-
Something wrong with this record ?
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....
Language English Country United States
Document type Journal Article
NLK
Free Medical Journals
from 1983 to 1 year ago
Open Access Digital Library
from 1998-01-01
- MeSH
- Amiodarone administration & dosage adverse effects MeSH
- Andersen Syndrome complications genetics therapy MeSH
- Anti-Arrhythmia Agents administration & dosage adverse effects MeSH
- Adrenergic beta-Antagonists therapeutic use MeSH
- Databases, Factual MeSH
- Defibrillators, Implantable MeSH
- Child MeSH
- Adult MeSH
- Potassium Channels, Inwardly Rectifying genetics MeSH
- Electrocardiography MeSH
- Genetic Testing MeSH
- Risk Assessment * MeSH
- Infant MeSH
- Tachycardia, Ventricular etiology therapy MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mutation MeSH
- Death, Sudden, Cardiac epidemiology MeSH
- Child, Preschool MeSH
- Arrhythmias, Cardiac etiology therapy MeSH
- Muscle Weakness etiology MeSH
- Syncope etiology therapy MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
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.
Arrhythmia and Electrophysiology Unit Instituto Nacional de Cardiologia Rio de Janeiro Brazil
Department of Cardiology and Electrotherapy Medical University of Gdansk Gdansk Poland
Department of Cardiology Hillel Yaffe Medical Center Hadera Israel
Department of Cardiology Hospital Clinico Universitario Valencia Spain
Department of Cardiology Hospital Clinico Universitario Virgen de La Arrixaca Murcia Spain
Department of Cardiology Hospital de Vinalopó Elche Spain
Department of Cardiology Hospital General Universitario de Alicante Alicante Spain
Department of Cardiology Hospital Infanta Cristina Badajoz Spain
Department of Cardiology Marqués de Valdecilla University Hospital Santander Spain
Department of Cardiology Medical University of Silesia Katowice Poland
Department of Cardiology Onassis Cardiac Surgery Center Athens Greece
Department of Cardiology Virgen de las Nieves University Hospital Granada Spain
Department of Congenital Heart Diseases National Institute of Cardiology Warsaw Poland
Department of Molecular Medicine University of Pavia Pavia Italy
Department of Pediatrics University of Medicine Hospital Stara Zagora Bulgaria
Department of Statistics and Quantitative Methods University of Milan Bicocca Milan Italy
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart
Health in Code La Coruña Spain
Molecular Cardiology Fundación Centro Nacional de Investigaciones Cardiovasculares Madrid Spain
Molecular Cardiology IRCCS ICS Maugeri Pavia Italy
NEMO Center Neurorehabilitation Unit University of Milan ASST Niguarda Hospital Milan Italy
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc20028245
- 003
- CZ-PrNML
- 005
- 20210114153322.0
- 007
- ta
- 008
- 210105s2020 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.jacc.2020.02.033 $2 doi
- 035 __
- $a (PubMed)32299589
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Mazzanti, Andrea $u 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.
- 245 10
- $a Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1 / $c 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-Esparza, M. Ortíz, A. Zienciuk-Krajka, E. Tavazzani, N. Monteforte, R. Bloise, M. Marino, M. Memmi, C. Napolitano, E. Zorio, L. Monserrat, V. Bagnardi, SG. Priori,
- 520 9_
- $a 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.
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a beta blokátory $x terapeutické užití $7 D000319
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a amiodaron $x aplikace a dávkování $x škodlivé účinky $7 D000638
- 650 _2
- $a Andersenův syndrom $x komplikace $x genetika $x terapie $7 D050030
- 650 _2
- $a antiarytmika $x aplikace a dávkování $x škodlivé účinky $7 D000889
- 650 _2
- $a srdeční arytmie $x etiologie $x terapie $7 D001145
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a databáze faktografické $7 D016208
- 650 _2
- $a náhlá srdeční smrt $x epidemiologie $7 D016757
- 650 _2
- $a defibrilátory implantabilní $7 D017147
- 650 _2
- $a elektrokardiografie $7 D004562
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a genetické testování $7 D005820
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a svalová slabost $x etiologie $7 D018908
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a draslíkové kanály dovnitř usměrňující $x genetika $7 D024661
- 650 12
- $a hodnocení rizik $7 D018570
- 650 _2
- $a synkopa $x etiologie $x terapie $7 D013575
- 650 _2
- $a komorová tachykardie $x etiologie $x terapie $7 D017180
- 650 _2
- $a mladý dospělý $7 D055815
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Guz, Dmitri $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.
- 700 1_
- $a Trancuccio, Alessandro $u Department of Molecular Medicine, University of Pavia, Pavia, Italy.
- 700 1_
- $a Pagan, Eleonora $u Department of Statistics and Quantitative Methods, University of Milan-Bicocca, Milan, Italy.
