{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T17:24:27Z","timestamp":1793121867803,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JACC: Clinical Electrophysiology"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1016\/j.jacep.2024.02.031","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T16:19:09Z","timestamp":1715185149000},"page":"1178-1190","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"title":["Phenotype and Clinical Outcomes\u00a0in\u00a0Desmin-Related Arrhythmogenic Cardiomyopathy"],"prefix":"10.1016","volume":"10","author":[{"given":"Francisco J.","family":"Bermudez-Jimenez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Protonotarios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soledad","family":"Garc\u00eda-Hern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"P\u00e9rez Asensio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Rampazzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Zorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Brodehl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A.","family":"Arias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Mac\u00edas-Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Fern\u00e1ndez-Armenta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma","family":"Remior Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Mu\u00f1oz-Esparza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalliopi","family":"Pilichou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Bauce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose L.","family":"Merino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Moliner-Ab\u00f3s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan P.","family":"Ochoa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Barriales-Villa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Garcia-Pavia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis R.","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Corrado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry M.","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"McKenna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Jimenez-Jaimez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacep.2024.02.031_bib1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s00401-012-1057-6","article-title":"Desminopathies: pathology and mechanisms","volume":"125","author":"Clemen","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jacep.2024.02.031_bib2","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.jacep.2024.02.031_bib3","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.3390\/biomedicines9101400","article-title":"The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3","volume":"9","author":"Brodehl","year":"2021","journal-title":"Biomedicines"},{"key":"10.1016\/j.jacep.2024.02.031_bib4","first-page":"273","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.jacep.2024.02.031_bib5","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ijcard.2020.06.005","article-title":"Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria","volume":"319","author":"Corrado","year":"2020","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacep.2024.02.031_bib6","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1093\/ehjci\/jev014","article-title":"Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging","volume":"16","author":"Lang","year":"2015","journal-title":"Eur Hear J Cardiovasc Imaging"},{"key":"10.1016\/j.jacep.2024.02.031_bib7","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jacep.2024.02.031_bib8","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1161\/CIRCGENETICS.113.000103","article-title":"The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death","volume":"6","author":"Brodehl","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jacep.2024.02.031_bib9","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1016\/j.hrthm.2009.07.041","article-title":"Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene","volume":"6","author":"van Tintelen","year":"2009","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacep.2024.02.031_bib10","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1016\/j.hrthm.2010.04.023","article-title":"Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks","volume":"7","author":"Otten","year":"2010","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacep.2024.02.031_bib11","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.ijcard.2016.04.164","article-title":"Progressive cardiac conduction disease associated with a DSP gene mutation","volume":"216","author":"Kiselev","year":"2016","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacep.2024.02.031_bib12","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.3390\/diagnostics11081323","article-title":"Sudden unexpected death associated with arrhythmogenic cardiomyopathy: study of the cardiac conduction system","volume":"11","author":"Ottaviani","year":"2021","journal-title":"Diagnostics"},{"key":"10.1016\/j.jacep.2024.02.031_bib13","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":"Berm\u00fadez-Jim\u00e9nez","year":"2018","journal-title":"Circulation"},{"key":"10.1016\/j.jacep.2024.02.031_bib14","first-page":"857","article-title":"The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular arrhythmogenic cardiomyopathy","volume":"37","author":"Protonotarios","year":"2021","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.jacep.2024.02.031_bib15","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1161\/CIRCULATIONAHA.119.044934","article-title":"Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy","volume":"141","author":"Smith","year":"2020","journal-title":"Circulation"},{"key":"10.1016\/j.jacep.2024.02.031_bib16","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.jacep.2024.02.031_bib17","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\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacep.2024.02.031_bib18","first-page":"326","article-title":"Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study","volume":"21","author":"Augusto","year":"2020","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"10.1016\/j.jacep.2024.02.031_bib19","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1093\/ehjci\/jez277","article-title":"Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study","volume":"21","author":"Segura-Rodr\u00edguez","year":"2020","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"10.1016\/j.jacep.2024.02.031_bib20","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1161\/CIRCULATIONAHA.120.047640","article-title":"Prognostic