{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:26:25Z","timestamp":1780471585914,"version":"3.54.1"},"reference-count":90,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,16]],"date-time":"2025-02-16T00:00:00Z","timestamp":1739664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["RN380020-406814"],"award-info":[{"award-number":["RN380020-406814"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008052","name":"Fundaci\u00f3n Alfonso Mart\u00edn Escudero","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008052","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","onlinecjc.ca","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Canadian Journal of Cardiology"],"published-print":{"date-parts":[[2025,6]]},"DOI":"10.1016\/j.cjca.2025.02.020","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T16:09:42Z","timestamp":1739549382000},"page":"1023-1037","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["New Insights Into Genetic Right Ventricular Cardiomyopathies"],"prefix":"10.1016","volume":"41","author":[{"given":"Marta","family":"Garcia-Montero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yehia","family":"Fanous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7982-1586","authenticated-orcid":false,"given":"Andrew D.","family":"Krahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brianna","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Cadrin-Tourigny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D.","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cjca.2025.02.020_bib1","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":"10.1016\/j.cjca.2025.02.020_bib2","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 Lond Engl"},{"key":"10.1016\/j.cjca.2025.02.020_bib3","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC Guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib4","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.120.003273","article-title":"International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the clinical genome resource framework","volume":"14","author":"James","year":"2021","journal-title":"Circ Genomic Precis Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib5","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1136\/jmedgenet-2021-107911","article-title":"Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy---risk of arrhythmias and heart failure","volume":"59","author":"Christensen","year":"2022","journal-title":"J Med Genet"},{"key":"10.1016\/j.cjca.2025.02.020_bib6","doi-asserted-by":"crossref","first-page":"3053","DOI":"10.1093\/eurheartj\/ehac235","article-title":"Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator","volume":"43","author":"Protonotarios","year":"2022","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib7","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/ejhf.1423","article-title":"High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy\/dysplasia","volume":"21","author":"Hermida","year":"2019","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.cjca.2025.02.020_bib8","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":"Sen-Chowdhry","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib9","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1161\/CIRCULATIONAHA.120.053033","article-title":"Evidence-based assessment of genes in dilated cardiomyopathy","volume":"144","author":"Jordan","year":"2021","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib10","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1093\/eurheartj\/ehae571","article-title":"Clinical features and outcomes in carriers of pathogenic desmoplakin variants","volume":"46","author":"Gasperetti","year":"2025","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib11","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/cge.12971","article-title":"Novel founder mutation in French-Canadian families with Naxos disease","volume":"92","author":"Marino","year":"2017","journal-title":"Clin Genet"},{"key":"10.1016\/j.cjca.2025.02.020_bib12","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.115.003589","article-title":"Long-term clinical outcome of arrhythmogenic right ventricular cardiomyopathy in individuals with a p.S358L mutation in TMEM43 following implantable cardioverter defibrillator therapy","volume":"9","author":"Hodgkinson","year":"2016","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib13","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/j.hrthm.2020.01.035","article-title":"Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5","volume":"17","author":"Dominguez","year":"2020","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.cjca.2025.02.020_bib14","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/s12471-018-1211-4","article-title":"Prevalence and cardiac phenotype of patients with a phospholamban mutation","volume":"27","author":"Hof","year":"2019","journal-title":"Neth Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib15","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1111\/j.1399-0004.2010.01512.x","article-title":"Desmin-related myopathy","volume":"80","author":"van Spaendonck-Zwarts","year":"2011","journal-title":"Clin Genet"},{"key":"10.1016\/j.cjca.2025.02.020_bib16","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.jacep.2024.02.031","article-title":"Phenotype