Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
| Autor: | Eyal Nof, Fernando E.S. Cruz, Victor Expósito-García, Luciana Sacilotto, Andrea Mazzanti, Jessica Sánchez-Quiñones, Elżbieta Katarzyna Biernacka, Esther Zorio, Deni Kukavica, Carmen Muñoz-Esparza, Julio Hernandez-Afonso, Elisa Tavazzani, Oscar Campuzano, Asaf Danon, Juan Jiménez-Jáimez, Martín Ortiz, Tekla Chargeishvili, Lorenzo Monserrat, Agnieszka Zienciuk-Krajka, Aristides Anastasakis, Carlo Napolitano, Eleonora Pagan, Maira Marino, Dmitri Guz, Amaya Garcia-Fernandez, Mirella Memmi, Beata Średniawa, Natália Olivetti, Valeria A. Sansone, Rumen Marinov, Georgia Sarquella-Brugada, Maite Izquierdo, Nicola Monteforte, Raffaella Bloise, María Eugenia Fuentes, Irena Andršová, Vincenzo Bagnardi, Silvia G. Priori, Alessandro Trancuccio, Anastasia Garoufi |
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| Přispěvatelé: | Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Kukavica, D, Chargeishvili, T, Olivetti, N, Biernacka, E, Sacilotto, L, Sarquella-Brugada, G, Campuzano, O, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Sanchez-Quinones, J, Hernandez-Afonso, J, Fuentes, M, Sredniawa, B, Garoufi, A, Andrsova, I, Izquierdo, M, Marinov, R, Danon, A, Exposito-Garcia, V, Garcia-Fernandez, A, Munoz-Esparza, C, Ortiz, M, Zienciuk-Krajka, A, Tavazzani, E, Monteforte, N, Bloise, R, Marino, M, Memmi, M, Napolitano, C, Zorio, E, Monserrat, L, Bagnardi, V, Priori, S |
| Rok vydání: | 2019 |
| Předmět: |
Male
Databases Factual Amiodarone 030204 cardiovascular system & hematology Sudden cardiac death Electrocardiography 0302 clinical medicine Interquartile range genetics 030212 general & internal medicine Child sudden cardiac death genetics inherited arrhythmias KCNJ2 life-threatening arrhythmic events Andersen Syndrome Muscle Weakness Hazard ratio Middle Aged 3. Good health Defibrillators Implantable Natural history Child Preschool Risk stratification Cohort Female Cardiology and Cardiovascular Medicine Anti-Arrhythmia Agents inherited arrhythmias medicine.drug Adult medicine.medical_specialty Adolescent Adrenergic beta-Antagonists Risk Assessment sudden cardiac death Syncope life- threatening arrhythmic events 03 medical and health sciences Young Adult Andersen–Tawil syndrome Internal medicine medicine Humans Genetic Testing KCNJ2 Potassium Channels Inwardly Rectifying KCNJ2 genetics inherited arrhythmias life-threatening arrhythmic events sudden cardiac death business.industry Infant Arrhythmias Cardiac medicine.disease life-threatening arrhythmic events Death Sudden Cardiac Mutation Tachycardia Ventricular business |
| Zdroj: | JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante |
| ISSN: | 1558-3597 0735-1097 |
| Popis: | BACKGROUND Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS We enrolled 118 patients with ATS1 from 57 families (age 23 +/- 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1. (C) 2020 Published by Elsevier on behalf of the American College of Cardiology Foundation. |
| Databáze: | OpenAIRE |
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