{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:28:33Z","timestamp":1790972913741,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002996","name":"Hartstichting","doi-asserted-by":"publisher","award":["2020B005"],"award-info":[{"award-number":["2020B005"]}],"id":[{"id":"10.13039\/501100002996","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018890","name":"Dutch Cardiovascular Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018890","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","heartrhythmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heart Rhythm"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.hrthm.2023.08.003","type":"journal-article","created":{"date-parts":[[2023,8,8]],"date-time":"2023-08-08T21:38:25Z","timestamp":1691530705000},"page":"1512-1521","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Phenotypic variability of filamin C\u2013related cardiomyopathy: Insights from a novel Dutch founder variant"],"prefix":"10.1016","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6235-016X","authenticated-orcid":false,"given":"Stephan A.C.","family":"Schoonvelde","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine W.B.","family":"Ruijmbeek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hirsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon A.","family":"van Slegtenhorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja W.","family":"Wessels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan H.","family":"von der Th\u00fcsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette F.","family":"Baas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie L.V.M.","family":"Stroeks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Job A.J.","family":"Verdonschot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"van der Zwaag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith M.A.","family":"Verhagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6432-0431","authenticated-orcid":false,"given":"Michelle","family":"Michels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.hrthm.2023.08.003_bib1","doi-asserted-by":"crossref","first-page":"2996","DOI":"10.1016\/j.jacc.2016.03.590","article-title":"The diagnosis and evaluation of dilated cardiomyopathy","volume":"67","author":"Japp","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2023.08.003_bib2","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1161\/CIRCGEN.120.003031","article-title":"Implications of genetic testing in dilated cardiomyopathy","volume":"13","author":"Verdonschot","year":"2020","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.hrthm.2023.08.003_bib3","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1056\/NEJM199201093260201","article-title":"The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy","volume":"326","author":"Michels","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1016\/j.hrthm.2023.08.003_bib4","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.jacep.2017.12.003","article-title":"Filamin C truncation mutations are associated with arrhythmogenic dilated cardiomyopathy and changes in the cell\u2013cell adhesion structures","volume":"4","author":"Begay","year":"2018","journal-title":"JACC Clin Electrophysiol"},{"key":"10.1016\/j.hrthm.2023.08.003_bib5","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.hrthm.2023.08.003_bib6","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1002\/humu.24004","article-title":"A mutation update for the FLNC gene in myopathies and cardiomyopathies","volume":"41","author":"Verdonschot","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hrthm.2023.08.003_bib7","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/35052082","article-title":"Filamins as integrators of cell mechanics and signalling","volume":"2","author":"Stossel","year":"2001","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.hrthm.2023.08.003_bib8","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1042\/BJ20041058","article-title":"Identification of filamin C as a new physiological substrate of PKB\u03b1 using KESTREL","volume":"384","author":"Murray","year":"2004","journal-title":"Biochem J"},{"key":"10.1016\/j.hrthm.2023.08.003_bib9","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/(SICI)1097-0169(200002)45:2<149::AID-CM6>3.0.CO;2-G","article-title":"Characterization of muscle filamin isoforms suggests a possible role of \u03b3-filamin\/ABP-L in sarcomeric Z-disc formation","volume":"45","author":"van der Ven","year":"2000","journal-title":"Cell Motil Cytoskelet"},{"key":"10.1016\/j.hrthm.2023.08.003_bib10","doi-asserted-by":"crossref","first-page":"2696","DOI":"10.3390\/ijms21082696","article-title":"Structure and function of filamin C in the muscle Z-disc","volume":"21","author":"Mao","year":"2020","journal-title":"Int J Mol"},{"key":"10.1016\/j.hrthm.2023.08.003_bib11","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1161\/CIRCRESAHA.120.317076","article-title":"Filamin C cardiomyopathy variants cause protein and lysosome accumulation","volume":"129","author":"Agarwal","year":"2021","journal-title":"Circ Res"},{"key":"10.1016\/j.hrthm.2023.08.003_bib12","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1021\/bi026501+","article-title":"The limits of promiscuity: isoform-specific dimerization of filamins","volume":"42","author":"Himmel","year":"2003","journal-title":"Biochemistry"},{"key":"10.1016\/j.hrthm.2023.08.003_bib13","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.jacbts.2016.05.004","article-title":"FLNC gene splice mutations cause dilated cardiomyopathy","volume":"1","author":"Begay","year":"2016","journal-title":"JACC Basic Transl Sci"},{"key":"10.1016\/j.hrthm.2023.08.003_bib14","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.hrthm.2021.09.029","article-title":"Filamin-C variant-associated cardiomyopathy: a pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death","volume":"19","author":"Celeghin","year":"2022","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2023.08.003_bib15","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.hrthm.2023.08.003_bib16","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.hrthm.2023.08.003_bib17","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1161\/hc0402.102975","article-title":"Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart","volume":"105","author":"Manuel","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2023.08.003_bib18","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.hrthm.2023.08.003_bib19","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1093\/eurheartj\/ehv727","article-title":"Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases","volume":"37","author":"Pinto","year":"2016","journal-title":"Eur Heart J"},{"key":"10.1016\/j.hrthm.2023.08.003_bib20","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.hrthm.2004.02.021","article-title":"Global remodeling of the ventricular interstitium in idiopathic myocardial fibrosis and sudden cardiac death","volume":"1","author":"John","year":"2004","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2023.08.003_bib21","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":"Sen-Chowdhry","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2023.08.003_bib22","doi-asserted-by":"crossref","first-page":"3599","DOI":"10.1093\/eurheartj\/ehab368","volume":"42","author":"McDonagh","year":"2021","journal-title":"Eur Heart J"},{"key":"10.1016\/j.hrthm.2023.08.003_bib23","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1111\/j.1399-0039.1981.tb01404.x","article-title":"Measuring the strength of associations between HLA antigens and diseases","volume":"18","author":"Bengtsson","year":"1981","journal-title":"Tissue Antigens"},{"key":"10.1016\/j.hrthm.2023.08.003_bib24","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.jcmg.2011.06.022","article-title":"Cardiac magnetic resonance in hypertrophic cardiomyopathy","volume":"4","author":"To","year":"2011","journal-title":"JACC Cardiovasc Imaging"},{"key":"10.1016\/j.hrthm.2023.08.003_bib25","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12968-014-0050-8","article-title":"Arrhythmogenic right ventricular cardiomyopathy (ARVC): cardiovascular magnetic resonance update","volume":"16","author":"Te Riele","year":"2014","journal-title":"J Cardiovasc Magn Reson"},{"key":"10.1016\/j.hrthm.2023.08.003_bib26","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.jacc.2005.03.045","article-title":"Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging","volume":"46","author":"Petersen","year":"2005","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2023.08.003_bib27","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1053\/hupa.2001.28232","article-title":"Arrhythmogenic right ventricular cardiomyopathy: clinicopathologic correlation based on a revised definition of pathologic patterns","volume":"32","author":"D\u2019Amati","year":"2001","journal-title":"Hum Pathol"},{"key":"10.1016\/j.hrthm.2023.08.003_bib28","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.116.001584","article-title":"Screening of the filamin C gene in a large cohort of hypertrophic cardiomyopathy patients","volume":"10","author":"G\u00f3mez","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.hrthm.2023.08.003_bib29","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/mgg3.488","article-title":"Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy","volume":"6","author":"Cui","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.hrthm.2023.08.003_bib30","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s12471-020-01444-8","article-title":"Cardiogenetics, 25 years a growing subspecialism","volume":"28","author":"Wilde","year":"2020","journal-title":"Neth Heart J"},{"key":"10.1016\/j.hrthm.2023.08.003_bib31","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1161\/CIRCIMAGING.113.001144","article-title":"Late gadolinium enhancement on cardiac magnetic resonance predicts adverse cardiovascular outcomes in nonischemic cardiomyopathy: a systematic review and meta-analysis","volume":"7","author":"Kuruvilla","year":"2014","journal-title":"Circ Cardiovasc Imaging"},{"key":"10.1016\/j.hrthm.2023.08.003_bib32","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1161\/CIRCHEARTFAILURE.113.000996","article-title":"Incremental prognostic value of myocardial fibrosis in patients with non\u2013ischemic cardiomyopathy without congestive heart failure","volume":"7","author":"Masci","year":"2014","journal-title":"Circ Heart Fail"},{"key":"10.1016\/j.hrthm.2023.08.003_bib33","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1093\/europace\/euab183","article-title":"Clinical characteristics and risk stratification of desmoplakin cardiomyopathy","volume":"24","author":"Wang","year":"2022","journal-title":"Europace"},{"key":"10.1016\/j.hrthm.2023.08.003_bib34","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.hrthm.2023.08.003_bib35","doi-asserted-by":"crossref","first-page":"2842","DOI":"10.1093\/eurheartj\/ehab294","article-title":"Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers\u2014reaching the frontiers of individual risk prediction","volume":"42","author":"Verstraelen","year":"2021","journal-title":"Eur Heart J"}],"container-title":["Heart Rhythm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527123025559?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527123025559?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T06:58:54Z","timestamp":1761548334000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1547527123025559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":35,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S1547527123025559"],"URL":"https:\/\/doi.org\/10.1016\/j.hrthm.2023.08.003","relation":{},"ISSN":["1547-5271"],"issn-type":[{"value":"1547-5271","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotypic variability of filamin C\u2013related cardiomyopathy: Insights from a novel Dutch founder variant","name":"articletitle","label":"Article Title"},{"value":"Heart Rhythm","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.hrthm.2023.08.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Published by Elsevier Inc. on behalf of Heart Rhythm Society.","name":"copyright","label":"Copyright"}]}}