{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T05:05:58Z","timestamp":1789362358523,"version":"build-2803163510"},"reference-count":63,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:00:00Z","timestamp":1789257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:00:00Z","timestamp":1789257600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004385","name":"Universiteit Gent","doi-asserted-by":"publisher","award":["BOF.BAF.2024.0342.01"],"award-info":[{"award-number":["BOF.BAF.2024.0342.01"]}],"id":[{"id":"10.13039\/501100004385","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Filamin C (\n                    <jats:italic>FLNC<\/jats:italic>\n                    ) contributes to 1%\u20138% of adult\u2010onset cardiomyopathy (CMP), with a high prevalence of end\u2010stage heart failure and sudden cardiac death, particularly for\n                    <jats:italic>FLNC<\/jats:italic>\n                    truncating variants (\n                    <jats:italic>FLNCtv<\/jats:italic>\n                    ), rendering it one of the high\u2010risk CMP genes. Outcome data and genotype\u2013phenotype correlation in children are scarce. We conducted a retrospective cohort study of children (&lt;\u200918\u2009years) with CMP features and a (likely) pathogenic\n                    <jats:italic>FLNC<\/jats:italic>\n                    variant, identified via literature search or in the Belgian Pediatric Cardiology Registry (BePCaR), to evaluate cardiovascular outcomes and genotype\u2013phenotype correlations. Seventy\u2010four individuals (56.8% male, median age 4.5\u2009years) from 57 families were included. Restrictive CMP was the most prevalent phenotype. Half of the patients experienced major adverse cardiovascular events, including heart transplantation (20.3%) and death (13.5%). Hypertrophic CMP was exclusively associated with ROD2 domain variants. Mortality was significantly higher in\n                    <jats:italic>FLNCtv<\/jats:italic>\n                    carriers versus non\u2010truncating carriers (26.9% vs. 6.3%,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.019), and multivariate analysis identified\n                    <jats:italic>FLNCtv<\/jats:italic>\n                    as an independent predictor of adverse outcome (OR\u2009=\u20096.4, 95% CI: [1.36, 29.80]). Extracardiac manifestations occurred in 32.4%, predominantly in RCM patients, with myopathy\u2010associated variants clustering in exons 21 and 41. Pathogenic\n                    <jats:italic>FLNC<\/jats:italic>\n                    variants associate with early\u2010onset CMP and poor prognosis, underscoring the need for early genetic screening, risk stratification, and personalized follow\u2010up to improve outcome.\n                  <\/jats:p>","DOI":"10.1111\/cge.70248","type":"journal-article","created":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T04:46:56Z","timestamp":1789361216000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Childhood\u2010Onset\n                    <scp>\n                      <i>Filamin c<\/i>\n                    <\/scp>\n                    Related Cardiomyopathy: Genotype\u2013Phenotype Correlation and Outcome"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-5881-2708","authenticated-orcid":false,"given":"Evelien","family":"Cansse","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Cardiology Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8314-7231","authenticated-orcid":false,"given":"Wannes","family":"Renders","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Cardiology Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2315-9925","authenticated-orcid":false,"given":"Luc","family":"Bruyndonckx","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Antwerp University Hospital  Antwerp Belgium"},{"name":"Laboratory of Experimental Medicine and Pediatrics (LEMP) University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9743-4205","authenticated-orcid":false,"given":"Bert","family":"Callewaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital  Ghent Belgium"},{"name":"Department of Biomolecular Medicine Ghent University  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8278-2437","authenticated-orcid":false,"given":"Katya","family":"De Groote","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Cardiology Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0743-0823","authenticated-orcid":false,"given":"Ruth","family":"Heying","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Cardiology