{"orpha":1456,"name":"Middle aortic syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Abdominal coarctation","Coarctation of the abdominal aorta","MAC","Mid-aortic dysplastic syndrome","Mid-aortic syndrome","Midaortic syndrome","Middle aortic coarctation"],"definition":"A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1456/","orphanet_url":"https://www.orpha.net/en/disease/detail/1456","names":{"fr":{"name":"Coarctation atypique de l'aorte","synonyms":["Coarctation aortique atypique","Coarctation de l'aorte abdominale","Syndrome \"mid-aortic\""],"definition":"Anomalie vasculaire rare caractérisée par un rétrécissement segmentaire de l'aorte thoracique descendante abdominale et/ou distale, avec une atteinte variable des artères viscérales et rénales, se manifestant généralement chez les enfants et les jeunes adultes par une hypertension précoce et réfractaire, un angor mésentérique et une claudication des membres inférieurs, pouvant entraîner des complications engageant potentiellement le pronostic vital, en association avec une hypertension sévère (infarctus du myocarde, insuffisance cardiaque, rupture aortique, insuffisance rénale et hémorragie intracrânienne). Les causes peuvent être diverses, congénitales ou acquises, mais la maladie est le plus souvent secondaire à une maladie inflammatoire acquise (artérite de Takayasu ou artérite à cellules géantes)."},"de":{"name":"Mid-Aortic-Syndrom","synonyms":["Aortenkoarktation, abdominale","Aortenkoarktation, mittlere","MAS"],"definition":"Eine seltene Gefäßanomalie, die durch eine segmentale Verengung der abdominalen und/oder distal absteigenden thorakalen Aorta mit unterschiedlicher Beteiligung der viszeralen und renalen Arterien gekennzeichnet ist und sich häufig bei Kindern und jungen Erwachsenen mit früh einsetzender und therapieresistenter Hypertonie, abdominaler Angina pectoris und Claudicatio intermittens der unteren Extremitäten manifestiert. Sie kann zu lebensbedrohlichen Komplikationen im Zusammenhang mit schwerem Bluthochdruck führen (z. B. Myokardinfarkt, Herzinsuffizienz, Aortenruptur, Niereninsuffizienz und intrakranielle Blutung). Es kann verschiedene angeborene oder erworbene Ursachen haben, ist jedoch meist sekundär zu einer erworbenen entzündlichen Erkrankung (d. h. Takayasu-Arteriitis oder Riesenzellarteriitis)."},"es":{"name":"Síndrome aórtico medio","synonyms":["Coartación abdominal","Coartación aórtica media","Coartación de la aorta abdominal","Síndrome aorto-medial","Síndrome de aorta media","Síndrome displásico de aorta media"],"definition":"Es una anomalía vascular poco frecuente caracterizada por la estenosis segmentaria de la aorta torácica descendente o la abdominal, con afectación variable de las arterias viscerales y renales. Por lo habitual, se presenta en niños y adultos jóvenes, con un debut precoz de hipertensión refractaria, angina abdominal y claudicación en las extremidades inferiores que puede conducir a complicaciones potencialmente mortales asociadas a la hipertensión grave (como infarto de miocardio, insuficiencia cardíaca, rotura aórtica, insuficiencia renal y hemorragia intracraneal). Puede deberse a diversas causas congénitas o adquiridas pero, en la mayoría de los casos es secundaria a una enfermedad inflamatoria adquirida (como arteritis de Takayasu o arteritis de células gigantes)."},"it":{"name":"Sindrome dell'aorta media","synonyms":["Coartazione addominale","Coartazione dell'aorta addominale","Coartazione medioaortica","MAC","Sindrome medio-aortica","Sindrome medio-aortica displastica","Sindrome medioaortica"],"definition":"La coartazione dell'aorta media è un'anomalia vascolare rara, caratterizzata dal restringimento segmentale dell'aorta addominale e/o toracica discendente distale con interessamento variabile delle arterie viscerali e renali. Di solito esordisce nei bambini e nei giovani adulti con ipertensione refrattaria, ad esordio precoce, angina addominale e claudicatio degli arti inferiori; possono verificarsi complicanze potenzialmente letali associate alla grave ipertensione (infarto miocardico, insufficienza cardiaca, rottura dell'aorta, insufficienza renale ed emorragia intracranica). Le cause della malattia sono congenite o acquisite ed è spesso secondaria a una malattia infiammatoria acquisita (arterite di Takayasu o arterite a cellule giganti; si vedano questi termini)."