{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T04:41:08Z","timestamp":1785300068386,"version":"3.55.0"},"reference-count":56,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T00:00:00Z","timestamp":1751587200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["CUP E83C22004130005"],"award-info":[{"award-number":["CUP E83C22004130005"]}]},{"name":"Italian Ministry of Health","award":["FSC 2014\u20132020"],"award-info":[{"award-number":["FSC 2014\u20132020"]}]},{"name":"Italian Ministry of Health","award":["PE00000019"],"award-info":[{"award-number":["PE00000019"]}]},{"name":"Italian Ministry of Health","award":["CUP E83C22004670001"],"award-info":[{"award-number":["CUP E83C22004670001"]}]},{"name":"MUR-PNRR M4C2I1.3 PE6","award":["CUP E83C22004130005"],"award-info":[{"award-number":["CUP E83C22004130005"]}]},{"name":"MUR-PNRR M4C2I1.3 PE6","award":["FSC 2014\u20132020"],"award-info":[{"award-number":["FSC 2014\u20132020"]}]},{"name":"MUR-PNRR M4C2I1.3 PE6","award":["PE00000019"],"award-info":[{"award-number":["PE00000019"]}]},{"name":"MUR-PNRR M4C2I1.3 PE6","award":["CUP E83C22004670001"],"award-info":[{"award-number":["CUP E83C22004670001"]}]},{"name":"HEAL ITALIA","award":["CUP E83C22004130005"],"award-info":[{"award-number":["CUP E83C22004130005"]}]},{"name":"HEAL ITALIA","award":["FSC 2014\u20132020"],"award-info":[{"award-number":["FSC 2014\u20132020"]}]},{"name":"HEAL ITALIA","award":["PE00000019"],"award-info":[{"award-number":["PE00000019"]}]},{"name":"HEAL ITALIA","award":["CUP E83C22004670001"],"award-info":[{"award-number":["CUP E83C22004670001"]}]},{"name":"Fondazione Francesco Balsano","award":["CUP E83C22004130005"],"award-info":[{"award-number":["CUP E83C22004130005"]}]},{"name":"Fondazione Francesco Balsano","award":["FSC 2014\u20132020"],"award-info":[{"award-number":["FSC 2014\u20132020"]}]},{"name":"Fondazione Francesco Balsano","award":["PE00000019"],"award-info":[{"award-number":["PE00000019"]}]},{"name":"Fondazione Francesco Balsano","award":["CUP E83C22004670001"],"award-info":[{"award-number":["CUP E83C22004670001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Sudden cardiac death represents an unexpected death for which a strong underlying genetic background has been described. The primary causes are identified in cardiomyopathies and channelopathies, which are heart diseases of the muscle and electrical system, respectively, without coronary artery disease, hypertension, valvular disease, and congenital heart malformations. Genetic variants, especially single nucleotide variants and short insertions\/deletions impacting essential myocardial functions, have shown that cardiomyopathies display high heritability. However, genetic heterogeneity, incomplete penetrance, and variable expression may complicate the interpretation of genetic findings, thus delaying the management of seriously at-risk patients. Moreover, recent studies show that the diagnostic yield related to genetic cardiomyopathies ranges from 28 to 40%, raising the need for further research. In this regard, investigating the occurrence of structural variants, especially copy number variants, may be crucial. Based on these considerations, this review aims to provide an overview of copy number variants identified in cardiomyopathies and discuss them, considering diagnostic yield. This review will ultimately address the necessity of incorporating copy number variants into routine genetic testing for cardiomyopathies and channelopathies, a process increasingly enabled by advances in next-generation sequencing technologies.<\/jats:p>","DOI":"10.3390\/jcdd12070258","type":"journal-article","created":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T11:20:11Z","timestamp":1751628011000},"page":"258","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3503-3318","authenticated-orcid":false,"given":"Valerio","family":"Caputo","sequence":"first","affiliation":[{"name":"Department of Life, Health and Environmental Sciences, University of L\u2019Aquila, 67100 L\u2019Aquila, Italy"},{"name":"Fondazione Francesco Balsano, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4543-7770","authenticated-orcid":false,"given":"Virginia Veronica","family":"Visconti","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0341-6461","authenticated-orcid":false,"given":"Enrica","family":"Marchionni","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Tor Vergata University Hospital, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Ferradini","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9615-7031","authenticated-orcid":false,"given":"Clara","family":"Balsano","sequence":"additional","affiliation":[{"name":"Department of Life, Health and Environmental Sciences, University of L\u2019Aquila, 67100 L\u2019Aquila, Italy"},{"name":"Fondazione Francesco Balsano, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"De Vico","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia, University of Rome Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6062-5286","authenticated-orcid":false,"given":"Leonardo","family":"Cal\u00f2","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Policlinico Casilino, 00169 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruggiero","family":"Mango","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Department of Emergency and Critical Care, Policlinico Tor Vergata, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7781-602X","authenticated-orcid":false,"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[{"name":"Fondazione Francesco Balsano, 00198 Rome, Italy"},{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy"},{"name":"Medical Genetics Unit, Tor Vergata University Hospital, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6227-4248","authenticated-orcid":false,"given":"Federica","family":"Sangiuolo","sequence":"additional","affiliation":[{"name":"Fondazione Francesco Balsano, 00198 Rome, Italy"},{"name":"Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy"},{"name":"Medical Genetics Unit, Tor Vergata University Hospital, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.31083\/j.rcm.2021.01.207","article-title":"Sudden Cardiac Death: Epidemiology, Pathogenesis and Management","volume":"22","author":"Kumar","year":"2021","journal-title":"Rev. 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