{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T12:38:22Z","timestamp":1763728702124,"version":"3.44.0"},"reference-count":45,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,14]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>Arrhythmogenic cardiomyopathy is a non-ischaemic cardiomyopathy characterised by the presence of myocardial dysfunction and inherited conduction disease that predisposes patients to malignant ventricular arrhythmias and sudden cardiac death. There is a growing awareness of the diverse phenotypic presentation of arrhythmogenic cardiomyopathy, which may demonstrate preferential involvement of the left, right or both ventricles. A subset of arrhythmogenic cardiomyopathy may be due to mutations of desmosomes, intercellular junctions of the myocardium that promote structural and electrical integrity. Mutations of desmoplakin, encoded by the <jats:italic>DSP<\/jats:italic> gene and a critical constituent protein of desmosomes, have been implicated in the onset of arrhythmogenic cardiomyopathy. We present a structured case report of desmoplakin arrhythmogenic cardiomyopathy secondary to novel heterozygous <jats:italic>DSP<\/jats:italic> mutations (c.1061T&gt;C\u2009and c.795G&gt;C) manifesting as early onset non-ischaemic cardiomyopathy and recurrent ventricular tachycardia refractory to multiple modalities of therapy, including oral antiarrhythmics, cardiac ablation and bilateral sympathectomy, as well as frequent implantable cardioverter-defibrillator discharges.<\/jats:p>","DOI":"10.1136\/bcr-2023-259308","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T12:50:37Z","timestamp":1708519837000},"page":"e259308","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Heterozygous desmoplakin (<i>DSP<\/i>) variants presenting with early onset cardiomyopathy and refractory ventricular tachycardia"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3850-834X","authenticated-orcid":false,"given":"Akshay","family":"Mathavan","sequence":"first","affiliation":[{"name":"Internal Medicine, University of Florida, Gainesville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urszula","family":"Krekora","sequence":"additional","affiliation":[{"name":"College of Medicine, University of Central Florida, Orlando, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Belaunzaran Dominguez","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Florida, Gainesville, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3496-2542","authenticated-orcid":false,"given":"Akash","family":"Mathavan","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Florida, Gainesville, 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