{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T17:54:12Z","timestamp":1772474052937,"version":"3.50.1"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:00:00Z","timestamp":1770336000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Dilated cardiomyopathy has a diverse aetiology. Around 20% of cases have an underlying genetic cause. A subset of patients with dilated cardiomyopathy is prone to arrhythmia (\u2018arrhythmogenic\u2019 cardiomyopathy). (Likely) Pathogenic variants of SCN5A, the gene coding for the alpha subunit of the main cardiac sodium voltage-gated channel, are a known cause of this subset.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>A 17-year-old male presents with new-onset severe left ventricular systolic dysfunction with atrial flutter and significant ventricular ectopy. Despite medical therapy, his management was challenging. A LifeVest was fitted to allow outpatient optimization of his medications whilst bridging to a decision about implantable cardioverter defibrillator implantation. Specialist genetic testing revealed a pathogenic variant in SCN5A (p.R814W) leading to gain of function. This prompted the use of a sodium channel blocker, hydroquinidine. Hydroquinidine resulted in complete resolution of arrhythmia and improvement of ventricular size and function. Its effect was confirmed on accidental withdrawal of hydroquinidine due to supply issues, resulting in recurrence of atrial arrhythmia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This atypical presentation of a cardiomyopathy was driven, at least in part, by the patient\u2019s extensive arrhythmia. Previous research has shown variable, short-term effects of sodium channel antagonists in familial p.R814W variants. Contrastingly, in our patient, sustained and long-term improvement was observed with the use of hydroquinidine. Close multidisciplinary team working and early genetic testing facilitated personalized care in our patient\u2019s case, resulting in a favourable outcome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytag100","type":"journal-article","created":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T12:34:34Z","timestamp":1770122074000},"source":"Crossref","is-referenced-by-count":0,"title":["Resolution of severe dilated cardiomyopathy with significant arrhythmia burden using hydroquinidine, in addition to guideline-directed medical therapy, in a patient with a pathogenic\n                    <i>SCN5A<\/i>\n                    variant: a case report"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-5711-4039","authenticated-orcid":false,"given":"Rebecca L M","family":"Griffiths","sequence":"first","affiliation":[{"name":"Cardiovascular and Genomics Research Institute, School of Health and Medical Sciences, City St George\u2019s, University of London , Tooting Campus, Cranmer Terrace, London SW17 0RE, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6210-2203","authenticated-orcid":false,"given":"Peter J","family":"Cowburn","sequence":"additional","affiliation":[{"name":"Southampton General Hospital Department of Cardiology, , Tremona Road, Southampton, Hampshire SO16 6YD, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4566-8042","authenticated-orcid":false,"given":"Catherine","family":"Mercer","sequence":"additional","affiliation":[{"name":"Southampton General Hospital Department of Genetics, , Tremona Road, Southampton, Hampshire SO16 6YD ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0616-2353","authenticated-orcid":false,"given":"Michael","family":"Papadakis","sequence":"additional","affiliation":[{"name":"Cardiovascular and Genomics Research Institute, School of Health and Medical Sciences, City St George\u2019s, University of London , Tooting Campus, Cranmer Terrace, London SW17 0RE, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8731-2853","authenticated-orcid":false,"given":"Elijah R","family":"Behr","sequence":"additional","affiliation":[{"name":"Cardiovascular and Genomics Research Institute, School of Health and Medical Sciences, City St George\u2019s, University of London , Tooting Campus, Cranmer Terrace, London SW17 0RE, United 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