and clinical outcomes in desmin-related arrhythmogenic cardiomyopathy","volume":"10","author":"Bermudez-Jimenez","year":"2024","journal-title":"JACC Clin Electrophysiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib17","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.120.003097","article-title":"Cadherin 2-related arrhythmogenic cardiomyopathy: prevalence and clinical features","volume":"14","author":"Ghidoni","year":"2021","journal-title":"Circ Genomic Precis Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib18","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":"Ortiz-Genga","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib19","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1136\/jmedgenet-2019-106394","article-title":"FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy","volume":"57","author":"Brun","year":"2020","journal-title":"J Med Genet"},{"key":"10.1016\/j.cjca.2025.02.020_bib20","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ijcard.2019.09.048","article-title":"Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype","volume":"307","author":"Hall","year":"2020","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib21","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1161\/CIRCULATIONAHA.121.053521","article-title":"Phenotypic expression, natural history, and risk stratification of cardiomyopathy caused by filamin C truncating variants","volume":"144","author":"Gigli","year":"2021","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib22","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.121.003530","article-title":"Arrhythmogenic right ventricular cardiomyopathy prevalence and arrhythmic outcomes in at-risk family members: a systematic review and meta-analysis","volume":"15","author":"Sharma","year":"2022","journal-title":"Circ Genomic Precis Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib23","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":"10.1016\/j.cjca.2025.02.020_bib24","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.jacc.2023.05.005","article-title":"Individualized family screening for arrhythmogenic right ventricular cardiomyopathy","volume":"82","author":"Muller","year":"2023","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib25","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1161\/CIRCGENETICS.114.001003","article-title":"Clinical presentation, long-term 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":"10.1016\/j.cjca.2025.02.020_bib26","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":"10.1016\/j.cjca.2025.02.020_bib27","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":"10.1016\/j.cjca.2025.02.020_bib28","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.122.003704","article-title":"Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population","volume":"15","author":"Bourfiss","year":"2022","journal-title":"Circ Genomic Precis Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib29","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.119.002579","article-title":"Prevalence and electronic health record-based phenotype of loss-of-function genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes","volume":"12","author":"Carruth","year":"2019","journal-title":"Circ Genomic Precis Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib30","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1093\/europace\/euaa105","article-title":"Exercise restriction is protective for genotype-positive family members of arrhythmogenic right ventricular cardiomyopathy patients","volume":"22","author":"Wang","year":"2020","journal-title":"Europace"},{"key":"10.1016\/j.cjca.2025.02.020_bib31","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":"10.1016\/j.cjca.2025.02.020_bib32","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":"10.1016\/j.cjca.2025.02.020_bib33","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.121.010221","article-title":"Integrating exercise into personalized ventricular arrhythmia risk prediction in arrhythmogenic right ventricular cardiomyopathy","volume":"15","author":"Bosman","year":"2022","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib34","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/j.hrthm.2020.02.028","article-title":"Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy","volume":"17","author":"Paulin","year":"2020","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.cjca.2025.02.020_bib35","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s12471-023-01800-4","article-title":"Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy","volume":"31","author":"van Lint","year":"2023","journal-title":"Neth Heart J Heart Found"},{"key":"10.1016\/j.cjca.2025.02.020_bib36","doi-asserted-by":"crossref","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":"10.1016\/j.cjca.2025.02.020_bib37","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1093\/eurheartj\/ehac180","article-title":"A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy","volume":"43","author":"Cadrin-Tourigny","year":"2022","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib38","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1093\/eurheartj\/ehac289","article-title":"Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator","volume":"40","author":"Jord\u00e0","year":"2022","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib39","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"43","author":"Zeppenfeld","year":"2022","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib40","first-page":"e210","volume":"138","author":"Al-Khatib","year":"2018","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib41","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1161\/CIRCULATIONAHA.115.017944","article-title":"Treatment