{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:14:12Z","timestamp":1774646052695,"version":"3.50.1"},"reference-count":74,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T00:00:00Z","timestamp":1584921600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease characterized by a scarred ventricular myocardium with a distinctive propensity to ventricular arrhythmias (VAs) and sudden cardiac death, especially in young athletes. Arrhythmogenic right ventricular cardiomyopathy (ARVC) represents the best characterized variant of AC, with a peculiar genetic background, established diagnostic criteria and management guidelines; however, the identification of nongenetic causes of the disease, combined with the common demonstration of biventricular and left-dominant forms, has led to coin the term of \u201carrhythmogenic cardiomyopathy\u201d, to better define the broad spectrum of the disease phenotypic expressions. The genetic basis of AC are pathogenic mutations in genes encoding the cardiac desmosomes, but also non-desmosomal and nongenetic variants were reported in patients with AC, some of which showing overlapping phenotypes with other non-ischemic diseases. The natural history of AC is characterized by VAs and progressive deterioration of cardiac performance. Different phases of the disease are recognized, each characterized by pathological and clinical features. Arrhythmic manifestations are age-related: Ventricular fibrillation and SCD are more frequent in young people, while sustained ventricular tachycardia is more common in the elderly, depending on the different nature of the myocardial lesions. This review aims to address the genetic basis, the clinical course and the phenotypic variants of AC.<\/jats:p>","DOI":"10.3390\/jcm9030878","type":"journal-article","created":{"date-parts":[[2020,3,24]],"date-time":"2020-03-24T13:04:04Z","timestamp":1585055044000},"page":"878","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Natural History of Arrhythmogenic Cardiomyopathy"],"prefix":"10.3390","volume":"9","author":[{"given":"Giulia","family":"Mattesi","sequence":"first","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3578-0583","authenticated-orcid":false,"given":"Alessandro","family":"Zorzi","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Corrado","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Cipriani","sequence":"additional","affiliation":[{"name":"Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, 35128 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e301","DOI":"10.1016\/j.hrthm.2019.05.007","article-title":"2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy","volume":"16","author":"Towbin","year":"2019","journal-title":"Heart Rhythm"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1056\/NEJM198801213180301","article-title":"Right ventricular cardiomyopathy and sudden death in young people","volume":"318","author":"Thiene","year":"1988","journal-title":"N. Engl. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1161\/01.CIR.65.2.384","article-title":"Right ventricular dysplasia: A report of 24 adult cases","volume":"65","author":"Marcus","year":"1982","journal-title":"Circulation"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1056\/NEJMra1509267","article-title":"Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"376","author":"Corrado","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1161\/CIRCULATIONAHA.108.840827","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: Proposed modification of the task force criteria","volume":"121","author":"Marcus","year":"2010","journal-title":"Circulation"},{"key":"ref_6","first-page":"3227","article-title":"Treatment of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: An international task force consensus statement","volume":"36","author":"Corrado","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_7","unstructured":"Corrado, D., Van Tintelen, P.J., McKenna, W.J., Hauer, R., Anastastakis, A., Asimaki, A., Basso, C., Bauce, B., Brunckhorst, C., and Bucciarelli-Ducci, C. (2019). Arrhythmogenic right ventricular cardiomyopathy: Evaluation of the current diagnostic criteria and differential diagnosis. Eur. Heart J., 1\u201316."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1016\/S0140-6736(00)02379-5","article-title":"Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)","volume":"355","author":"McKoy","year":"2000","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1086\/344208","article-title":"Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy","volume":"71","author":"Rampazzo","year":"2002","journal-title":"Am. J. Hum. Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/ng1461","article-title":"Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy","volume":"36","author":"Gerull","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1161\/CIRCULATIONAHA.105.583674","article-title":"Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy","volume":"113","author":"Pilichou","year":"2006","journal-title":"Circulation"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1086\/509122","article-title":"Arrhythmogenic right ventricular dysplasia\/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2","volume":"79","author":"Syrris","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1093\/eurheartj\/ehi341","article-title":"Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations","volume":"26","author":"Bauce","year":"2005","journal-title":"Eur. Heart J."