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Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, et al. Arrhythmogenic right ventricular cardiomyopathy. <i>JACC Clin Electrophysiol<\/i> 2022; 8: 533\u2013553.","DOI":"10.1016\/j.jacep.2021.12.002"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Asimaki A, Saffitz JE. The role of endomyocardial biopsy in ARVC: Looking beyond histology in search of new diagnostic markers. <i>J Cardiovasc Electrophysiol<\/i> 2011; 22: 111\u2013117.","DOI":"10.1111\/j.1540-8167.2010.01960.x"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: Proposed modification of the Task Force Criteria. <i>Eur Heart J<\/i> 2010; 31: 806\u2013814.","DOI":"10.1093\/eurheartj\/ehq025"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Imai Y, Kusano K, Aiba T, Ako J, Asano Y, Harada-Shiba M, et al. JCS\/JCC\/JSPCCS 2024 Guideline on genetic testing and counseling in cardiovascular disease. <i>Circ J<\/i> 2024; 88: 2022\u20132099.","DOI":"10.1253\/circj.CJ-23-0926"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, et al. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. <i>J Am Coll Cardiol<\/i> 2010; 55: 587\u2013597.","DOI":"10.1016\/j.jacc.2009.11.020"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Wada Y, Ohno S, Aiba T, Horie M. Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia\/cardiomyopathy. <i>Mol Genet Genom Med<\/i> 2017; 5: 639\u2013651.","DOI":"10.1002\/mgg3.311"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. 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Natural history and clinical outcomes of patients with DSG2\/DSC2 variant-related arrhythmogenic right ventricular cardiomyopathy. <i>Circulation<\/i> 2025; 151: 1213\u20131230.","DOI":"10.1161\/CIRCULATIONAHA.124.072226"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Sonoda K, Nagase S, Aiba T, Kato K, Fukuyama M, Kikuchi N, et al. Homozygous or compound heterozygous variants in DSG2 are mainly causative of Japanese arrhythmogenic right ventricular cardiomyopathy. <i>Eur Heart J<\/i> 2023; 44: ehad655.612.","DOI":"10.1093\/eurheartj\/ehad655.612"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Eshkind L, Tian Q, Schmidt A, Franke WW, Windoffer R, Leube RE. Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells. <i>Eur J Cell Biol<\/i> 2002; 81: 592\u2013598.","DOI":"10.1078\/0171-9335-00278"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Schlipp A, Schinner C, Spindler V, Vielmuth F, Gehmlich K, Syrris P, et al. Desmoglein-2 interaction is crucial for cardiomyocyte cohesion and function. <i>Cardiovasc Res<\/i> 2014; 104: 245\u2013257.","DOI":"10.1093\/cvr\/cvu206"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Pilichou K, Remme CA, Basso C, Campian ME, Rizzo S, Barnett P, et al. Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. <i>J Exp Med<\/i> 2009; 206: 1787\u20131802.","DOI":"10.1084\/jem.20090641"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Rizzo S, Lodder EM, Verkerk AO, Wolswinkel R, Beekman L, Pilichou K, et al. Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes. <i>Cardiovasc Res<\/i> 2012; 95: 409\u2013418.","DOI":"10.1093\/cvr\/cvs219"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Kant S, Holthofer B, Magin TM, Krusche CA, Leube RE. Desmoglein 2-dependent arrhythmogenic cardiomyopathy is caused by a loss of adhesive function. <i>Circ Cardiovasc Genet<\/i> 2015; 8: 553\u2013563.","DOI":"10.1161\/CIRCGENETICS.114.000974"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Zhang B, Wu Y, Zhou C, Xie J, Zhang Y, Yang X, et al. Hyperactivation of ATF4\/TGF-\u03b21 signaling contributes to the progressive cardiac fibrosis in arrhythmogenic cardiomyopathy caused by DSG2 Variant. <i>BMC Med<\/i> 2024; 22: 361.","DOI":"10.1186\/s12916-024-03593-8"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Tariq H, Bella J, Jowitt TA, Holmes DF, Rouhi M, Nie Z, et al. Cadherin flexibility provides a key difference between desmosomes and adherens junctions. <i>Proc Natl Acad Sci U S A<\/i> 2015; 112: 5395\u20135400.","DOI":"10.1073\/pnas.1420508112"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy\/dysplasia-associated mutations from background genetic noise. <i>J Am Coll Cardiol<\/i> 2011; 57: 2317\u20132327.","DOI":"10.1016\/j.jacc.2010.12.036"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Bradford WH, Zhang J, Gutierrez-Lara EJ, Liang Y, Do A, Wang TM, et al. Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics. <i>Nat Cardiovasc Res<\/i> 2023; 2: 1246\u20131261.","DOI":"10.1038\/s44161-023-00370-3"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Hermida A, Fressart V, Hidden-Lucet F, Donal E, Probst V, Deharo JC, et al. High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy\/dysplasia. <i>Eur J Heart Fail<\/i> 2019; 21: 792\u2013800.","DOI":"10.1002\/ejhf.1423"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Kitaoka H, Ieda M, Ebato M, Kozuma K, Takayama M, Tanno K, et al. Phase 3 open-label study evaluating the efficacy and safety of mavacamten in Japanese adults with obstructive hypertrophic cardiomyopathy: The HORIZON-HCM study. <i>Circ J<\/i> 2025; 89: 130\u2013138.","DOI":"10.1253\/circj.CJ-24-0501"}],"container-title":["Circulation Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/circj\/90\/1\/90_CJ-25-0269\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T03:18:25Z","timestamp":1766805505000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/circj\/90\/1\/90_CJ-25-0269\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,25]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1253\/circj.cj-25-0269","relation":{},"ISSN":["1346-9843","1347-4820"],"issn-type":[{"type":"print","value":"1346-9843"},{"type":"electronic","value":"1347-4820"}],"subject":[],"published":{"date-parts":[[2025,12,25]]},"article-number":"CJ-25-0269"}}