of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: an international task force consensus statement","volume":"132","author":"Corrado","year":"2015","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib42","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1161\/CIRCULATIONAHA.122.060866","article-title":"programmed ventricular stimulation as an additional primary prevention risk stratification tool in arrhythmogenic right ventricular cardiomyopathy: a multinational study","volume":"146","author":"Gasperetti","year":"2022","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib43","doi-asserted-by":"crossref","first-page":"2842","DOI":"10.1093\/eurheartj\/ehab294","article-title":"Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction","volume":"42","author":"Verstraelen","year":"2021","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib44","doi-asserted-by":"crossref","DOI":"10.1093\/europace\/euae069","article-title":"Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study","volume":"26","author":"van der Heide","year":"2024","journal-title":"Europace"},{"key":"10.1016\/j.cjca.2025.02.020_bib45","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.hrthm.2024.02.038","article-title":"ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy","volume":"21","author":"van de Leur","year":"2024","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.cjca.2025.02.020_bib46","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacadv.2024.100832","article-title":"Long-term arrhythmic follow-up and risk stratification of patients with desmoplakin-associated arrhythmogenic right ventricular cardiomyopathy","volume":"3","author":"Gasperetti","year":"2024","journal-title":"JACC Adv"},{"key":"10.1016\/j.cjca.2025.02.020_bib47","first-page":"2968","article-title":"A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers","volume":"45","author":"Carrick","year":"2024","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib48","first-page":"479","article-title":"Predicting sudden cardiac death in genetic heart disease","volume":"38","author":"Cadrin-Tourigny","year":"2022","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib49","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1161\/CIRCULATIONAHA.118.039410","article-title":"Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies","volume":"140","author":"Wahbi","year":"2019","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib50","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.120.008509","article-title":"Sudden cardiac death prediction in arrhythmogenic right ventricular cardiomyopathy: a multinational collaboration","volume":"14","author":"Cadrin-Tourigny","year":"2021","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib51","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1093\/eurheartj\/ehad799","article-title":"Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe","volume":"45","author":"Carrick","year":"2024","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2025.02.020_bib52","doi-asserted-by":"crossref","DOI":"10.1093\/europace\/euad073","article-title":"Right ventricular function is a predictor for sustained ventricular tachycardia requiring anti-tachycardic pacing in arrhythmogenic ventricular cardiomyopathy: insight into transvenous vs. subcutaneous implantable cardioverter defibrillator insertion","volume":"25","author":"Honarbakhsh","year":"2023","journal-title":"Europace"},{"key":"10.1016\/j.cjca.2025.02.020_bib53","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.118.008782","article-title":"Subcutaneous implantable cardioverter-defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy\/dysplasia: a transatlantic experience","volume":"7","author":"Orgeron","year":"2018","journal-title":"J Am Heart Assoc"},{"key":"10.1016\/j.cjca.2025.02.020_bib54","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1161\/CIRCEP.115.003562","article-title":"Long-term outcome with catheter ablation of ventricular tachycardia in patients with arrhythmogenic right ventricular cardiomyopathy","volume":"8","author":"Santangeli","year":"2015","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.cjca.2025.02.020_bib55","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3008008","article-title":"Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy","volume":"6","author":"Asimaki","year":"2014","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib56","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1111\/j.1432-1033.1980.tb06059.x","article-title":"Glycogen synthase kinase-3 from rabbit skeletal muscle. Separation from cyclic-AMP-dependent protein kinase and phosphorylase kinase","volume":"107","author":"Embi","year":"1980","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.cjca.2025.02.020_bib57","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1111\/j.1432-1033.1980.tb06060.x","article-title":"Glycogen