{"orpha":75566,"name":"Loeffler endocarditis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Eosinophilic endocarditis"],"definition":"A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75566/","orphanet_url":"https://www.orpha.net/en/disease/detail/75566","names":{"fr":{"name":"Endocardite de Loeffler","synonyms":["Endocardite à éosinophiles"],"definition":"Cardiomyopathie restrictive rare, caractérisée par une hyper-éosinophilie et un épaississement fibreux de l'endocarde, avec des thrombi généralement larges au niveau de la paroi des ventricules, pouvant induire des complications cardiovasculaires telles qu'une insuffisance cardiaque et une thromboembolie. Elle se manifeste par un oedème, une fatigue et une dyspnée. Elle est généralement secondaire à une atteinte tissulaire liée aux éosinophiles, et est associée à un syndrome hyperéosinophilique idiopathique, à une leucémie chronique éosinophile, à un carcinome ou à un lymphome."},"de":{"name":"Löffler-Endokarditis","synonyms":["Endokarditis, eosinophile"],"definition":"Eine seltene restriktive Kardiomyopathie, die durch Hypereosinophilie und fibröse Verdickung des Endokards gekennzeichnet ist, mit in der Regel großen Thromben an den Ventrikelwänden, die zu kardiovaskulären Komplikationen wie Herzinsuffizienz und Thromboembolie führen können. Sie äußert sich in Symptomen wie Ödemen, Müdigkeit und Kurzatmigkeit. Sie ist in der Regel sekundär zu einer Eosinophilie-assoziierten Gewebeschädigung und steht im Zusammenhang mit idiopathischem hypereosinophilem Syndrom, chronischer eosinophiler Leukämie, Karzinom oder Lymphom."},"es":{"name":"Endocarditis de Loeffler","synonyms":["Endocarditis eosinofílica"],"definition":"Es una miocardiopatía restrictiva poco frecuente caracterizada por hipereosinofilia y engrosamiento fibrótico del endocardio, habitualmente con trombos grandes en la pared ventricular, que puede dar lugar a complicaciones cardiovasculares como insuficiencia cardiaca y tromboembolia. Se manifiesta con síntomas como edema, cansancio y disnea. Suele ser secundaria a lesiones tisulares eosinofíicas, y se asocia al síndrome hipereosinofílico idiopático, a la leucemia eosinofílica, a un carcinoma o a un linfoma."},"it":{"name":"Endocardite di Loeffler","synonyms":["Endocardite eosinofila"],"definition":"L'encocardite di Loeffler è una cardiomiopatia restrittiva (si veda questo termine) rara, caratterizzata da ipereosinofilia e ispessimento fibroso dell'endocardio, associati a trombi di solito estesi sulle pareti ventricolari, che possono portare a complicazioni cardiovascolari come l'insufficienza cardiaca e il tromboembolismo. Si manifesta con edema, affaticamento e respiro corto. È di solito secondaria ad un danno tissutale correlato agli eosinofili, che si associa alla sindrome ipereosinofila idiopatica, alla leucemia eosinofila cronica (si vedano questi termini), al carcinoma o al linfoma."},"nl":{"name":"Loeffler-endocarditis","synonyms":["Eosinofiele endocarditis"],"definition":"Een zeldzame restrictieve cardiomyopathie, gekenmerkt door hypereosinofilie en fibreuze verdikking van endocard, met meestal grote trombi tegen ventrikelwand, wat kan leiden tot cardiovasculaire complicaties zoals hartfalen en trombo-embolie. Het manifesteert zich met symptomen als oedeem, vermoeidheid en kortademigheid. Het is meestal secundair aan eosinofiel-geassocieerde beschadiging van weefsel, en is geassocieerd met idiopathisch hypereosinofiel syndroom, chronische eosinofiele leukemie, carcinoom, of lymfoom."},"pt":{"name":"Endocardite de Loeffler","synonyms":["Endocardite eosínofílica"]},"pl":{"name":"Zapalenie wsierdzia Loefflera","synonyms":["Eozynofilowe zapalenie wsierdzia"],"definition":"Rzadka kardiomiopatia restrykcyjna, która charakteryzuje się hipereozynofilią i włóknistym pogrubieniem wsierdzia, zwykle z obecnością dużych skrzeplin przy ścianach komór, co może prowadzić do powikłań sercowo-naczyniowych, takich jak niewydolność serca i choroba zakrzepowo-zatorowa. Objawy kliniczne to obrzęki, zmęczenie i duszność. Choroba jest zwykle stanem wtórnym do eozynofilowego uszkodzenia tkanek i jest powiązana z idiopatycznym zespołem hipereozynofilowym, przewlekłą białaczką eozynofilową, rakiem lub chłoniakiem."},"cs":{"name":"Löfflerova endokarditida","synonyms":["Eozinofilní endokarditida"]},"uk":{"name":"Ендокардит Леффлера","synonyms":["Еозинофільний ендокардит"],"definition":"A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma."},"zh":{"name":"嗜酸细胞增多性心肌心内膜炎","synonyms":["嗜酸性粒细胞增多性心内膜炎"]},"tr":{"name":"Loeffler endokarditi","synonyms":["Eozinofilik endokardit"]}},"xrefs":[{"source":"ICD-10","code":"I42.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"BC43.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1223390562"},{"source":"MONDO","code":"0019159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206143","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217720,"name":"Non-familial restrictive cardiomyopathy","classifications":[146]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","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":"2021-09-21","source":"32999784[PMID]_33117933[PMID]_33129649[PMID]_30521271[PMID]","terms":[{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031323","label":"Myocardial eosinophilic infiltration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031331","label":"Abnormal cardiomyocyte morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025168","label":"Left ventricular diastolic dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025523","label":"Abnormal morphology of the chordae tendinae of the mitral valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031442","label":"Abnormal tricuspid chordae tendinae morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006685","label":"Endocardial fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031295","label":"Left atrial enlargement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001685","label":"Myocardial fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010872","label":"T-wave inversion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Very rare (<4-1%)","criteria":null}]}}