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

J 2020

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

MAZZANTI, A., D. GUZ, A. TRANCUCCIO, E. PAGAN, D. KUKAVICA et. al.

Basic information

Original name

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

Authors

MAZZANTI, A. (380 Italy), D. GUZ (380 Italy), A. TRANCUCCIO (380 Italy), E. PAGAN (380 Italy), D. KUKAVICA (380 Italy), T. CHARGEISHVILI (380 Italy), N. OLIVETTI (380 Italy), Z. K. BIERNACKA (616 Poland), L. SACILOTTO (76 Brazil), G. SARQUELLA-BRUGADA (724 Spain), O. CAMPUZANO (724 Spain), E. NOF (376 Israel), A. ANASTASAKIS (300 Greece), V. A. SANSONE (380 Italy), J. JIMENEZ-JAIMEZ (724 Spain), F. CRUZ (76 Brazil), J. SANCHEZ-QUINONES (724 Spain), J. HERNANDEZ-AFONSO (724 Spain), M. E. FUENTES (724 Spain), B. SREDNIAWA (616 Poland), A. GAROUFI, Irena ANDRŠOVÁ (203 Czech Republic, belonging to the institution), M. IZQUIERDO (300 Greece), R. MARINOV (724 Spain), A. DANON (100 Bulgaria), V. EXPOSITO-GARCIA (724 Spain), A. GARCIA-FERNANDEZ (724 Spain), C. MUNOZ-ESPARZA (724 Spain), M. ORTIZ (724 Spain), A. ZIENCIUK-KRAJKA (616 Poland), E. TAVAZZANI (380 Italy), N. MONTEFORTE (380 Italy), R. BLOISE (380 Italy), M. MARINO (380 Italy), M. MEMMI (380 Italy), C. NAPOLITANO (380 Italy), E. ZORIO (724 Spain), L. MONSERRAT (724 Spain), V. BAGNARDI (380 Italy) and S. G. PRIORI (380 Italy, guarantor)

Edition

Journal of the American College of Cardiology, New York, Elsevier Science INC, 2020, 0735-1097

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30201 Cardiac and Cardiovascular systems

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 24.094

RIV identification code

RIV/00216224:14110/20:00116167

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.jacc.2020.02.033

UT WoS

000526108800007

Keywords in English

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

Abstract

V originále

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.

Citovat

MAZZANTI, A., D. GUZ, A. TRANCUCCIO, E. PAGAN, D. KUKAVICA, T. CHARGEISHVILI, N. OLIVETTI, Z. K. BIERNACKA, L. SACILOTTO, G. SARQUELLA-BRUGADA, O. CAMPUZANO, E. NOF, A. ANASTASAKIS, V. A. SANSONE, J. JIMENEZ-JAIMEZ, F. CRUZ, J. SANCHEZ-QUINONES, J. HERNANDEZ-AFONSO, M. E. FUENTES, B. SREDNIAWA, A. GAROUFI, Irena ANDRŠOVÁ, M. IZQUIERDO, R. MARINOV, A. DANON, V. EXPOSITO-GARCIA, A. GARCIA-FERNANDEZ, C. MUNOZ-ESPARZA, M. ORTIZ, A. ZIENCIUK-KRAJKA, E. TAVAZZANI, N. MONTEFORTE, R. BLOISE, M. MARINO, M. MEMMI, C. NAPOLITANO, E. ZORIO, L. MONSERRAT, V. BAGNARDI and S. G. PRIORI. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1. Journal of the American College of Cardiology. New York: Elsevier Science INC, 2020, vol. 75, No 15, p. 1772-1784. ISSN 0735-1097. Available from: https://dx.doi.org/10.1016/j.jacc.2020.02.033.

