{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:24:34Z","timestamp":1789086274154,"version":"build-2803163510"},"reference-count":40,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:00:00Z","timestamp":1770336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["201543\/Z\/16\/Z"],"award-info":[{"award-number":["201543\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006662","name":"National Institute on Handicapped Research","doi-asserted-by":"publisher","award":["RG65966"],"award-info":[{"award-number":["RG65966"]}],"id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["BBC\/F\/21\/220106"],"award-info":[{"award-number":["BBC\/F\/21\/220106"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["RE\/13\/1\/30181"],"award-info":[{"award-number":["RE\/13\/1\/30181"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013373","name":"NIHR Oxford Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013373","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":[[2026,6]]},"DOI":"10.1016\/j.hrthm.2026.01.054","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T17:23:52Z","timestamp":1770657832000},"page":"1289-1299","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG"],"prefix":"10.1016","volume":"23","author":[{"given":"Carin","family":"de Villiers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9116-4064","authenticated-orcid":false,"given":"Elizabeth","family":"Ormondroyd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Thomson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian O.M.","family":"Ormerod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rizwan","family":"Sarwar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Waring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard D.","family":"Bagnall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Sparrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violetta","family":"Steeples","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Blair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel J.","family":"Buchan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Bueno-Orovio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Dent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Farrall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Harper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Hastings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neesha","family":"Krishnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Lise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alistair T.","family":"Pagnamenta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Salatino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia","family":"Seed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny C.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert G.","family":"Weintraub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James S.","family":"Ware","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jodie","family":"Ingles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Semsarian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh","family":"Watkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.hrthm.2026.01.054_bib1","doi-asserted-by":"crossref","first-page":"1954","DOI":"10.3390\/jcm10091954","article-title":"Hypertrophic cardiomyopathy and primary restrictive cardiomyopathy: similarities, differences and phenocopies","volume":"10","author":"Vio","year":"2021","journal-title":"J Clin Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib2","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 gamma-filamin\/ABP-L in sarcomeric Z-disc formation","volume":"45","author":"van der Ven","year":"2000","journal-title":"Cell Motil Cytoskeleton"},{"key":"10.1016\/j.hrthm.2026.01.054_bib3","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00401-012-1054-9","article-title":"Filamin C-related myopathies: pathology and mechanisms","volume":"125","author":"F\u00fcrst","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.hrthm.2026.01.054_bib4","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.2026.01.054_bib5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/ncomms6326","article-title":"Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy","volume":"5","author":"Vald\u00e9s-Mas","year":"2014","journal-title":"Nat Commun"},{"key":"10.1016\/j.hrthm.2026.01.054_bib6","article-title":"Screening of the filamin C Gene in a large cohort of hypertrophic cardiomyopathy patients","volume":"10","author":"Juan","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.hrthm.2026.01.054_bib7","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/cge.13594","article-title":"FLNC pathogenic variants in patients with cardiomyopathies: prevalence and genotype-phenotype correlations","volume":"96","author":"Ader","year":"2019","journal-title":"Clin Genet"},{"key":"10.1016\/j.hrthm.2026.01.054_bib8","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.2026.01.054_bib9","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/humu.22942","article-title":"Mutations in FLNC are associated with familial restrictive cardiomyopathy","volume":"37","author":"Brodehl","year":"2016","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hrthm.2026.01.054_bib10","article-title":"Novel mutation in FLNC (filamin C) causes familial restrictive cardiomyopathy","volume":"10","author":"Tucker Nathan","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.hrthm.2026.01.054_bib11","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.118.002117","article-title":"Letter by Ma et al regarding article, \u201cNovel mutation in FLNC (filamin C) causes familial restrictive cardiomyopathy.\u201d","volume":"11","author":"Ma","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib12","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1002\/humu.23559","article-title":"De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy","volume":"39","author":"Kiselev","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hrthm.2026.01.054_bib13","first-page":"1","article-title":"Exome sequencing identifies FLNC and ADD3 variants in a family with cardiomyopathy","volume":"2","author":"Sanoja","year":"2018","journal-title":"J Transl Genet Genomics"},{"key":"10.1016\/j.hrthm.2026.01.054_bib14","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.2026.01.054_bib15","doi-asserted-by":"crossref","first-page":"21","DOI":"10.21037\/tp.2019.12.02","article-title":"Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients","volume":"9","author":"Xiao","year":"2020","journal-title":"Transl Pediatr"},{"key":"10.1016\/j.hrthm.2026.01.054_bib16","article-title":"Missense mutations in the FLNC gene causing familial restrictive cardiomyopathy","volume":"12","author":"Alvaro","year":"2019","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib17","doi-asserted-by":"crossref","first-page":"2083","DOI":"10.1002\/humu.23661","article-title":"Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy","volume":"39","author":"Schubert","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hrthm.2026.01.054_bib18","article-title":"Letter by Ahamed and Subramanian regarding article \u201cmissense mutations in the FLNC gene causing familial restrictive cardiomyopathy.