{"orpha":329874,"name":"Idiopathic giant cell myocarditis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IGCM"],"definition":"A rare cardiac disease characterized by rapidly progressing myocarditis of unknown origin that may lead to progressive heart failure, heart block, ventricular arrhythmias, or sudden cardiac death. It is histologically characterized by myocardial necrosis and fibrosis with multinucleated giant cells and inflammatory cell infiltrate. Some patients have associated autoimmune disorders. It is a high-mortality risk condition and patients often require a heart transplant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329874/","orphanet_url":"https://www.orpha.net/en/disease/detail/329874","names":{"fr":{"name":"Myocardite idiopathique à cellules géantes","synonyms":["IGCM","Myocardite idiopathique gigantocellulaire"],"definition":"Maladie cardiaque rare caractérisée par une myocardite d'origine inconnue évoluant rapidement, pouvant entraîner une insuffisance cardiaque progressive, un bloc cardiaque, des arythmies ventriculaires ou une mort cardiaque subite. Sur le plan histologique, elle se caractérise par une nécrose et une fibrose myocardiques associées à la présence de cellules géantes multinucléées et à un infiltrat cellulaire inflammatoire. Certains patients présentent des maladies auto-immunes associées. Il s'agit d'une maladie à haut risque de décès et les patients ont souvent besoin d'une transplantation cardiaque."},"de":{"name":"Riesenzell-Myokarditis, idiopathische","synonyms":["IGCM"],"definition":"Eine seltene Kardiomyopathie, die durch eine fortschreitende Myokarditis mit diffuser Infiltration des Herzgewebes durch Lymphozyten, Makrophagen, multinukleäre Riesenzellen und Myokardnekrose gekennzeichnet ist. Das klinische Bild umfasst eine rasch fortschreitende Herzinsuffizienz, ventrikuläre Arrhythmien, einen kompletten Herzblock und einen plötzlichen Herztod. Bei einigen Patienten treten begleitende Autoimmunerkrankungen auf."},"es":{"name":"Miocarditis idiopática de células gigantes","synonyms":["IGCM"],"definition":"Es una miocardiopatía poco frecuente caracterizada por miocarditis progresiva con infiltrado difuso de linfocitos, macrófagos, células gigantes multinucleadas en el tejido cardíaco, así como por necrosis miocárdica. La presentación clínica incluye insuficiencia cardíaca rápidamente progresiva, arritmias ventriculares, bloqueo cardíaco completo y muerte súbita cardíaca. Algunos afectados asocian trastornos autoinmunes."},"it":{"name":"Miocardite idiopatica a cellule giganti","synonyms":["IGCM"],"definition":"È una cardiomiopatia rara caratterizzata da miocardite progressiva associata ad infiltrazione diffusa del tessuto cardiaco da parte dei linfociti, dei macrofagi e di cellule giganti multinucleate, con necrosi miocardica. Il quadro clinico comprende l'insufficienza cardiaca a progressione rapida, le aritmie ventricolari, il blocco cardiaco completo, e la morte cardiaca improvvisa. Alcuni pazienti presentano malattie autoimmuni."},"nl":{"name":"Idiopathische reuscelmyocarditis","synonyms":["IGCM"],"definition":"Een zeldzame cardiomyopathie gekarakteriseerd door progressieve myocarditis met diffuse infiltratie van hartweefsel door lymfocyten, macrofagen en meerkernige reuscellen, en necrose van het myocard. Het klinisch beeld omvat snel progressief hartfalen, ventriculaire hartritmestoornissen, compleet hartblok, en plotse hartdood. Sommige patiënten hebben geassocieerde auto-immuunstoornissen."},"pt":{"name":"Miocardite idiopática de células gigantes","synonyms":["IGCM"]},"pl":{"name":"Idiopatyczne olbrzymiokomórkowe zapalenie mięśnia sercowego","synonyms":["IGCM"]},"cs":{"name":"Obrovskobuněčná myokarditida","synonyms":["IGCM"]},"uk":{"name":"Ідіопатичний гігантоклітинний міокардит","synonyms":["IGCM"],"definition":"A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders."},"zh":{"name":"特发性巨细胞心肌炎","synonyms":["IGCM"],"definition":"一种罕见的心肌病，以进行性心肌炎为特征，以淋巴细胞、巨噬细胞、多核巨细胞和心肌坏死弥漫性浸润为特征。临床表现包括快速进行性心力衰竭、室性心律失常、完全性心脏传导阻滞和心源性猝死。一些患者有相关的自身免疫性疾病。"},"tr":{"name":"İdiyopatik dev hücreli miyokardit","synonyms":["IGCM"]}},"xrefs":[{"source":"ICD-10","code":"I40.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC42.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"507103735"},{"source":"MONDO","code":"0018008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0264856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":167848,"name":"Rare cardiomyopathy","classifications":[146]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"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":"2026-03-27","source":"37734812[PMID]_33660520[PMID]_41558852[PMID]_33632487[PMID]_38431769[PMID]_28745125[PMID]_17916581[PMID]","terms":[{"hpo":"HP:0500016","label":"Abnormal cardiac MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410174","label":"Increased circulating troponin T concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:4000004","label":"Myocardial late gadolinium enhancement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031324","label":"Myocardial multinucleated giant cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031185","label":"Increased circulating NT-proBNP concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001685","label":"Myocardial fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001700","label":"Myocardial necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030149","label":"Cardiogenic shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:4000141","label":"Left ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null}]}}