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články
články
Document record
Source: BMČ - články
Title
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1 / A. Mazzanti, D. Guz, A. Trancuccio, E. Pagan, D. Kukavica, T. Chargeishvili, N. Olivetti, EK. Biernacka, L. Sacilotto, G. Sarquella-Brugada, O. Campuzano, E. Nof, A. Anastasakis, VA. Sansone, J. Jimenez-Jaimez, F. Cruz, J. Sánchez-Quiñones, J. Hernandez-Afonso, ME. Fuentes, B. Średniawa, A. Garoufi, I. Andršová, M. Izquierdo, R. Marinov, A. Danon, V. Expósito-García, A. Garcia-Fernandez, C. Muñoz-
Author
Mazzanti, Andrea
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart.

Guz, Dmitri
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.

Trancuccio, Alessandro
Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Pagan, Eleonora
Department of Statistics and Quantitative Methods, University of Milan-Bicocca, Milan, Italy.

Kukavica, Deni
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Chargeishvili, Tekla
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Olivetti, Natalia
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.

Biernacka, Elżbieta Katarzyna
Department of Congenital Heart Diseases, National Institute of Cardiology, Warsaw, Poland.

Sacilotto, Luciana
Department of Cardiology, Hospital das Clinicas Faculdade de Medicina Universidade de São Paulo (HCFMUSP), São Paulo, Brazil.

Sarquella-Brugada, Georgia
Arrhythmia Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Barcelona, Spain.

Campuzano, Oscar
Cardiovascular Genetics Center-Gencardio, IdIBGi Medical Sciences Department, Medical School, University of Girona, Girona, Spain.

Nof, Eyal
Leviev Heart Center, Chaim Sheba Medical Center Affiliated to Sackler Medical School, Tel-Aviv University, Tel Hashomer, Israel.

Anastasakis, Aristides
Department of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.

Sansone, Valeria A
NEMO Center, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.

Jimenez-Jaimez, Juan
Department of Cardiology, Virgen de las Nieves University Hospital, Granada, Spain.

Cruz, Fernando
Arrhythmia and Electrophysiology Unit, Instituto Nacional de Cardiologia, Rio de Janeiro, Brazil.

Sánchez-Quiñones, Jessica
Department of Cardiology, Hospital de Vinalopó, Elche, Spain.

Hernandez-Afonso, Julio
Department of Cardiology, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain.

Fuentes, Maria Eugenia
Department of Cardiology, Hospital Infanta Cristina, Badajoz, Spain.

Średniawa, Beata
Department of Cardiology, Medical University of Silesia, Katowice, Poland.

Garoufi, Anastasia
Second Department of Pediatrics, National and Kapodistrian University of Athens, "P&A Kyriakou" Children's Hospital, Athens, Greece.

Andršová, Irena
Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine of Masaryk University, Brno, Czech Republic.

Izquierdo, Maite
Department of Cardiology, Hospital Clinico Universitario, Valencia, Spain.

Marinov, Rumen
Department of Pediatrics, University of Medicine Hospital, Stara Zagora, Bulgaria.

Danon, Asaf
Department of Cardiology, Hillel Yaffe Medical Center, Hadera, Israel.

Expósito-García, Victor
Department of Cardiology, Marqués de Valdecilla University Hospital, Santander, Spain.

Garcia-Fernandez, Amaya
Department of Cardiology, Hospital General Universitario de Alicante, Alicante, Spain.

Muñoz-Esparza, Carmen
Department of Cardiology, Hospital Clinico Universitario Virgen de La Arrixaca, Murcia, Spain.

Ortíz, Martín
Health in Code, La Coruña, Spain.

Zienciuk-Krajka, Agnieszka
Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdansk, Poland.

Tavazzani, Elisa
Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Monteforte, Nicola
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.

Bloise, Raffaella
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.

Marino, Maira
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.

Memmi, Mirella
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.

Napolitano, Carlo
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart.

Zorio, Esther
Department of Cardiology, Hospital Universitario y Politécnico La Fe,Valencia, Spain and Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.

Monserrat, Lorenzo
Health in Code, La Coruña, Spain.

Bagnardi, Vincenzo
Department of Statistics and Quantitative Methods, University of Milan-Bicocca, Milan, Italy.

Priori, Silvia G
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Molecular Cardiology, Fundación Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain. Electronic address: silvia.priori@icsmaugeri.it.

Cited source
Journal of the American College of Cardiology. 2020, roč. 75, č. 15, s. 1772-1784. ISSN: 0735-1097; 1558-3597 (elektronická verze).
Date of issue
2020
Language
angličtina
Country
Spojené státy americké
Document type
články
DOI
Pubmed ID
Link
Record number
bmc20028245
Persistent link
MESH descriptor
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English 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.
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