{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T20:04:02Z","timestamp":1793217842458,"version":"4.5.0"},"reference-count":111,"publisher":"Elsevier BV","issue":"20","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":391,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100008810","name":"NSW Ministry of Health","doi-asserted-by":"publisher","award":["RG194194"],"award-info":[{"award-number":["RG194194"]}],"id":[{"id":"10.13039\/501100008810","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL130423"],"award-info":[{"award-number":["R01HL130423"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL135093"],"award-info":[{"award-number":["R01HL135093"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL148167-01A1"],"award-info":[{"award-number":["R01HL148167-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["669387"],"award-info":[{"award-number":["669387"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP19134"],"award-info":[{"award-number":["GGP19134"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American College of Cardiology"],"published-print":{"date-parts":[[2021,5]]},"DOI":"10.1016\/j.jacc.2020.12.073","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:11:22Z","timestamp":1621296682000},"page":"2592-2612","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":79,"title":["Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia"],"prefix":"10.1016","volume":"77","author":[{"given":"Silvia G.","family":"Priori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Mazzanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Demetrio J.","family":"Santiago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deni","family":"Kukavica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Trancuccio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason C.","family":"Kovacic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacc.2020.12.073_bib1","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1161\/01.CIR.103.2.196","article-title":"Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia","volume":"103","author":"Priori","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.12.073_bib2","first-page":"28","article-title":"Catecholamine-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases","volume":"40","author":"Coumel","year":"1978","journal-title":"Br Heart J"},{"key":"10.1016\/j.jacc.2020.12.073_bib3","first-page":"199","article-title":"Ventricular tachycardia as the result of the administration of digitalis","volume":"9","author":"Schwensen","year":"1922","journal-title":"Heart"},{"key":"10.1016\/j.jacc.2020.12.073_bib4","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1161\/CIRCULATIONAHA.108.829267","article-title":"Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia","volume":"119","author":"Hayashi","year":"2009","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.12.073_bib5","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1161\/CIRCEP.114.002217","article-title":"Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry","volume":"8","author":"Roston","year":"2015","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib6","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.amjcard.2015.06.030","article-title":"Diagnostic approach to unexplained cardiac arrest (from the FIVI-Gen study)","volume":"116","author":"Jimenez-Jaimez","year":"2015","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib7","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","volume":"36","author":"Priori","year":"2015","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2020.12.073_bib8","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1016\/j.hrthm.2011.01.048","article-title":"Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia","volume":"8","author":"Sy","year":"2011","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2020.12.073_bib9","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/europace\/eur245","article-title":"HRS\/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)","volume":"13","author":"Ackerman","year":"2011","journal-title":"Europace"},{"key":"10.1016\/j.jacc.2020.12.073_bib10","doi-asserted-by":"crossref","first-page":"22A","DOI":"10.1016\/S0735-1097(85)80460-5","article-title":"Cellular electrophysiology of digitalis toxicity","volume":"5","author":"Rosen","year":"1985","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib11","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1161\/01.RES.41.4.415","article-title":"Action potentials, afterpotentials, and arrhythmias","volume":"41","author":"Cranefield","year":"1977","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib12","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1161\/01.RES.46.1.117","article-title":"Effects of tetrodotoxin, lidocaine, verapamil, and AHR-2666 on Ouabain-induced delayed afterdepolarizations in canine Purkinje fibers","volume":"46","author":"Rosen","year":"1980","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib13","first-page":"H1796","article-title":"Mechanisms underlying early and delayed afterdepolarizations induced by catecholamines","volume":"258","author":"Priori","year":"1990","journal-title":"Am J Physiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib14","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1161\/01.CIR.78.1.178","article-title":"Delayed afterdepolarizations elicited in\u00a0vivo by left stellate ganglion stimulation","volume":"78","author":"Priori","year":"1988","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.12.073_bib15","doi-asserted-by":"crossref","first-page":"2035","DOI":"10.1016\/S0735-1097(99)00461-1","article-title":"Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts","volume":"34","author":"Swan","year":"1999","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib16","doi-asserted-by":"crossref","DOI":"10.1126\/scisignal.aai8842","article-title":"A\u00a0cryo-EM-based