| Autor: |
Mazzanti, A. Guz, D. Trancuccio, A. Pagan, E. Kukavica, D. Chargeishvili, T. Olivetti, N. Biernacka, E.K. Sacilotto, L. Sarquella-Brugada, G. Campuzano, O. Nof, E. Anastasakis, A. Sansone, V.A. Jimenez-Jaimez, J. Cruz, F. Sánchez-Quiñones, J. Hernandez-Afonso, J. Fuentes, M.E. Średniawa, B. Garoufi, A. Andršová, I. Izquierdo, M. Marinov, R. Danon, A. Expósito-García, V. Garcia-Fernandez, A. Muñoz-Esparza, C. Ortíz, M. Zienciuk-Krajka, A. Tavazzani, E. Monteforte, N. Bloise, R. Marino, M. Memmi, M. Napolitano, C. Zorio, E. Monserrat, L. Bagnardi, V. Priori, S.G. |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| 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. © 2020 |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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