{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T20:35:13Z","timestamp":1793133313495,"version":"4.5.0"},"reference-count":98,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","heartrhythmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heart Rhythm"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.hrthm.2026.09.020","type":"journal-article","created":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:49:18Z","timestamp":1789627758000},"update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic and therapeutic challenges in Andersen\u2013Tawil syndrome"],"prefix":"10.1016","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6884-2701","authenticated-orcid":false,"given":"Stine B.","family":"Jacobsen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"van der Werf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke J.","family":"van der Kooi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur A.M.","family":"Wilde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Tfelt-Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.hrthm.2026.09.020_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","volume":"60","author":"Andersen","year":"1971","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.hrthm.2026.09.020_bib2","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0022-3476(63)80134-1","article-title":"Periodic paralysis with cardiac arrhythmia","volume":"62","author":"Klein","year":"1963","journal-title":"J Pediatr"},{"key":"10.1016\/j.hrthm.2026.09.020_bib3","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1056\/NEJM197202032860507","article-title":"Hypokalemic periodic paralysis with arrhythmia","volume":"286","author":"Levitt","year":"1972","journal-title":"N Engl J Med"},{"key":"10.1016\/j.hrthm.2026.09.020_bib4","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.22.8.810","article-title":"Hyperkalemic periodic paralysis and cardiac arrhythmia","volume":"22","author":"Lisak","year":"1972","journal-title":"Neurology"},{"key":"10.1016\/j.hrthm.2026.09.020_bib5","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.35.8.1208","article-title":"Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis","volume":"35","author":"Gould","year":"1985","journal-title":"Neurology"},{"key":"10.1016\/j.hrthm.2026.09.020_bib6","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ana.410350313","article-title":"Andersen\u2019s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features","volume":"35","author":"Tawil","year":"1994","journal-title":"Ann Neurol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib7","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.hrthm.2026.09.020_bib8","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1212\/WNL.0b013e31828cf8d0","article-title":"Prevalence study of genetically defined skeletal muscle channelopathies in England","volume":"80","author":"Horga","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.hrthm.2026.09.020_bib9","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/j.nmd.2023.01.007","article-title":"Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing","volume":"33","author":"Vivekanandam","year":"2023","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.hrthm.2026.09.020_bib10","doi-asserted-by":"crossref","first-page":"2398","DOI":"10.1111\/ene.15369","article-title":"Phenotypical variability and atypical presentations in a French cohort of Andersen\u2013Tawil syndrome","volume":"29","author":"Villar-Quiles","year":"2022","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib11","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1093\/brain\/awab445","article-title":"Andersen\u2013Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity","volume":"145","author":"Vivekanandam","year":"2022","journal-title":"Brain"},{"key":"10.1016\/j.hrthm.2026.09.020_bib12","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1002\/ajmg.a.31092","article-title":"Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype","volume":"140A","author":"Yoon","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.hrthm.2026.09.020_bib13","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1002\/mus.24293","article-title":"Andersen\u2013Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement","volume":"51","author":"Kostera-Pruszczyk","year":"2015","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.hrthm.2026.09.020_bib14","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2023.1170693","article-title":"A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy","volume":"14","author":"Zhao","year":"2023","journal-title":"Front Neurol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib15","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 Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib16","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.hrthm.2026.09.020_bib17","doi-asserted-by":"crossref","DOI":"10.1002\/humu.9483","article-title":"Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome","volume":"28","author":"Haruna","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hrthm.2026.09.020_bib18","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.hrthm.2026.09.020_bib19","first-page":"145","article-title":"Andersen-Tawil syndrome with high risk of sudden cardiac death in four Mexican patients. Cardiac and extra-cardiac phenotypes","volume":"73","author":"Barr\u00f3n-D\u00edaz","year":"2021","journal-title":"Rev Investig