title: Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).
authors: Genetic Health Queensland, Royal Brisbane & Women's Hospital, Australia; All Wales Medical Genetic Service, University Hospital of Wales, Cardiff, UK. Electronic address: ian.tully2@wales.nhs.uk.
authors: I
authors: I
authors: Tully
authors: Department of Cardiology, Royal Brisbane & Women's Hospital, Australia.
authors: J
authors: J
authors: Atherton
authors: Genetic Health Queensland, Royal Brisbane & Women's Hospital, Australia.
authors: L
authors: L
authors: Hunt
authors: Centenary Institute, University of Sydney, Australia.
authors: J
authors: J
authors: Ingles
authors: Centenary Institute, University of Sydney, Australia.
authors: C
authors: C
authors: Semsarian
authors: Genetic Health Queensland, Royal Brisbane & Women's Hospital, Australia.
authors: J
authors: J
authors: McGaughran
mesh_terms: D000328:Adult; D050030:Andersen Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002648:Child; D020090:Chromosome Segregation; D003937:Diagnosis, Differential; D004562:Electrocardiography / Q000379:methods; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation; D010641:Phenotype; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics / Q000378:metabolism; D035583:Rare Diseases; D017180:Tachycardia, Ventricular / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying
keywords: Andersen-Tawil Syndrome; Arrest; Arrhythmia; CPVT; KCNJ2; periodic paralysis