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- Giuseppe Ciconte
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Michelle M Monasky
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Vincenzo Santinelli
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Emanuele Micaglio
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Gabriele Vicedomini
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Luigi Anastasia
- Stem Cells for Tissue Engineering Laboratory, IRCCS Policlinico San Donato , piazza Malan 2, 20097 San Donato Milanese, Milan, Italy
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- Gabriele Negro
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Valeria Borrelli
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Luigi Giannelli
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Francesca Santini
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Carlo de Innocentiis
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Roberto Rondine
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Emanuela T Locati
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Andrea Bernardini
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Beniamino C Mazza
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Valerio Mecarocci
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Žarko Ćalović
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
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- Andrea Ghiroldi
- Stem Cells for Tissue Engineering Laboratory, IRCCS Policlinico San Donato , piazza Malan 2, 20097 San Donato Milanese, Milan, Italy
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- Sara D’Imperio
- Stem Cells for Tissue Engineering Laboratory, IRCCS Policlinico San Donato , piazza Malan 2, 20097 San Donato Milanese, Milan, Italy
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- Sara Benedetti
- Clinical Genomics – SMEL, IRCCS San Raffaele Hospital , Milan, Italy
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- Chiara Di Resta
- Vita-Salute San Raffaele University , Milan, Italy
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- Ilaria Rivolta
- School of Medicine and Surgery, University of Milano-Bicocca , Monza, Italy
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- Giorgio Casari
- Vita-Salute San Raffaele University , Milan, Italy
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- Enrico Petretto
- Programme in Cardiovascular and Metabolic Disorders and Centre for Computational Biology, Duke-NUS Medical School Singapore , Republic of Singapore
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- Carlo Pappone
- Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato , Piazza E. Malan 1, 20097 San Donato Milanese, Milano, Italy
抄録
<jats:title>Abstract</jats:title> <jats:sec> <jats:title>Aims </jats:title> <jats:p>Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, the genotype–phenotype relationship is poorly understood and remains uncertain. This study aimed to elucidate the genotype–phenotype correlation in BrS.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods and results</jats:title> <jats:p>Brugada syndrome probands deemed at high risk of future arrhythmic events underwent genetic testing and phenotype characterization by the means of epicardial arrhythmogenic substrate (AS) mapping, and were divided into two groups according to the presence or absence of SCN5A mutation. Two-hundred probands (160 males, 80%; mean age 42.6 ± 12.2 years) were included in this study. Patients harbouring SCN5A mutations exhibited a spontaneous type 1 pattern and experienced aborted cardiac arrest or spontaneous VT/VF more frequently than the other subjects. SCN5A-positive patients exhibited a larger epicardial AS area, more prolonged electrograms and more frequently observed non-invasive late potentials. The presence of an SCN5A mutation explained >26% of the variation in the epicardial AS area and was the strongest predictor of a large epicardial area.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusion </jats:title> <jats:p>In BrS, the genetic background is the main determinant for the extent of the electrophysiological abnormalities. SCN5A mutation carriers exhibit more pronounced epicardial electrical abnormalities and a more aggressive clinical presentation. These results contribute to the understanding of the genetic determinants of the BrS phenotypic expression and provide possible explanations for the varying degrees of disease expression.</jats:p> <jats:p /> </jats:sec>
収録刊行物
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- European Heart Journal
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European Heart Journal 42 (11), 1082-1090, 2020-11-21
Oxford University Press (OUP)