{"orpha":2022,"name":"Endocardial fibroelastosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Endomyocardial fibroelastosis"],"definition":"A rare cardiac disease characterized by thickening of the endocardium due to deposition of collagen and elastic fibers and leading to dilated cardiomyopathy-like phenotypes more often than to restrictive forms. It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2022/","orphanet_url":"https://www.orpha.net/en/disease/detail/2022","names":{"fr":{"name":"Fibroélastose endocardique","synonyms":["Fibroélastose endomyocardique"],"definition":"Maladie cardiaque rare caractérisée par un épaississement de l'endocarde dû à un dépôt de collagène et de fibres élastiques, plus souvent à l'origine de phénotypes de type cardiomyopathie dilatée que de formes restrictives. Observée principalement chez le nourrisson et l'enfant, la maladie peut survenir de manière isolée ou en association avec des maladies cardiaques congénitales."},"de":{"name":"Fibroelastose, endokardiale","synonyms":["Fibroelastose, endomyokardiale"],"definition":"Eine seltene Herzerkrankung, die durch eine Verdickung des Endokards aufgrund von Ablagerungen von Kollagen und elastischen Fasern gekennzeichnet ist und häufiger zu einer dilatativen Kardiomyopathie-ähnlichen Erscheinung als zu restriktiven Formen führt. Sie tritt vorwiegend bei Säuglingen und Kindern auf und kann als isolierte Störung oder in Verbindung mit angeborenen Herzerkrankungen beobachtet werden."},"es":{"name":"Fibroelastosis endocárdica","synonyms":["Fibroelastosis endomiocárdica"],"definition":"Es una enfermedad cardíaca poco frecuente caracterizada por un engrosamiento del endocardio debido al depósito de colágeno y fibras elásticas y que conduce más frecuentemente a fenotipos similares a la miocardiopatía dilatada que a formas restrictivas. Ocurre predominantemente en lactantes y en niños y puede observarse como un trastorno aislado o en asociación con enfermedades cardíacas congénitas."},"it":{"name":"Fibroelastosi endomiocardica"},"nl":{"name":"Endocardiale fibro-elastose","synonyms":["Endomyocardiale fibro-elastose"],"definition":"Een zeldzame hartziekte, gekenmerkt door verdikking van endocardium door depositie van collageen en elastische vezels, en vaker resulterend in fenotypes gelijkend op gedilateerde cardiomyopathie dan in restrictieve vormen. De aandoening treedt hoofdzakelijk op bij zuigelingen en kinderen, en kan waargenomen worden als een geïsoleerde aandoening of in associatie met congenitale hartaandoeningen."},"pt":{"name":"Fibroelastose endocárdica","synonyms":["Fibroelastose endomiocárdica"],"definition":"Doença cardíaca rara caracterizada pelo espessamento do endocárdio devido à deposição de fibras colágenas e elásticas e originando fenótipos semelhantes a cardiomiopatia dilatada mais frequentemente do que formas restritivas. Ocorre predominantemente em recém-nascidos e crianças e pode ser observada como um doença isolada ou em associação com condições cardíacas congénitas."},"pl":{"name":"Zwłóknienie sprężyste wsierdzia","synonyms":["Endomyocardial fibroelastosis"],"definition":"Rzadka choroba serca charakteryzująca się pogrubieniem wsierdzia z powodu odkładania się włókien kolagenowych i elastycznych, manifestująca się częściej fenotypem podobnym do kardiomiopatii rozstrzeniowej niż restrykcyjnej. Występuje głównie u niemowląt i dzieci jako zaburzenie izolowane lub w połączeniu z wrodzonymi wadami serca."},"cs":{"name":"Endomyokardiální fibroelastóza","synonyms":["Endomyocardial fibroelastosis"]},"uk":{"name":"Фіброеластоз ендокарда","synonyms":["Фіброеластоз ендоміокарда"],"definition":"A rare cardiac disease characterized by thickening of the endocardium due to deposition of collagen and elastic fibers and leading to dilated cardiomyopathy-like phenotypes more often than to restrictive forms. It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions."},"zh":{"name":"心内膜弹力纤维增生症","synonyms":["心内膜心肌弹力纤维增生症"]},"tr":{"name":"Endokardiyal fibroelastoz","synonyms":["Endomiyokardiyal fibroelastoz"]}},"xrefs":[{"source":"OMIM","code":"226000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"BC43.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1971033419"},{"source":"MONDO","code":"0009169","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004695","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014117","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6336","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014663","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217629,"name":"Non-familial dilated cardiomyopathy","classifications":[146]},{"orpha":217720,"name":"Non-familial restrictive cardiomyopathy","classifications":[146]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Occasional (29-5%)","criteria":null}]}}