{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T23:56:11Z","timestamp":1788825371492,"version":"build-2803163510"},"reference-count":34,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, inherited heart rhythm disorder that is caused by variants in genes responsible for cardiac calcium homeostasis. The aim of this study was to analyze different genotype-specific clinical manifestations of this disease. Methods and Results: We analyzed five CPVT cases from our institution in the context of specific patient characteristics and genotype\u2013phenotype correlations. In this cohort, three of the index patients were male. The median age at diagnosis was 11 (11\u201330) years, and median age at disease onset was 12 (12\u201333) years. Four index patients suffered from syncope, while one female index patient suffered from out-of-hospital cardiac arrest. Two index patients experienced concomitant atrial flutter and atrial fibrillation. Three patients received an implantable cardioverter defibrillator and one patient received an event recorder. All index patients had causative genetic variants in the RYR2-gene. Conclusions: This study presents various phenotypic presentations of patients with CPVT harboring different pathogenic variants in the RYR2 gene, some of which have not previously been described in published studies. Syncope was the most prevalent symptom on admission. Adjustment of beta-blocker therapy may be necessary due to side effects. Moreover, our work further highlights the common occurrence of atrial tachyarrhythmias in these patients.<\/jats:p>","DOI":"10.3390\/jcm13010047","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T05:36:12Z","timestamp":1703136972000},"page":"47","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Catecholaminergic Polymorphic Ventricular Tachycardia: Multiple Clinical Presentations of a Genetically Determined Disease"],"prefix":"10.3390","volume":"13","author":[{"given":"Stjepan","family":"Jurisic","sequence":"first","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5586-3418","authenticated-orcid":false,"given":"Argelia","family":"Medeiros-Domingo","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland"},{"name":"Cardiogenetics\u2014Swiss DNAlysis, 8600 Dubendorf, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Berger","sequence":"additional","affiliation":[{"name":"Divison of Pediatric Cardiology, Pediatric Heart Center, Department of Surgery, University Children\u2019s Hospital Zurich, 8032 Zurich, Switzerland"},{"name":"Children\u2019s Research Center, University Children\u2019s Hospital Zurich, 8032 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Balmer","sequence":"additional","affiliation":[{"name":"Divison of Pediatric Cardiology, Pediatric Heart Center, Department of Surgery, University Children\u2019s Hospital Zurich, 8032 Zurich, Switzerland"},{"name":"Children\u2019s Research Center, University Children\u2019s Hospital Zurich, 8032 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Brunckhorst","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5972-0596","authenticated-orcid":false,"given":"Frank","family":"Ruschitzka","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland"},{"name":"Center for Translational and Experimental Cardiology (CTEC), Department of Cardiology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1896-0803","authenticated-orcid":false,"given":"Ardan M.","family":"Saguner","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland"},{"name":"Center for Translational and Experimental Cardiology (CTEC), Department of Cardiology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4748-0158","authenticated-orcid":false,"given":"Firat","family":"Duru","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, University Hospital Zurich, 8091 Zurich, Switzerland"},{"name":"Center for Translational and Experimental Cardiology (CTEC), Department of Cardiology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland"},{"name":"Center for Integrative Human Physiology, University of Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,21]]},"reference":[{"key":"ref_1","first-page":"28","article-title":"Catecholamine-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: Report of four cases","volume":"4","author":"Coumel","year":"1978","journal-title":"Br. 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