Clin"},{"key":"10.1016\/j.hrthm.2026.09.020_bib20","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1086\/342360","article-title":"KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes","volume":"71","author":"Andelfinger","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.hrthm.2026.09.020_bib21","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"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":"10.1016\/j.hrthm.2026.09.020_bib22","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 Clin Invest"},{"key":"10.1016\/j.hrthm.2026.09.020_bib23","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.jjcc.2017.01.009","article-title":"Andersen-Tawil syndrome: clinical presentation and predictors of symptomatic arrhythmias - possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene","volume":"70","author":"Krych","year":"2017","journal-title":"J Cardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib24","first-page":"64","article-title":"The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen\u2013Tawil syndrome\u2014a case report","volume":"10","author":"Stavnem","year":"2026","journal-title":"Eur Heart J Case Rep"},{"key":"10.1016\/j.hrthm.2026.09.020_bib25","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.tcm.2018.03.003","article-title":"The genetic architecture of long QT syndrome: a critical reappraisal","volume":"28","author":"Giudicessi","year":"2018","journal-title":"Trends Cardiovasc Med"},{"key":"10.1016\/j.hrthm.2026.09.020_bib26","doi-asserted-by":"crossref","DOI":"10.1111\/anec.12721","article-title":"Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations","volume":"25","author":"Horigome","year":"2020","journal-title":"Ann Noninvasive Electrocardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib27","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1016\/j.hrthm.2006.07.021","article-title":"A family with Andersen-Tawil syndrome and dilated cardiomyopathy","volume":"3","author":"Schoonderwoerd","year":"2006","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib28","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.125.014113","article-title":"MEPPC syndrome: a systematic review and state-of-the-art paper","volume":"18","author":"Basile","year":"2025","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib29","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.jacc.2012.02.052","article-title":"Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy","volume":"60","author":"Laurent","year":"2012","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib30","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.hrthm.2026.09.020_bib31","doi-asserted-by":"crossref","first-page":"e20","DOI":"10.15420\/aer.2022.09","article-title":"Catecholaminergic polymorphic ventricular tachycardia","volume":"11","author":"Abbas","year":"2022","journal-title":"Arrhythm Electrophysiol Rev"},{"key":"10.1016\/j.hrthm.2026.09.020_bib32","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1093\/europace\/eux351","article-title":"Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia","volume":"20","author":"Inoue","year":"2018","journal-title":"Europace"},{"key":"10.1016\/j.hrthm.2026.09.020_bib33","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1161\/CIRCRESAHA.111.300076","article-title":"Accelerated sinus rhythm prevents catecholaminergic polymorphic ventricular tachycardia in mice and in patients","volume":"112","author":"Faggioni","year":"2013","journal-title":"Circ Res"},{"key":"10.1016\/j.hrthm.2026.09.020_bib34","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1161\/CIRCEP.109.872309","article-title":"Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia","volume":"2","author":"Vega","year":"2009","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib35","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1253\/circj.CJ-12-1460","article-title":"Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan","volume":"77","author":"Kawamura","year":"2013","journal-title":"Circ J"},{"key":"10.1016\/j.hrthm.2026.09.020_bib36","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1016\/j.hrthm.2006.03.025","article-title":"Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing","volume":"3","author":"Tester","year":"2006","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib37","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.ijcard.2015.07.069","article-title":"Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT)","volume":"201","author":"Tully","year":"2015","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib38","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\u2019s syndrome","volume":"105","author":"Plaster","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.hrthm.2026.09.020_bib39","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2021.773177","article-title":"Characterization of loss-of-function KCNJ2 mutations in atypical Andersen Tawil syndrome","volume":"12","author":"Le Tanno","year":"2021","journal-title":"Front Genet"},{"key":"10.1016\/j.hrthm.2026.09.020_bib40","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1016\/0896-6273(95)90021-7","article-title":"Determination of the subunit stoichiometry of an inwardly rectifying potassium channel","volume":"15","author":"Yang","year":"1995","journal-title":"Neuron"},{"key":"10.1016\/j.hrthm.2026.09.020_bib41","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.hrthm.2024.01.017","article-title":"Kir2.1-NaV1.5 channelosome and its role in arrhythmias in inheritable cardiac