Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F20%3A00116167" target="_blank" >RIV/00216224:14110/20:00116167 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/20:00072721
Result on the web
<a href="https://www.sciencedirect.com/science/article/pii/S0735109720343291?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S0735109720343291?via%3Dihub</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jacc.2020.02.033" target="_blank" >10.1016/j.jacc.2020.02.033</a>
Alternative languages
Result language
angličtina
Original language name
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of the American College of Cardiology
ISSN
0735-1097
e-ISSN
1558-3597
Volume of the periodical
75
Issue of the periodical within the volume
15
Country of publishing house
US - UNITED STATES
Number of pages
13
Pages from-to
1772-1784
UT code for WoS article
000526108800007
EID of the result in the Scopus database
2-s2.0-85082749906