{"orpha":247,"name":"Inherited arrhythmogenic cardiomyopathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Arrhythmogenic cardiomyopathy","ACM"],"definition":"A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247/","orphanet_url":"https://www.orpha.net/en/disease/detail/247","names":{"fr":{"name":"Cardiomyopathie arythmogène héréditaire","synonyms":["Cardiomyopathie arythmogène"],"definition":"Maladie du muscle cardiaque qui consiste en une dystrophie progressive du myocarde ventriculaire progressivement remplacé par des infiltrats fibro-adipeux et en une dilatation ventriculaire, se manifestant sur le plan clinique par des arythmies ventriculaires et par un risque de mort subite."},"de":{"name":"Hereditäre arrhythmogene Kardiomyopathie","synonyms":["ACM","Arrhythmogene Kardiomyopathie"],"definition":"Die arrhythmogene rechtsventrikuläre Kardiomyopathie (ARVC) ist eine Herzmuskelerkrankung, die in einer fortschreitenden Dystrophie des primär rechtsventrikulären Myokards mit fibrösem Fettersatz und ventrikulärer Dilatation besteht und klinisch durch ventrikuläre Arrhythmien und ein Risiko des plötzlichen Herztodes gekennzeichnet ist."},"es":{"name":"Miocardiopatía arritmogénica hereditaria","synonyms":["Cardiomiopatía arritmogénica hereditaria","MCA"],"definition":"Es una enfermedad del músculo cardíaco consistente en una distrofia progresiva principalmente del miocardio ventricular derecho con reemplazo fibroadiposo y dilatación ventricular. Clínicamente está caracterizada por arritmias ventriculares y riesgo de muerte súbita cardíaca."},"it":{"name":"Cardiomiopatia aritmogena ereditaria","synonyms":["Cardiomiopatia aritmogena del ventricolo destro"]},"nl":{"name":"Erfelijke aritmogene cardiomyopathie","synonyms":["ACM","Aritmogene cardiomyopathie"],"definition":"Een hartspierziekte bestaande uit progressieve dystrofie, voornamelijk van het myocard van het rechterventrikel, met vervanging van hartspierweefsel door bind- en vetweefsel en dilatatie van het ventrikel, en klinisch gekarakteriseerd door ventriculaire aritmieën en een risico op plotse hartdood."},"pt":{"name":"Cardiomiopatia arritmogénica hereditária","synonyms":["ACM","Cardiomiopatia arritmogénica"],"definition":"A cardiomiopatia/displasia arritmogénica do ventrículo direito (ARVC/D) é uma doença do músculo cardíaco caracterizada clinicamente por arritmias ventriculares potencialmente fatais."},"pl":{"name":"Arytmogenna kardiomiopatia prawej komory","synonyms":["ARVC","ARVD","Arytmogenna dysplazja prawej komory","Wrodzona kardiomiopatia arytmogenna"]},"cs":{"name":"Arytmogenní kardiomyopatie pravé komory","synonyms":["ARVC","ARVD","Arytmogenní dysplázie pravé komory"]},"uk":{"name":"Спадкова аритмогенна кардіоміопатія","synonyms":["Аритмогенна кардіоміопатія правого шлуночка"],"definition":"A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death."},"zh":{"name":"心律失常性右室发育不良","synonyms":["致心律失常性右室发育不良"]},"tr":{"name":"Aritmojenik sağ ventriküler kardiyomiyopati","synonyms":["ARVC","ARVD","Aritmojenik sağ ventrikül displazisi"]}},"xrefs":[{"source":"ICD-11","code":"BC43.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"702771512"},{"source":"MONDO","code":"0016587","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16587","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019571","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0349788","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058093","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]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]},{"orpha":98054,"name":"Rare genetic cardiac disease","classifications":[156]}],"children":[{"orpha":217656,"name":"Inherited isolated arrhythmogenic cardiomyopathy","type":"Disease"},{"orpha":34217,"name":"Naxos disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":43.5,"area":"Italy","status":"Validated","source":"16585401[PMID]_Pr Cristina BASSO[EXPERT]_Dr Kalliopi PILICHOU[EXPERT]_Pr Domenico CORRADO[EXPERT]_Pr Gaetano THIENE[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Worldwide","status":"Validated","source":"23736219[PMID]"}],"phenotypes":null}