model of phosphorylation- and FKBP12.6-mediated allosterism of the cardiac ryanodine receptor","volume":"10","author":"Dhindwal","year":"2017","journal-title":"Sci Signal"},{"key":"10.1016\/j.jacc.2020.12.073_bib17","doi-asserted-by":"crossref","first-page":"C1","DOI":"10.1152\/ajpcell.1983.245.1.C1","article-title":"Calcium-induced release of calcium from the cardiac sarcoplasmic reticulum","volume":"245","author":"Fabiato","year":"1983","journal-title":"Am J Physiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib18","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1161\/01.RES.0000235869.50747.e1","article-title":"Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model","volume":"99","author":"Liu","year":"2006","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib19","doi-asserted-by":"crossref","first-page":"H1625","DOI":"10.1152\/ajpheart.00696.2010","article-title":"Targeting intracellular calcium cycling in catecholaminergic polymorphic ventricular tachycardia: a theoretical investigation","volume":"301","author":"Sung","year":"2011","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib20","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/978-3-319-55858-5_8","article-title":"Structural details of the ryanodine receptor calcium release channel and its gating mechanism","volume":"981","author":"Willegems","year":"2017","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jacc.2020.12.073_bib21","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0092-8674(03)00434-3","article-title":"FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death","volume":"113","author":"Wehrens","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.jacc.2020.12.073_bib22","doi-asserted-by":"crossref","first-page":"d671","DOI":"10.2741\/ikemoto","article-title":"Regulation of calcium release by interdomain interaction within ryanodine receptors","volume":"7","author":"Ikemoto","year":"2002","journal-title":"Front Biosci"},{"key":"10.1016\/j.jacc.2020.12.073_bib23","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1161\/CIRCRESAHA.109.209312","article-title":"Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor","volume":"106","author":"Uchinoumi","year":"2010","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib24","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.126112","article-title":"Ryanodine receptor-bound calmodulin is essential to protect against catecholaminergic polymorphic ventricular tachycardia","volume":"4","author":"Nakamura","year":"2019","journal-title":"JCI Insight"},{"key":"10.1016\/j.jacc.2020.12.073_bib25","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1161\/01.RES.0000192146.85173.4b","article-title":"Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death","volume":"97","author":"Jiang","year":"2005","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib26","doi-asserted-by":"crossref","first-page":"13062","DOI":"10.1073\/pnas.0402388101","article-title":"RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)","volume":"101","author":"Jiang","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.12.073_bib27","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/S0092-8674(00)80847-8","article-title":"PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts","volume":"101","author":"Marx","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.jacc.2020.12.073_bib28","doi-asserted-by":"crossref","first-page":"30256","DOI":"10.1074\/jbc.M703510200","article-title":"Functional consequence of protein kinase A-dependent phosphorylation of the cardiac ryanodine receptor: sensitization of store overload-induced Ca2+ release","volume":"282","author":"Xiao","year":"2007","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jacc.2020.12.073_bib29","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1161\/01.RES.0000194329.41863.89","article-title":"Ca2+\/calmodulin-dependent protein kinase modulates cardiac ryanodine receptor phosphorylation and sarcoplasmic reticulum Ca2+ leak in heart failure","volume":"97","author":"Ai","year":"2005","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib30","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1161\/01.RES.0000252828.17939.00","article-title":"Increasing ryanodine receptor open probability alone does not produce arrhythmogenic calcium waves: threshold sarcoplasmic reticulum calcium content is required","volume":"100","author":"Venetucci","year":"2007","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib31","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1016\/j.bpj.2010.06.042","article-title":"So little source, so much sink: requirements for afterdepolarizations to propagate in tissue","volume":"99","author":"Xie","year":"2010","journal-title":"Biophys J"},{"key":"10.1016\/j.jacc.2020.12.073_bib32","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1016\/j.jacc.2020.02.033","article-title":"Natural history and risk stratification in Andersen-Tawil syndrome type 1","volume":"75","author":"Mazzanti","year":"2020","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib33","doi-asserted-by":"crossref","first-page":"222","DOI":"10.2174\/1573403X10666140514102528","article-title":"Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome","volume":"10","author":"Kukla","year":"2014","journal-title":"Curr Cardiol Rev"},{"key":"10.1016\/j.jacc.2020.12.073_bib34","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1161\/CIRCRESAHA.107.148064","article-title":"Arrhythmogenic mechanisms in a mouse model of catecholaminergic polymorphic ventricular tachycardia","volume":"101","author":"Cerrone","year":"2007","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib35","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.hrthm.2010.11.038","article-title":"Bidirectional