- 700 1_
- $a Kukavica, Deni $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
- 700 1_
- $a Chargeishvili, Tekla $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
- 700 1_
- $a Olivetti, Natalia $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.
- 700 1_
- $a Biernacka, Elżbieta Katarzyna $u Department of Congenital Heart Diseases, National Institute of Cardiology, Warsaw, Poland.
- 700 1_
- $a Sacilotto, Luciana $u Department of Cardiology, Hospital das Clinicas Faculdade de Medicina Universidade de São Paulo (HCFMUSP), São Paulo, Brazil.
- 700 1_
- $a Sarquella-Brugada, Georgia $u Arrhythmia Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
- 700 1_
- $a Campuzano, Oscar $u Cardiovascular Genetics Center-Gencardio, IdIBGi Medical Sciences Department, Medical School, University of Girona, Girona, Spain.
- 700 1_
- $a Nof, Eyal $u Leviev Heart Center, Chaim Sheba Medical Center Affiliated to Sackler Medical School, Tel-Aviv University, Tel Hashomer, Israel.
- 700 1_
- $a Anastasakis, Aristides $u Department of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.
- 700 1_
- $a Sansone, Valeria A $u NEMO Center, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
- 700 1_
- $a Jimenez-Jaimez, Juan $u Department of Cardiology, Virgen de las Nieves University Hospital, Granada, Spain.
- 700 1_
- $a Cruz, Fernando $u Arrhythmia and Electrophysiology Unit, Instituto Nacional de Cardiologia, Rio de Janeiro, Brazil.
- 700 1_
- $a Sánchez-Quiñones, Jessica $u Department of Cardiology, Hospital de Vinalopó, Elche, Spain.
- 700 1_
- $a Hernandez-Afonso, Julio $u Department of Cardiology, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain.
- 700 1_
- $a Fuentes, Maria Eugenia $u Department of Cardiology, Hospital Infanta Cristina, Badajoz, Spain.
- 700 1_
- $a Średniawa, Beata $u Department of Cardiology, Medical University of Silesia, Katowice, Poland.
- 700 1_
- $a Garoufi, Anastasia $u Second Department of Pediatrics, National and Kapodistrian University of Athens, "P&A Kyriakou" Children's Hospital, Athens, Greece.
- 700 1_
- $a Andršová, Irena $u Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine of Masaryk University, Brno, Czech Republic.
- 700 1_
- $a Izquierdo, Maite $u Department of Cardiology, Hospital Clinico Universitario, Valencia, Spain.
- 700 1_
- $a Marinov, Rumen $u Department of Pediatrics, University of Medicine Hospital, Stara Zagora, Bulgaria.
- 700 1_
- $a Danon, Asaf $u Department of Cardiology, Hillel Yaffe Medical Center, Hadera, Israel.
- 700 1_
- $a Expósito-García, Victor $u Department of Cardiology, Marqués de Valdecilla University Hospital, Santander, Spain.
- 700 1_
- $a Garcia-Fernandez, Amaya $u Department of Cardiology, Hospital General Universitario de Alicante, Alicante, Spain.
- 700 1_
- $a Muñoz-Esparza, Carmen $u Department of Cardiology, Hospital Clinico Universitario Virgen de La Arrixaca, Murcia, Spain.
- 700 1_
- $a Ortíz, Martín $u Health in Code, La Coruña, Spain.
- 700 1_
- $a Zienciuk-Krajka, Agnieszka $u Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdansk, Poland.
- 700 1_
- $a Tavazzani, Elisa $u Department of Molecular Medicine, University of Pavia, Pavia, Italy.
- 700 1_
- $a Monteforte, Nicola $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.
- 700 1_
- $a Bloise, Raffaella $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.
- 700 1_
- $a Marino, Maira $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.
- 700 1_
- $a Memmi, Mirella $u Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.
- 700 1_
- $a Napolitano, Carlo $u 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.
- 700 1_
- $a Zorio, Esther $u Department of Cardiology, Hospital Universitario y Politécnico La Fe,Valencia, Spain and Center for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.
- 700 1_
- $a Monserrat, Lorenzo $u Health in Code, La Coruña, Spain.
- 700 1_
- $a Bagnardi, Vincenzo $u Department of Statistics and Quantitative Methods, University of Milan-Bicocca, Milan, Italy.
- 700 1_
- $a Priori, Silvia G $u 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.
- 773 0_
- $w MED00002964 $t Journal of the American College of Cardiology $x 1558-3597 $g Roč. 75, č. 15 (2020), s. 1772-1784
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/32299589 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20210105 $b ABA008
- 991 __
- $a 20210114153318 $b ABA008
- 999 __
- $a ok $b bmc $g 1608580 $s 1119425
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2020 $b 75 $c 15 $d 1772-1784 $e 20200421 $i 1558-3597 $m Journal of the American College of Cardiology $n J. Am. Coll. Cardiol. $x MED00002964
- LZP __
- $a Pubmed-20210105
