{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T19:49:35Z","timestamp":1769197775227,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100009543","name":"Pontificia Universidad Javeriana","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>RBM20<\/jats:italic>\n                    gene, located on chromosome 10q25.2, encodes a serine\/arginine\u2010rich protein essential for post\u2010transcriptional splicing of several cardiac genes, including titin. Pathogenic variants in\n                    <jats:italic>RBM20<\/jats:italic>\n                    are increasingly recognized as causes of familial dilated cardiomyopathy (DCM) with a high risk of heart failure and sudden cardiac death. We describe a 23\u2010year\u2010old man who presented with heart failure with mildly reduced ejection fraction secondary to DCM caused by a heterozygous missense variant in the\n                    <jats:italic>RBM20<\/jats:italic>\n                    gene (c.1907G&gt;A; p.Arg636His). Comprehensive clinical evaluation excluded non\u2010genetic aetiologies, and family screening confirmed the same variant in his asymptomatic mother and in his sister who had DCM. The patient received guideline\u2010directed medical therapy and was referred for implantable cardioverter\u2010defibrillator placement due to elevated arrhythmic risk associated with the\n                    <jats:italic>RBM20<\/jats:italic>\n                    variant. This case highlights the importance of genetic testing in young patients with nonischaemic cardiomyopathy, early identification of at\u2010risk relatives, and personalized management guided by current European Society of Cardiology recommendations. Furthermore, emerging research on antisense oligonucleotide therapy and gene editing provides promising avenues for future treatment of\n                    <jats:italic>RBM20<\/jats:italic>\n                    cardiomyopathy.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.71908","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T12:29:57Z","timestamp":1768912197000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Early Onset Heart Failure due to\n                    <i>RBM20<\/i>\n                    Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9618-0744","authenticated-orcid":false,"given":"Cristian Orlando","family":"Porras Bueno","sequence":"first","affiliation":[{"name":"Departamento de Medicina Interna Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesar Augusto","family":"Balaguera","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6329-6692","authenticated-orcid":false,"given":"Alejandro","family":"Mari\u00f1o Correa","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"},{"name":"Departamento de Medicina Interna Hospital Universitario San Ignacio  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward Andr\u00e9s","family":"C\u00e1ceres M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna Pontificia Universidad Javeriana  Bogot\u00e1 Colombia"},{"name":"Departamento de Medicina Interna Hospital Universitario San Ignacio  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11897\u2010020\u201000475\u2010x"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.118.005371"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.123.004059"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2025.133350"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehad194"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.123.004355"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11040402"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.118.005700"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/2025.07.26.25332081"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ejhf.3671"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2021.07.014"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439\u2010022\u201000183\u2010z"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.124.324781"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.ade1633"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.31662\/jmaj.2025\u20100004"}],"container-title":["Clinical 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