},"nl":{"name":"Mid-aorta syndroom","synonyms":["Abdominale coarctatie","Coarctatie van abdominale aorta","Coarctatie van aorta abdominalis","MAC","Mid-aorta coarctatie","Mid-aorta dysplastisch syndroom"],"definition":"Een zeldzame vasculaire anomalie, gekenmerkt door segmentale vernauwing van buikslagader en/of distale dalende deel van thoracale aorta, met variabele betrokkenheid van viscerale en renale slagaders, wat zich doorgaans presenteert bij kinderen en jonge volwassenen met vroeg aanvangende en refractaire hypertensie, abdominale angina, en claudicatie van onderste ledematen, wat kan leiden tot levensbedreigende complicaties geassocieerd met ernstige hypertensie (zijnde hartinfarct, hartfalen, ruptuur aorta, nierinsufficiëntie en intracraniële hemorragie). Het kan te wijten zijn aan verschillende congenitale of verworven oorzaken, maar is meestal secundair aan een verworven inflammatoire ziekte (Takayasu arteritis of reuzencel-arteritis)."},"pt":{"name":"Síndrome aórtico médio","synonyms":["Coartação abdominal","Coartação aórtica média","Coartação da aorta abdominal","MAC","Síndrome displásico aórtico médio","Síndrome médio-aórtico"],"definition":"Uma anomalia vascular rara caracterizada pelo estreitamento segmentar da aorta abdominal e/ou da porção distal da aorta torácica descendente, com envolvimento variável das artérias viscerais e renais, que se manifesta comummente em crianças e adultos jovens com hipertensão de início precoce e refratária, angina abdominal e claudicação dos membros inferiores, podendo levar a complicações potencialmente fatais associadas a hipertensão grave (por exemplo, enfarte do miocárdio, insuficiência cardíaca, rotura da aorta, insuficiência renal e hemorragia intracraniana). Pode ser causada por diversos fatores congénitos ou adquiridos, mas é mais frequentemente secundária a uma doença inflamatória adquirida (por exemplo, arterite Takayasu ou arterite de células gigantes)."},"pl":{"name":"Zespół aorty brzusznej","synonyms":["Koarktacja aorty brzusznej","Zespół dysplastycznej aorty brzusznej","Zespół zwężenia aorty brzusznej","Zespół zwężenia aorty brzusznej","Zespół zwężenia aorty brzusznej"]},"cs":{"name":"Atypická koarktace aorty","synonyms":["Koarktace břišní aorty","Syndrom dysplázie střední aorty","Syndrom střední aorty","Syndrom břišní aorty"]},"uk":{"name":"Mid-aortic синдром (синдром звуження черевного відділу аорти)","synonyms":["Коарктація черевної порожнини","Коарктація черевної аорти","MAC","Диспластичний синдром середнього відділу аорти","Мідаортальний синдром","Синдром середнього відділу аорти","Коарктація середнього відділу аорти"],"definition":"A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis)."},"zh":{"name":"非典型主动脉缩窄","synonyms":["腹主动脉缩窄"]},"tr":{"name":"Aortun atipik koarktasyonu","synonyms":["Midaortik sendrom","Mid-aortik sendromu","Orta aortik sendromu","Mid-aortik displastik sendrom","Abdominal aortun koarktasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q25.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8B.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"566051188"},{"source":"MONDO","code":"0015446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3496579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98718,"name":"Aortic malformation","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}