{"orpha":99076,"name":"Persistent fifth aortic arch","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99076/","orphanet_url":"https://www.orpha.net/en/disease/detail/99076","names":{"fr":{"name":"Persistance du cinquième arc aortique","definition":"Anomalie congénitale rare des artères de gros calibre caractérisée par des vaisseaux extrapéricardiques prenant naissance dans l'aorte ascendante à proximité de l'artère brachiocéphalique et se terminant soit dans l'aorte dorsale, soit dans les artères pulmonaires via un canal artériel persistant. La connexion qui en résulte est systémico-systémique ou systémico-pulmonaire. Parmi les manifestations cliniques figurent : intolérance à l'effort, diminution des pouls fémoraux, cyanose avec ou sans hypertension pulmonaire et insuffisance cardiaque. D'autres anomalies cardiovasculaires congénitales sont souvent présentes et façonnent le tableau clinique."},"de":{"name":"Aortenbogen, fünfter persistierender","definition":"Eine seltene, angeborene Anomalie der großen Arterien, die durch ein extraperikardiales Gefäß gekennzeichnet ist, das aus der aufsteigenden Aorta proximal der Arteria brachiocephalica entspringt und entweder in der dorsalen Aorta oder in den Lungenarterien über einen persistierenden Arterienkanal endet. Die daraus resultierende Verbindung ist eine systemische-zu-systemische oder systemische-zu-pulmonale Verbindung. Zu den klinischen Manifestationen gehören Belastungsintoleranz, verminderte Oberschenkelpulse, Zyanose mit oder ohne pulmonale Hypertonie und Herzversagen. Andere angeborene kardiovaskuläre Anomalien sind häufig vorhanden und beeinflussen das klinische Erscheinungsbild."},"es":{"name":"Persistencia del quinto arco aórtico","definition":"Es una anomalía congénita poco frecuente de las grandes arterias caracterizada por un vaso extrapericárdico procedente de la aorta ascendente proximal y que llega a la arteria braquiocefálica finalizando en la aorta dorsal o en las arterias pulmonares a través de un ductus arterioso persistente. La conexión resultante puede ser sistémica-sistémica o sistémico-pulmonar. Las manifestaciones clínicas incluyen intolerancia al ejercicio, pulsos femorales reducidos, cianosis con o sin hipertensión pulmonar e insuficiencia cardíaca. A menudo están presentes otras anomalías cardiovasculares congénitas adicionales que influyen en la presentación clínica."},"it":{"name":"Persistenza del quinto arco aortico","definition":"È un'anomalia congenita rara delle grandi arterie, caratterizzata dalla presenza di un vaso extra-pericardico che origina dall'aorta ascendente in prossimità dell'arteria brachiocefalica e termina nell'aorta dorsale oppure nelle arterie polmonari attraverso un dotto arterioso pervio. La connessione che ne deriva è di tipo sistemico-sistemico o sistemico-polmonare. Il quadro clinico comprende l'intolleranza all'esercizio fisico, la riduzione dei polsi femorali, la cianosi con o senza ipertensione polmonare e l'insufficienza cardiaca. Spesso si associa ad altre anomalie cardiovascolari congenite, che influenzano il quadro clinico."},"nl":{"name":"Persistente vijfde aortaboog","definition":"Een zeldzame, congenitale anomalie van de grote slagaders, gekarakteriseerd door een extrapericardiaal bloedvat dat ontspringt in de stijgende aorta, proximaal aan de truncus brachiocephalicus (arm-hoofdslagader), en eindigt in de aorta dorsalis of in de longslagaders via een persisterende ductus arteriosus. De resulterende verbinding is systemisch naar systemisch of systemisch naar pulmonaal. Klinische manifestaties zijn onder meer inspanningsintolerantie, verminderde pulsaties van de arteria femoralis (dijslagader), cyanose met of zonder pulmonale hypertensie en hartfalen. Andere congenitale cardiovasculaire anomalieën zijn vaak aanwezig en beïnvloeden het klinisch beeld."},"pt":{"name":"Quinto arco aórtico persistente"},"pl":{"name":"Przetrwały piąty łuk aorty"},"cs":{"name":"Perzistující pátý aortální oblouk"},"uk":{"name":"Персистуюча пята дуга аорти","definition":"A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation."},"zh":{"name":"永存第5对主动脉弓","definition":"该病是一种罕见的先天性大动脉畸形，其特征是心包外血管从头臂动脉近端的升主动脉发出，通过持续开放的动脉导管终止于背主动脉或肺动脉内，可连接全身-全身或全身-肺。临床表现包括运动不耐受、股动脉搏动减少、发紫伴或不伴肺动脉高压和心力衰竭，其他先天性心血管畸形也经常出现并影响临床表现。"},"tr":{"name":"Kalıcı beşinci aort arkı"}},"xrefs":[{"source":"ICD-10","code":"Q25.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8B.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"82536098"},{"source":"MONDO","code":"0020414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345066","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1132,"name":"Aortic arch defects","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}