{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T21:40:30Z","timestamp":1774388430640,"version":"3.50.1"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T00:00:00Z","timestamp":1766102400000},"content-version":"vor","delay-in-days":1886,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,10,20]],"date-time":"2020-10-20T00:00:00Z","timestamp":1603152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004442","name":"National Science Centre Poland","doi-asserted-by":"publisher","award":["2011\/01\/B\/NZ4\/03455 RP"],"award-info":[{"award-number":["2011\/01\/B\/NZ4\/03455 RP"]}],"id":[{"id":"10.13039\/501100004442","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004442","name":"Narodowym Centrum Nauki","doi-asserted-by":"publisher","award":["2011\/01\/B\/NZ4\/03455 RP"],"award-info":[{"award-number":["2011\/01\/B\/NZ4\/03455 RP"]}],"id":[{"id":"10.13039\/501100004442","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>SCN5A gene mutations are described in 2% of patients with dilated cardiomyopathy (DCM) and different rhythm disturbances, including multifocal ectopic Purkinje-related premature contractions. Recent data indicate that sodium channel blockers are particularly effective monotherapy in carriers of the R222Q SCN5A variant. Our purpose is to describe the effectiveness of antiarrhythmic treatment in a family with genetically determined arrhythmogenic DCM associated with the R814W variant in the SCN5A gene. We examined a family with arrhythmogenic DCM (multifocal ectopic Purkinje-related premature contractions phenotype, atrial tachyarrhythmias, automatism, and conduction disorders) and described antiarrhythmic treatment efficacy in heart failure symptoms reduction and myocardial function improvement. We found a heterozygotic mutation R814W in SCN5A by whole exome sequencing in the proband and confirmed its presence in all affected subjects. There were two sudden cardiac deaths and one heart transplantation among first-degree relatives. The 58-year-old father and his 37-year-old daughter had full spectrum of symptoms associated with R814W SCN5A mutation. Both had implanted cardioverter defibrillator. In the father, adding mexiletine to quinidine therapy reduced ventricular arrhythmia (50\u201360% \u2192 6\u20138% of whole rhythm) and reverted long-standing atrial fibrillation to sinus rhythm. In the daughter, mexiletine and overdrive pacing were effective in ventricular arrhythmia reduction (25% \u2192 0.01%). Because of a growing number of atrial fibrillation recurrences, a reduced dose of quinidine (subsequently flecainide) was added, resulting in arrhythmia significant reduction. In both cases, antiarrhythmic effectiveness correlated with clinical improvement. In SCN5A R814W-associated DCM, a combination of Class I antiarrhythmics and overdrive pacing is an effective treatment of severe ventricular and atrial arrhythmias.<\/jats:p>","DOI":"10.1002\/ehf2.12993","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T02:02:00Z","timestamp":1603245720000},"page":"4326-4335","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["A Combination of Quinidine\/Mexiletine Reduces Arrhythmia in Dilated Cardiomyopathy in two Patients with R814W\n                    <i>SCN5A<\/i>\n                    Mutation"],"prefix":"10.1093","volume":"7","author":[{"given":"Joanna","family":"Zakrzewska-Koperska","sequence":"first","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zofia T.","family":"Bili\u0144ska","sequence":"additional","affiliation":[{"name":"Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology , ul. Alpejska 42, Warsaw, 04-628 ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gra\u017cyna T.","family":"Truszkowska","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Franaszczyk","sequence":"additional","affiliation":[{"name":"Molecular Biology Laboratory, Department of Medical Biology, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waldemar","family":"Elikowski","sequence":"additional","affiliation":[{"name":"Department of Internal Diseases, J\u00f3zef Stru\u015b Hospital , Pozna\u0144 ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grzegorz","family":"Warmi\u0144ski","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Kalin","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Urbanek","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Bodalski","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha\u0142","family":"Orczykowski","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0141ukasz","family":"Szumowski","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw , Warsaw ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Bili\u0144ska","sequence":"additional","affiliation":[{"name":"1st Department of Arrhythmia, National Institute of Cardiology , Warsaw 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