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1161\/CIRCULATIONAHA.106.660241","article-title":"Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia\/ cardiomyopathy provides novel insights into patterns of disease expression","volume":"115","author":"Syrris","year":"2007","journal-title":"Circulation"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1093\/eurheartj\/ehl095","article-title":"Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: An electron microscopy investigation on endomyocardial biopsies","volume":"27","author":"Basso","year":"2006","journal-title":"Eur. Heart J."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1093\/cvr\/cvx150","article-title":"Arrhythmogenic cardiomyopathy: Pathology, genetics, and concepts in pathogenesis","volume":"113","author":"Hoorntje","year":"2017","journal-title":"Cardiovasc. Res."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1172\/JCI27751","article-title":"Suppression of canonical Wnt\/ beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy","volume":"116","author":"Lombardi","year":"2006","journal-title":"J. Clin. Investig."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1161\/CIRCRESAHA.109.201418","article-title":"Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes","volume":"105","author":"Sato","year":"2009","journal-title":"Circ. Res."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1093\/cvr\/cvs219","article-title":"Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes","volume":"95","author":"Rizzo","year":"2012","journal-title":"Cardiovasc. Res."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Corrado, D., Zorzi, A., Cerrone, M., Rigato, I., Mongillo, M., Bauce, B., and Delmar, M. (2016). Relationship between arrhythmogenic right ventricular cardiomyopathy and Brugada syndrome: New insights from molecular biology and clinical implications. Circ. Arrhythm. Electrophysiol., 9.","DOI":"10.1161\/CIRCEP.115.003631"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/j.cardiores.2004.10.005","article-title":"Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1","volume":"65","author":"Beffagna","year":"2005","journal-title":"Cardiovasc. Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.ajhg.2008.01.010","article-title":"Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene","volume":"82","author":"Merner","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1007\/s00439-013-1323-2","article-title":"TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations","volume":"132","author":"Baskin","year":"2013","journal-title":"Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1093\/eurheartj\/ehs373","article-title":"Mutations in the area composita protein \u03b1T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy","volume":"34","author":"Calore","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"e001605","DOI":"10.1161\/CIRCGENETICS.116.001605","article-title":"Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy","volume":"10","author":"Mayosi","year":"2017","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/chd.12462","article-title":"Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy","volume":"12","author":"Turkowski","year":"2017","journal-title":"Congenit. Heart Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1093\/eurheartj\/ehr451","article-title":"Mutations in the Lamin A\/C gene mimic arrhythmogenic right ventricular cardiomyopathy","volume":"33","author":"Quarta","year":"2012","journal-title":"Eur. Heart J."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1161\/CIRCULATIONAHA.117.028719","article-title":"Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy\/Dysplasia","volume":"137","author":"Carriel","year":"2018","journal-title":"Circulation"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Segura-Rodr\u00edguez, D., Berm\u00fadez-Jim\u00e9nez, F.J., Carriel, V., L\u00f3pez-Fern\u00e1ndez, S., Gonz\u00e1lez-Molina, M., Oyonarte Ram\u00edrez, J.M., Fern\u00e1ndez-Navarro, L., Garc\u00eda-Roa, M.D., Cabrerizoal, E.M., and Durand-Herrera, D. (2019). Myocardial fibrosis in arrhythmogenic cardiomyopathy: A genotype-phenotype correlation study. Eur. Heart J. Cardiovasc. Imaging.","DOI":"10.1093\/ehjci\/jez277"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Augusto, J.B., Eiros, R., Nakou, E., Moura-Ferreira, S., Treibel, T.A., Captur, G., Akhtar, M.A., Protonotarios, A., Gossios, T.D., and Sawatis, K. (2019). Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: A comprehensive genotype-imaging phenotype study. Eur. Heart J. Cardiovasc. Imaging.","DOI":"10.1093\/ehjci\/jez188"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","article-title":"Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies","volume":"68","author":"Cuenca","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1093\/eurjhf\/hfs119","article-title":"Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: Evidence supporting the concept of arrhythmogenic cardiomyopathy","volume":"14","author":"Asimaki","year":"2012","journal-title":"Eur. J. Heart Fail."