{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:07:55Z","timestamp":1787317675134,"version":"build-2736575974"},"reference-count":13,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>We present the case of a 46-year-old man with a history of complex ventricular arrhythmias preceding the development of asymptomatic mild left ventricular dysfunction, who presented with acute-onset heart failure and was ultimately diagnosed with dilated cardiomyopathy. Genetic testing identified a novel, likely pathogenic mutation in exon 4 of the BAG3 gene (NM_004281, c.1128del, (p.(Ser377AlafsTer47)), not previously reported in the literature. Given the presence of multiple clinical features indicative of a poor prognosis, he underwent prophylactic placement of a subcutaneous implantable cardioverter-defibrillator. The clinical presentation of this novel BAG3 mutation suggests that it may be associated with a significant arrhythmic phenotype. This case underscores the importance of close follow-up and genetic testing in patients presenting with mild left ventricular dysfunction and ventricular arrhythmias.<\/jats:p>","DOI":"10.3390\/jcdd12040121","type":"journal-article","created":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T01:59:36Z","timestamp":1743386376000},"page":"121","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0459-3056","authenticated-orcid":false,"given":"Paolo","family":"Pastori","sequence":"first","affiliation":[{"name":"Cardiology Unit, Medical and Diagnostics Department, Fidenza Hospital, Azienda USL of Parma, 43036 Fidenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2110-8961","authenticated-orcid":false,"given":"Cristina","family":"Balla","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Department of Translational Medicine, Sant\u2019Anna University Hospital, University of Ferrara, Via Aldo Moro 8, 44124 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Rasia","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Medical and Diagnostics Department, Fidenza Hospital, Azienda USL of Parma, 43036 Fidenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Lo Jacono","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Medical and Diagnostics Department, Fidenza Hospital, Azienda USL of Parma, 43036 Fidenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clelia","family":"Guerra","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Medical and Diagnostics Department, Fidenza Hospital, Azienda USL of Parma, 43036 Fidenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Schinin\u00e0","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Department of Mother and Child, Sant\u2019Anna University Hospital, Via Aldo Moro 8, 44124 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9551-057X","authenticated-orcid":false,"given":"Francesca","family":"Gualandi","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Department of Mother and Child, Sant\u2019Anna University Hospital, Via Aldo Moro 8, 44124 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5285-7140","authenticated-orcid":false,"given":"Matteo","family":"Bertini","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Department of Translational Medicine, Sant\u2019Anna University Hospital, University of Ferrara, Via Aldo Moro 8, 44124 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Tortorella","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Medical and Diagnostics Department, Fidenza Hospital, Azienda USL of Parma, 43036 Fidenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1161\/CIRCRESAHA.116.309396","article-title":"Dilated cardiomyopathy: Genetic determinants and mechanisms","volume":"121","author":"McNally","year":"2017","journal-title":"Circ. 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Heart J."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1161\/CIRCULATIONAHA.120.053033","article-title":"Evidence-Based Assessment of Genes in Dilated Cardiomyopathy","volume":"144","author":"Jordan","year":"2021","journal-title":"Circulation"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s10741-019-09899-7","article-title":"Advances in the role and mechanism of BAG3 in dilated cardiomyopathy","volume":"26","author":"Liu","year":"2021","journal-title":"Heart Fail. Rev."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1016\/j.jacc.2018.08.2181","article-title":"Dilated cardiomyopathy due to BLC2-associated athanogene 3 (BAG3) mutations","volume":"72","author":"Cuenca","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_10","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":"ref_11","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s10741-015-9487-6","article-title":"BAG3: A new player in the heart failure paradigm","volume":"20","author":"Knezevic","year":"2015","journal-title":"Heart Fail. Rev."},{"key":"ref_12","first-page":"122","article-title":"The Multifunctional Protein BAG3 A Novel Therapeutic Target in Cardiovascular Disease","volume":"3","author":"Myers","year":"2018","journal-title":"J. Am. Coll. Cardiol. Basic Trans. 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