{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T04:23:11Z","timestamp":1744086191752,"version":"3.40.3"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T00:00:00Z","timestamp":1738540800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FU339\/11\u20132","FU339\/13\u20131"],"award-info":[{"award-number":["FU339\/11\u20132","FU339\/13\u20131"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in the human FLNC gene encoding filamin C (FLNc) cause a broad spectrum of sporadic and familial cardiomyopathies and myopathies. We report on the genetic, clinical, morphological and biochemical findings in a German family harboring an FLNC variant that leads to severe cardiac disease comprising sudden cardiac death and arrhythmogenic cardiomyopathy. Genetic analysis identified a novel heterozygous FLNC variant in exon 16 (NM_001458.4:c.2495_2498delAGTA, het; p.K832TfsX45) in i) the index patient suffering from dilated cardiomyopathy necessitating heart transplantation, ii) a son, who died from sudden cardiac death, iii) a second son, who survived an episode of sudden cardiac arrest and iv) a third son affected by isolated skeletal muscle myopathy. FLNc protein levels were markedly reduced in cardiac tissue obtained from the index patient, implying that the p.K832TfsX45 FLNc variant most probably caused nonsense-mediated decay of the corresponding mRNA. Morphological analysis of the diseased cardiac tissue revealed extensive fibrotic remodeling, and marked degenerative changes of the contractile apparatus of cardiomyocytes and severe structural alterations of intercalated discs. Connexin-43 signal intensity at intercalated discs was diminished and FLNc labelling of myofibrils was attenuated or even absent. Proteome analyses demonstrated complex alterations of extracellular matrix and intercalated disc proteins. Our findings demonstrate that this novel, truncating FLNC mutation likely leads to haploinsufficiency, thereby causing a deleterious sequence of degenerative changes of cardiac tissue with extensive fibrotic remodeling and intercalated disc pathology as the structural basis for FLNC-related cardiomyopathy with life-threatening cardiac arrhythmias.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf014","type":"journal-article","created":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T06:30:02Z","timestamp":1738564202000},"page":"726-738","source":"Crossref","is-referenced-by-count":0,"title":["Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and death"],"prefix":"10.1093","volume":"34","author":[{"given":"Christian","family":"Holtzhausen","sequence":"first","affiliation":[{"name":"Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-N\u00fcrnberg, Schwabachanlage 6 , 91054 Erlangen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorena","family":"Heil","sequence":"additional","affiliation":[{"name":"Institute for Cell Biology, University of Bonn, Ulrich-Haberland-Str. 61a , 53121 Bonn ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Klingel","sequence":"additional","affiliation":[{"name":"Cardiopathology, Institute for Pathology and Neuropathology, University Hospital T\u00fcbingen, Liebermeisterstr. 8 , 72076 T\u00fcbingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2187-8715","authenticated-orcid":false,"given":"Henrik","family":"Fox","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstr. 11 , 32545 Bad Oeynhausen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Gummert","sequence":"additional","affiliation":[{"name":"Clinic for Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstr. 11 , 32545 Bad Oeynhausen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"G\u00e4rtner","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Center North Rhine-Westphalia, Ruhr University of Bochum, Georgstr. 11 , 32545 Bad Oeynhausen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine (CMMC), Medical Faculty, and Excellence Cluster \u201cCellular Stress Responses in Aging-Associated Diseases\u201d (CECAD), University of Cologne, Joseph-Stelzmann-Str. 26 , 50937 Cologne ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcus","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine (CMMC), Medical Faculty, and Excellence Cluster \u201cCellular Stress Responses in Aging-Associated Diseases\u201d (CECAD), University of Cologne, Joseph-Stelzmann-Str. 26 , 50937 Cologne ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregor","family":"Kirfel","sequence":"additional","affiliation":[{"name":"Institute for Cell Biology, University of Bonn, Ulrich-Haberland-Str. 61a , 53121 Bonn ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9750-8913","authenticated-orcid":false,"given":"Peter F M","family":"van der Ven","sequence":"additional","affiliation":[{"name":"Institute for Cell Biology, University of Bonn, Ulrich-Haberland-Str. 61a , 53121 Bonn ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hendrik","family":"Milting","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Center North Rhine-Westphalia, Ruhr University of Bochum, Georgstr. 11 , 32545 Bad Oeynhausen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph S","family":"Clemen","sequence":"additional","affiliation":[{"name":"Institute of Aerospace Medicine, German Aerospace Center (DLR), Linder H\u00f6he , 51147 Cologne ,","place":["Germany"]},{"name":"Institute of Vegetative Physiology, Medical Faculty, University of Cologne, Robert-Koch-Str. 39 , 50931 Cologne ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-N\u00fcrnberg, Schwabachanlage 6 , 91054 Erlangen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter O","family":"F\u00fcrst","sequence":"additional","affiliation":[{"name":"Institute for Cell Biology, University of Bonn, Ulrich-Haberland-Str. 61a , 53121 Bonn ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens","family":"Tiesmeier","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Center North Rhine-Westphalia, Ruhr University of Bochum, Georgstr. 11 , 32545 Bad Oeynhausen ,","place":["Germany"]},{"name":"Institute for Anesthesiology, Intensive Care- and Emergency Medicine, MLK-Hospital, Voedestr. 79, Luebbecke, Campus OWL, Ruhr-University Bochum , 32312 L\u00fcbbecke 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