{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T15:24:49Z","timestamp":1774279489806,"version":"3.50.1"},"reference-count":19,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["075-15-2020-901"],"award-info":[{"award-number":["075-15-2020-901"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein found in a structure of the sarcomere that functions as a molecular spring and provides a passive stiffness to the cardiomyocyte. Later, RBM20 mutations were also described in association with arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Here, we present a clinical case of a rare arrhythmogenic phenotype and no structural cardiac abnormalities associated with a RBM20 genetic variant of uncertain significance.<\/jats:p>","DOI":"10.3390\/genes12010094","type":"journal-article","created":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T11:52:32Z","timestamp":1610538752000},"page":"94","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8911-1927","authenticated-orcid":false,"given":"Yuriy","family":"Vakhrushev","sequence":"first","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0656-7967","authenticated-orcid":false,"given":"Alexandra","family":"Kozyreva","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrey","family":"Semenov","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Polina","family":"Sokolnikova","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara","family":"Lubimtseva","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry","family":"Lebedev","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3339-0688","authenticated-orcid":false,"given":"Natalia","family":"Smolina","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Zhuk","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubov","family":"Mitrofanova","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Vasichkina","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9349-6257","authenticated-orcid":false,"given":"Anna","family":"Kostareva","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre, Institute of Molecular biology and Genetics, 197341 Saint Petersburg, Russia"},{"name":"Department of Women\u2019s and Children\u2019s Health and Center for Molecular Medicine, Karolinska Institute, 17177 Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S0140-6736(16)31713-5","article-title":"Dilated cardiomyopathy","volume":"390","author":"Weintraub","year":"2017","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","article-title":"Contemporary defi-nitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; 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Heart Fail. Rep."},{"key":"ref_4","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":"ref_5","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s00392-016-1033-6","article-title":"Genotype-phenotype associations in dilated cardiomyopathy: Meta-analysis on more than 8000 individuals","volume":"106","author":"Kayvanpour","year":"2017","journal-title":"Clin. Res. Cardiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/j.jacc.2009.05.038","article-title":"Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy","volume":"54","author":"Brauch","year":"2009","journal-title":"J. Am. Coll. 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Des."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fmolb.2018.00105","article-title":"Alternative Splicing Regulator RBM20 and Cardiomyopathy","volume":"5","author":"Watanabe","year":"2018","journal-title":"Front. Mol. Biosci."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Liss, M., Radke, M.H., Eckhard, J., Neuenschwander, M., Dauksaite, V., Von Kries, J.-P., and Gotthardt, M. (2018). Drug discovery with an RBM20 dependent titin splice reporter identifies cardenolides as lead structures to improve cardiac filling. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0198492"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"3419","DOI":"10.1172\/JCI74523","article-title":"RNA-binding protein RBM20 represses splicing to or-chestrate cardiac pre-mRNA processing","volume":"124","author":"Maatz","year":"2014","journal-title":"J. Clin. 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