{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:39:29Z","timestamp":1760783969162},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T00:00:00Z","timestamp":1435104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Noninvasive Electrocardiol"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Andersen\u2013Tawil Syndrome (ATS) is a channelopathy caused by mutations in <jats:italic>KCNJ2<\/jats:italic> gene. It is characterized by symptoms of ventricular arrhythmias, periodic paralysis or muscle weakness, and dysmorphic features. ATS can present with the triad of symptoms, any combination or none of them. Risk factors for dangerous arrhythmias are unknown. The study assessed the impact of K897T polymorphism in <jats:italic>hERG1<\/jats:italic> gene and H558R polymorphism in <jats:italic>SCN5A<\/jats:italic> gene coexisting with R218Q mutation in <jats:italic>KCNJ2<\/jats:italic> in one family on clinical manifestation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Family members underwent clinical assessment, ECG and genotyping. Holter monitoring was performed in mutation carriers and additionally in one family member with no mutation, but with K897T polymorphism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Proband with ATS mutation, K897T and H558R polymorphisms and proband's sister with ATS mutation and K897T polymorphism presented following symptoms: loss of consciousness, bidirectional and polymorphic ventricular tachycardia and about 5000 ventricular extrasystoles. Symptoms presented by the member with only the ATS mutation and by member with ATS mutation and H558R polymorphism were not as severe. U wave appeared in all examined family members regardless of the mutation presence. Studied individuals with ATS mutation had the T\u2010peak\u2013U\u2010peak interval longer than 200 ms. In all ATS mutation carriers it was longer than in family members with no mutation. T\u2010peak\u2013T\u2010end interval was the longest (&gt;120 ms) in members with coexisting mutation and K897T polymorphism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>ATS severity possibly depends on other genes\u2019 polymorphisms. In the presented family, it could depend on the presence of K897T polymorphism in <jats:italic>hERG1<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/anec.12283","type":"journal-article","created":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T07:22:18Z","timestamp":1435130538000},"page":"189-195","source":"Crossref","is-referenced-by-count":11,"title":["Coexistence of Andersen\u2013Tawil Syndrome with Polymorphisms in <i>hERG1<\/i> Gene (K897T) and <i>SCN5A<\/i> Gene (H558R) in One Family"],"prefix":"10.1111","volume":"21","author":[{"given":"Michalina","family":"Jagodzi\u0144ska","sequence":"first","affiliation":[{"name":"Student Research Group Institute of Cardiology  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Szperl","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Institute of Cardiology  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Poni\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Institute of Cardiology  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Kosiec","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Institute of Cardiology  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Gajda","sequence":"additional","affiliation":[{"name":"Medical Center \"Gajda\u2010Med\"  Pu\u0142tusk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Kukla","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Internal Medicine Specialist Hospital  Gorlice Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta 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