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Patients with ATS present with episodes of muscle weakness, arrythmias, including prolonged QT intervals, and various skeletal abnormalities. Unlike other channelopathies, ATS has a relatively mild clinical course and low risk of sudden cardiac death. In this study, we describe a female patient with typical symptoms of ATS with the addition of unusually severe arrhythmias. Extensive DNA testing was performed to find the possible cause of this unique presentation. In addition to a known mutation in <jats:italic>KCNJ2<\/jats:italic>, the patient carried a variant in <jats:italic>KCNH2<\/jats:italic>. The combination of genetic variants may lead to the severe clinical manifestation of ATS. Additional genetic information allowed accurate genetic counselling to be provided to the patient.<\/jats:p>","DOI":"10.1136\/bcr-2020-235703","type":"journal-article","created":{"date-parts":[[2020,8,26]],"date-time":"2020-08-26T01:35:28Z","timestamp":1598405728000},"page":"e235703","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Compound heterozygous mutations in <i>KCNJ2<\/i> and <i>KCNH2<\/i> in a patient with severe Andersen-Tawil syndrome"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4923-1945","authenticated-orcid":false,"given":"Margarita E","family":"Polyak","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Petrovsky National Research Centre of Surgery, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Shestak","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Petrovsky National Research Centre of Surgery, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitriy","family":"Podolyak","sequence":"additional","affiliation":[{"name":"Department of Surgical Treatment of Complex Arrhythmias and Pacing, Petrovsky National Research Centre of Surgery, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Zaklyazminskaya","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Petrovsky National Research Centre of Surgery, Moscow, Russian Federation"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,8,25]]},"reference":[{"key":"2025082803200884000_13.8.e235703.1","unstructured":"Veerapandiyan A , Statland JM , Tawil R . Andersen-Tawil Syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1264\/"},{"key":"2025082803200884000_13.8.e235703.2","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1111\/anec.12074","article-title":"Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome","volume":"18","author":"Fernlund","year":"2013","journal-title":"Ann Noninvasive Electrocardiol"},{"key":"2025082803200884000_13.8.e235703.3","unstructured":"Genetics Home Reference . Andersen-Tawil syndrome. 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