{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T21:40:31Z","timestamp":1789681231267,"version":"4.0.1"},"reference-count":32,"publisher":"Elsevier BV","issue":"15","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:00:00Z","timestamp":1618963200000},"content-version":"vor","delay-in-days":385,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"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":[[2020,4]]},"DOI":"10.1016\/j.jacc.2020.02.033","type":"journal-article","created":{"date-parts":[[2020,4,13]],"date-time":"2020-04-13T13:59:39Z","timestamp":1586786379000},"page":"1772-1784","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":69,"title":["Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1"],"prefix":"10.1016","volume":"75","author":[{"given":"Andrea","family":"Mazzanti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitri","family":"Guz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Trancuccio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Pagan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deni","family":"Kukavica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tekla","family":"Chargeishvili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Olivetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta Katarzyna","family":"Biernacka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana","family":"Sacilotto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Sarquella-Brugada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Campuzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Nof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aristides","family":"Anastasakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Jimenez-Jaimez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"S\u00e1nchez-Qui\u00f1ones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Hernandez-Afonso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Eugenia","family":"Fuentes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"\u015aredniawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Garoufi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Andr\u0161ov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maite","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rumen","family":"Marinov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asaf","family":"Danon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Exp\u00f3sito-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaya","family":"Garcia-Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Mu\u00f1oz-Esparza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mart\u00edn","family":"Ort\u00edz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Zienciuk-Krajka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Tavazzani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Monteforte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Bloise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maira","family":"Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Memmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Napolitano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Zorio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Monserrat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Bagnardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia G.","family":"Priori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacc.2020.02.033_bib1","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/j.1651-2227.1971.tb06990.x","article-title":"Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?","volume":"60","author":"Andersen","year":"1971","journal-title":"Acta Paediatr Scand"},{"key":"10.1016\/j.jacc.2020.02.033_bib2","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ana.410350313","article-title":"Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features","volume":"35","author":"Tawil","year":"1994","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jacc.2020.02.033_bib3","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.nmd.2018.03.006","article-title":"Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands","volume":"28","author":"Stunnenberg","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2020.02.033_bib4","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0092-8674(01)00342-7","article-title":"Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome","volume":"105","author":"Plaster","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.jacc.2020.02.033_bib5","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1113\/jphysiol.1984.sp015088","article-title":"Conductance properties of single inwardly rectifying potassium channels in ventricular cells from guinea-pig heart","volume":"347","author":"Sakmann","year":"1984","journal-title":"J\u00a0Physiol"},{"key":"10.1016\/j.jacc.2020.02.033_bib6","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1093\/europace\/eut326","article-title":"Andersen-Tawil syndrome, scarier for the doctor than for the patient? Who, when, and how to treat","volume":"15","author":"Wilde","year":"2013","journal-title":"Europace"},{"key":"10.1016\/j.jacc.2020.02.033_bib7","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1093\/europace\/eut160","article-title":"Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation","volume":"15","author":"Delannoy","year":"2013","journal-title":"Europace"},{"key":"10.1016\/j.jacc.2020.02.033_bib8","doi-asserted-by":"crossref","first-page":"2720","DOI":"10.1161\/CIRCULATIONAHA.104.472498","article-title":"Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype","volume":"111","author":"Zhang","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.02.033_bib9","series-title":"Gene Reviews\u00ae [Internet]","article-title":"Andersen-Tawil syndrome. November 22, 2004 [Updated June 7, 2018]","author":"Veerapandiyan","year":"1993"},{"key":"10.1016\/j.jacc.2020.02.033_bib10","doi-asserted-by":"crossref","first-page":"405","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.2020.02.033_bib11","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1016\/j.jacc.2018.01.078","article-title":"Interplay between genetic substrate, QTc duration, and arrhythmia risk in patients with long QT syndrome","volume":"71","author":"Mazzanti","year":"2018","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2020.02.033_bib12","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00021.2009","article-title":"Inwardly rectifying potassium channels: their structure, function, and physiological roles","volume":"90","author":"Hibino","year":"2010","journal-title":"Physiol