{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:09:57Z","timestamp":1777856997597,"version":"3.51.4"},"reference-count":7,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T00:00:00Z","timestamp":1602547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2020,10,13]]},"abstract":"<jats:p>Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features. Episodes of either muscle weakness or cardiac arrhythmia may predominate however, and dysmorphic features may be subtle, masking the true breadth of the clinical presentation, and posing a diagnostic challenge. The severity of cardiac involvement varies but includes reports of life-threatening events or sudden cardiac death, usually attributed to ventricular tachyarrhythmias. We report the first case of advanced atrioventricular (AV) block in ATS and highlight clinical factors that may delay diagnosis.<\/jats:p>","DOI":"10.3233\/jnd-200572","type":"journal-article","created":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T13:28:34Z","timestamp":1602595714000},"page":"151-154","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Andersen-Tawil Syndrome Presenting with Complete Heart Block"],"prefix":"10.1177","volume":"8","author":[{"given":"Karen","family":"Suetterlin","sequence":"first","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, and Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roope","family":"M\u00e4nnikk\u00f6","sequence":"additional","affiliation":[{"name":"Queen Square Centre for Neuromuscular 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G","family":"Hanna","sequence":"additional","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, and Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kostas","family":"Savvatis","sequence":"additional","affiliation":[{"name":"Inherited Cardiovascular Diseases Unit, Barts Heart Centre, Barts Healthcare NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Matthews","sequence":"additional","affiliation":[{"name":"Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, and Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK"},{"name":"Atkinson Morley Neuromuscular Centre, Department of Neurology, St George\u2019s University Hospitals NHS Foundation Trust, London, 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