{"orpha":3093,"name":"Congenital aortic valve stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3093/","orphanet_url":"https://www.orpha.net/en/disease/detail/3093","names":{"fr":{"name":"Sténose aortique valvulaire congénitale","definition":"Malformation aortique rare de sévérité et de présentation clinique variables. Ces dernières oscillent entre une forme néonatale sévère souvent associée à un arrêt cardiorespiratoire et une sténose à progression lente qui se manifeste plus tardivement par un souffle cardiaque, des douleurs thoraciques, des vertiges et une perte de connaissance qui s'exacerbent après l'effort. L'échocardiographie met en évidence une atrésie ou une dysplasie de la valve aortique, le plus souvent associée à une bicuspidie aortique, une diminution du flux sanguin du ventricule gauche vers l'aorte et une hypertrophie du ventricule gauche."},"de":{"name":"Aortenklappenstenose, kongenitale","synonyms":["Valvuläre kongenitale Aortenstenose"],"definition":"Eine seltene Fehlbildung der Aorta mit unterschiedlichem Schweregrad und klinischem Erscheinungsbild. Das klinische Bild reicht von einer schweren Form bei Neugeborenen, die häufig mit plötzlichem Herztod einhergeht, bis hin zu einer langsam fortschreitenden Stenose, die sich später mit Herzgeräuschen, Brustschmerzen, Schwindel und Bewusstseinsverlust bei belastungsinduzierten Exazerbationen äußert. Die Echokardiographie zeigt eine Atresie oder Dysplasie der Aortenklappe, die meist mit einer bikuspiden Morphologie, einem eingeschränkten linksventrikulären Ausfluss und einer linksventrikulären Hypertrophie einhergeht."},"es":{"name":"Estenosis aórtica valvular del niño","definition":"Es una malformación aórtica poco frecuente con distintas formas de gravedad y de presentación clínica, que varían desde una presentación neonatal grave, a menudo asociada a muerte súbita cardíaca, hasta una estenosis lentamente progresiva de presentación más tardía acompañada de soplo cardíaco, dolor torácico, mareos y pérdida de la conciencia con exacerbaciones inducidas por el ejercicio. La ecocardiografía revela atresia o displasia de la válvula aórtica asociada con mayor frecuencia a morfología bicúspide, restricción al flujo de salida ventricular izquierdo e hipertrofia ventricular izquierda."},"it":{"name":"Stenosi congenita della valvola aortica","definition":"È una malformazione rara dell'aorta, caratterizzata da gravità e segni clinici variabili. Il quadro clinico può essere grave, ad esordio neonatale, spesso associato a morte cardiaca improvvisa, oppure caratterizzato da stenosi a progressione lenta che si manifesta successivamente con soffio cardiaco, dolore toracico, vertigini, perdita di coscienza ed esacerbazioni indotte dall'esercizio fisico. L'ecocardiografia evidenzia l'atresia o la displasia della valvola aortica, per lo più con morfologia bicuspide, restrizione dell'efflusso dal ventricolo sinistro ed ipertrofia del ventricolo sinistro."},"nl":{"name":"Congenitale aortaklepstenose","definition":"Een zeldzame malformatie van de aorta met variabele gradaties van ernst en variabele klinische presentatie. Het klinisch beeld varieert van een neonatale, ernstige presentatie die vaak is geassocieerd met plotse hartdood, tot een traag progressieve stenose die zich later presenteert met hartruis, pijn in de borst, duizeligheid, bewustzijnsverlies met inspanningsgeïnduceerde exacerbaties. Echocardiografie toont atresie of dysplasie van de aortaklep, meestal geassocieerd met een bicuspide morfologie, beperkte uitstroom uit het linkerventrikel, en hypertrofie van het linkerventrikel."},"pt":{"name":"Estenose da válvula aórtica congénita"},"pl":{"name":"Wrodzone zwężenie zastawki aorty"},"cs":{"name":"Vrozená stenóza aortální chlopně"},"uk":{"name":"Вроджений стеноз аортального клапана","definition":"A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy."},"zh":{"name":"先天性主动脉瓣狭窄"},"tr":{"name":"Doğumsal aort kapak stenozu"}},"xrefs":[{"source":"ICD-10","code":"Q23.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8A.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1824398514"},{"source":"MONDO","code":"0017735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152417","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010371","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]},{"orpha":98725,"name":"Ascending aorta anomaly","classifications":[147,148,198]}],"children":[{"orpha":95448,"name":"Congenital aortic valve atresia","type":"Clinical subtype"},{"orpha":101043,"name":"Congenital aortic valve dysplasia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-04","source":"5659398[PMID]_3627218[PMID]_17382664[PMID]_20643258[PMID]_21109119[PMID]_5104978[PMID]_568478[PMID]_7378217[PMID]","terms":[{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010883","label":"Aortic valve atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004380","label":"Aortic valve calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005176","label":"Dysplastic aortic valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025075","label":"Increased QRS voltage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030850","label":"Abnormal pulse pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100584","label":"Endocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012727","label":"Thoracic aortic aneurysm","frequency":"Very rare (<4-1%)","criteria":null}]}}