{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T12:48:30Z","timestamp":1765370910894,"version":"3.46.0"},"reference-count":6,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:00:00Z","timestamp":1758326400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T00:00:00Z","timestamp":1758326400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Oncol"],"abstract":"<jats:p>&lt;p&gt;Introduction: Primary heart tumours, particularly right atrial myxomas, are exceedingly rare. We present a particularly unique case of a young patient who was found to have a right atrial myxoma while carrying a desmoglein-2 (DSG-2) gene splice-site variant, a mutation typically associated with cardiomyopathies but not previously reported concomitantly with atrial myxoma development. Case Presentation: A young male in his twenties presented with constitutional symptoms, including dizziness and palpitations. An echocardiogram showed a 3.5\u20134 cm right atrial mass originating from the right atrium-superior vena cava junction. Surgical excision via midline sternotomy and right atriotomy was performed without complications. Histopathology confirmed a benign atrial myxoma. Given the patient\u2019s age and some clinical features suggestive of Carney complex (CNC), genetic testing was undertaken. CNC associated mutations were excluded, but a DSG-2 splice-site variant was identified. This gene is known to play a role in desmosomal integrity and has been implicated in arrhythmogenic right ventricular cardiomyopathy, hypertrophic cardiomyopathy, and dilated cardiomyopathy. However, it has not been previously associated with myxoma pathogenesis. Conclusion: This is the first documented case of a right atrial myxoma concomitantly existing with a DSG-2 variant. While the presence of this gene cannot be directly linked to the presence of a myxoma, the possibility of a genetic association is relevant. Further research and broader genetic screening in such cases can possibly uncover a potential link and aid in the further understanding of atypical cardiac tumour biology. &lt;\/p&gt;<\/jats:p>","DOI":"10.1159\/000548558","type":"journal-article","created":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T09:13:08Z","timestamp":1765357988000},"page":"1386-1392","source":"Crossref","is-referenced-by-count":0,"title":["Right Atrial Myxoma in a Young Patient with a DSG-2 Genetic Mutation: A Case Report"],"prefix":"10.1159","volume":"18","author":[{"given":"Samuel Paul","family":"Attard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8282-3507","authenticated-orcid":false,"given":"Joseph","family":"Galea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,9,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.5455\/medarh.2021.75.66-68"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcb.2005.11.003"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.06.005"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab127"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaccas.2019.11.072"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2013-201554"}],"container-title":["Case Reports in Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000548558","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T09:13:11Z","timestamp":1765357991000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000548558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,20]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000548558","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.30171157","asserted-by":"subject"}]},"ISSN":["1662-6575"],"issn-type":[{"value":"1662-6575","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,20]]}}}