{"orpha":217656,"name":"Inherited isolated arrhythmogenic cardiomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217656/","orphanet_url":"https://www.orpha.net/en/disease/detail/217656","names":{"fr":{"name":"Cardiomyopathie arythmogène héréditaire isolée","definition":"La dysplasie ventriculaire droite arythmogène familiale isolée (DVDA) est la forme familiale autosomique dominante de DVDA, une maladie cardiomusculaire caractérisée par des arythmies ventriculaires avec configuration en bloc de branche gauche, mettant en jeu le pronostic vital. Elle peut se manifester manifeste par des palpitations, une tachycardie ventriculaire, une syncope et des crises cardiaques subites et fatales. Elle est due à une dystrophie et au remplacement fribo-lipidique du myocarde ventriculaire droit, ce qui peut conduire à des anévrismes ventriculaires droits."},"de":{"name":"Hereditäre isolierte arrhythmogene Kardiomyopathie","synonyms":["Familiäre isolierte ACM"],"definition":"Die Familiäre isolierte arrhythmogene rechtsventrikuläre Dysplasie (ARVC) ist die autosomal-dominant vererbte Form der ARVC (s. diesen Terminus). Diese Erkrankung des Myokards ist gekennzeichnet durch lebensbedrohliche, unter dem Muster eines Linksschenkelblocks ablaufende Kammerarrhythmien. Symptome sind Palpitationen, Kammertachykardie, Synkope und plötzliche fatale Krisen. Ursachen sind Dystrophie und Ersatz von Bindegewebe durch Fettgewebe im Myokard des rechten Ventrikels. Eine mögliche Folge sind rechtsventrikuläre Aneurysmen."},"es":{"name":"Miocardiopatía arritmogénica aislada hereditaria","synonyms":["Cardiomiopatía arritmogénica aislada hereditaria"],"definition":"La displasia arritmogénica familiar aislada del ventrículo derecho (ARVC) es la forma familiar autosómica dominante de la ARVC (ver este término), una enfermedad del músculo cardiaco caracterizada por arritmias ventriculares potencialmente mortales con configuración de bloqueo de rama izquierda, que se puede manifestar con palpitaciones, taquicardia ventricular, síncope y eventos súbitos letales, y que es causada por distrofia y reemplazo fibroadiposo del miocardio ventricular derecho que puede conducir a la formación de aneurismas ventriculares derechos."},"it":{"name":"Cardiomiopatia aritmogena isolata ereditaria","synonyms":["ACM","Displasia del ventricolo destro aritmogena isolata familiare"],"definition":"La displasia aritmogena isolata familiare del ventricolo destro (ARVC) è la forma familiare autosomica dominante della ARVC (si veda questo termine), una malattia del muscolo cardiaco, caratterizzata da aritmie ventricolari potenzialmente letali, con configurazione tipo blocco di branca sinistro, che può presentarsi con palpitazioni, tachicardia ventricolare, sincope e attacchi letali improvvisi, che è dovuta ad una distrofia con sostituzione fibro-lipidica del miocardio del ventricolo destro, che può esitare in aneurismi del ventricolo destro."},"nl":{"name":"Erfelijke geïsoleerde aritmogene cardiomyopathie","definition":"Familiale geïsoleerde aritmogene rechterventrikeldysplasie (ARVD) is de familiale autosomaal dominante vorm van ARVC (zie deze term), een ziekte van de hartspier die wordt gekenmerkt door levensbedreigende ventrikelaritmieën met linkerbundeltakblok-configuratie die zich kunnen manifesteren met hartkloppingen, ventriculaire tachycardie, syncope en plotselinge dodelijke aanvallen en die het gevolg zijn van dystrofie en vervanging van spiervezels door vet van het rechterventrikelmyocard wat kan leiden tot aneurysmata in de rechterventrikel."},"pt":{"name":"Cardiomiopatia arritmogénica isolada hereditária"},"pl":{"name":"Rodzinna izolowana arytomogenna dysplazja prawej komory","synonyms":["Rodzinna izolowana ARVC","Rodzinna izolowana ARVD","Rodzinna izolowana arytomogenna dysplazja komorowa","Rodzinna izolowana arytomogenna kardiomiopatia komorowa","Rodzinna izolowana arytomogenna kardiomiopatia prawej komory"]},"cs":{"name":"Familiární izolovaná arytmogenní dysplázie pravé komory","synonyms":["Familiární izolovaná ARVC","Familiární izolovaná arytmogenní kardiomyopatie pravé komory","Familiární izolovaná arytmogenní komorová kardiomyopatie","Familiární izolovaná arytmogenní komorová dysplázie"]},"uk":{"name":"Спадкова ізольована аритмогенна кардіоміопатія","synonyms":["ACM","Сімейна ізольована аритмогенна дисплазія правого шлуночка"],"definition":"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms."},"zh":{"name":"家族性孤立性心律失常性右心室发育不良","synonyms":["家族性孤立性心律失常性右室心肌病"],"definition":"家族性孤立性心律失常性右心室发育不良（ARVC）是一种家族性常染色体显性遗传型ARVC（见该词条），是一种心脏肌肉疾病，其特征是致命性室性心律失常，伴有左束支传导阻滞，可表现为心悸、室性心动过速，晕厥和猝死性发作，这是由于右心室肌营养不良和被纤维脂肪替代，可能导致右心室动脉瘤。"},"tr":{"name":"Ailesel izole aritmojenik sağ ventrikül displazisi","synonyms":["Ailesel izole ARVC","Ailesel izole ARVD","Ailesel izole aritmojenik ventriküler displazi","Ailesel izole aritmojenik ventriküler kardiyomiyopati","Ailesel izole aritmojenik sağ ventriküler kardiyomiyopati"]}},"xrefs":[{"source":"OMIM","code":"107970","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"602086","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602087","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604401","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607450","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610193","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610476","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611528","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615616","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"460188584"},{"source":"MONDO","code":"0016342","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274968","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":247,"name":"Inherited arrhythmogenic cardiomyopathy","classifications":[146,156,233]},{"orpha":300755,"name":"Laminopathy with striated muscle involvement","classifications":[156]}],"children":[{"orpha":293888,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant","type":"Clinical subtype"},{"orpha":293910,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant","type":"Clinical subtype"},{"orpha":293899,"name":"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"TMEM43","name":"transmembrane protein 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301310[PMID]","hgnc":"28472","ensembl":"ENSG00000170876","omim":"612048","loci":["3p25.1"],"via":{"orpha":293888,"name":"Inherited isolated arrhythmogenic 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variant"}},{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":"23736219[PMID]_22199124[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"],"via":{"orpha":293899,"name":"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant"}},{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":"23736219[PMID]_22199124[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"],"via":{"orpha":293910,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"}},{"symbol":"PKP2","name":"plakophilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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variant"}},{"symbol":"PLN","name":"phospholamban","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25820315[PMID]","hgnc":"9080","ensembl":"ENSG00000198523","omim":"172405","loci":["6q22.31"],"via":{"orpha":293910,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"}},{"symbol":"TAX1BP3","name":"Tax1 binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39963794[PMID]","hgnc":"30684","ensembl":null,"omim":null,"loci":["17p13.2"],"via":{"orpha":293910,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"}},{"symbol":"TGFB3","name":"transforming growth factor beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"11769","ensembl":"ENSG00000119699","omim":"190230","loci":["14q24.3"],"via":{"orpha":293888,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant"}},{"symbol":"TGFB3","name":"transforming growth factor beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"11769","ensembl":"ENSG00000119699","omim":"190230","loci":["14q24.3"],"via":{"orpha":293899,"name":"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant"}},{"symbol":"TGFB3","name":"transforming growth factor beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"11769","ensembl":"ENSG00000119699","omim":"190230","loci":["14q24.3"],"via":{"orpha":293910,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"}},{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21810661[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"],"via":{"orpha":293910,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"}}],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}