Rev"},{"key":"10.1016\/j.jacc.2020.02.033_bib13","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1212\/01.WNL.0000072261.14060.47","article-title":"PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome","volume":"60","author":"Donaldson","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2020.02.033_bib14","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1016\/S0896-6273(02)00725-0","article-title":"Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies","volume":"34","author":"Lopes","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.jacc.2020.02.033_bib15","doi-asserted-by":"crossref","first-page":"2592","DOI":"10.1161\/01.CIR.0000019906.35135.A3","article-title":"Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia","volume":"105","author":"Ai","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2020.02.033_bib16","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1212\/01.wnl.0000178888.03767.74","article-title":"Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation","volume":"65","author":"Davies","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2020.02.033_bib17","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1093\/biomet\/74.4.883","article-title":"A\u00a0note on the product-limit estimator under right censoring and left truncation","volume":"74","author":"Tsai","year":"1987","journal-title":"Biometrika"},{"key":"10.1016\/j.jacc.2020.02.033_bib18","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1198\/000313005X70371","article-title":"Illustrating the impact of a time-varying covariate with an extended Kaplan-Meier estimator","volume":"59","author":"Snapinn","year":"2012","journal-title":"Am Stat"},{"key":"10.1016\/j.jacc.2020.02.033_bib19","doi-asserted-by":"crossref","first-page":"C876","DOI":"10.1152\/ajpcell.00519.2008","article-title":"Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes","volume":"297","author":"Sacconi","year":"2009","journal-title":"Am J Physiol Cell Physiol"},{"key":"10.1016\/j.jacc.2020.02.033_bib20","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1016\/j.hrthm.2010.03.044","article-title":"Cytosolic calcium accumulation and delayed repolarization associated with ventricular arrhythmias in a guinea pig model of Andersen-Tawil syndrome","volume":"7","author":"Radwa\u0144ski","year":"2010","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2020.02.033_bib21","doi-asserted-by":"crossref","first-page":"3245","DOI":"10.1113\/JP271930","article-title":"Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome","volume":"594","author":"Adams","year":"2016","journal-title":"J\u00a0Physiol"},{"key":"10.1016\/j.jacc.2020.02.033_bib22","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.cardiores.2007.04.028","article-title":"Mechanism of U wave and polymorphic ventricular tachycardia in a canine tissue model of Andersen-Tawil syndrome","volume":"75","author":"Morita","year":"2007","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.jacc.2020.02.033_bib23","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.2020.02.033_bib24","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1093\/eurheartj\/ehv316","article-title":"2015 European Society of Cardiology Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death summarized by co-chairs","volume":"36","author":"Priori","year":"2015","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2020.02.033_bib25","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1172\/JCI15183","article-title":"Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)","volume":"110","author":"Tristani-Firouzi","year":"2002","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jacc.2020.02.033_bib26","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.hrthm.2014.12.009","article-title":"Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations","volume":"12","author":"Miyamoto","year":"2015","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2020.02.033_bib27","doi-asserted-by":"crossref","first-page":"15631","DOI":"10.1073\/pnas.1004021107","article-title":"Flecainide increases Kir2.1 currents by interacting with cysteine 311, decreasing the polyamine-induced rectification","volume":"107","author":"Caballero","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jacc.2020.02.033_bib28","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1093\/cvr\/cvu203","article-title":"Structural basis of drugs that increase cardiac inward rectifier Kir2.1 currents","volume":"104","author":"G\u00f3mez","year":"2014","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.jacc.2020.02.033_bib29","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1212\/WNL.59.3.466","article-title":"Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome","volume":"59","author":"Junker","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2020.02.033_bib30","first-page":"209","article-title":"Relationship among amiodarone, new class III antiarrhythmics, miscellaneous agents and acquired long QT syndrome","volume":"15","author":"Riera","year":"2008","journal-title":"Cardiol J"},{"key":"10.1016\/j.jacc.2020.02.033_bib31","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","article-title":"2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"36","author":"Priori","year":"2015","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2020.02.033_bib32","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1016\/j.jacc.2016.09.951","article-title":"Arrhythmogenic right ventricular cardiomyopathy: clinical course and predictors of arrhythmic risk","volume":"68","author":"Mazzanti","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"}],"container-title":["Journal of the American College of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0735109720343291?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0735109720343291?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T13:32:39Z","timestamp":1760016759000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0735109720343291"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":32,"journal-issue":{"issue":"15","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S0735109720343291"],"URL":"https:\/\/doi.org\/10.1016\/j.jacc.2020.02.033","relation":{},"ISSN":["0735-1097"],"issn-type":[{"value":"0735-1097","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1","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.2020.02.033","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier on behalf of the American College of Cardiology Foundation","name":"copyright","label":"Copyright"}]}}