{"orpha":1054,"name":"Aneurysm of sinus of Valsalva","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["SOVA","SVA","Sinus of Valsalva aneurysm"],"definition":"A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1054/","orphanet_url":"https://www.orpha.net/en/disease/detail/1054","names":{"fr":{"name":"Anévrisme du sinus de Valsalva","synonyms":["SOVA"],"definition":"Une anomalie rare du développement embryonnaire touchant un plusieurs sinus aortiques, consistant en une dilatation qui, lorsqu'elle n'est pas rompue, est généralement asymptomatique mais lorsqu'elle est rompue, elle présente une dyspnée progressive à l'effort, de la fatigue, des douleurs thoraciques et peut entraîner des insuffisances cardiaques congestives si non traitée."},"de":{"name":"Sinus-Valsalva-Aneurysma","synonyms":["SOVA","SVA"],"definition":"Eine seltene Anomalie der embryonalen Entwicklung, die einen oder mehrere Sinus aortae betrifft und in einer Dilatation besteht, die, wenn sie nicht rupturiert ist, im Allgemeinen asymptomatisch ist; wenn sie rupturiert ist, führt sie zu progressiver Atemnot bei Belastung, Müdigkeit, Brustschmerzen und kann unbehandelt zu kongestiver Herzinsuffizienz führen."},"es":{"name":"Aneurisma de senos de Valsalva","definition":"Es una malformación cardíaca congénita poco frecuente de uno o más senos aórticos consistentes en una dilatación que suele ser asintomática mientras no se rompa. En caso de rotura, se presenta con disnea de esfuerzo progresiva, cansancio y dolor torácico, pudiendo derivar en insuficiencia cardíaca congestiva en ausencia de tratamiento."},"it":{"name":"Aneurisma del seno di Valsalva","definition":"L'aneurisma del seno di Valsalva (SVA) è una malformazione congenita rara di uno o più seni aortici, che consiste in una dilatazione che, quando non si rompe, di solito è asintomatica; quando si rompe, l'aneurisma esita in dispnea progressiva da sforzo, affaticamento e dolore toracico; se non trattato, esita nell'insufficienza cardiaca congestizia."},"nl":{"name":"Aneurysma van sinus van Valsalva","synonyms":["SOVA","SVA"],"definition":"Een zeldzame congenitale hartmalformatie van een of meer aortasinussen, bestaande uit een dilatatie die zonder scheuren meestal asymptomatisch is, maar die zich in geval van scheuring presenteert met progressieve inspanningsdyspneu, vermoeidheid en pijn op borst, en kan leiden tot congestief hartfalen indien behandeling uitblijft."},"pt":{"name":"Aneurisma dos seios de Valsalva","synonyms":["SOVA","SVA"]},"pl":{"name":"Tętniak zatoki Valsalvy","synonyms":["SOVA","SVA","Sinus of Valsalva aneurysm"],"definition":"Rzadka wrodzona wada rozwojowa serca dotycząca jednej lub więcej zatok aorty, polegająca na ich poszerzeniu, które niepęknięte jest zwykle bezobjawowe, ale po pęknięciu objawia się postępującą dusznością wysiłkową, zmęczeniem, bólem w klatce piersiowej, a nieleczone może prowadzić do zastoinowej niewydolności serca."},"cs":{"name":"Aneuryzma Valsalvova sinu","synonyms":["SOVA","SVA","Sinus of Valsalva aneurysm"]},"uk":{"name":"Аневризма синуса Вальсальви","definition":"A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated."},"zh":{"name":"主动脉窦瘤"},"tr":{"name":"Valsalva sinüs anevrizması"}},"xrefs":[{"source":"ICD-10","code":"Q25.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA8A.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"364348641"},{"source":"MONDO","code":"0015197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2239253","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"670","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98725,"name":"Ascending aorta anomaly","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-17","source":"17437748[PMID]_10798425[PMID]_8461229[PMID]","terms":[{"hpo":"HP:0011645","label":"Dilatation of the sinus of Valsalva","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null}]}}