Leuven University Hospital  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6719-2746","authenticated-orcid":false,"given":"Jelena","family":"Hubrechts","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Congenital and Pediatric Cardiology Saint\u2010Luc University Hospital  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0900-6674","authenticated-orcid":false,"given":"St\u00e9phane","family":"Moniotte","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Congenital and Pediatric Cardiology Saint\u2010Luc University Hospital  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0971-5147","authenticated-orcid":false,"given":"Thomas","family":"Salaets","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Cardiology Leuven University Hospital  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3094-7807","authenticated-orcid":false,"given":"Laura Mui\u00f1o","family":"Mosquera","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Cardiology Ghent University Hospital  Ghent Belgium"},{"name":"Center for Medical Genetics Ghent University Hospital  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,13]]},"reference":[{"issue":"1","key":"e_1_2_13_2_1","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1161\/CIR.0000000000000682","article-title":"Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association","volume":"140","author":"Lipshultz S. 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M.","year":"2017","journal-title":"Circulation Research"},{"issue":"10","key":"e_1_2_13_6_1","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1161\/CIRCULATIONAHA.112.104638","article-title":"Outcomes of Restrictive Cardiomyopathy in Childhood and the Influence of Phenotype: A Report From the Pediatric Cardiomyopathy Registry","volume":"126","author":"Webber S. A.","year":"2012","journal-title":"Circulation"},{"issue":"12","key":"e_1_2_13_7_1","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1253\/circj.CJ-21-0706","article-title":"Outcomes of Restrictive Cardiomyopathy in Japanese Children\u2014A Retrospective Cohort Study","volume":"86","author":"Mori H.","year":"2022","journal-title":"Circulation Journal"},{"issue":"16","key":"e_1_2_13_8_1","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1093\/eurheartj\/ehae109","article-title":"Cardiomyopathies in Children and Adolescents: Aetiology, Management, and Outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry","volume":"45","author":"Kaski J. P.","year":"2024","journal-title":"European Heart Journal"},{"key":"e_1_2_13_9_1","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1264751","article-title":"Symptomatic Presentation Influences Outcomes in Pediatric Restrictive Cardiomyopathy","volume":"11","author":"Lorenzo M.","year":"2023","journal-title":"Frontiers in Pediatrics"},{"issue":"17","key":"e_1_2_13_10_1","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1056\/NEJMoa021715","article-title":"The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States","volume":"348","author":"Lipshultz S. E.","year":"2003","journal-title":"New England Journal of Medicine"},{"issue":"17","key":"e_1_2_13_11_1","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1056\/NEJMoa021737","article-title":"The Epidemiology of Childhood Cardiomyopathy in Australia","volume":"348","author":"Nugent A. W.","year":"2003","journal-title":"New England Journal of Medicine"},{"issue":"9","key":"e_1_2_13_12_1","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.120.017731","article-title":"Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study","volume":"10","author":"Ware S. M.","year":"2021","journal-title":"Journal of the American Heart Association"},{"issue":"1","key":"e_1_2_13_13_1","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s00246-019-02240-x","article-title":"Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing","volume":"41","author":"Rojnueangnit K.","year":"2020","journal-title":"Pediatric Cardiology"},{"issue":"7","key":"e_1_2_13_14_1","first-page":"727","article-title":"Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel","volume":"85","author":"Hespe S.","year":"2025","journal-title":"Journal of the American College of Cardiology"},{"issue":"1","key":"e_1_2_13_15_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1161\/CIRCULATIONAHA.120.053033","article-title":"Evidence\u2010Based Assessment of Genes in Dilated Cardiomyopathy","volume":"144","author":"Jordan