{"orpha":95459,"name":"Congenital tricuspid stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95459/","orphanet_url":"https://www.orpha.net/en/disease/detail/95459","names":{"fr":{"name":"Sténose tricuspide congénitale","definition":"Malformation tricuspide congénitale rare caractérisée par le rétrécissement de l'ouverture de la valve tricuspide dû à des anomalies valvulaires congénitales, telles que le développement incomplet des feuillets valvulaires, des cordages tendineux raccourcis et malformés, un annulus de petite taille et/ou des muscles papillaires en nombre et de taille anormaux, entraînant une obstruction du flux sanguin vers le ventricule droit. Les signes cliniques dépendent du degré de la sténose, ainsi que de la présence ou de l'absence d'autres anomalies cardiaques, et comprennent, entre autres, une fatigabilité accrue, un gonflement des membres inférieurs et une hépatomégalie."},"de":{"name":"Trikuspidalklappenstenose, kongenitale","definition":"Eine seltene angeborene Fehlbildung der Trikuspidalklappe, die durch eine Verengung der Trikuspidalklappenöffnung aufgrund angeborener Klappenanomalien, wie unvollständig entwickelte Segel, verkürzte und fehlgebildete Chordae tendineae, kleiner Annulus und/oder abnorme Anzahl und Größe der Papillarmuskeln, gekennzeichnet ist und zu einer Obstruktion des rechtsventrikulären Einstroms führt. Das klinische Erscheinungsbild hängt vom Grad der Stenose sowie vom Vorhandensein oder Fehlen zusätzlicher kardialer Anomalien ab und umfasst u. a. leichte Ermüdbarkeit, Schwellung der unteren Gliedmaßen und Hepatomegalie."},"es":{"name":"Estenosis tricuspídea congénita","definition":"Es una malformación tricuspídea congénita poco frecuente caracterizada por un estrechamiento del orificio de la válvula tricúspide debido a anomalías valvulares congénitas, como el desarrollo incompleto de las valvas, acortamiento y malformación de los cordones tendinosos, reducción del tamaño del anillo y/o número y tamaño anómalo de los músculos papilares, que deriva en una obstrucción del flujo de entrada al ventrículo derecho. La presentación clínica depende del grado de estenosis, así como de la presencia o ausencia de anomalías cardíacas adicionales, e incluye fatiga, edema de los miembros inferiores y hepatomegalia, entre otros."},"it":{"name":"Stenosi congenita della tricuspide","definition":"Si tratta di una malformazione congenita rara della tricuspide, caratterizzata da un restringimento dell'orifizio della valvola tricuspide causato da anomalie congenite della valvola, che comprendono i lembi iposviluppati, le corde tendinee corte e malformate, l'ipoplasia dell'anello e/o le anomalie del numero e delle dimensioni dei muscoli papillari, che causano l'ostruzione dell'afflusso nel ventricolo destro. Il quadro clinico dipende dal grado della stenosi e dall'eventuale presenza di altre cardiopatie, e comprende l'affaticamento, il gonfiore degli arti inferiori e l'epatomegalia."},"nl":{"name":"Congenitale tricuspidalisklepstenose","definition":"Een zeldzame congenitale malformatie van tricuspidalisklep, gekenmerkt door vernauwing van ostium van tricuspidalisklep door congenitale klepanomalieën, zoals onvolledig ontwikkelde klepbladen, abnormaal korte en misvormde chordae tendineae, kleine annulus, en/of abnormaal aantal en abnormale grootte van papillaire spieren, met als resultaat obstructie van instroom in het rechterventrikel. De klinische presentatie hangt af van de mate van stenose, alsook van de aan- of afwezigheid van bijkomende hartanomalieën, en omvat onder meer snelle vermoeibaarheid, zwelling van onderste ledematen, en hepatomegalie."},"pt":{"name":"Estenose da tricúspide, congénita"},"pl":{"name":"Wrodzone zwężenie zastawki trójdzielnej"},"cs":{"name":"Vrozená trikuspidální stenóza"},"uk":{"name":"Вроджений трикуспідальний стеноз","definition":"A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others."},"zh":{"name":"先天性三尖瓣狭窄"},"tr":{"name":"Doğumsal triküspit darlık"}},"xrefs":[{"source":"ICD-10","code":"Q22.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA87.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1996822362"},{"source":"MONDO","code":"0019813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265836","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010656","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98721,"name":"Congenital tricuspid malformation","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-26","source":"7788951[PMID]_7743689[PMID]_7720297[PMID]_5837153[PMID]","terms":[{"hpo":"HP:0010446","label":"Tricuspid stenosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Excluded (0%)","criteria":null}]}}