AIMS: The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres. METHODS AND RESULTS: Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants. CONCLUSION: Future studies are warranted to further characterize the role of these specific SCN10A variants. Published on behalf of the European Society of Cardiology. All rights reserved.
AIMS: The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres. METHODS AND RESULTS: Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants. CONCLUSION: Future studies are warranted to further characterize the role of these specific SCN10A variants. Published on behalf of the European Society of Cardiology. All rights reserved.
Authors: Michelle M Monasky; Emanuele Micaglio; Giuseppe Ciconte; Valeria Borrelli; Luigi Giannelli; Gabriele Vicedomini; Andrea Ghiroldi; Luigi Anastasia; Emanuela T Locati; Sara Benedetti; Chiara Di Resta; Giorgio Casari; Carlo Pappone Journal: Int J Mol Sci Date: 2020-08-17 Impact factor: 5.923
Authors: Michelle M Monasky; Emanuele Micaglio; Daniela Giachino; Giuseppe Ciconte; Luigi Giannelli; Emanuela T Locati; Elisa Ramondini; Roberta Cotugno; Gabriele Vicedomini; Valeria Borrelli; Andrea Ghiroldi; Luigi Anastasia; Carlo Pappone Journal: Int J Mol Sci Date: 2019-11-06 Impact factor: 5.923
Authors: Emanuele Micaglio; Michelle M Monasky; Nicoletta Resta; Rosanna Bagnulo; Giuseppe Ciconte; Luigi Gianelli; Emanuela T Locati; Gabriele Vicedomini; Valeria Borrelli; Andrea Ghiroldi; Luigi Anastasia; Sara Benedetti; Chiara Di Resta; Maurizio Ferrari; Carlo Pappone Journal: Int J Mol Sci Date: 2019-10-04 Impact factor: 5.923