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1016\/j.hrthm.2017.03.034","article-title":"Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies","volume":"14","author":"Sepehrkhouy","year":"2017","journal-title":"Heart Rhythm"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1161\/CIRCGENETICS.114.001003","article-title":"Clinical presentation, longterm follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia\/cardiomyopathy patients and family members","volume":"8","author":"Groeneweg","year":"2015","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"e005324","DOI":"10.1161\/CIRCEP.117.005324","article-title":"Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients","volume":"10","author":"Pilichou","year":"2017","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.jacc.2009.11.020","article-title":"Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy","volume":"55","author":"Xu","year":"2010","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Koenig, E., Volpato, C.B., Motta, B.M., Blakenburg, H., Picard, A., Pramstaller, P., Casella, M., Rauhe, W., Pompilio, G., and Meraviglia, V. (2017). Exploring digenic inheritance in arrhythmogenic cardiomyopathy. BMC Med. Genet., 18.","DOI":"10.1186\/s12881-017-0503-7"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1161\/CIRCGENETICS.113.000288","article-title":"Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene related arrhythmogenic right ventricular cardiomyopathy","volume":"6","author":"Rigato","year":"2013","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1038\/s41431-018-0169-4","article-title":"Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database","volume":"26","author":"Hall","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1016\/j.jacc.2010.12.036","article-title":"Distinguishing arrhythmogenic right ventricular cardiomyopathy\/dysplasia-associated mutations from background genetic noise","volume":"57","author":"Kapplinger","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1016\/j.jacc.2013.06.033","article-title":"Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia\/cardiomyopathy-associated desmosomal mutation carriers","volume":"62","author":"James","year":"2013","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1016\/S0735-1097(00)00997-9","article-title":"Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy","volume":"3","author":"Nava","year":"2000","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1093\/europace\/euv205","article-title":"Phenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy","volume":"18","author":"Zorzi","year":"2016","journal-title":"Europace"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"3084","DOI":"10.1161\/01.CIR.0000103130.33451.D2","article-title":"Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy\/dysplasia","volume":"108","author":"Corrado","year":"2003","journal-title":"Circulation"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1016\/j.jacc.2016.09.951","article-title":"Arrhythmogenic right ventricular cardiomyopathy. Clinical course and predictors of arrhythmic risk","volume":"23","author":"Mazzanti","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/j.jcmg.2018.05.017","article-title":"Prediction of Life-Threatening Ventricular Arrhythmia in Patients with Arrhythmogenic Cardiomyopathy: A Primary Prevention Cohort Study","volume":"11","author":"Lie","year":"2018","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1093\/eurheartj\/ehu509","article-title":"Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia\/cardiomyopathy-associated mutation carriers","volume":"36","author":"Bhonsale","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.hrthm.2017.02.013","article-title":"Cardiac Phenotype and Long Term Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy\/Dysplasia Patients with Late Presentation","volume":"14","author":"Bhonsale","year":"2017","journal-title":"Heart Rhythm"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1161\/CIRCEP.111.974881","article-title":"Prognostic value of endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy\/dysplasia","volume":"6","author":"Migliore","year":"2013","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1093\/eurheartj\/12.suppl_D.22","article-title":"Right ventricular cardiomyopathy: Is there evidence of an inflammatory aetiology?","volume":"12","author":"Thiene","year":"1991","journal-title":"Eur. Heart J."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1161\/01.CIR.94.5.983","article-title":"Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis?","volume":"94","author":"Basso","year":"1996","journal-title":"Circulation"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/j.hrthm.2015.01.001","article-title":"Genetics of Myocarditis in Arrhyhtmogenic Right Ventricular Dysplasia","volume":"12","author":"Gimeno","year":"2015","journal-title":"Heart Rhythm"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1136\/jcp.53.5.382","article-title":"No detection of enteroviral genome in the myocardium of patients with arrhythmogenic right ventricular cardiomyopathy","volume":"53","author":"Calabrese","year":"2000","journal-title":"J. Clin. Pathol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1084\/jem.20090641","article-title":"Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy","volume":"206","author":"Pilichou","year":"2009","journal-title":"J. Exp. Med."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"3932","DOI":"10.1093\/eurheartj\/ehy567","article-title":"An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis","volume":"39","author":"Chatterjee","year":"2018","journal-title":"Eur. Heart J."