ventricular tachycardia: ping pong in the His-Purkinje system","volume":"8","author":"Baher","year":"2011","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2020.12.073_bib36","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/s10038-020-0738-6","article-title":"Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships","volume":"65","author":"Olubando","year":"2020","journal-title":"J\u00a0Hum Genet"},{"key":"10.1016\/j.jacc.2020.12.073_bib37","article-title":"Yield of the RYR2 genetic test in suspected catecholaminergic polymorphic ventricular tachycardia and implications for test interpretation","volume":"11","author":"Kapplinger","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.jacc.2020.12.073_bib38","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.hlc.2019.10.013","article-title":"50 years of catecholaminergic polymorphic ventricular tachycardia (CPVT) \u2014 time to explore the dark side of the moon","volume":"29","author":"Pflaumer","year":"2020","journal-title":"Heart Lung Circ"},{"key":"10.1016\/j.jacc.2020.12.073_bib39","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.jacc.2020.12.073_bib40","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1161\/CIRCRESAHA.110.226845","article-title":"Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis","volume":"108","author":"Priori","year":"2011","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib41","doi-asserted-by":"crossref","first-page":"18309","DOI":"10.1073\/pnas.0706573104","article-title":"Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death","volume":"104","author":"Jiang","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.12.073_bib42","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1086\/324565","article-title":"A\u00a0missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel","volume":"69","author":"Lahat","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jacc.2020.12.073_bib43","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1016\/S0006-3495(04)74271-X","article-title":"The role of calsequestrin, triadin, and junctin in conferring cardiac ryanodine receptor responsiveness to luminal calcium","volume":"86","author":"Gyorke","year":"2004","journal-title":"Biophys J"},{"key":"10.1016\/j.jacc.2020.12.073_bib44","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/j.jmb.2007.08.055","article-title":"Characterization of human cardiac calsequestrin and its deleterious mutants","volume":"373","author":"Kim","year":"2007","journal-title":"J\u00a0Mol Biol"},{"key":"10.1016\/j.jacc.2020.12.073_bib45","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1161\/CIRCULATIONAHA.120.045723","article-title":"An international multicenter evaluation of inheritance patterns, arrhythmic risks, and underlying mechanisms of CASQ2-catecholaminergic polymorphic ventricular tachycardia","volume":"142","author":"Ng","year":"2020","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.12.073_bib46","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1161\/01.RES.0000220647.93982.08","article-title":"Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death","volume":"98","author":"Terentyev","year":"2006","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib47","doi-asserted-by":"crossref","first-page":"11759","DOI":"10.1073\/pnas.1932318100","article-title":"Calsequestrin determines the functional size and stability of cardiac intracellular calcium stores: mechanism for hereditary arrhythmia","volume":"100","author":"Terentyev","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.12.073_bib48","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.yjmcc.2011.09.020","article-title":"Calsequestrin 2 deletion shortens the refractoriness of Ca(2)(+) release and reduces rate-dependent Ca(2)(+)-alternans in intact mouse hearts","volume":"52","author":"Kornyeyev","year":"2012","journal-title":"J\u00a0Mol Cell Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib49","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1161\/CIRCRESAHA.108.171660","article-title":"Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model","volume":"103","author":"Rizzi","year":"2008","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib50","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1042\/BJ20080163","article-title":"Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin","volume":"413","author":"Valle","year":"2008","journal-title":"Biochem J"},{"key":"10.1016\/j.jacc.2020.12.073_bib51","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.yexcr.2008.11.006","article-title":"Calsequestrin isoforms localize to different ER subcompartments: evidence for polymer and heteropolymer-dependent localization","volume":"315","author":"Milstein","year":"2009","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib52","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.yjmcc.2010.05.012","article-title":"Rough endoplasmic reticulum to junctional sarcoplasmic reticulum trafficking of calsequestrin in adult cardiomyocytes","volume":"49","author":"McFarland","year":"2010","journal-title":"J\u00a0Mol Cell Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib53","doi-asserted-by":"crossref","first-page":"7636","DOI":"10.1073\/pnas.0902919106","article-title":"Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias","volume":"106","author":"Chopra","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.12.073_bib54","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1161\/01.CIR.0000020013.73106.D8","article-title":"Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia","volume":"106","author":"Priori","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.12.073_bib55","doi-asserted-by":"crossref","first-page":"E1669","DOI":"10.1073\/pnas.1419795112","article-title":"Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function","volume":"112","author":"Zhao","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.12.073_bib56","doi-asserted-by":"crossref","first-page":"eaba7287","DOI":"10.1126\/scitranslmed.aba7287","article-title":"Cardiac