{"orpha":1880,"name":"Ebstein malformation of the tricuspid valve","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Ebstein anomaly of the tricuspid valve"],"definition":"A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1880/","orphanet_url":"https://www.orpha.net/en/disease/detail/1880","names":{"fr":{"name":"Malformation d'Ebstein de la valve tricuspide","synonyms":["Anomalie d'Ebstein de la valve tricuspide"],"definition":"Anomalie cardiaque congénitale rare caractérisée par un déplacement vers le bas (apical) de l'orifice fonctionnel, dû à une délamination incomplète des feuillets septal et inférieur de la valve tricuspide, donnant lieu à une implantation de ceux-ci à l'intérieur du ventricule droit, plutôt qu'à la jonction atrio-ventriculaire, comme cela est normalement le cas. Le feuillet antérosupérieur est souvent anormal (redondance, fenestrations et l'adhérence à l'appareil sous-valvulaire anormal). La jonction auriculo-ventriculaire et la partie « atrialisée » du ventricule droit sont dilatées, l'amincissement de la paroi ventriculaire droite pouvant être de degrés variables."},"de":{"name":"Ebstein-Anomalie der Trikuspidalklappe","definition":"Eine seltene angeborene Herzanomalie, die durch eine Verlagerung des funktionellen Anulus nach unten (apikal) gekennzeichnet ist, die auf eine unvollständige Ablösung der septalen und inferioren Segel der Trikuspidalklappe zurückzuführen ist, sodass sie innerhalb des rechten Ventrikels und nicht wie erwartet am atrioventrikulären Übergang aufgehängt sind. Das anterosuperiore Segel ist häufig abnormal (Redundanz, Fensterungen, Verankerung mit abnormalem subvalvulärem Apparat). Der atrioventrikuläre Übergang und der ,,atrialisierte'' Teil des rechten Ventrikels sind erweitert, wobei die Wand des rechten Ventrikels unterschiedlich stark ausgedünnt ist."},"es":{"name":"Malformación de Ebstein de la válvula tricúspide","synonyms":["Anomalía de Ebstein de la válvula tricúspide"],"definition":"Es una anomalía cardíaca congénita poco frecuente caracterizada por un desplazamiento inferior (apical) del anillo funcional valvular tricuspídeo. Debido a una delaminación incompleta de las valvas septal e inferior de la válvula tricúspide, quedan articuladas dentro del ventrículo derecho, en lugar de en la unión auriculoventricular. La valva anterosuperior suele presentar anomalías (redundancia, fenestraciones, tethering anormal del aparato subvalvar). La unión auriculoventricular y la porción \"atrializada\" del ventrículo derecho están dilatadas, con grados variables de adelgazamiento de la pared del ventrículo derecho."},"it":{"name":"Malformazione di Ebstein della valvola tricuspide","synonyms":["Anomalia della valvola tricuspide di Ebstein"],"definition":"Si tratta di una cardiopatia congenita rara, caratterizzata da uno spostamento verso il basso (apicale) dell'anello funzionale, secondario ad una delaminazione incompleta del lembo settale e inferiore della valvola tricuspide che, di conseguenza, si trovano all'interno del ventricolo destro, anziché alla giunzione atrioventricolare. Spesso il lembo antero-superiore è anomalo (ridondanza, fenestrazioni, ancoraggio ad un apparato sottovalvare anomalo). La giunzione atrioventricolare e la porzione \"atrializzata\" del ventricolo destro sono dilatate, con un assottigliamento di grado variabile della parete ventricolare destra."},"nl":{"name":"Ebstein-malformatie van tricuspidalisklep","synonyms":["Ebstein-anomalie van tricuspidalisklep"],"definition":"Een zeldzame congenitale hartanomalie, gekenmerkt door neerwaartse (apicale) verplaatsing van de functionele annulus, als gevolg van onvolledige delaminatie van septale en inferieure klepbladen van de tricuspidalisklep naar het rechterventrikel, weg van de normale positie ter hoogte van de atrioventriculaire junctie. Het anterosuperieure klepblad is vaak abnormaal (redundantie, fenestratie, aanhechting met abnormaal subvalvulair apparaat). De atrioventriculaire junctie en het ''geatrialiseerde'' deel van het rechterventrikel zijn gedilateerd, de wand van het rechterventrikel vertoont variabele gradaties van verdunning."},"pt":{"name":"Anomalia Ebstein da válvula tricúspida"},"pl":{"name":"Malformacja Ebsteina","synonyms":["Anomalia Ebsteina zastawki trójdzielnej"]},"cs":{"name":"Ebsteinova malformace","synonyms":["Ebsteinova anomálie trikuspidální chlopně"]},"uk":{"name":"Вада тристулкового клапана Ебштейна","synonyms":["Аномалія тристулкового клапана Ебштейна"],"definition":"A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall."},"zh":{"name":"埃布斯坦畸形","synonyms":["三尖瓣Ebstein畸形"]},"tr":{"name":"Ebstein malformasyonu","synonyms":["Triküspit kapağın Ebstein anomalisi"]}},"xrefs":[{"source":"OMIM","code":"224700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q22.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA87.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"307157712"},{"source":"MONDO","code":"0009144","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013481","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6313","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014075","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]},{"orpha":477805,"name":"Genetic cardiac malformation","classifications":[156]}],"children":[],"genes":[{"symbol":"MYH7","name":"myosin heavy chain 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23956225[PMID]","hgnc":"7577","ensembl":"ENSG00000092054","omim":"160760","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.8,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.5,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2007[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.5,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.2,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.6,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.1,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.1,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":27.2,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2006[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.7,"area":"Taiwan, Province of China","status":"Validated","source":"20138303[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"United States","status":"Not yet validated","source":"21465650[PMID]_19818453[PMID]_18657826[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.6,"area":"Specific population","status":"Validated","source":"15535817[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.8,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-18","source":"30521245[PMID]","terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010316","label":"Ebstein anomaly of the tricuspid valve","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011575","label":"Imperforate tricuspid valve","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031667","label":"Holosystolic murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004306","label":"Abnormality of the endocardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null}]}}