{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T14:24:35Z","timestamp":1762957475179,"version":"3.41.2"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T00:00:00Z","timestamp":1720656000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary arrhythmia disorder characterized by syncope or sudden cardiac death and typically caused by a gain-of-function of the Ryanodine Receptor Type 2 (RyR2) mutation. Calmodulin is a calcium-binding protein responsible for many intracellular signalling pathways and disruptions in function or regulation may lead to potentially fatal arrhythmias. We present a case of a young patient with CPVT found to have an unusual, potentially causative, Calmodulin 2\u2014a protein coding gene (CALM2) mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 21-year-old female with autism was brought to the ED following cardiac arrest. Bidirectional ventricular tachycardia was captured on electrocardiogram. Propranolol was initiated, and patient had no further episodes of ventricular arrhythmia. A subcutaneous implantable cardioverter defibrillator (ICD) was implanted, and further genetics testing was done. Rapid Whole Genome Sequencing (PGnome\u00ae\u2014RAPID) resulted heterozygous variant of uncertain significance in CALM2 gene NM_001743.5 for variant c.136G&amp;gt;A.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>To the authors\u2019 knowledge, this is the third known record of such mutation in accordance with the International Calmodulin Registry (n = 74). Identification of CALM mutations can help advance the understanding of genetic underpinnings of arrhythmias and underscore necessity of genetic screening and personalized treatment strategies. Subcutaneous ICDs offer a promising therapeutic option while minimizing risks associated with traditional transvenous ICDs.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytae340","type":"journal-article","created":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T02:57:15Z","timestamp":1720666635000},"source":"Crossref","is-referenced-by-count":2,"title":["A rare case report of catecholaminergic polymorphic ventricular tachycardia with an uncommon <i>CALM2<\/i> mutation"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3971-6941","authenticated-orcid":false,"given":"Kimberly R","family":"Ding","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Harbor-UCLA Medical Center , 1000 W Carson St, Torrance, CA 90509 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo L","family":"de la Rosa","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Harbor-UCLA Medical Center , Torrance, CA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duc","family":"Do","sequence":"additional","affiliation":[{"name":"Department of Electrophysiology, Ronald-Reagan UCLA Medical Center , Los Angeles, CA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Harbor-UCLA Medical Center , Torrance, CA , USA"},{"name":"Department of Cardiology, The Lundquist Institute , Torrance, CA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,7,11]]},"reference":[{"year":"2022","author":"Napolitano","key":"2024080510240270600_ytae340-B1"},{"key":"2024080510240270600_ytae340-B2","doi-asserted-by":"crossref","first-page":"94","DOI":"10.3390\/medicina60010094","article-title":"Inherited arrhythmias in the pediatric population: an updated overview","volume":"60","author":"Mariani","year":"2024","journal-title":"Medicina (B Aires)"},{"key":"2024080510240270600_ytae340-B3","doi-asserted-by":"crossref","first-page":"e12512","DOI":"10.1111\/anec.12512","article-title":"Catecholaminergic polymorphic ventricular tachycardia, an update","volume":"23","author":"P\u00e9rez-Riera","year":"2018","journal-title":"Anna Noninvasive Electrocardiol"},{"key":"2024080510240270600_ytae340-B4","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1161\/CIRCEP.111.962027","article-title":"Catecholaminergic polymorphic ventricular tachycardia","volume":"5","author":"Leenhardt","year":"2012","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"2024080510240270600_ytae340-B5","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"2022 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"43","author":"Zeppenfeld","year":"2022","journal-title":"Eur Heart J"},{"key":"2024080510240270600_ytae340-B6","doi-asserted-by":"crossref","first-page":"92","DOI":"10.3389\/fcvm.2019.00092","article-title":"CPVT: arrhythmogenesis, therapeutic management, and future perspectives. A brief review of the literature","volume":"6","author":"Baltogiannis","year":"2019","journal-title":"Front Cardiovascular Med"},{"key":"2024080510240270600_ytae340-B7","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1016\/j.hrthm.2013.05.014","article-title":"HRS\/EHS\/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRS, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013","volume":"10","author":"Priori","year":"2013","journal-title":"Heart Rhythm"},{"key":"2024080510240270600_ytae340-B8","doi-asserted-by":"crossref","first-page":"2964","DOI":"10.1093\/eurheartj\/ehz311","article-title":"Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry","volume":"40","author":"Crotti","year":"2019","journal-title":"Eur Heart Journal"},{"key":"2024080510240270600_ytae340-B9","doi-asserted-by":"crossref","first-page":"e011387","DOI":"10.1161\/CIRCEP.122.011387","article-title":"Novel calmodulin variant p. E46K associated with severe catecholaminergic polymorphic ventricular tachycardia produces robust arrhythmogenicity in human induced pluripotent stem cell\u2013derived cardiomyocytes","volume":"16","author":"Gao","year":"2023","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"2024080510240270600_ytae340-B10","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1093\/eurheartj\/ehab687","article-title":"Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death","volume":"43","author":"Walsh","year":"2022","journal-title":"European Heart J"},{"key":"2024080510240270600_ytae340-B11","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.hrthm.2013.10.027","article-title":"Outcomes of defibrillator therapy in catecholaminergic polymorphic ventricular tachycardia","volume":"11","author":"Roses-Noguer","year":"2014","journal-title":"Heart Rhythm"},{"key":"2024080510240270600_ytae340-B12","doi-asserted-by":"crossref","first-page":"429","DOI":"10.4330\/wjc.v9.i5.429","article-title":"Antitachycardia pacing programming in implantable cardioverter defibrillator: a systematic review","volume":"9","author":"De Maria","year":"2017","journal-title":"World J Cardiol"},{"key":"2024080510240270600_ytae340-B13","doi-asserted-by":"crossref","first-page":"536","DOI":"10.3390\/jpm12040536","article-title":"A. 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