ryanodine receptor calcium release deficiency syndrome","volume":"13","author":"Sun","year":"2021","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jacc.2020.12.073_bib57","doi-asserted-by":"crossref","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jacc.2020.12.073_bib58","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 J"},{"key":"10.1016\/j.jacc.2020.12.073_bib59","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.ajhg.2012.08.015","article-title":"Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death","volume":"91","author":"Nyegaard","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jacc.2020.12.073_bib60","doi-asserted-by":"crossref","first-page":"e004161","DOI":"10.1161\/CIRCEP.116.004161","article-title":"Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks","volume":"9","author":"Gomez-Hurtado","year":"2016","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib61","doi-asserted-by":"crossref","first-page":"17055","DOI":"10.1016\/S0021-9258(18)37497-0","article-title":"Multiple divergent mRNAs code for a single human calmodulin","volume":"263","author":"Fischer","year":"1988","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jacc.2020.12.073_bib62","doi-asserted-by":"crossref","first-page":"23480","DOI":"10.1074\/jbc.M301125200","article-title":"Molecular basis of calmodulin binding to cardiac muscle Ca(2+) release channel (ryanodine receptor)","volume":"278","author":"Yamaguchi","year":"2003","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jacc.2020.12.073_bib63","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1161\/CIRCRESAHA.114.303391","article-title":"Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants","volume":"114","author":"Hwang","year":"2014","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib64","doi-asserted-by":"crossref","first-page":"7620","DOI":"10.1074\/jbc.RA120.013430","article-title":"The arrhythmogenic N53I variant subtly changes the structure and dynamics in the calmodulin N-terminal domain, altering its interaction with the cardiac ryanodine receptor","volume":"295","author":"Holt","year":"2020","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jacc.2020.12.073_bib65","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1093\/hmg\/dds104","article-title":"Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human","volume":"21","author":"Roux-Buisson","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jacc.2020.12.073_bib66","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.118.002419","article-title":"International Triadin Knockout Syndrome Registry","volume":"12","author":"Clemens","year":"2019","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.jacc.2020.12.073_bib67","doi-asserted-by":"crossref","first-page":"9027","DOI":"10.1074\/jbc.270.16.9027","article-title":"Association of triadin with the ryanodine receptor and calsequestrin in the lumen of the sarcoplasmic reticulum","volume":"270","author":"Guo","year":"1995","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jacc.2020.12.073_bib68","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1093\/cvr\/cvt023","article-title":"Triadin regulates cardiac muscle couplon structure and microdomain Ca(2+) signalling: a path towards ventricular arrhythmias","volume":"98","author":"Chopra","year":"2013","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib69","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymthe.2019.09.012","article-title":"Interplay between triadin and calsequestrin in the pathogenesis of CPVT in the mouse","volume":"28","author":"Cacheux","year":"2020","journal-title":"Mol Ther"},{"key":"10.1016\/j.jacc.2020.12.073_bib70","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.15252\/emmm.201505719","article-title":"TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT","volume":"8","author":"Devalla","year":"2016","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.jacc.2020.12.073_bib71","doi-asserted-by":"crossref","first-page":"80","DOI":"10.3389\/fphys.2018.00080","article-title":"Structural immaturity of human iPSC-derived cardiomyocytes: in silico investigation of effects on function and disease modeling","volume":"9","author":"Koivumaki","year":"2018","journal-title":"Front Physiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib72","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.hrthm.2015.09.029","article-title":"Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared with beta1-selective beta-blockers in patients with catecholaminergic polymorphic ventricular tachycardia","volume":"13","author":"Leren","year":"2016","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2020.12.073_bib73","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1093\/europace\/eus031","article-title":"The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands","volume":"14","author":"Hayashi","year":"2012","journal-title":"Europace"},{"key":"10.1016\/j.jacc.2020.12.073_bib74","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/nm.1942","article-title":"Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans","volume":"15","author":"Watanabe","year":"2009","journal-title":"Nat Med"},{"key":"10.1016\/j.jacc.2020.12.073_bib75","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1161\/CIRCRESAHA.111.247338","article-title":"Short communication: flecainide exerts an antiarrhythmic effect in a mouse model of catecholaminergic polymorphic ventricular tachycardia by increasing the threshold for triggered activity","volume":"109","author":"Liu","year":"2011","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib76","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1161\/CIRCRESAHA.116.305347","article-title":"The