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ATS is usually marked by a triad of periodic paralysis, life-threatening cardiac arrhythmias and dysmorphic features, but its expression is variable and not all patients with a phenotype linked to ATS have a known genetic alteration. The mechanisms underlying this arrhythmogenic syndrome are poorly understood. Knowing such mechanisms would be essential to distinguish ATS from other channelopathies with overlapping phenotypes and to develop individualized therapies. For example, the recently suggested role of Kir2.1 as a countercurrent to sarcoplasmic calcium reuptake might explain the arrhythmogenic mechanisms of ATS and its overlap with catecholaminergic polymorphic ventricular tachycardia. Here we summarize current knowledge on the mechanisms of arrhythmias leading to sudden cardiac death in ATS. We first provide an overview of the syndrome and its pathophysiology, from the patient\u2019s bedside to the protein and discuss the role of essential regulators and interactors that could play a role in cases of ATS. The review highlights novel ideas related to some post-translational channel interactions with partner proteins that might help define the molecular bases of the arrhythmia phenotype. We then propose a new all-embracing classification of the currently known ATS loss-of-function mutations according to their position in the Kir2.1 channel structure and their functional implications. We also discuss specific ATS pathogenic variants, their clinical manifestations, and treatment stratification. The goal is to provide a deeper mechanistic understanding of the syndrome toward the development of novel targets and personalized treatment strategies.<\/jats:p>","DOI":"10.1093\/cvr\/cvac118","type":"journal-article","created":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T04:29:05Z","timestamp":1658896145000},"page":"919-932","source":"Crossref","is-referenced-by-count":19,"title":["Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome"],"prefix":"10.1093","volume":"119","author":[{"given":"Ana Isabel","family":"Moreno-Manuel","sequence":"first","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian K","family":"Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Linarejos","family":"Vera-Pedrosa","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Miguel","family":"Cruz","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Jos\u00e9","family":"Berm\u00fadez-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"},{"name":"Departamento de Cardiolog\u00eda, Hospital Virgen de las Nieves , Granada Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Mart\u00ednez-Carrascoso","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"S\u00e1nchez-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9952-6947","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Mac\u00edas","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Jalife","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III , 28029 Madrid , Spain"},{"name":"CIBER de Enfermedades Cardiovasculares (CIBERCV) , Madrid , Spain"},{"name":"Departments of Medicine and Molecular and Integrative Physiology, University of Michigan , Ann Arbor, MI , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,7,27]]},"reference":[{"key":"2023050216091639100_cvac118-B1","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":"2023050216091639100_cvac118-B2","author":"Andersen-Tawil Syndrome","year":"2018"},{"issue":"Suppl 1","key":"2023050216091639100_cvac118-B3","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1080\/17431380410032490","article-title":"Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity","volume":"36","author":"Donaldson","year":"2004","journal-title":"Ann Med"},{"key":"2023050216091639100_cvac118-B4","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1161\/CIRCRESAHA.116.305017","article-title":"Ion channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac death","volume":"116","author":"Abriel","year":"2015","journal-title":"Circ Res"},{"key":"2023050216091639100_cvac118-B5","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.cardiores.2005.04.003","article-title":"Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes","volume":"67","author":"Meadows","year":"2005","journal-title":"Cardiovasc Res"},{"key":"2023050216091639100_cvac118-B6","doi-asserted-by":"crossref","first-page":"H1463","DOI":"10.1152\/ajpheart.00176.2015","article-title":"Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis","volume":"308","author":"Willis","year":"2015","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"2023050216091639100_cvac118-B7","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":"2023050216091639100_cvac118-B8","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":"2023050216091639100_cvac118-B9","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":"2023050216091639100_cvac118-B10","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":"2023050216091639100_cvac118-B11","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1113\/jphysiol.2006.126714","article-title":"Regional and tissue specific transcript signatures of ion channel genes in the non-diseased human heart","volume":"582","author":"Gaborit","year":"2007","journal-title":"J Physiol"},{"key":"2023050216091639100_cvac118-B12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ijcard.2013.10.010","article-title":"Andersen-Tawil syndrome: clinical and molecular aspects","volume":"170","author":"Nguyen","year":"2013","journal-title":"Int J Cardiol"},{"key":"2023050216091639100_cvac118-B13","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":"2023050216091639100_cvac118-B14","doi-asserted-by":"crossref","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","author":"Keegan","year":"2021","journal-title":"J Interv Card Electrophysiol"},{"key":"2023050216091639100_cvac118-B15","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":"2023050216091639100_cvac118-B16","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awh639","article-title":"Griggs RC, investigators C. The primary periodic paralyses: diagnosis, pathogenesis and treatment","volume":"129","author":"Venance","year":"2006","journal-title":"Brain"},{"key":"2023050216091639100_cvac118-B17","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.jacc.2009.03.043","article-title":"Giant T-U waves precede torsades de pointes in long QT syndrome: a systematic electrocardiographic analysis in patients with acquired and congenital QT prolongation","volume":"54","author":"Kirchhof","year":"2009","journal-title":"J Am Coll Cardiol"},{"key":"2023050216091639100_cvac118-B18","doi-asserted-by":"crossref","first-page":"151","DOI":"10.3233\/JND-200572","article-title":"Andersen-tawil syndrome presenting with complete heart block","volume":"8","author":"Suetterlin","year":"2021","journal-title":"J Neuromuscul Dis"},{"key":"2023050216091639100_cvac118-B19","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1093\/europace\/eux351","article-title":"Different responses to exercise between 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