{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T11:07:46Z","timestamp":1788433666800,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a novel\n                    <jats:italic>SCN5A<\/jats:italic>\n                    missense variant (c.655C&gt;T (p.Arg219Cys)) in a family with non\u2010dilated left ventricular cardiomyopathy, broadening the spectrum of\n                    <jats:italic>SCN5A<\/jats:italic>\n                    \u2010related structural cardiac diseases. The proband, a 35\u2010year\u2010old man, presented with embolic stroke and myocardial fibrosis in the absence of ventricular dilation. He exhibited a significant arrhythmic burden, including premature ventricular complexes and a non\u2010sustained ventricular tachycardia, prompting prophylactic subcutaneous defibrillator implantation. Genetic testing identified a heterozygous\n                    <jats:italic>SCN5A<\/jats:italic>\n                    variant, also present in five relatives with myocardial fibrosis of variable extent on cardiac magnetic resonance imaging. The variant affects a highly conserved residue within the voltage\u2010sensing domain of the Nav1.5 channel and, according to ACMG criteria, is best classified as a variant of uncertain significance. Nevertheless, its segregation with disease and the established functional importance of this region of Nav1.5 suggest a possible role in the observed phenotype. This report highlights a structural cardiomyopathy phenotype potentially linked to\n                    <jats:italic>SCN5A<\/jats:italic>\n                    dysfunction and supports the growing recognition of overlap between ion channelopathies and cardiomyopathies.\n                  <\/jats:p>","DOI":"10.1111\/cge.70092","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T01:59:38Z","timestamp":1760579978000},"page":"767-771","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel\n                    <scp>\n                      <i>SCN5A<\/i>\n                    <\/scp>\n                    Missense Variant Associated With Familial Non\u2010Dilated Left Ventricular Cardiomyopathy"],"prefix":"10.1111","volume":"109","author":[{"given":"Vincenzo","family":"Castiglione","sequence":"first","affiliation":[{"name":"Health Science Interdisciplinary Center Scuola Superiore Sant'anna  Pisa Italy"},{"name":"Cardiology Division Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Logiacco","sequence":"additional","affiliation":[{"name":"Cardiology Division Universit\u00e0 Degli Studi di Bari \u201cAldo Moro\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Barison","sequence":"additional","affiliation":[{"name":"Cardiology Division Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Vittorini","sequence":"additional","affiliation":[{"name":"Cardiology Division Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoletta","family":"Botto","sequence":"additional","affiliation":[{"name":"Cardiology Division Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Emdin","sequence":"additional","affiliation":[{"name":"Health Science Interdisciplinary Center Scuola Superiore Sant'anna  Pisa Italy"},{"name":"Cardiology Division Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Todiere","sequence":"additional","affiliation":[{"name":"Cardiology Division Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.120.053033"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacep.2018.03.006"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0038331"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/cimb45030141"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehad194"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.25450"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmg.2024.01.009"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.24335"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_11_1","unstructured":"Gruppo di Lavoro SIGU GdL di Genetica Molecolare \u201cIndicazioni per la refertazione di analisi genetiche eseguite mediante metodica Next\u2010Generation\u2010 Sequencing (NGS) \u201d2022."},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2016.01.160"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.121.003481"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70092","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70092","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:16:07Z","timestamp":1775801767000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,15]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1111\/cge.70092"],"URL":"https:\/\/doi.org\/10.1111\/cge.70092","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70092\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70092\/v1\/review4","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70092\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70092\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70092\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,15]]},"assertion":[{"value":"2025-08-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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