},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Caforio, A.L.P., Re, F., Avella, A., Marcolongo, R., Baratta, P., Seguso, M., Gallo, N., Plebani, M., Izquierdo Bajo, A., and Cheng, C.Y. (2020). Evidence from Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies with Disease Severity and Family History. Circulation.","DOI":"10.1161\/CIRCULATIONAHA.119.043931"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1093\/cvr\/cvs218","article-title":"Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency","volume":"95","author":"Cerrone","year":"2012","journal-title":"Cardiovasc. Res."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1161\/CIRCULATIONAHA.113.003077","article-title":"Missense mutations in plakophilin-2 cause sodium current deficit and associate with a brugada syndrome phenotype","volume":"129","author":"Cerrone","year":"2014","journal-title":"Circulation"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1056\/NEJMoa1510687","article-title":"A Prospective Study of Sudden Cardiac Death among Children and Young Adults","volume":"374","author":"Bagnal","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"e009855","DOI":"10.1161\/JAHA.118.009855","article-title":"Relationship Between Electrocardiographic Findings and Cardiac Magnetic Resonance Phenotypes in Arrhythmogenic Cardiomyopathy","volume":"7","author":"Zorzi","year":"2018","journal-title":"J. Am. Heart Assoc."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1161\/CIRCULATIONAHA.118.037230","article-title":"Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy","volume":"139","author":"Miles","year":"2019","journal-title":"Circulation"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1016\/j.jacc.2008.09.019","article-title":"Left-dominant arrhythmogenic cardiomyopathy: An under-recognized clinical entity","volume":"52","author":"Syrris","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Cipriani, A., Bauce, B., De Lazzari, M., Rigato, I., Bariani, R., Meneghin, S., Pilichou, K., Motta, R., Aliberti, C., and Thiene, G. (2020). Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis with Dilated Cardiomyopathy. J. Am. Heart Assoc.","DOI":"10.1161\/JAHA.119.014628"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"e004229","DOI":"10.1161\/CIRCEP.116.004229","article-title":"Nonischemic Left Ventricular Scar as a Substrate of Life-Threatening Ventricular Arrhythmias and Sudden Cardiac Death in Competitive Athletes","volume":"9","author":"Zorzi","year":"2016","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1016\/j.jacc.2003.03.002","article-title":"Does sports activity enhance the risk of sudden death in adolescents and young adults?","volume":"42","author":"Corrado","year":"2003","journal-title":"J. Am. Coll. Cardiol"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1093\/eurheartj\/ehv110","article-title":"Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: Results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy","volume":"36","author":"Ruwald","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1161\/CIRCULATIONAHA.106.624502","article-title":"Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice","volume":"114","author":"Kirchhof","year":"2006","journal-title":"Circulation"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"e001471","DOI":"10.1161\/JAHA.114.001471","article-title":"Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia\/cardiomyopathy in patients without desmosomal mutations","volume":"3","author":"Sawant","year":"2014","journal-title":"J. Am. Heart Assoc."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.jacep.2018.01.010","article-title":"Harmful Effects of Exercise Intensity and Exercise Duration in Patients with Arrhythmogenic Cardiomyopathy","volume":"4","author":"Lie","year":"2018","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1111\/jce.13668","article-title":"Arrhythmic outcome of arrhythmogenic right ventricular cardiomyopathy patients without implantable defibrillators","volume":"29","author":"Wang","year":"2018","journal-title":"J. Cardiovasc. Electrophysiol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1002\/ejhf.181","article-title":"Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members","volume":"16","author":"Saberniak","year":"2014","journal-title":"Eur. J. Heart Fail."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1001\/jama.296.13.1593","article-title":"Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program","volume":"296","author":"Corrado","year":"2006","journal-title":"JAMA"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1093\/eurheartj\/ehi325","article-title":"Recommendations for competitive sports participation in athletes with cardiovascular disease: A consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology","volume":"26","author":"Pelliccia","year":"2005","journal-title":"Eur. Heart J."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1016\/j.jacc.2015.09.035","article-title":"Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement from the American Heart Association and American College of Cardiology","volume":"66","author":"Maron","year":"2015","journal-title":"J. Am. Coll. Cardiol."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/3\/878\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:10:51Z","timestamp":1760173851000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/3\/878"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,23]]},"references-count":74,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,3]]}},"alternative-id":["jcm9030878"],"URL":"https:\/\/doi.org\/10.3390\/jcm9030878","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,23]]}}}