Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

Fecha de publicación: 21/04/2020

Autores de IIS La Fe

Esther Zorio Grima

Autor

Participantes ajenos a IIS La Fe

Mazzanti, A
Guz, D
Trancuccio, A
Pagan, E
Kukavica, D
Chargeishvili, T
Olivetti, N
Biernacka, ZK
Sacilotto, L
Sarquella-Brugada, G
Campuzano, O
Nof, E
Anastasakis, A
Sansone, VA
Jimenez-Jaimez, J
Cruz, F
Sanchez-Quinones, J
Hernandez-Afonso, J
Fuentes, ME
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
Monserrat, L
Bagnardi, V
Priori, SG

Grupos

Cardiopatías familiares, muerte súbita y mecanismos de enfermedad (CAFAMUSME)

Investigador Principal

Aitana Braza Boils

Abstract

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.

Datos de la publicación

ISSN/ISSNe:: 0735-1097, 1558-3597
Tipo:: Article
Páginas:: 1772-1784
DOI:: 10.1016/j.jacc.2020.02.033
Factor de Impacto:: 10,315 SCImago ℠
Cuartil:: Q1 SCImago ℠

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Filiaciones

Keywords

genetics; inherited arrhythmias; KCNJ2; life- threatening arrhythmic events; sudden cardiac death

Campos de estudio

Proyectos asociados

RED INVESTIGACION (RECAVA)

RD06/0014/0004 . INSTITUTO DE SALUD CARLOS III; FUNDACION PARA LA INV BIOMEDICA- HOSPITAL GREGORIO MARAÑON; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2006