synthase from rabbit skeletal muscle. Amino acid sequence at the sites phosphorylated by glycogen synthase kinase-3, and extension of the N-terminal sequence containing the site phosphorylated by phosphorylase kinase","volume":"107","author":"Rylatt","year":"1980","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.cjca.2025.02.020_bib58","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1161\/CIRCRESAHA.116.303613","article-title":"The GSK-3 family as therapeutic target for myocardial diseases","volume":"116","author":"Lal","year":"2015","journal-title":"Circ Res"},{"key":"10.1016\/j.cjca.2025.02.020_bib59","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":"Garcia-Gras","year":"2006","journal-title":"J Clin Invest"},{"key":"10.1016\/j.cjca.2025.02.020_bib60","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1126\/science.289.5481.950","article-title":"Inhibition of adipogenesis by Wnt signaling","volume":"289","author":"Ross","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.cjca.2025.02.020_bib61","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.85923","article-title":"Central role for GSK3\u03b2 in the pathogenesis of arrhythmogenic cardiomyopathy","volume":"1","author":"Chelko","year":"2016","journal-title":"JCI Insight"},{"key":"10.1016\/j.cjca.2025.02.020_bib62","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1161\/CIRCULATIONAHA.119.040366","article-title":"Severe cardiac dysfunction and death caused by arrhythmogenic right ventricular cardiomyopathy type 5 are improved by inhibition of glycogen synthase kinase-3\u03b2","volume":"140","author":"Padr\u00f3n-Barthe","year":"2019","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2025.02.020_bib63","doi-asserted-by":"crossref","first-page":"3171","DOI":"10.1172\/JCI125538","article-title":"Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy","volume":"129","author":"Roberts","year":"2019","journal-title":"J Clin Invest"},{"key":"10.1016\/j.cjca.2025.02.020_bib64","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1192\/bjp.bp.116.181362","article-title":"Use of lithium and cancer risk in patients with bipolar disorder: population-based cohort study","volume":"209","author":"Huang","year":"2016","journal-title":"Br J Psychiatry"},{"key":"10.1016\/j.cjca.2025.02.020_bib65","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/bdi.12361","article-title":"Lithium treatment and cancer incidence in bipolar disorder","volume":"18","author":"Martinsson","year":"2016","journal-title":"Bipolar Disord"},{"key":"10.1016\/j.cjca.2025.02.020_bib66","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3233\/JAD-141959","article-title":"A phase II trial of tideglusib in Alzheimer\u2019s disease","volume":"45","author":"Lovestone","year":"2015","journal-title":"J Alzheimers Dis"},{"key":"10.1016\/j.cjca.2025.02.020_bib67","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/mds.25824","article-title":"A phase 2 trial of the GSK-3 inhibitor tideglusib in progressive supranuclear palsy","volume":"29","author":"Tolosa","year":"2014","journal-title":"Mov Disord"},{"key":"10.1016\/j.cjca.2025.02.020_bib68","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2011.00032","article-title":"GSK-3 inhibitors: preclinical and clinical focus on CNS","volume":"4","author":"Eldar-Finkelman","year":"2011","journal-title":"Front Mol Neurosci"},{"key":"10.1016\/j.cjca.2025.02.020_bib69","doi-asserted-by":"crossref","first-page":"4983","DOI":"10.1021\/acs.jmedchem.7b00395","article-title":"Subtly modulating glycogen synthase kinase 3\u03b2: allosteric inhibitor development and their potential for the treatment of chronic diseases","volume":"60","author":"Palomo","year":"2017","journal-title":"J Med Chem"},{"key":"10.1016\/j.cjca.2025.02.020_bib70","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1111\/j.1471-4159.2007.05194.x","article-title":"The GSK3 hypothesis of Alzheimer\u2019s disease","volume":"104","author":"Hooper","year":"2008","journal-title":"J Neurochem"},{"key":"10.1016\/j.cjca.2025.02.020_bib71","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ymgme.2003.08.016","article-title":"Fatal systemic inflammatory response syndrome in an ornithine transcarbamylase deficient patient following adenoviral gene transfer","volume":"80","author":"Raper","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.cjca.2025.02.020_bib72","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1089\/hum.2015.025","article-title":"Adeno-associated virus at 50: a golden anniversary of discovery, research, and gene therapy success---a personal perspective","volume":"26","author":"Hastie","year":"2015","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.cjca.2025.02.020_bib73","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1182\/blood-2013-01-306647","article-title":"Immune responses to AAV vectors: overcoming barriers to successful gene therapy","volume":"122","author":"Mingozzi","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.cjca.2025.02.020_bib74","doi-asserted-by":"crossref","first-page":"341","DOI":"10.3389\/fimmu.2013.00341","article-title":"Humoral immune response to AAV","volume":"4","author":"Calcedo","year":"2013","journal-title":"Front