value of nonischemic ringlike left ventricular scar in patients with apparently idiopathic nonsustained ventricular arrhythmias","volume":"143","author":"Muser","year":"2021","journal-title":"Circulation"},{"key":"10.1016\/j.jacep.2024.02.031_bib21","first-page":"714","article-title":"Acute myocarditis associated with desmosomal gene variants","volume":"10","author":"Ammirati","year":"2022","journal-title":"J\u00a0Am Coll Cardiiol HF"},{"key":"10.1016\/j.jacep.2024.02.031_bib22","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1161\/CIRCULATIONAHA.121.058457","article-title":"Genetic architecture of acute myocarditis and the overlap with inherited cardiomyopathy","volume":"146","author":"Lota","year":"2022","journal-title":"Circulation"},{"key":"10.1016\/j.jacep.2024.02.031_bib23","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/j.2040-4603.2017.tb00766.x","article-title":"Overview of the muscle cytoskeleton","volume":"7","author":"Henderson","year":"2017","journal-title":"Compr Physiol"},{"key":"10.1016\/j.jacep.2024.02.031_bib24","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1007\/s12551-018-0431-6","article-title":"Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy","volume":"10","author":"Stroud","year":"2018","journal-title":"Biophys Rev"},{"key":"10.1016\/j.jacep.2024.02.031_bib25","doi-asserted-by":"crossref","first-page":"4974","DOI":"10.1242\/jcs.03255","article-title":"New insights into the molecular basis of desmoplakin and desmin-related cardiomyopathies","volume":"119","author":"Lapouge","year":"2006","journal-title":"J\u00a0Cell Sci"},{"key":"10.1016\/j.jacep.2024.02.031_bib26","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/s12551-018-0429-0","article-title":"Molecular insights into cardiomyopathies associated with desmin (DES) mutations","volume":"10","author":"Brodehl","year":"2018","journal-title":"Biophys Rev"},{"key":"10.1016\/j.jacep.2024.02.031_bib27","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1016\/j.jmb.2010.02.024","article-title":"Mutations in desmin\u2019s carboxy-terminal \u201ctail\u201d domain severely modify filament and network mechanics","volume":"397","author":"B\u00e4r","year":"2010","journal-title":"J\u00a0Mol Biol"},{"key":"10.1016\/j.jacep.2024.02.031_bib28","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.jacep.2024.02.031_bib29","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":"43","author":"Jord\u00e0","year":"2022","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacep.2024.02.031_bib30","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1001\/jamacardio.2021.1106","article-title":"Association of left ventricular systolic dysfunction among carriers of truncating variants in filamin C with frequent ventricular arrhythmia and end-stage heart failure","volume":"6","author":"Akhtar","year":"2021","journal-title":"JAMA Cardiol"},{"key":"10.1016\/j.jacep.2024.02.031_bib31","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.recesp.2020.03.002","article-title":"Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry","volume":"74","author":"Barriales-Villa","year":"2021","journal-title":"Rev Esp Cardiol"},{"key":"10.1016\/j.jacep.2024.02.031_bib32","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1093\/eurheartj\/ehz103","article-title":"A\u00a0new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy","volume":"40","author":"Cadrin-Tourigny","year":"2019","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacep.2024.02.031_bib33","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.jacep.2024.02.031_bib34","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1399-0004.2012.01919.x","article-title":"The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43","volume":"83","author":"Hodgkinson","year":"2013","journal-title":"Clin Genet"},{"key":"10.1016\/j.jacep.2024.02.031_bib35","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.jacep.2024.02.031_bib36","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1161\/CIRCGENETICS.113.000374","article-title":"Outcome in phospholamban R14del carriers: results of a large multicentre cohort study","volume":"7","author":"Van Rijsingen","year":"2014","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jacep.2024.02.031_bib37","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1093\/eurheartj\/ehz570","article-title":"High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy","volume":"41","author":"Chivulescu","year":"2020","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacep.2024.02.031_bib38","first-page":"28","article-title":"Late gadolinium enhancement and the risk for ventricular arrhythmias or sudden death in dilated cardiomyopathy: systematic review and meta-analysis","volume":"5","author":"Di Marco","year":"2017","journal-title":"J\u00a0Am Coll Cardiol HF"},{"key":"10.1016\/j.jacep.2024.02.031_bib39","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","volume":"43","author":"Zeppenfeld","year":"2022","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacep.2024.02.031_bib40","first-page":"819","article-title":"Preventing sudden death in arrhythmogenic cardiomyopathy: careful family and genetic evaluation key to appropriate diagnosis and management","volume":"37","author":"Ortiz-Genga","year":"2021","journal-title":"Can J Cardiol"}],"container-title":["JACC: Clinical Electrophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405500X24001774?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405500X24001774?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T17:29:40Z","timestamp":1762622980000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2405500X24001774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":40,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["S2405500X24001774"],"URL":"https:\/\/doi.org\/10.1016\/j.jacep.2024.02.031","relation":{},"ISSN":["2405-500X"],"issn-type":[{"value":"2405-500X","type":"print"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotype and Clinical Outcomes\u00a0in\u00a0Desmin-Related Arrhythmogenic Cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"JACC: Clinical Electrophysiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacep.2024.02.031","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 by the American College of Cardiology Foundation. Published by Elsevier.","name":"copyright","label":"Copyright"}]}}