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Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome
Institution:1. Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Unit of Cardiology, Ankara, Turkey;2. Ankara City Hospital, Department of Child Health and Diseases, Unit of Cardiology, Ankara, Turkey;3. Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Unit of Genetics, Ankara, Turkey;4. University of Health Sciences, Department of Pediatric Genetics, Ankara City Hospital, Ankara, Turkey;1. Montpellier University, ERN ITHACA, Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre Hospitalier Universitaire de Montpellier, Centre de Compétence Maladies Osseuses Constitutionnelles, INSERM U1183, Montpellier, France;2. Institut Saint-Pierre, Département de Médecine Physique et Réadaptation Pédiatrique, Palavas-Les-Flots, France;3. Montpellier University, Département d’Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France;4. Service de Biochimie Médicale et Génétique Moléculaire, Centre Hospitalier Universitaire Gabriel Montpied, Laboratoire AURAGEN (Plan France Médecine Génomique 2025), Clermont-Ferrand, France;5. Laboratoire de Génétique Chromosomique et Moléculaire, CHU-Hôpital Nord, Laboratoire AURAGEN (Plan France Médecine Génomique 2025), Saint Étienne, France;6. Montpellier University, Département de Pédiatrie Spécialisée, Centre de Compétence Maladies Endocriniennes Rares, Centre Hospitalier Universitaire de Montpellier, Montpellier, France;1. Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan;2. Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan;3. Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan;1. Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel;2. Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, E. Jerusalem, Palestine;3. Department of Radiology, Hadassah Medical Organization, Jerusalem, Israel;4. Division of Ophthalmology, Hadassah Medical Organization, Jerusalem, Israel;5. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel;1. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan;2. Department of Clinical Genetics, Tokyo Metropolitan Children''s Medical Center, Tokyo, Japan;3. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;1. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA;2. Department of Genetics, Kaiser Permanente, San Bernadino County, Fontana, CA, USA;3. Department of Cardiology, Department of Medicine, University of California, Irvine, CA, USA;4. Department of Radiology, University of California, Irvine, CA, USA;5. Cardiology, Lakeland Heart and Vascular, St Joseph, MI, USA;6. Department of Neurology, Department of Pathology, University of California, Irvine, CA, USA;1. Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA, 94143-0748, USA;2. Department of Pathology, University of California San Francisco, San Francisco, CA, 94143, USA
Abstract:Andersen-Tawil syndrome is a rare autosomal dominant genetic or sporadic disorder characterized by periodic paralysis, ventricular arrhythmias and dysmorphic features. Ventricular arrhythmias can include frequent premature ventricular complex, polymorphic ventricular tachycardia, and less frequently bidirectional ventricular tachycardia. Left ventricle function has been reported in only a few individual cases of Andersen-Tawil syndrome. A 14-year-old female patient was referred to our clinic from another center with documented arrhythmia and left ventricular systolic dysfunction. Andersen-Tawil syndrome was suspected and the diagnosis was confirmed after detection of a previously unreported mutation in children. We report the successful use of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy in a case of Andersen-Tawil syndrome associated with a novel mutation.
Keywords:Andersen-Tawil syndrome  Ventricular arrhythmias  Left ventricular dysfunction  Flecainide  Novel mutation
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