{"orpha":99079,"name":"Cervical aortic arch","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99079/","orphanet_url":"https://www.orpha.net/en/disease/detail/99079","names":{"fr":{"name":"Aorte cervicale","synonyms":["Crosse aortique cervicale"],"definition":"Anomalie congénitale rare des artères de gros calibre caractérisée par une arche aortique en position haute à la jonction cervico-thoracique. La plupart des patients restent asymptomatiques, certains présentent un souffle et une masse battante au niveau du cou, un stridor, une dyspnée, une bronchite récurrente, une dysphagie ou des signes et symptômes d'une sténose/d'un anévrisme de l'arc aortique. Parmi les autres anomalies cardiaques congénitales fréquemment associées figurent des anomalies de la latéralité et de la ramification des arcs, une coarctation de l'aorte ou un anévrisme."},"de":{"name":"Aortenbogen, zervikaler","definition":"Eine seltene, angeborene Anomalie der großen Arterien, die durch einen kranial gelegenen Aortenbogen gekennzeichnet ist, der oberhalb der Schlüsselbeine in den Hals aufsteigt. Die meisten Patienten bleiben asymptomatisch, einige zeigen ein Herzgeräusch und einen pulsierenden Tumor am Hals, Stridor, Dyspnoe, rezidivierende Bronchitis, Dysphagie oder Anzeichen und Symptome einer Stenose/Aneurysma des Aortenbogens. Häufig sind andere angeborene Herzanomalien assoziiert, einschließlich Anomalien der Lateralität und Verzweigung des Aortenbogens, Aortenkoarktation oder Aneurysma."},"es":{"name":"Arco aórtico cervical","definition":"Es una anomalía congénita poco frecuente de las grandes arterias caracterizada por un arco aórtico situado en la zona craneal que asciende hasta el cuello por encima de las clavículas. La mayoría de los pacientes permanecen asintomáticos, mientras que otros se presentan con un soplo y una masa pulsátil en el cuello, estridor, disnea, bronquitis recurrente, disfagia o signos y síntomas de estenosis / aneurisma del arco aórtico. Con frecuencia se asocian otras anomalías cardíacas congénitas adicionales que incluyen anomalías de la lateralidad y ramificación del arco, coartación aórtica o aneurisma."},"it":{"name":"Arco aortico cervicale","synonyms":["Sindrome dell'arco aortico"],"definition":"È un'anomalia congenita rara delle grandi arterie, caratterizzata da un arco aortico situato nella zona craniale, ascendente nel collo al di sopra delle clavicole. La maggior parte dei pazienti è asintomatica; solo alcuni presentano un soffio e una massa pulsante a livello del collo, stridore, dispnea, bronchite ricorrente, disfagia o i sintomi di una stenosi/aneurisma dell'arco aortico. Spesso si associa ad altre cardiopatie congenite, comprese le anomalie della lateralità e della ramificazione dell'arco, e la coartazione o l'aneurisma dell'aorta."},"nl":{"name":"Cervicale aortaboog","definition":"Een zeldzame, congenitale anomalie van de grote slagaders, gekarakteriseerd door een craniaal gesitueerde aortaboog die afdaalt in de nek boven de sleutelbeenderen. De meeste patiënten blijven asymptomatisch, maar sommigen vertonen een ruis en een pulsatiele massa in de nek, stridor, dyspneu, recurrente bronchitis, dysfagie of tekenen en symptomen van een stenose/aneurysma van de aortaboog. Vaak zijn andere congenitale hartanomalieën geassocieerd, waaronder afwijkingen van de lateralisatie en aftakking van de aortaboog, en coarctatie of aneurysma can de aorta."},"pt":{"name":"Arco aórtico cervical"},"pl":{"name":"Łuk aorty szyjnej","synonyms":["Zespół łuku aorty"]},"cs":{"name":"Cervikální aortální oblouk","synonyms":["Syndrom aortálního oblouku"]},"uk":{"name":"Високе (шийне) розташування дуги аорти","definition":"A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm."},"zh":{"name":"颈型主动脉弓","definition":"该病是一种罕见的先天性大动脉畸形，特征是位于颅侧的主动脉弓上升到锁骨上方的颈部。大多数患者无症状，一些患者出现杂音和颈部搏动性肿块、喘鸣、呼吸困难、反复支气管炎、吞咽困难或主动脉弓狭窄/动脉瘤的体征和症状。该病常合并其他先天性心脏畸形，包括主动脉弓偏侧和分支异常，主动脉缩窄或动脉瘤。"},"tr":{"name":"Servikal aort ark"}},"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":"1466691538"},{"source":"UMLS","code":"C0345065","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}