diseases","volume":"21","author":"Guti\u00e9rrez","year":"2024","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib42","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1161\/01.RES.0000128408.66946.67","article-title":"Unique Kir2.x properties determine regional and species differences in the cardiac inward rectifier K+ current","volume":"94","author":"Dhamoon","year":"2004","journal-title":"Circ Res"},{"key":"10.1016\/j.hrthm.2026.09.020_bib43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fcell.2021.796136","article-title":"Inwardly rectifying potassium channel Kir2.1 and its \u201cKir-ious\u201d regulation by protein trafficking and roles in development and disease","volume":"9","author":"Hager","year":"2022","journal-title":"Front Cell Dev Biol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib44","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/362127a0","article-title":"Primary structure and functional expression of a mouse inward rectifier potassium channel","volume":"362","author":"Kubo","year":"1993","journal-title":"Nature"},{"key":"10.1016\/j.hrthm.2026.09.020_bib45","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1093\/hmg\/ddu462","article-title":"The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis","volume":"24","author":"Sacco","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.hrthm.2026.09.020_bib46","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1093\/cvr\/cvac118","article-title":"Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome","volume":"119","author":"Moreno-Manuel","year":"2023","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.hrthm.2026.09.020_bib47","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1113\/jphysiol.2004.081620","article-title":"In vivo and in vitro functional characterization of Andersen\u2019s syndrome mutations","volume":"565","author":"Bendahhou","year":"2005","journal-title":"J Physiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib48","doi-asserted-by":"crossref","first-page":"7774","DOI":"10.1073\/pnas.102609499","article-title":"Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen\u2019s syndrome","volume":"99","author":"Preisig-M\u00fcller","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.hrthm.2026.09.020_bib49","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1093\/cvr\/cvaa249","article-title":"Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient","volume":"117","author":"D\u00e9ri","year":"2021","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.hrthm.2026.09.020_bib50","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1093\/europace\/euac030","article-title":"Expert Consensus Statement on the state of genetic testing for cardiac diseases","volume":"24","author":"Wilde","year":"2022","journal-title":"Europace"},{"key":"10.1016\/j.hrthm.2026.09.020_bib51","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1161\/CIRCULATIONAHA.119.043132","article-title":"An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome","volume":"141","author":"Adler","year":"2020","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2026.09.020_bib52","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1212\/WNL.0000000000000239","article-title":"A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1","volume":"82","author":"Kokunai","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.hrthm.2026.09.020_bib53","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1038\/s44161-022-00145-2","article-title":"Kir2.1 dysfunction at the sarcolemma and the sarcoplasmic reticulum causes arrhythmias in a mouse model of Andersen\u2013Tawil syndrome type 1","volume":"1","author":"Mac\u00edas","year":"2022","journal-title":"Nat Cardiovasc Res"},{"key":"10.1016\/j.hrthm.2026.09.020_bib54","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.hrthm.2004.11.012","article-title":"The inward rectifier current (IK1) controls cardiac excitability and is involved in arrhythmogenesis","volume":"2","author":"Dhamoon","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib55","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.hrthm.2026.09.020_bib56","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.yjmcc.2007.05.005","article-title":"T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity","volume":"43","author":"Tani","year":"2007","journal-title":"J Mol Cell Cardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib57","doi-asserted-by":"crossref","first-page":"8599","DOI":"10.1021\/bi060653d","article-title":"Andersen\u2019s syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1","volume":"45","author":"Pegan","year":"2006","journal-title":"Biochemistry"},{"key":"10.1016\/j.hrthm.2026.09.020_bib58","doi-asserted-by":"crossref","first-page":"5781","DOI":"10.1074\/jbc.M608776200","article-title":"An Andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway","volume":"282","author":"Ma","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.hrthm.2026.09.020_bib59","doi-asserted-by":"crossref","first-page":"672","DOI":"10.3389\/fphar.2020.00672","article-title":"Andersen-Tawil syndrome is associated with impaired PIP2 regulation of the potassium channel Kir2.1","volume":"11","author":"Handklo-Jamal","year":"2020","journal-title":"Front Pharmacol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib60","doi-asserted-by":"crossref","first-page":"e52","DOI":"10.1161\/CIRCRESAHA.123.323895","article-title":"Extracellular Kir2.1C122Y mutant upsets Kir2.1-PIP2 bonds and is arrhythmogenic in Andersen-Tawil syndrome","volume":"134","author":"Cruz","year":"2024","journal-title":"Circ Res"},{"key":"10.1016\/j.hrthm.2026.09.020_bib61","first-page":"408","article-title":"The