E.","year":"2021","journal-title":"Circulation"},{"issue":"9","key":"e_1_2_13_16_1","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1002\/humu.23559","article-title":"De Novo Mutations in FLNC Leading to Early\u2010Onset Restrictive Cardiomyopathy and Congenital Myopathy","volume":"39","author":"Kiselev A.","year":"2018","journal-title":"Human Mutation"},{"issue":"3","key":"e_1_2_13_17_1","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 A.","year":"2016","journal-title":"Human Mutation"},{"issue":"22","key":"e_1_2_13_18_1","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","article-title":"Truncating FLNC Mutations Are Associated With High\u2010Risk Dilated and Arrhythmogenic Cardiomyopathies","volume":"68","author":"Ortiz\u2010Genga M. F.","year":"2016","journal-title":"Journal of the American College of Cardiology"},{"issue":"12","key":"e_1_2_13_19_1","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1038\/ejhg.2016.110","article-title":"Congenital Dilated Cardiomyopathy Caused by Biallelic Mutations in Filamin C","volume":"24","author":"Reinstein E.","year":"2016","journal-title":"European Journal of Human Genetics"},{"issue":"1","key":"e_1_2_13_20_1","doi-asserted-by":"crossref","first-page":"5326","DOI":"10.1038\/ncomms6326","article-title":"Mutations in Filamin C Cause a New Form of Familial Hypertrophic Cardiomyopathy","volume":"5","author":"Vald\u00e9s\u2010Mas R.","year":"2014","journal-title":"Nature Communications"},{"issue":"4","key":"e_1_2_13_21_1","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1007\/s10741-021-10172-z","article-title":"Filamin C in Cardiomyopathy: From Physiological Roles to DNA Variants","volume":"27","author":"Song S.","year":"2022","journal-title":"Heart Failure Reviews"},{"key":"e_1_2_13_22_1","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1007\/s004390000414","article-title":"Genomic Structure and Fine Mapping of the Two Human Filamin Gene Paralogues FLNB and FLNC and Comparative Analysis of the Filamin Gene Family","volume":"107","author":"Chakarova C.","year":"2000","journal-title":"Human Genetics"},{"issue":"4","key":"e_1_2_13_23_1","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10040577","article-title":"Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy","volume":"10","author":"Eden M.","year":"2021","journal-title":"Journal of Clinical Medicine"},{"issue":"1","key":"e_1_2_13_24_1","doi-asserted-by":"crossref","DOI":"10.1186\/s40246-024-00683-9","article-title":"Novel FLNC Variants in Pediatric Cardiomyopathy: An Insight Into Disease Mechanisms","volume":"18","author":"Dong R.","year":"2024","journal-title":"Human Genomics"},{"issue":"6","key":"e_1_2_13_25_1","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 J. A. J.","year":"2020","journal-title":"Human Mutation"},{"issue":"4","key":"e_1_2_13_26_1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/cge.13594","article-title":"FLNC Pathogenic Variants in Patients With Cardiomyopathies: Prevalence and Genotype\u2010Phenotype Correlations","volume":"96","author":"Ader F.","year":"2019","journal-title":"Clinical Genetics"},{"issue":"12","key":"e_1_2_13_27_1","doi-asserted-by":"crossref","first-page":"3250","DOI":"10.1093\/brain\/awm271","article-title":"Clinical and Morphological Phenotype of the Filamin Myopathy: A Study of 31 German Patients","volume":"130","author":"Kley R. A.","year":"2007","journal-title":"Brain"},{"issue":"2","key":"e_1_2_13_28_1","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1086\/431959","article-title":"A Mutation in the Dimerization Domain of Filamin c Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy","volume":"77","author":"Vorgerd M.","year":"2005","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_13_29_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgmr.2023.101027","article-title":"A Child With Dilated Cardiomyopathy and Homozygous Splice Site Variant in FLNC Gene","volume":"38","author":"Alsubhi A.","year":"2024","journal-title":"Molecular Genetics and Metabolism Reports"},{"issue":"5","key":"e_1_2_13_30_1","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.rec.2022.08.002","article-title":"ROD2 Domain Filamin C Missense Mutations Exhibit a Distinctive Cardiac Phenotype With Restrictive\/Hypertrophic Cardiomyopathy and Saw\u2010Tooth Myocardium","volume":"76","author":"Berm\u00fadez\u2010Jim\u00e9nez F. J.","year":"2023","journal-title":"Revista Espa\u00f1ola de Cardiolog\u00eda (English Edition)"},{"issue":"1","key":"e_1_2_13_31_1","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 