{"orpha":3403,"name":"Uhl anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3403/","orphanet_url":"https://www.orpha.net/en/disease/detail/3403","names":{"fr":{"name":"Anomalie d'Uhl","definition":"Une maladie cardiaque rare caractérisée par une absence presque complète du myocarde dans le ventricule droit entraînant un ventricule droit non fonctionnel à paroi mince se manifestant par des arythmies cardiaques et une insuffisance ventriculaire droite. Des cas d'absence partielle de myocarde ventriculaire droit qui reste asymptomatique ou légèrement symptomatique jusqu'à l'âge adulte ont également été rapportés. Les patients présentant une anomalie complète doivent être envisagés pour une transplantation cardiaque"},"de":{"name":"Uhl-Anomalie"},"es":{"name":"Anomalía de Uhl","definition":"ES una anomalía caracterizada por una ausencia casi completa del miocardio en el ventrículo derecho que da como resultado un ventrículo derecho no funcional de paredes delgadas que se manifiesta con arritmias cardíacas e insuficiencia ventricular derecha. También se han descrito casos de ausencia parcial de miocardio ventricular derecho que permanece asintomático o levemente sintomático hasta la edad adulta. Los pacientes que presenten una anomalía de Uhl completa deben ser considerados para un trasplante cardíaco."},"it":{"name":"Anomalia di Uhl"},"nl":{"name":"Anomalie van Uhl","definition":"Uhl-anomalie wordt gekenmerkt door nagenoeg volledige afwezigheid van myocard in rechterventrikel, wat resulteert in dunwandig, niet-functioneel rechterventrikel dat zich manifesteert met hartritmestoornissen en falen van rechterventrikel. Gevallen van partiële afwezigheid van hartspierweefsel van rechterventrikel, die asymptomatisch of mild symptomatisch tot de volwassenheid blijft, werden ook reeds gerapporteerd. Voor patiënten die zich presenteren met complete Uhl-anomalie dient harttransplantatie overwogen te worden."},"pt":{"name":"Anomalia Uhl"},"pl":{"name":"Anomalia Uhla"},"cs":{"name":"Uhlova anomálie","synonyms":["Cor pseudotriloculare"]},"uk":{"name":"Аномалія Уль","definition":"Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation."},"zh":{"name":"Uhl畸形"},"tr":{"name":"Uhl anomalisi"}},"xrefs":[{"source":"OMIM","code":"107970","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q24.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA88.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"240652322"},{"source":"MONDO","code":"0018084","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536932","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265857","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048951","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217678,"name":"Unclassified cardiomyopathy","classifications":[146]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":84.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-25","source":"33750225[PMID]_33117927[PMID]_28032368[PMID]_26929879[PMID]_24784726[PMID]_28191230[PMID]","terms":[{"hpo":"HP:0031316","label":"Abnormal ventricular myocardium morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034330","label":"Regional right ventricular hypokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033138","label":"Right atrial thrombus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000667","label":"Right ventricular aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010882","label":"Pulmonary valve atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034364","label":"Fibrofatty replacement of right ventricular myocardium","frequency":"Excluded (0%)","criteria":null}]}}