{"orpha":3193,"name":"Supravalvular aortic stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["SVAS"],"definition":"A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3193/","orphanet_url":"https://www.orpha.net/en/disease/detail/3193","names":{"fr":{"name":"Sténose aortique supravalvulaire","synonyms":["Rétrécissement aortique supravalvulaire","SVAS"],"definition":"Malformation aortique rare caractérisée par le rétrécissement de la lumière de l'aorte (situé à l'origine de l'aorte) associé ou non à la sténose d'autres artères (artères pulmonaires branches, artères coronaires). Ce rétrécissement de l'aorte ou des branches pulmonaires peut entraver la circulation sanguine, entraînant un souffle cardiaque et une hypertrophie ventriculaire (ventricule gauche en cas d'atteinte de l'aorte, ventricule droit en cas d'atteinte de l'artère pulmonaire)."},"de":{"name":"Aortenstenose, supravalvuläre","synonyms":["SVAS"],"definition":"Eine seltene Fehlbildung der Aorta, die durch eine Verengung des Aortenlumens (in der Nähe ihres Ursprungs) gekennzeichnet ist, die mit oder ohne Verengung anderer Arterien (Pulmonalarterien, Koronararterien) einhergeht. Diese Verengung der Aorta oder der Lungenäste kann den Blutfluss behindern, was zu Herzgeräuschen und ventrikulärer Hypertrophie führt (linker Ventrikel bei Beteiligung der Aorta, rechter Ventrikel bei Beteiligung der Lungenarterie)."},"es":{"name":"Estenosis supravalvular aórtica","synonyms":["SVAS"],"definition":"Es una malformación aórtica poco frecuente caracterizada por el estrechamiento de la luz de la aorta (próximo a su origen), pudiendo estar asociado o no a estenosis de otras arterias (ramas de la arteria pulmonar, arterias coronarias). Este estrechamiento aórtico o de las ramas pulmonares puede obstruir el flujo sanguíneo, derivando en soplo cardíaco e hipertrofia ventricular (ventrículo izquierdo en caso de afectación aórtica y ventrículo derecho en caso de afectación de la arteria pulmonar)."},"it":{"name":"Stenosi sopravalvolare dell'aorta","synonyms":["SVAS"],"definition":"La stenosi sopravalvolare dell'aorta (SVAS) è una malformazione aortica rara caratterizzata dal restringimento del lume dell'aorta (in prossimità della sua origine) con o senza stenosi di altre arterie (rami dell'arteria polmonare, arterie coronarie). Il restringimento dell'aorta o dei rami polmonari può ostacolare il flusso ematico, provocando un soffio cardiaco e l'ipertrofia di un ventricolo (sinistro in caso di coinvolgimento dell'aorta, destro in caso di coinvolgimento dell'arteria polmonare)."},"nl":{"name":"Supravalvulaire aortastenose","synonyms":["SVAS"],"definition":"Een zeldzame malformatie van aorta, gekarakteriseerd door vernauwing van lumen van aorta (nabij de oorsprong), al dan niet geassocieerd met stenose van andere arteriën (takken van longslagader, kransslagaders). Vernauwing van aorta of van takken van longslagader kan de bloeddoorstroming belemmeren, wat resulteert in hartgeruis en ventrikelhypertrofie (linkerventrikel in geval van betrokkenheid van aorta, rechterventrikel in geval van betrokkenheid van longslagader)."},"pt":{"name":"Estenose aórtica supra-vavulvar","synonyms":["SVAS"]},"pl":{"name":"Nadzastawkowe zwężenie aorty","synonyms":["SVAS"]},"cs":{"name":"Supravalvulární stenóza aorty","synonyms":["SVAS"]},"uk":{"name":"Надклапанний аортальний стеноз","synonyms":["SVAS"],"definition":"A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement)."},"zh":{"name":"主动脉瓣上狭窄","synonyms":["SVAS"]},"tr":{"name":"Supravalvular aort darlığı","synonyms":["SVAS"]}},"xrefs":[{"source":"OMIM","code":"185500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q25.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA8A.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1066595728"},{"source":"MONDO","code":"0008504","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D021921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0003499","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"743","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042598","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":271853,"name":"Genetic cardiac anomaly","classifications":[156]}],"children":[],"genes":[{"symbol":"ELN","name":"elastin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10942104[PMID]_19844261[PMID]","hgnc":"3327","ensembl":"ENSG00000049540","omim":"130160","loci":["7q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.3,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-11","source":"23250899[PMID]","terms":[{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004381","label":"Supravalvular aortic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null}]}}