F.","year":"2020","journal-title":"Translational Pediatrics"},{"issue":"4","key":"e_1_2_13_32_1","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ejmg.2018.08.006","article-title":"A Novel Familial Truncating Mutation in the Filamin C Gene Associated With Cardiac Arrhythmias","volume":"62","author":"Mangum K. D.","year":"2019","journal-title":"European Journal of Medical Genetics"},{"issue":"10","key":"e_1_2_13_33_1","doi-asserted-by":"crossref","DOI":"10.3390\/jcdd9100332","article-title":"Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients","volume":"9","author":"Baban A.","year":"2022","journal-title":"Journal of Cardiovascular Development and Disease"},{"issue":"2","key":"e_1_2_13_34_1","doi-asserted-by":"crossref","first-page":"1","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 J.","year":"2017","journal-title":"Circulation. Cardiovascular Genetics"},{"issue":"1","key":"e_1_2_13_35_1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00401-012-1054-9","article-title":"Filamin C\u2010Related Myopathies: Pathology and Mechanisms","volume":"125","author":"F\u00fcrst D. O.","year":"2013","journal-title":"Acta Neuropathologica"},{"issue":"2","key":"e_1_2_13_36_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.hrthm.2021.09.029","article-title":"Filamin\u2010C Variant\u2010Associated Cardiomyopathy: A Pooled Analysis of Individual Patient Data to Evaluate the Clinical Profile and Risk of Sudden Cardiac Death","volume":"19","author":"Celeghin R.","year":"2022","journal-title":"Heart Rhythm"},{"issue":"9","key":"e_1_2_13_37_1","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1136\/heartjnl-2021-319682","article-title":"Dilated Cardiomyopathy: The Role of Genetics, Highlighted in a Family With Filamin C (FLNC) Variant","volume":"108","author":"Dungu J. N.","year":"2022","journal-title":"Heart"},{"issue":"2","key":"e_1_2_13_38_1","doi-asserted-by":"crossref","first-page":"206","DOI":"10.3390\/cardiogenetics12020019","article-title":"Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child With Restrictive Cardiomyopathy","volume":"12","author":"Girolami F.","year":"2022","journal-title":"Cardiogenetics"},{"issue":"1","key":"e_1_2_13_39_1","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1186\/s13023-022-02477-5","article-title":"Rare Clinical Phenotype of Filaminopathy Presenting as Restrictive Cardiomyopathy and Myopathy in Childhood","volume":"17","author":"Muravyev A.","year":"2022","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"3","key":"e_1_2_13_40_1","article-title":"Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy","volume":"12","author":"Rold\u00e1n\u2010Sevilla A.","year":"2019","journal-title":"Circulation: Genomic and Precision Medicine"},{"issue":"12","key":"e_1_2_13_41_1","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 J.","year":"2018","journal-title":"Human Mutation"},{"issue":"5","key":"e_1_2_13_42_1","article-title":"FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association","volume":"121","author":"Aristizabal A. 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Cardiovascular Genetics"},{"key":"e_1_2_13_44_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijcard.2024.131849","article-title":"Variable Clinical Expression of a Novel FLNC Truncating Variant in a Large Family","volume":"401","author":"Tomer O.","year":"2024","journal-title":"International Journal of Cardiology"},{"issue":"3","key":"e_1_2_13_45_1","doi-asserted-by":"crossref","DOI":"10.1093\/ehjcr\/ytae111","article-title":"Pathogenic Truncating Filamin C Mutations Presenting as Acute Myocarditis: A Case Series With Insights From Cardiac Magnetic Resonance and Histological Analysis","volume":"8","author":"Vrettos A.","year":"2024","journal-title":"European Heart Journal\u2014Case Reports"},{"key":"e_1_2_13_46_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2021.102640","article-title":"Generation of iPSC Line (FAMRCi009\u2010A) From Patient With Familial Progressive Cardiac Conduction Disorder Carrying Genetic Variant FLNC p. Val2264Met","volume":"59","author":"Rodina N.","year":"2022","journal-title":"Stem Cell Research"},{"issue":"3","key":"e_1_2_13_47_1","doi-asserted-by":"crossref","first-page":"100976","DOI":"10.1016\/j.xcrm.2023.100976","article-title":"Engineered Cardiac Tissue Model of Restrictive Cardiomyopathy for Drug Discovery","volume":"4","author":"Wang B. 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