{"orpha":99077,"name":"Kommerell diverticulum","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99077/","orphanet_url":"https://www.orpha.net/en/disease/detail/99077","names":{"fr":{"name":"Diverticule de Kommerel","definition":"Anomalie de développement de la crosse aortique caractérisée par un diverticule au niveau de la partie proximale de l'aorte descendante en position gauche ou droite donnant naissance à une artère sous-clavière aberrante. Le DK est principalement asymptomatique, mais peut devenir symptomatique à la suite de la dilatation du DK, de l'athérome et de la fibrose du tissu paratrachéal ou para-oesophagien, se manifestant par des signes de compression trachéale (plus fréquents chez les enfants), de compression oesophagienne (dysphagie lusoria, plus fréquente chez les patients présentant une crosse aortique droite), de douleur thoracique ou de différence de pression artérielle dans les membres supérieurs. Le DK peut également prédisposer à la dissection ou à la rupture aortique."},"de":{"name":"Kommerell-Divertikel","definition":"Das Kommerell-Divertikel (KD) ist eine Entwicklungsanomalie des Aortenbogens, die durch eine sackartige Erweiterung bzw. Ausstülpung an der proximalen absteigenden Aorta mit linker oder rechter Bogenkonfiguration gekennzeichnet ist und als Folge dessen zu einer anormalen Aorta subclaviae führt. Das KD ist in erster Linie asymptomatisch, kann sich aber sekundär symptomatisch entwickeln, insbesondere durch Dilatation des KD, Bildung von Atheroma und fibrotische Veränderungen im paratrachealen oder paraösophagealen Gewebe, die als Trachealkompression (häufiger bei Kindern), Ösophaguskompression (Dysphagie-Lusoria; häufiger bei Patienten mit einem rechtsseitigen Aortenbogen), Brustschmerzen oder Blutdruckdifferenz in den oberen Gliedmaßen manifestieren. KD kann auch zu einer Aortendissektion oder -ruptur führen."},"es":{"name":"Divertículo de Kommerell","definition":"Es una anomalía del desarrollo del arco aórtico caracterizada por un divertículo localizado en la aorta descendente proximal, ya sea con arco aórtico izquierdo o derecho, del que surge una arteria subclavia aberrante. Suele ser asintomático, pero puede producir síntomas por dilatación del divertículo o por ateroma y cambios fibróticos del tejido paratraqueal o paraesofágico que pueden producir signos de compresión traqueal (más común en niños), compresión esofágica (disfagia lusoria; más frecuente en pacientes con arco aórtico derecho), dolor torácico o diferencia de presión arterial entre las extremidades superiores. También puede predisponer a disección o rotura aórtica."},"it":{"name":"Diverticolo di Kommerell","definition":"Il diverticolo di Kommerell (KD) è un'anomalia dello sviluppo dell'arco aortico caratterizzata dalla presenza di un diverticolo nella porzione prossimale dell'aorta discendente della configurazione dell'arco sinistro o destro, che comporta la presenza di un'arteria succlavia aberrante. Inizialmente il KD è asintomatico ma può diventare sintomatico a causa della dilatazione del diverticolo, della presenza di ateromi e di alterazioni fibrotiche del tessuto paratracheale o paraesofageo, che si manifestano con segni di compressione sulla trachea (più comuni nei bambini), sull'esofago (disfagia lusoria, più comune nei pazienti con arco aortico destro), dolore toracico e differenze nella pressione sanguigna degli arti superiori. Il KD può predisporre alla dissecazione o alla rottura dell'aorta."},"nl":{"name":"Divertikel van Kommerell","definition":"Een divertikel van Kommerell (KD) is een ontwikkelingsanomalie van de aortaboog en wordt gekarakteriseerd door een divertikel ter hoogte van de proximale neerdalende aorta (aorta descendens), die links- of rechtszijdig kan zijn, waaruit een aberrante ondersleutelbeenslagader (arteria subclavia) ontstaat. KD is voornamelijk asymptomatisch maar kan symptomatisch worden secundair aan dilatatie van KD, atheroom en fibrotische veranderingen in paratracheaal of para-oesofageaal weefsel, en zich uiten met tekenen van tracheacompressie (meer voorkomend bij kinderen), oesofageale compressie (dysphagia lusoria; meer voorkomend bij patiënten met een rechtszijdige aortaboog), pijn in de borst, of een bloeddrukverschil in de bovenste ledematen. KD kan ook de vatbaarheid verhogen voor aortadissectie of -ruptuur."},"pt":{"name":"Divertículo de Kommerell"},"pl":{"name":"Uchyłek Kommerella"},"cs":{"name":"Kommerellův divertikl"},"uk":{"name":"Дивертикул Коммереля","definition":"Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture."},"zh":{"name":"Kommerell憩室","definition":"Kommerell憩室(KD)是一种主动脉弓发育异常，其特征是左、右弓形态的降主动脉近端有憩室，导致锁骨下动脉异常。KD主要无症状，但可能继发于KD扩张、气管旁或食管旁组织中的动脉粥样硬化和纤维性改变，表现为气管受压(在儿童中更常见)、食管受压(食管压迫性吞咽困难；右侧主动脉弓患者更常见)、胸痛或上肢血压差的迹象。KD也可能导致主动脉夹层或破裂。"},"tr":{"name":"Kommerell divertikülü"}},"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":"300462821"},{"source":"MONDO","code":"0020415","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081282","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":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}