@article{1673743,
   author = {Mazzanti, A. and Guz, D. and Trancuccio, A. and Pagan, E. and Kukavica, D. and Chargeishvili, T. and Olivetti, N. and Biernacka, Z. K. and Sacilotto, L. and SarquellaandBrugada, G. and Campuzano, O. and Nof, E. and Anastasakis, A. and Sansone, V. A. and JimenezandJaimez, J. and Cruz, F. and SanchezandQuinones, J. and HernandezandAfonso, J. and Fuentes, M. E. and Sredniawa, B. and Garoufi, A. and Andršová, Irena and Izquierdo, M. and Marinov, R. and Danon, A. and ExpositoandGarcia, V. and GarciaandFernandez, A. and MunozandEsparza, C. and Ortiz, M. and ZienciukandKrajka, A. and Tavazzani, E. and Monteforte, N. and Bloise, R. and Marino, M. and Memmi, M. and Napolitano, C. and Zorio, E. and Monserrat, L. and Bagnardi, V. and Priori, S. G.},
   article_location = {New York},
   article_number = {15},
   doi = {http://dx.doi.org/10.1016/j.jacc.2020.02.033},
   keywords = {genetics; inherited arrhythmias; KCNJ2; life- threatening arrhythmic events; sudden cardiac death},
   language = {eng},
   issn = {0735-1097},
   journal = {Journal of the American College of Cardiology},
   title = {Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1},
   url = {https://www.sciencedirect.com/science/article/pii/S0735109720343291?via%3Dihub},
   volume = {75},
   year = {2020}
}

TY  - JOUR
ID  - 1673743
AU  - Mazzanti, A. - Guz, D. - Trancuccio, A. - Pagan, E. - Kukavica, D. - Chargeishvili, T. - Olivetti, N. - Biernacka, Z. K. - Sacilotto, L. - Sarquella-Brugada, G. - Campuzano, O. - Nof, E. - Anastasakis, A. - Sansone, V. A. - Jimenez-Jaimez, J. - Cruz, F. - Sanchez-Quinones, J. - Hernandez-Afonso, J. - Fuentes, M. E. - Sredniawa, B. - Garoufi, A. - Andršová, Irena - 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. - Zorio, E. - Monserrat, L. - Bagnardi, V. - Priori, S. G.
PY  - 2020
TI  - Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
JF  - Journal of the American College of Cardiology
VL  - 75
IS  - 15
SP  - 1772-1784
EP  - 1772-1784
PB  - Elsevier Science INC
SN  - 07351097
KW  - genetics
KW  - inherited arrhythmias
KW  - KCNJ2
KW  - life- threatening arrhythmic events
KW  - sudden cardiac death
UR  - https://www.sciencedirect.com/science/article/pii/S0735109720343291?via%3Dihub
L2  - https://www.sciencedirect.com/science/article/pii/S0735109720343291?via%3Dihub
N2  - 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.
ER  -

MAZZANTI, A., D. GUZ, A. TRANCUCCIO, E. PAGAN, D. KUKAVICA, T. CHARGEISHVILI, N. OLIVETTI, Z. K. BIERNACKA, L. SACILOTTO, G. SARQUELLA-BRUGADA, O. CAMPUZANO, E. NOF, A. ANASTASAKIS, V. A. SANSONE, J. JIMENEZ-JAIMEZ, F. CRUZ, J. SANCHEZ-QUINONES, J. HERNANDEZ-AFONSO, M. E. FUENTES, B. SREDNIAWA, A. GAROUFI, Irena ANDRŠOVÁ, M. IZQUIERDO, R. MARINOV, A. DANON, V. EXPOSITO-GARCIA, A. GARCIA-FERNANDEZ, C. MUNOZ-ESPARZA, M. ORTIZ, A. ZIENCIUK-KRAJKA, E. TAVAZZANI, N. MONTEFORTE, R. BLOISE, M. MARINO, M. MEMMI, C. NAPOLITANO, E. ZORIO, L. MONSERRAT, V. BAGNARDI and S. G. PRIORI. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1. \textit{Journal of the American College of Cardiology}. New York: Elsevier Science INC, 2020, vol.~75, No~15, p.~1772-1784. ISSN~0735-1097. Available from: https://dx.doi.org/10.1016/j.jacc.2020.02.033.

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