Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants

被引:14
作者
Monasky, Michelle M. [1 ]
Micaglio, Emanuele [1 ]
Vicedomini, Gabriele [1 ]
Locati, Emanuela T. [1 ]
Ciconte, Giuseppe [1 ]
Giannelli, Luigi [1 ]
Giordano, Federica [1 ]
Crisa, Simonetta [1 ]
Vecchi, Mattia [1 ]
Borrelli, Valeria [1 ]
Ghiroldi, Andrea [2 ]
D'Imperio, Sara [1 ,2 ]
Di Resta, Chiara [3 ,4 ]
Benedetti, Sara [5 ]
Ferrari, Maurizio [3 ,4 ,5 ]
Santinelli, Vincenzo [1 ]
Anastasia, Luigi [2 ,6 ]
Pappone, Carlo [1 ]
机构
[1] IRCCS Policlin San Donato, Dept Arrhythmol, Piazza E Malan 1, I-20097 Milan, Italy
[2] IRCCS Policlin San Donato, Stem Cells Tissue Engn Lab, Piazza Malan 2, I-20097 Milan, Italy
[3] IRCCS San Raffaele Hosp, Div Genet & Cellular Biol, Genom Unit Diag Human Pathol, Milan, Italy
[4] Univ Vita Salute San Raffaele, Milan, Italy
[5] IRCCS San Raffaele Hosp, Lab Clin Mol Biol & Cytogenet, Milan, Italy
[6] Univ Milan, Dept Biomed Sci Hlth, Via Luigi Mangiagalli 31, I-20133 Milan, Italy
来源
EUROPACE | 2019年 / 21卷 / 10期
关键词
Brugada syndrome; Sudden cardiac death; Sodium channel; Variant; SCN10A; SCN5A; CHANNELS; COMMON;
D O I
10.1093/europace/euz186
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 Na(V)1.8 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.
引用
收藏
页码:1550 / 1558
页数:9
相关论文
共 20 条
[1]   J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge [J].
Antzelevitch, Charles ;
Yan, Gan-Xin ;
Ackerman, Michael J. ;
Borggrefe, Martin ;
Corrado, Domenico ;
Guo, Jihong ;
Gussak, Ihor ;
Hasdemir, Can ;
Horie, Minoru ;
Huikuri, Heikki ;
Ma, Changsheng ;
Morita, Hiroshi ;
Nam, Gi-Byoung ;
Sacher, Frederic ;
Shimizu, Wataru ;
Viskin, Sami ;
Wilde, Arthur A. M. .
EUROPACE, 2017, 19 (04) :665-694
[2]   Distribution and intensity of constraint in mammalian genomic sequence [J].
Cooper, GM ;
Stone, EA ;
Asimenos, G ;
Green, ED ;
Batzoglou, S ;
Sidow, A .
GENOME RESEARCH, 2005, 15 (07) :901-913
[3]   Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis [J].
Dewar, Laura J. ;
Alcaide, Miguel ;
Fornika, Daniel ;
D'Amato, Luisa ;
Shafaatalab, Sanam ;
Stevens, Charles M. ;
Balachandra, Thambirajah ;
Phillips, Susan M. ;
Sanatani, Shubhayan ;
Morin, Ryan D. ;
Tibbits, Glen F. .
CIRCULATION-CARDIOVASCULAR GENETICS, 2017, 10 (04)
[4]   Novel SCN10A variants associated with Brugada syndrome [J].
Fukuyama, Megumi ;
Ohno, Seiko ;
Makiyama, Takeru ;
Horie, Minoru .
EUROPACE, 2016, 18 (06) :905-911
[5]   Homozygosity for the SCN10A Polymorphism rs6795970 Is Associated With Hypoalgesic Inflammatory Bowel Disease Phenotype [J].
Gonzalez-Lopez, Eugene ;
Kawasawa, Yuka Lmamura ;
Walter, Vonn ;
Zhang, Lijun ;
Koltun, Walter A. ;
Huang, Xuemei ;
Vranalt, Kent E. ;
Coates, Matthew D. .
FRONTIERS IN MEDICINE, 2018, 5
[6]   High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia [J].