\u201d","volume":"12","author":"Hisham","year":"2019","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib19","doi-asserted-by":"crossref","first-page":"8181","DOI":"10.4081\/cardiogenetics.2019.8181","article-title":"FLNC missense variants in familial noncompaction cardiomyopathy","volume":"9","author":"van Waning","year":"2019","journal-title":"Cardiogenetics"},{"key":"10.1016\/j.hrthm.2026.01.054_bib20","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 Rene","year":"2018","journal-title":"JACC Clin Electrophysiol"},{"key":"10.1016\/j.hrthm.2026.01.054_bib21","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.hrthm.2026.01.054_bib22","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.hrthm.2026.01.054_bib23","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1056\/NEJMra0902923","article-title":"Inherited cardiomyopathies","volume":"364","author":"Watkins","year":"2011","journal-title":"N Engl J Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib24","first-page":"3461","article-title":"Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes","volume":"38","author":"Walsh","year":"2017","journal-title":"Eur Heart J"},{"key":"10.1016\/j.hrthm.2026.01.054_bib25","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 Genom Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib26","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/s13073-019-0651-9","article-title":"Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series","volume":"11","author":"Taylor","year":"2019","journal-title":"Genome Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib27","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/ng.3304","article-title":"Factors influencing success of clinical genome sequencing across a broad spectrum of disorders","volume":"47","author":"Taylor","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.hrthm.2026.01.054_bib28","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41586-020-2434-2","article-title":"Whole-genome sequencing of patients with rare diseases in a national health system","volume":"583","author":"Turro","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.hrthm.2026.01.054_bib29","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1038\/s41436-018-0375-z","article-title":"Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield","volume":"21","author":"Thomson","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib30","author":"Matthew"},{"key":"10.1016\/j.hrthm.2026.01.054_bib31","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1038\/gim.2017.26","article-title":"Using high-resolution variant frequencies to empower clinical genome interpretation","volume":"19","author":"Whiffin","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib32","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1136\/jmedgenet-2020-106922","article-title":"Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy","volume":"58","author":"Waring","year":"2021","journal-title":"J Med Genet"},{"key":"10.1016\/j.hrthm.2026.01.054_bib33","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.hrthm.2026.01.054_bib34","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/gim.2016.90","article-title":"Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples","volume":"19","author":"Walsh","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib35","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.2026.01.054_bib36","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s12265-017-9730-8","article-title":"Usefulness of genetic testing in hypertrophic cardiomyopathy: an analysis using real-world data","volume":"10","author":"Alejandra Restrepo-Cordoba","year":"2017","journal-title":"J Cardiovasc Transl Res"},{"key":"10.1016\/j.hrthm.2026.01.054_bib37","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/gim.2017.218","article-title":"Adaptation and validation of the ACMG\/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen\u2019s Inherited Cardiomyopathy Expert Panel","volume":"20","author":"Kelly","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.hrthm.2026.01.054_bib38","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.recesp.2022.07.015","article-title":"ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive\/hypertrophic cardiomyopathy and saw-tooth myocardium","volume":"76","author":"Berm\u00fadez-Jim\u00e9nez","year":"2023","journal-title":"Rev Espa\u00f1ola Cardiol (Engl Ed)"},{"key":"10.1016\/j.hrthm.2026.01.054_bib39","article-title":"Case report: A Chinese family of hypertrophic cardiomyopathy caused by a novel splicing mutation in the FLNC gene","volume":"13","author":"Huang","year":"2022","journal-title":"Front Genet"},{"key":"10.1016\/j.hrthm.2026.01.054_bib40","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1002\/ajmg.a.63169","article-title":"Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy","volume":"191","author":"Gaudreault","year":"2023","journal-title":"Am J Med Genet A"}],"container-title":["Heart Rhythm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527126001219?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527126001219?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T08:34:39Z","timestamp":1779870879000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1547527126001219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":40,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["S1547527126001219"],"URL":"https:\/\/doi.org\/10.1016\/j.hrthm.2026.01.054","relation":{},"ISSN":["1547-5271"],"issn-type":[{"value":"1547-5271","type":"print"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG","name":"articletitle","label":"Article Title"},{"value":"Heart Rhythm","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.hrthm.2026.01.054","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Heart Rhythm Society.","name":"copyright","label":"Copyright"}]}}