RT Journal Article
T1 Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.
A1 Mazzanti, Andrea
A1 Guz, Dmitri
A1 Trancuccio, Alessandro
A1 Pagan, Eleonora
A1 Kukavica, Deni
A1 Chargeishvili, Tekla
A1 Olivetti, Natalia
A1 Biernacka, Elżbieta Katarzyna
A1 Sacilotto, Luciana
A1 Sarquella-Brugada, Georgia
A1 Campuzano, Oscar
A1 Nof, Eyal
A1 Anastasakis, Aristides
A1 Sansone, Valeria A
A1 Jimenez-Jaimez, Juan
A1 Cruz, Fernando
A1 Sánchez-Quiñones, Jessica
A1 Hernandez-Afonso, Julio
A1 Fuentes, Maria Eugenia
A1 Średniawa, Beata
A1 Garoufi, Anastasia
A1 Andršová, Irena
A1 Izquierdo, Maite
A1 Marinov, Rumen
A1 Danon, Asaf
A1 Expósito-García, Victor
A1 Garcia-Fernandez, Amaya
A1 Muñoz-Esparza, Carmen
A1 Ortíz, Martín
A1 Zienciuk-Krajka, Agnieszka
A1 Tavazzani, Elisa
A1 Monteforte, Nicola
A1 Bloise, Raffaella
A1 Marino, Maira
A1 Memmi, Mirella
A1 Napolitano, Carlo
A1 Zorio, Esther
A1 Monserrat, Lorenzo
A1 Bagnardi, Vincenzo
A1 Priori, Silvia G
K1 KCNJ2
K1 genetics
K1 inherited arrhythmias
K1 life-threatening arrhythmic events
K1 sudden cardiac death
AB 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. 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. 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. 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  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.
YR 2020
FD 2020
LK http://hdl.handle.net/10668/15382
UL http://hdl.handle.net/10668/15382
LA en
DS RISalud
RD Apr 18, 2025