{"orpha":3092,"name":"Fixed subaortic stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3092/","orphanet_url":"https://www.orpha.net/en/disease/detail/3092","names":{"fr":{"name":"Rétrécissement aortique sous-valvulaire","definition":"Une malformation cardiaque rare caractérisée par de la voie d'éjection du ventricule gauche en dessous de la valve aortique (LVOT) par le tissu membranaire ou fibromusculaire. Elle se produit comme une lésion isolée ou en association avec des malformations cardiaques supplémentaires (communication interventriculaire, persistance du canal artériel, coarctation de l'aorte), qui présente dans l'enfance des signes d'obstruction LVOT (dyspnée, douleur thoracique, syncope, palpitations) et qui peut potentiellement entraîner des complications potentiellement mortelles (insuffisance aortique, endocardite infectieuse). Il comprend trois sous-formes anatomiques: la sténose subaortique membranaire modérée (tissu membraneux entourant le LVOT), la sténose subaortique fibromusculaire modérée (tissu fibromusculaire entourant le LVOT) et la sténose subaortique en tunnel (rétrécissement diffus en forme de tunnel fibromusculaire du LVOT), les deux dernières formes étant généralement plus sévère que la forme membraneuse."},"de":{"name":"Subaortenstenose, fixierte"},"es":{"name":"Estenosis subaórtica fija","definition":"Es una malformación cardíaca poco frecuente caracterizada por la obstrucción, por tejido membranoso o fibromuscular, del tracto de salida del ventrículo izquierdo (TSVI) por debajo de la válvula aórtica. Se presenta en la infancia como una lesión aislada o asociada a malformaciones cardíacas adicionales (tales como comunicación interventricular, ductus arterioso persistente, coartación aórtica), con signos de obstrucción del TSVI (p. ej., disnea, dolor torácico, síncope, palpitaciones) y que puede derivar en complicaciones potencialmente mortales (p. ej., insuficiencia aórtica, endocarditis infecciosa). Comprende tres subtipos anatómicos: estenosis subaórtica membranosa fija discreta (tejido membranoso que rodea al TSVI, estenosis subaórtica fibromuscular discreta (tejido fibromuscular que rodea el TSVI) y estenosis subaórtica tuneliforme (estrechamiento fibromuscular difuso con forma de tunel en el TSVI); por lo general, las dos últimas formas son más graves que la forma membranosa."},"it":{"name":"Stenosi subaortica fissa","definition":"La stenosi subaortica fissa (FSS) è una cardiopatia rara caratterizzata dall'ostruzione, da parte di una membrana o di tessuto fibromuscolare, del tratto di efflusso del ventricolo sinistro (LVOT) sotto la valvola aortica. Si presenta come lesione isolata o associata ad altre cardiopatie (difetto del setto ventricolare, pervietà del dotto arterioso, coartazione dell'aorta). Esordisce durante l'infanzia con i segni clinici dell'ostruzione del LVOT (dispnea, dolore toracico, sincope, palpitazioni) e può comportare complicanze potenzialmente letali (rigurgito aortico, endocardite infettiva). Comprende tre sottotipi anatomici: la stenosi discreta sottoaortica membranosa fissa (membrana che circonda il LVOT), la stenosi discreta sottoaortica fibromuscolare (tessuto fibromuscolare che circonda il LVOT) e la stenosi sottoaortica a tunnel (restringimento diffuso a forma di tunnel del tessuto fibromuscolare); in genere, le ultime due sono più gravi rispetto alla forma membranosa."},"nl":{"name":"Gefixeerde subaortastenose","definition":"Gefixeerde subaortastenose (FSS) is een zeldzame hartmalformatie die gekarakteriseerd wordt door obstructie van de uitstroombaan van het linkerventrikel (LVOT) onder de aortaklep door membraneus of fibromusculair weefsel. Het kan voorkomen als een geïsoleerde laesie of geassocieerd met bijkomende hartmalformaties (e.g. ventrikelseptumdefect, persisterende ductus arteriosus, coarctatie can de aorta), presenteert zich in de kindertijd met tekenen van LVOT-obstructie (e.g. dyspneu, pijn in de borst, syncope, hartkloppingen) en kan mogelijk leiden tot levensbedreigende complicaties (e.g. aortaregurgitatie, infectieuze endocarditis). Er bestaan drie anatomische onderverdelingen: discrete gefixeerde membraneuze subaortastenose (membraneus weefsel dat de LVOT omringt), discrete fibromusculaire subaortastenose (fibromusculair weefsel dat de LVOT omringt) en tunnel-subaortastenose (fibromusculaire diffuse tunnel-achtige vernauwing van de LVOT), waarvan de twee laatste vormen doorgaans ernstiger zijn dan de membraneuze vorm."},"pt":{"name":"Estenose subaórtica fixa"},"pl":{"name":"Zwężenie podaortalne"},"cs":{"name":"Fixovaná subaortální stenóza"},"uk":{"name":"Фіксований субаортальний стеноз","definition":"Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form."},"zh":{"name":"主动脉瓣下固定性狭窄"},"tr":{"name":"Sabit subaortik stenozu"}},"xrefs":[{"source":"OMIM","code":"271950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q24.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8A.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1471062257"},{"source":"MONDO","code":"0017727","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265853","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":[{"orpha":99052,"name":"Discrete fibromuscular subaortic stenosis","type":"Clinical subtype"},{"orpha":99051,"name":"Discrete fixed membranous subaortic stenosis","type":"Clinical subtype"},{"orpha":99053,"name":"Tunnel subaortic stenosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Childhood"],"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":"2021-08-19","source":"26538250[PMID]_30252341[PMID]_23947905[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031668","label":"Diastolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032092","label":"Left ventricular outflow tract obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004757","label":"Paroxysmal atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null}]}}