enigmatic sixth wave of the electrocardiogram: the U wave","volume":"15","author":"P\u00e9rez Riera","year":"2008","journal-title":"Cardiol J"},{"key":"10.1016\/j.hrthm.2026.09.020_bib62","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.hrthm.2026.09.020_bib63","doi-asserted-by":"crossref","DOI":"10.1111\/anec.70119","article-title":"When the U Wave tells the story: Andersen\u2013Tawil syndrome unmasked","volume":"30","author":"Yu","year":"2025","journal-title":"Ann Noninvasive Electrocardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib64","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.hrthm.2008.11.024","article-title":"IK1 modulates the U-wave: insights in a 100-year-old enigma","volume":"6","author":"Postema","year":"2009","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib65","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.hrthm.2026.09.020_bib66","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1016\/j.hrthm.2013.11.003","article-title":"Combined inhibition of Na+ and Ca2+ channels: a novel paradigm for the treatment of incessant ventricular arrhythmias in Andersen-Tawil syndrome","volume":"11","author":"Janson","year":"2014","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib67","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1016\/j.hrthm.2019.01.034","article-title":"Role of the Purkinje system in heritable arrhythmias","volume":"16","author":"Wilde","year":"2019","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib68","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.hrthm.2005.11.026","article-title":"Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7)","volume":"3","author":"Tsuboi","year":"2006","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib69","doi-asserted-by":"crossref","first-page":"H2597","DOI":"10.1152\/ajpheart.00393.2006","article-title":"Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study","volume":"291","author":"Sung","year":"2006","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib70","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.125.005188","article-title":"Long-term arrhythmic outcomes of KCNJ2 variant carriers in Japan","volume":"18","author":"Kato","year":"2025","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.hrthm.2026.09.020_bib71","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1016\/j.hrthm.2014.07.022","article-title":"Cellular mechanism of premature ventricular contraction-induced cardiomyopathy","volume":"11","author":"Wang","year":"2014","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib72","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.jacc.2015.04.062","article-title":"Ventricular ectopy as a predictor of heart failure and death","volume":"66","author":"Dukes","year":"2015","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib73","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/j.1540-8167.2007.00910.x","article-title":"Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome","volume":"19","author":"Pellizz\u00f3n","year":"2008","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib75","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.hrthm.2026.09.020_bib76","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.hrthm.2006.12.031","article-title":"Flecainide for recurrent malignant ventricular arrhythmias in two siblings with Andersen-Tawil syndrome","volume":"4","author":"B\u00f6kenkamp","year":"2007","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib77","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1093\/europace\/eun180","article-title":"Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome","volume":"10","author":"Fox","year":"2008","journal-title":"Europace"},{"issue":"suppl 1","key":"10.1016\/j.hrthm.2026.09.020_bib78","doi-asserted-by":"crossref","first-page":"5629","DOI":"10.1093\/eurheartj\/eht310.P5629","article-title":"Life-threatening arrhythmias in children with Andersen-Tawil syndrome","volume":"34","author":"Romantsova","year":"2013","journal-title":"Eur Heart J"},{"key":"10.1016\/j.hrthm.2026.09.020_bib79","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.jelectrocard.2008.02.023","article-title":"Oral verapamil effectively suppressed complex ventricular arrhythmias and unmasked U waves in a patient with Andersen-Tawil syndrome","volume":"41","author":"Erdogan","year":"2008","journal-title":"J Electrocardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib80","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1016\/j.hrthm.2015.03.032","article-title":"Imipramine for incessant ventricular arrhythmias in 2 unrelated patients with Andersen-Tawil syndrome","volume":"12","author":"Bigelow","year":"2015","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib83","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/pace.13204","article-title":"Response to flecainide test in Andersen-Tawil syndrome with incessant ventricular tachycardia","volume":"41","author":"Fern\u00e1ndez","year":"2018","journal-title":"Pacing Clin Electrophysiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib84","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1016\/j.jacep.2025.03.020","article-title":"Flecainide for the treatment of Andersen-Tawil syndrome","volume":"11","author":"Mann","year":"2025","journal-title":"JACC Clin Electrophysiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib85","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.jelectrocard.2019.10.009","article-title":"Therapeutic management of