{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:27:50Z","timestamp":1792290470725,"version":"4.4.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,30]],"date-time":"2006-01-30T00:00:00Z","timestamp":1138579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiovasc electrophysiol"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:p> <jats:bold>\n            <jats:italic>Introduction:<\/jats:italic> Loss\u2010of\u2010function mutations in the <jats:italic>SCN5A<\/jats:italic> gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for progressive cardiac conduction disease (inherited Len\u00e8gre disease). In an attempt to clarify the frontier between these two entities, we have characterized cardiac conduction defect and its evolution with aging in a cohort of 78 patients carrying a <jats:italic>SCN5A<\/jats:italic> mutation linked to Brugada syndrome.<\/jats:bold> <\/jats:p><jats:p> <jats:bold>\n            <jats:italic>Methods and Results:<\/jats:italic> Families were included in the study if a <jats:italic>SCN5A<\/jats:italic> mutation was identified in a BS proband and if at least two family members were mutation carriers. Sixteen families met the study criteria, representing 78 carriers. Resting ECG showed a spontaneous BS ECG pattern in 28 of 78 (36%) gene carriers. Intraventricular conduction anomalies were identified in 59 of 78 gene carriers including complete (17) or incomplete (24) right bundle branch block, right bundle branch block plus hemiblock (6), left bundle branch block (1), hemiblock (1), and parietal block (10). PR and QRS duration were longer in the gene carrier cohort in comparison with their relatives carrying no mutation. Finally, in the gene carrier cohort conduction defect progressively aggravated with aging leading in five occasions to pacemaker implantations.<\/jats:bold> <\/jats:p><jats:p> <jats:bold>\n            <jats:italic>Conclusion:<\/jats:italic> The present study shows that the most common phenotype of gene carriers of a BS\u2010type <jats:italic>SCN5A<\/jats:italic> mutation is progressive cardiac conduction defects similar to the Len\u00e8gre disease phenotype. In consequence, we propose that carriers of a <jats:italic>SCN5A<\/jats:italic> mutation need a clinical and ECG follow\u2010up because of the risk associated with severe conduction defects.<\/jats:bold> <\/jats:p>","DOI":"10.1111\/j.1540-8167.2006.00349.x","type":"journal-article","created":{"date-parts":[[2006,1,30]],"date-time":"2006-01-30T09:23:50Z","timestamp":1138613030000},"page":"270-275","source":"Crossref","is-referenced-by-count":97,"title":["Progressive Cardiac Conduction Defect is the Prevailing Phenotype in Carriers of a Brugada Syndrome <i>SCN5A<\/i> Mutation"],"prefix":"10.1111","volume":"17","author":[{"given":"VINCENT","family":"PROBST","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MARIE","family":"ALLOUIS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FREDERIC","family":"SACHER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SABINE","family":"PATTIER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DOMINIQUE","family":"BABUTY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PHILIPE","family":"MABO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JACQUES","family":"MANSOURATI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JACQUES","family":"VICTOR","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JEAN\u2010MICHEL","family":"NGUYEN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JEAN\u2010JACQUES","family":"SCHOTT","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PIERRE","family":"BOISSEAU","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DENIS","family":"ESCANDE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HERV\u00c9","family":"LE 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