valves semi-lunaires normalement formées. Il peut s'agir d'une maladie isolée ou apparaissant en association avec d'autres malformations. Les signes cliniques sévères, tels qu'une insuffisance cardiaque congestive ou une hypertension pulmonaire, se développent généralement tôt dans la vie."},"de":{"name":"Aorto-pulmonale Fenster, kongenitales","synonyms":["Arterienfistel, aorto-pulmonale kongenitale","Septumdefekt, aorto-pulmonaler kongenitaler"],"definition":"Eine seltene angeborene nicht-syndromale Fehlbildung des Herzens, die durch eine Verbindung zwischen der aufsteigenden Aorta und dem Truncus pulmonalis bei Vorhandensein von zwei normal ausgebildeten semilunaren Klappen gekennzeichnet ist. Sie kann isoliert oder in Verbindung mit anderen Anomalien auftreten. Schwere klinische Manifestationen wie kongestive Herzinsuffizienz oder pulmonale Hypertonie entwickeln sich typischerweise im frühen Leben."},"es":{"name":"Ventana aortopulmonar congénita","synonyms":["Defecto septal aortopulmonar congénito","Fístula aorta-arteria pulmonar congénita"],"definition":"Es una malformación cardíaca congénita no sindrómica y poco frecuente caracterizada por una comunicación entre la aorta ascendente y el tronco pulmonar en presencia de dos válvulas semilunares normales. Puede presentarse como un hallazgo aislado o en asociación a otras anomalías. Las manifestaciones clínicas graves, tales como la insuficiencia cardíaca congestiva o la hipertensión pulmonar, debutan típicamente en los primeros años de vida."},"it":{"name":"Finestra aorto-polmonare congenita","synonyms":["Difetto congenito del setto aorto-polmonare","Finestra aortica","Fistola aorta-arteria polmonare congenita"],"definition":"Si tratta di una cardiopatia congenita non sindromica rara, caratterizzata da una comunicazione tra l'aorta ascendente e il tronco polmonare, in presenza di due valvole normali a forma di semiluna. La malformazione può essere isolata o associarsi ad altre anomalie. I sintomi gravi, come l'insufficienza cardiaca congestizia o l'ipertensione polmonare, di solito si manifestano precocemente."},"nl":{"name":"Congenitaal aortopulmonaal venster","synonyms":["Congenitaal aortopulmonaal septumdefect","Congenitale aortopulmonale fistel"],"definition":"Een zeldzame congenitale niet-syndromale malformatie van hart, gekarakteriseerd door een verbinding tussen aorta ascendens en truncus pulmonalis in aanwezigheid van twee normaal gevormde semilunaire kleppen. De aandoening kan geïsoleerd voorkomen, of geassocieerd zijn met andere anomalieën. Ernstige klinische manifestaties, zoals congestief hartfalen of pulmonale hypertensie, ontwikkelen doorgaans al op jonge leeftijd."},"pt":{"name":"Janela aorto-pulmonar congénita","synonyms":["Defeito do septo aorto-pulmonar congénito","Fístula aorta-artéria pulmonar congénita"]},"pl":{"name":"Wrodzone okienko aortalno-płucne","synonyms":["Okienko aortalne","Wrodzona przetoka tętnicza aortalno-płucna","Wrodzony ubytek przegrody aortalno-płucnej"]},"cs":{"name":"Vrozené aortopulmonální okno","synonyms":["Vrozený defekt aortopulmonálního septa","Vrozená aortopulmonální píštěl"]},"uk":{"name":"Аорто-пульмональне вікно","synonyms":["Вроджена нориця аорто-легеневої артерії","Вроджений дефект аорто-легеневої перегородки"],"definition":"A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life."},"zh":{"name":"先天性主肺动脉窗","synonyms":["先天性主肺动脉瘘"]},"tr":{"name":"Doğumsal aortopulmoner pencere","synonyms":["Doğumsal aortopulmoner septal defekt","Doğumsal aortopulmoner arter fistülü"]}},"xrefs":[{"source":"ICD-10","code":"Q21.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8B.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1988278118"},{"source":"MONDO","code":"0016077","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0003516","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"738","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Worldwide","status":"Validated","source":"32502030[PMID]_28723032[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}