{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:40:38Z","timestamp":1756460438882},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,9,16]],"date-time":"2013-09-16T00:00:00Z","timestamp":1379289600000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Noninvasive Electrocardiol"],"published-print":{"date-parts":[[2013,9]]},"abstract":"Background<\/jats:title>Andersen\u2010Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2<\/jats:italic> and low prevalence of life\u2010threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown mutation (c.271_282del12[p.Ala91_Leu94del]) in the KCNJ2<\/jats:italic> gene.<\/jats:p><\/jats:sec>Methods<\/jats:title>A cascade family screening was performed in a 5\u2010generation family after identification of the KCNJ2 mutation in the proband. Subsequently, 10 of 21 screened individuals appeared to be mutation carriers (median age 38 [range 10\u201375] years, 3 female).\u00a0 Mutation carriers underwent clinical examination including biochemistry panel, cardiac ultrasound, Holter ECG, and exercise stress test.<\/jats:p><\/jats:sec>Results<\/jats:title>(1) At baseline, 2 patients had survived ACA, 3 had syncope or presyncopal attacks, and 2 reported palpitations. Exercise\u2010induced nonsustained bidirectional ventricular tachycardia was documented in 4 patients, 2 received implantable cardioverter\u2010defibrillators (ICD) for primary prevention and 2 for secondary prevention. (2) During follow\u2010up, 1 primary prevention and 1 secondary prevention patient received in total 4 adequate ICD shocks. Life\u2010threatening ventricular arrhythmias were documented during childhood in 5 of 10 mutation carriers. (3) All mutation carriers presented with characteristic mild dysmorphic features. Only 1 patient suffered from periodic paralysis. All had normal serum potassium level at repeated assessments and none had any other extracardiac disease manifestation.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our findings suggest that the novel KCNJ2 mutation is associated with a predominantly cardiac phenotype of Andersen\u2010Tawil syndrome with high propensity to life\u2010threatening ventricular arrhythmias presenting from childhood and young adulthood.<\/jats:p><\/jats:sec>","DOI":"10.1111\/anec.12074","type":"journal-article","created":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T03:47:34Z","timestamp":1379562454000},"page":"471-478","source":"Crossref","is-referenced-by-count":10,"title":["Novel Mutation in the KCNJ2<\/i> Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen\u2010Tawil Syndrome"],"prefix":"10.1111","volume":"18","author":[{"given":"E.","family":"Fernlund","sequence":"first","affiliation":[{"name":"Childrens Heart Center, Lund University and Skane University Hospital Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Lundin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University and Regional Laboratories Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Hertervig","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Lund University and Skane University Hospital Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Kongstad","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Lund University and Skane University Hospital Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Alders","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam The 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