Hasdemir, Can ;
Payzin, Serdar ;
Kocabas, Umut ;
Sahin, Hatice ;
Yildirim, Nihal ;
Alp, Alpay ;
Aydin, Mehmet ;
Pfeiffer, Ryan ;
Burashnikov, Elena ;
Wu, Yuesheng ;
Antzelevitch, Charles .
HEART RHYTHM, 2015, 12 (07) :1584-1594
[7]   An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing [J].
Kapplinger, Jamie D. ;
Tester, David J. ;
Alders, Marielle ;
Benito, Begona ;
Berthet, Myriam ;
Brugada, Josep ;
Brugada, Pedro ;
Fressart, Veronique ;
Guerchicoff, Alejandra ;
Harris-Kerr, Carole ;
Kamakura, Shiro ;
Kyndt, Florence ;
Koopmann, Tamara T. ;
Miyamoto, Yoshihiro ;
Pfeiffer, Ryan ;
Pollevick, Guido D. ;
Probst, Vincent ;
Zumhagen, Sven ;
Vatta, Matteo ;
Towbin, Jeffrey A. ;
Shimizu, Wataru ;
Schulze-Bahr, Eric ;
Antzelevitch, Charles ;
Salisbury, Benjamin A. ;
Guicheney, Pascale ;
Wilde, Arthur A. M. ;
Brugada, Ramon ;
Schott, Jean-Jacques ;
Ackerman, Michael J. .
HEART RHYTHM, 2010, 7 (01) :33-46
[8]   Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction [J].
Macri, Vincenzo ;
Brody, Jennifer A. ;
Arking, Dan E. ;
Hucker, William J. ;
Yin, Xiaoyan ;
Lin, Honghuang ;
Mills, Robert W. ;
Sinner, Moritz F. ;
Lubitz, Steven A. ;
Liu, Ching-Ti ;
Morrison, Alanna C. ;
Alonso, Alvaro ;
Li, Ning ;
Fedorov, Vadim V. ;
Janssen, Paul M. ;
Bis, Joshua C. ;
Heckbert, Susan R. ;
Dolmatova, Elena V. ;
Lumley, Thomas ;
Sitlani, Colleen M. ;
Cupples, L. Adrienne ;
Pulit, Sara L. ;
Newton-Cheh, Christopher ;
Barnard, John ;
Smith, Jonathan D. ;
Van Wagoner, David R. ;
Chung, Mina K. ;
Vlahakes, Gus J. ;
O'Donnell, Christopher J. ;
Rotter, Jerome I. ;
Margulies, Kenneth B. ;
Morley, Michael P. ;
Cappola, Thomas P. ;
Benjamin, Emelia J. ;
Muzny, Donna ;
Gibbs, Richard A. ;
Jackson, Rebecca D. ;
Magnani, Jared W. ;
Herndon, Caroline N. ;
Rich, Stephen S. ;
Psaty, Bruce M. ;
Milan, David J. ;
Boerwinkle, Eric ;
Mohler, Peter J. ;
Sotoodehnia, Nona ;
Ellinor, Patrick T. .
CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2018, 11 (05) :e001663
[9]   Calcium in Brugada Syndrome: Questions for Future Research [J].
Monasky, Michelle M. ;
Pappone, Carlo ;
Piccoli, Marco ;
Ghiroldi, Andrea ;
Micaglio, Emanuele ;
Anastasia, Luigi .
FRONTIERS IN PHYSIOLOGY, 2018, 9
[10]   Prevention of Ventricular Fibrillation Episodes in Brugada Syndrome by Catheter Ablation Over the Anterior Right Ventricular Outflow Tract Epicardium [J].
Nademanee, Koonlawee ;
Veerakul, Gumpanart ;
Chandanamattha, Pakorn ;
Chaothawee, Lertlak ;
Ariyachaipanich, Aekarach ;
Jirasirirojanakorn, Kriengkrai ;
Likittanasombat, Khanchit ;
Bhuripanyo, Kiertijai ;
Ngarmukos, Tachapong .
CIRCULATION, 2011, 123 (12) :1270-U38