ventricular arrhythmias in Andersen-Tawil syndrome","volume":"58","author":"Maff\u00e8","year":"2020","journal-title":"J Electrocardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib81","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.33963\/v.phj.106747","article-title":"Extreme prolongation of QTU in a patient with Andersen-Tawil syndrome","volume":"83","author":"Biernacka","year":"2025","journal-title":"Kardiol Pol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib82","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/j.1442-200x.2005.02024.x","article-title":"KCNJ2 mutation in intractable ventricular arrhythmia with Andersen\u2019s syndrome","volume":"47","author":"Takahashi","year":"2005","journal-title":"Pediatr Int"},{"key":"10.1016\/j.hrthm.2026.09.020_bib86","article-title":"Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome","volume":"15","author":"Wang","year":"2024","journal-title":"Front Neurol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib87","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.nmd.2021.04.001","article-title":"Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide","volume":"31","author":"Gupta","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.hrthm.2026.09.020_bib88","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/j.jns.2014.09.040","article-title":"A case of Andersen-Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide","volume":"347","author":"Nagamine","year":"2014","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.hrthm.2026.09.020_bib89","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.nurt.2007.01.005","article-title":"Management and treatment of Andersen-Tawil syndrome (ATS)","volume":"4","author":"Sansone","year":"2007","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.hrthm.2026.09.020_bib90","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1007\/s10840-021-01077-w","article-title":"Catheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syndrome: case report and focused literature review","volume":"66","author":"Keegan","year":"2023","journal-title":"J Interv Card Electrophysiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib91","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.jelectrocard.2021.07.004","article-title":"Failure of radiofrequency catheter ablation and success of flecainide to suppress premature ventricular contractions in Andersen-Tawil syndrome: a case report","volume":"68","author":"Yilmaz","year":"2021","journal-title":"J Electrocardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib92","doi-asserted-by":"crossref","DOI":"10.1093\/europace\/euac247","article-title":"Successful cardiac sympathetic denervation for Andersen\u2013Tawil syndrome","volume":"25","author":"Krych","year":"2023","journal-title":"Europace"},{"key":"10.1016\/j.hrthm.2026.09.020_bib93","doi-asserted-by":"crossref","DOI":"10.1093\/europace\/euae049","volume":"26","author":"Lenarczyk","year":"2024","journal-title":"Europace"},{"key":"10.1016\/j.hrthm.2026.09.020_bib74","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1016\/j.hrthm.2024.08.023","article-title":"Management of ultrarare inherited arrhythmia syndromes","volume":"22","author":"Roston","year":"2025","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2026.09.020_bib94","doi-asserted-by":"crossref","DOI":"10.1111\/anec.12723","article-title":"Arrhythmic events in Brugada syndrome patients induced by fever","volume":"25","author":"Roterberg","year":"2020","journal-title":"Ann Noninvasive Electrocardiol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib95","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.96291","article-title":"Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1\/2.2 channels","volume":"3","author":"P\u00e9rez-Hern\u00e1ndez","year":"2018","journal-title":"JCI Insight"},{"key":"10.1016\/j.hrthm.2026.09.020_bib96","doi-asserted-by":"crossref","DOI":"10.1093\/europace\/euaf076","article-title":"Practical compendium of antiarrhythmic drugs: a clinical consensus statement of the European Heart Rhythm Association of the European Society of Cardiology","volume":"27","author":"Merino","year":"2025","journal-title":"Europace"},{"key":"10.1016\/j.hrthm.2026.09.020_bib97","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1159\/000517899","article-title":"Mind the gap: acetazolamide prolonged periods without paralysis in a girl with Andersen-Tawil syndrome","volume":"13","author":"\u017dakelj","year":"2021","journal-title":"Case Rep Neurol"},{"key":"10.1016\/j.hrthm.2026.09.020_bib98","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"}],"container-title":["Heart Rhythm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527126027943?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527126027943?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T20:25:07Z","timestamp":1793132707000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1547527126027943"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":98,"alternative-id":["S1547527126027943"],"URL":"https:\/\/doi.org\/10.1016\/j.hrthm.2026.09.020","relation":{},"ISSN":["1547-5271"],"issn-type":[{"value":"1547-5271","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic and therapeutic challenges in Andersen\u2013Tawil syndrome","name":"articletitle","label":"Article Title"},{"value":"Heart Rhythm","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.hrthm.2026.09.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Heart Rhythm Society.","name":"copyright","label":"Copyright"}]}}