mechanism of flecainide action in CPVT does not involve a direct effect on RyR2","volume":"116","author":"Bannister","year":"2015","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib77","first-page":"538","article-title":"Left cardiac sympathetic denervation in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia","volume":"17","author":"Marai","year":"2015","journal-title":"Isr Med Assoc J"},{"key":"10.1016\/j.jacc.2020.12.073_bib78","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1161\/CIRCEP.113.000170","article-title":"Efficacy of implantable cardioverter defibrillators in young patients with catecholaminergic polymorphic ventricular tachycardia: success depends on substrate","volume":"6","author":"Miyake","year":"2013","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib79","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1016\/j.hrthm.2006.08.018","article-title":"Sudden cardiac death despite an implantable cardioverter-defibrillator in a young female with catecholaminergic ventricular tachycardia","volume":"3","author":"Mohamed","year":"2006","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2020.12.073_bib80","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.amjcard.2012.02.049","article-title":"Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia","volume":"110","author":"Marai","year":"2012","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib81","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ddr.430330406","article-title":"New 1,4-benzothiazepine derivative, K201, demonstrates cardioprotective effects against sudden cardiac cell death and intracellular calcium blocking action","volume":"33","author":"Kaneko","year":"1994","journal-title":"Drug Dev Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib82","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1126\/science.1094301","article-title":"Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2","volume":"304","author":"Wehrens","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.jacc.2020.12.073_bib83","doi-asserted-by":"crossref","first-page":"2579","DOI":"10.1253\/circj.CJ-10-0680","article-title":"Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S\/+) knock-in mouse model","volume":"74","author":"Kobayashi","year":"2010","journal-title":"Circ J"},{"key":"10.1016\/j.jacc.2020.12.073_bib84","doi-asserted-by":"crossref","first-page":"4810","DOI":"10.1073\/pnas.1816685116","article-title":"Unnatural verticilide enantiomer inhibits type 2 ryanodine receptor-mediated calcium leak and is antiarrhythmic","volume":"116","author":"Batiste","year":"2019","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.12.073_bib85","article-title":"Antiarrhythmic effects of dantrolene in patients with catecholaminergic polymorphic ventricular tachycardia and replication of the responses using iPSC models","volume":"10","author":"Penttinen","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.jacc.2020.12.073_bib86","doi-asserted-by":"crossref","first-page":"e77","DOI":"10.1161\/01.RES.0000169067.51055.72","article-title":"Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor","volume":"96","author":"Cerrone","year":"2005","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib87","first-page":"2510","article-title":"Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia","volume":"116","author":"Knollmann","year":"2006","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jacc.2020.12.073_bib88","doi-asserted-by":"crossref","first-page":"1814","DOI":"10.1172\/JCI31080","article-title":"Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia","volume":"117","author":"Song","year":"2007","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jacc.2020.12.073_bib89","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2015.61","article-title":"Gene therapy to treat cardiac arrhythmias","volume":"12","author":"Bongianino","year":"2015","journal-title":"Nat Rev Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib90","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1161\/CIRCRESAHA.111.263939","article-title":"Viral gene transfer rescues arrhythmogenic phenotype and ultrastructural abnormalities in adult calsequestrin-null mice with inherited arrhythmias","volume":"110","author":"Denegri","year":"2012","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib91","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1161\/CIRCULATIONAHA.113.006901","article-title":"Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age","volume":"129","author":"Denegri","year":"2014","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.12.073_bib92","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1161\/CIRCRESAHA.113.301783","article-title":"Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia","volume":"113","author":"Liu","year":"2013","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib93","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1161\/CIRCRESAHA.117.310882","article-title":"Allele-specific silencing of mutant mRNA rescues ultrastructural and arrhythmic phenotype in mice carriers of the R4496C mutation in the ryanodine receptor gene (RYR2)","volume":"121","author":"Bongianino","year":"2017","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib94","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1016\/j.hrthm.2017.03.025","article-title":"Viral delivered gene therapy to treat catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models","volume":"14","author":"Kurtzwald-Josefson","year":"2017","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2020.12.073_bib95","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.120.008420","article-title":"Stabilizer cell gene therapy: a less-is-more strategy