作者
Andrea Mazzanti, Dmitri Guz, Alessandro Trancuccio, Eleonora Pagan, Deni Kukavica, Tekla Chargeishvili, Natalia Olivetti, Elżbieta Katarzyna Biernacka, Luciana Sacilotto, Georgia Sarquella-Brugada, Oscar Campuzano, Eyal Nof, Aristides Anastasakis, Valeria A Sansone, Juan Jimenez-Jaimez, Fernando Cruz, Jessica Sánchez-Quiñones, Julio Hernandez-Afonso, Maria Eugenia Fuentes, Beata Średniawa, Anastasia Garoufi, Irena Andršová, Maite Izquierdo, Rumen Marinov, Asaf Danon, Victor Expósito-García, Amaya Garcia-Fernandez, Carmen Muñoz-Esparza, Martín Ortíz, Agnieszka Zienciuk-Krajka, Elisa Tavazzani, Nicola Monteforte, Raffaella Bloise, Maira Marino, Mirella Memmi, Carlo Napolitano, Esther Zorio, Lorenzo Monserrat, Vincenzo Bagnardi, Silvia G Priori
发表日期
2020/4/21
期刊
Journal of the American College of Cardiology
卷号
75
期号
15
页码范围
1772-1784
出版商
American College of Cardiology Foundation
简介
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 …
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A Mazzanti, D Guz, A Trancuccio, E Pagan, D Kukavica… - Journal of the American College of Cardiology, 2020