Immunol"},{"key":"10.1016\/j.cjca.2025.02.020_bib75","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.omtm.2019.05.014","article-title":"Prevalence of anti-adeno-associated virus immune responses in international cohorts of healthy donors","volume":"14","author":"Kruzik","year":"2019","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.cjca.2025.02.020_bib76","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/gt.2012.6","article-title":"Intracellular transport of recombinant adeno-associated virus vectors","volume":"19","author":"Nonnenmacher","year":"2012","journal-title":"Gene Ther"},{"key":"10.1016\/j.cjca.2025.02.020_bib77","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1038\/s41375-018-0106-0","article-title":"Clinical use of lentiviral vectors","volume":"32","author":"Milone","year":"2018","journal-title":"Leukemia"},{"key":"10.1016\/j.cjca.2025.02.020_bib78","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/nrg2988","article-title":"Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges","volume":"12","author":"Mingozzi","year":"2011","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.cjca.2025.02.020_bib79","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/s41573-019-0017-4","article-title":"The current state and future directions of RNAi-based therapeutics","volume":"18","author":"Setten","year":"2019","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.cjca.2025.02.020_bib80","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":"10.1016\/j.cjca.2025.02.020_bib81","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":"van der Zwaag","year":"2012","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.cjca.2025.02.020_bib82","doi-asserted-by":"crossref","first-page":"5180","DOI":"10.1038\/s41467-021-25439-0","article-title":"Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy","volume":"12","author":"Grote","year":"2021","journal-title":"Nat Commun"},{"key":"10.1016\/j.cjca.2025.02.020_bib83","doi-asserted-by":"crossref","DOI":"10.1126\/science.1258096","article-title":"The new frontier of genome engineering with CRISPR-Cas9","volume":"346","author":"Doudna","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.cjca.2025.02.020_bib84","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41586-019-1711-4","article-title":"Search-and-replace genome editing without double-strand breaks or donor DNA","volume":"576","author":"Anzalone","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.cjca.2025.02.020_bib85","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/s43856-024-00450-w","article-title":"AAV9:PKP2 improves heart function and survival in a Pkp2-deficient mouse model of arrhythmogenic right ventricular cardiomyopathy","volume":"4","author":"Wu","year":"2024","journal-title":"Commun Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib86","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1038\/s44161-023-00370-3","article-title":"Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics","volume":"2","author":"Bradford","year":"2023","journal-title":"Nat Cardiovasc Res"},{"key":"10.1016\/j.cjca.2025.02.020_bib87","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1038\/s44161-023-00378-9","article-title":"Therapeutic efficacy of AAV-mediated restoration of PKP2 in arrhythmogenic cardiomyopathy","volume":"2","author":"Kyriakopoulou","year":"2023","journal-title":"Nat Cardiovasc Res"},{"key":"10.1016\/j.cjca.2025.02.020_bib88","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.123.004305","article-title":"AAV-mediated delivery of plakophilin-2a arrests progression of arrhythmogenic right ventricular cardiomyopathy in murine hearts: preclinical evidence supporting gene therapy in humans","volume":"17","author":"van Opbergen","year":"2024","journal-title":"Circ Genomic Precis Med"},{"key":"10.1016\/j.cjca.2025.02.020_bib89","doi-asserted-by":"crossref","DOI":"10.1016\/j.hrthm.2024.03.1411","article-title":"Improved diagnosis of arrhythmogenic right ventricular cardiomyopathy using electrocardiographic deep learning","author":"Carrick","year":"2024","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.cjca.2025.02.020_bib90","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1007\/s12471-019-1247-0","article-title":"Phospholamban cardiomyopathy: a Canadian perspective on a unique population","volume":"27","author":"Cheung","year":"2019","journal-title":"Neth Heart J"}],"container-title":["Canadian Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0828282X25001308?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0828282X25001308?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T23:33:14Z","timestamp":1765841594000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0828282X25001308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":90,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["S0828282X25001308"],"URL":"https:\/\/doi.org\/10.1016\/j.cjca.2025.02.020","relation":{},"ISSN":["0828-282X"],"issn-type":[{"value":"0828-282X","type":"print"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"New Insights Into Genetic Right Ventricular Cardiomyopathies","name":"articletitle","label":"Article Title"},{"value":"Canadian Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cjca.2025.02.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of the Canadian Cardiovascular Society.","name":"copyright","label":"Copyright"}]}}