to prevent cardiac arrhythmias","volume":"13","author":"Liu","year":"2020","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib96","article-title":"Gene transfer of engineered calmodulin alleviates ventricular arrhythmias in a calsequestrin-associated mouse model of catecholaminergic polymorphic ventricular tachycardia","volume":"7","author":"Liu","year":"2018","journal-title":"J\u00a0Am Heart Assoc"},{"key":"10.1016\/j.jacc.2020.12.073_bib97","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1126\/science.1225829","article-title":"A\u00a0programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity","volume":"337","author":"Jinek","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.jacc.2020.12.073_bib98","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat Protoc"},{"key":"10.1016\/j.jacc.2020.12.073_bib99","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1534\/genetics.113.152710","article-title":"Genome engineering of Drosophila with the CRISPR RNA-guided Cas9 nuclease","volume":"194","author":"Gratz","year":"2013","journal-title":"Genetics"},{"key":"10.1016\/j.jacc.2020.12.073_bib100","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1001\/jamacardio.2017.1713","article-title":"The hope and hype of CRISPR-Cas9 genome editing: a review","volume":"2","author":"Musunuru","year":"2017","journal-title":"JAMA Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib101","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1161\/CIRCRESAHA.118.313369","article-title":"In\u00a0vivo Ryr2 editing corrects catecholaminergic polymorphic ventricular tachycardia","volume":"123","author":"Pan","year":"2018","journal-title":"Circ Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib102","doi-asserted-by":"crossref","first-page":"12179","DOI":"10.1073\/pnas.0600268103","article-title":"Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy","volume":"103","author":"Kannankeril","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.12.073_bib103","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.yjmcc.2010.10.001","article-title":"Calmodulin kinase II inhibition prevents arrhythmias in RyR2(R4496C+\/-) mice with catecholaminergic polymorphic ventricular tachycardia","volume":"50","author":"Liu","year":"2011","journal-title":"J\u00a0Mol Cell Cardiol"},{"key":"10.1016\/j.jacc.2020.12.073_bib104","doi-asserted-by":"crossref","first-page":"e843","DOI":"10.1038\/cddis.2013.369","article-title":"CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia","volume":"4","author":"Di Pasquale","year":"2013","journal-title":"Cell Death Dis"},{"key":"10.1016\/j.jacc.2020.12.073_bib105","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1161\/CIRCULATIONAHA.118.038514","article-title":"Gene therapy for catecholaminergic polymorphic ventricular tachycardia by inhibition of Ca(2+)\/calmodulin-dependent kinase II","volume":"140","author":"Bezzerides","year":"2019","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.12.073_bib106","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1126\/science.1321493","article-title":"Impaired spatial learning in alpha-calcium-calmodulin kinase II mutant mice","volume":"257","author":"Silva","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.jacc.2020.12.073_bib107","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1126\/science.1378648","article-title":"Deficient hippocampal long-term potentiation in alpha-calcium-calmodulin kinase II mutant mice","volume":"257","author":"Silva","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.jacc.2020.12.073_bib108","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1038\/emboj.2011.482","article-title":"CaMKII binding to GluN2B is critical during memory consolidation","volume":"31","author":"Halt","year":"2012","journal-title":"EMBO J"},{"key":"10.1016\/j.jacc.2020.12.073_bib109","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1093\/cvr\/cvv222","article-title":"Ablation of HRC alleviates cardiac arrhythmia and improves abnormal Ca handling in CASQ2 knockout mice prone to CPVT","volume":"108","author":"Liu","year":"2015","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib110","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1093\/cvr\/cvm004","article-title":"Disruption of calcium homeostasis and arrhythmogenesis induced by mutations in the cardiac ryanodine receptor and calsequestrin","volume":"77","author":"Liu","year":"2008","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.jacc.2020.12.073_bib111","doi-asserted-by":"crossref","first-page":"3113","DOI":"10.1113\/jphysiol.2009.172155","article-title":"Store overload-induced Ca2+ release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes","volume":"587","author":"MacLennan","year":"2009","journal-title":"J\u00a0Physiol"}],"container-title":["Journal of the American College of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0735109721010123?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0735109721010123?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T13:42:22Z","timestamp":1760017342000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0735109721010123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":111,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["S0735109721010123"],"URL":"https:\/\/doi.org\/10.1016\/j.jacc.2020.12.073","relation":{},"ISSN":["0735-1097"],"issn-type":[{"value":"0735-1097","type":"print"}],"subject":[],"published":{"date-parts":[[2021,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia","name":"articletitle","label":"Article Title"},{"value":"Journal of the American College of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacc.2020.12.073","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 by the American College of Cardiology Foundation. Published by Elsevier.","name":"copyright","label":"Copyright"}]}}