Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome

被引:4
|
作者
Chen, Gan-Xiao [1 ,2 ,3 ]
Barajas-Martinez, Hector [4 ,5 ,6 ]
Ciconte, Giuseppe [7 ,8 ,9 ]
Wu, Cheng-, I [10 ,11 ]
Monasky, Michelle M. [7 ]
Xia, Hao [1 ,2 ,3 ]
Li, Bian [12 ,13 ]
Capra, John A. [14 ,15 ]
Guo, Kai [16 ]
Zhang, Zhong-He [1 ,2 ,3 ]
Chen, Xiu [1 ,2 ,3 ]
Yang, Bo [1 ,2 ,3 ]
Jiang, Hong [1 ,2 ,3 ]
Tse, Gary [17 ,18 ,19 ]
Mak, Chloe Miu [20 ]
Aizawa, Yoshiyasu [21 ]
Gollob, Michael H. [22 ,23 ]
Antzelevitch, Charles [4 ,5 ,6 ]
Wilde, Arthur A. M. [10 ]
Pappone, Carlo [7 ,8 ,9 ]
Hu, Dan [1 ,2 ,3 ]
机构
[1] Wuhan Univ, Renmin Hosp, Dept Cardiol, 238 Jiefang Rd, Wuhan 430060, Hubei, Peoples R China
[2] Wuhan Univ, Cardiovasc Res Inst, Renmin Hosp, 238 Jiefang Rd, Wuhan 430060, Hubei, Peoples R China
[3] Hubei Key Lab Cardiol, Wuhan, Hubei, Peoples R China
[4] Lankenau Inst Med Res, Wynnwood, PA USA
[5] Lankenau Heart Inst, Wynnwood, PA USA
[6] Jefferson Med Coll, Philadelphia, PA USA
[7] IRCCS Policlin San Donato, Arrhythmia & Electrophysiol Ctr, Milan, Italy
[8] Univ Vita Salute San Raffaele, Milan, Italy
[9] Inst Mol & Translat Cardiol IMTC, Milan, Italy
[10] Univ Amsterdam, Amsterdam UMC, Heart Ctr, Dept Clin & Expt Cardiol,Amsterdam Cardiovasc Sci, Amsterdam, Netherlands
[11] Taipei Vet Gen Hosp, Heart Rhythm Ctr, Dept Med, Div Cardiol, Taipei, Taiwan
[12] Vanderbilt Univ, Dept Biol Sci, 221 Kirkland Hall, Nashville, TN 37235 USA
[13] Vanderbilt Univ, Ctr Struct Biol, 221 Kirkland Hall, Nashville, TN 37235 USA
[14] Univ Calif San Francisco, Bakar Computat Hlth Sci Inst, San Francisco, CA 94143 USA
[15] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA
[16] Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Cardiol, Shanghai, Peoples R China
[17] Tianjin Med Univ, Tianjin Inst Cardiol, Dept Cardiol,Hosp 2, Tianjin Key Lab Ion Mol Funct Cardiovasc Dis, Tianjin, Peoples R China
[18] Kent & Medway Med Sch, Canterbury, Kent, England
[19] Metropolitan Univ, Sch Nursing & Hlth Studies, Hong Kong, Peoples R China
[20] Hong Kong Childrens Hosp, Dept Pathol, Hong Kong, Peoples R China
[21] Int Univ Hlth & Welf, Sch Med, Dept Cardiovasc Med, 4-3 Kozunomori, Narita, Chiba, Japan
[22] Univ Toronto, Dept Physiol, Toronto, ON, Canada
[23] Univ Toronto, Div Cardiol, Toronto, ON, Canada
来源
EBIOMEDICINE | 2023年 / 87卷
基金
美国国家卫生研究院;
关键词
Brugada syndrome; Fever; Genetics; Sudden cardiac death; Ventricular arrhythmias; VENTRICULAR-FIBRILLATION; EARLY REPOLARIZATION; PHENOTYPE; MUTATION; RISK; ASSOCIATION; GENETICS; FEATURES; PROBANDS; PATTERN;
D O I
10.1016/j.ebiom.2022.104388
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background Brugada syndrome (BrS) is a severe inherited arrhythmia syndrome that can be unmasked by fever.Methods A multicentre clinical analysis was performed in 261 patients diagnosed with fever-induced BrS, including 198 (75.9%) and 27 (10.3%) patients who received next-generation genetic sequencing and epicardial arrhythmogenic substrate (AS) mapping, respectively.Findings In fever-induced BrS patients, pathogenic or likely pathogenic (P/LP) SCN5A variant carriers developed fever-induced BrS at a younger age, and more often in females and those of Caucasian descent. They exhibited significant electrophysical abnormalities, including a larger epicardial AS area, and more prolonged abnormal epicardial electrograms. During a median follow-up of 50.5 months (quartiles 32.5-81.5 months) after the diagnosis, major cardiac events (MCE) occurred in 27 (14.4%) patients. Patients with P/LP SCN5A variants had a higher ratio of MCE compared with the rest. Additionally, history of syncope, QRS duration, and Tpe interval could also predict an increased risk for future MCE according to univariate analysis. Multivariate analysis indicated that only P/LP SCN5A variants were independent significant predictors of MCE. Computational structural modelling showed that most variants are destabilizing, suggesting that Nav1.5 structure destabilization caused by SCN5A missense variants may contribute to fever-induced BrS.Interpretation In our cohort, P/LP SCN5A variant carriers with fever-induced BrS are more prevalent among patients of Caucasian descent, females, and younger patients. These patients exhibit aggressive electrophysiological abnormalities and worse outcome, which warrants closer monitoring and more urgent management of fever.
引用
收藏
页数:14
相关论文
共 50 条
  • [1] Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome
    Chen, Gan-Xiao
    Barajas-Martinez, Hector
    Ciconte, Giuseppe
    Wu, Cheng-, I
    Monasky, Michelle M.
    Xia, Hao
    Li, Bian
    Capra, John A.
    Guo, Kai
    Zhang, Zhong-He
    Chen, Xiu
    Yang, Bo
    Jiang, Hong
    Tse, Gary
    Mak, Chloe Miu
    Aizawa, Yoshiyasu
    Gollob, Michael H.
    Antzelevitch, Charles
    Wilde, Arthur A. M.
    Pappone, Carlo
    Hu, Dan
    EBIOMEDICINE, 2023, 87
  • [2] Clinical Features of Brugada Syndrome Patients With SCN5A Variants
    Okamura, Sho
    Ochi, Hidenori
    Nakashima, Mika
    Akiyama, Rie
    Tokuyama, Takehito
    Okubo, Yousaku
    Miyauchi, Shunsuke
    Miyamoto, Shogo
    Oguri, Naoto
    Uotani, Yukimi
    Sakai, Takumi
    Furutani, Motoki
    Kihara, Yasuki
    Nakano, Yukiko
    JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2025,
  • [3] Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants
    Monasky, Michelle M.
    Micaglio, Emanuele
    Vicedomini, Gabriele
    Locati, Emanuela T.
    Ciconte, Giuseppe
    Giannelli, Luigi
    Giordano, Federica
    Crisa, Simonetta
    Vecchi, Mattia
    Borrelli, Valeria
    Ghiroldi, Andrea
    D'Imperio, Sara
    Di Resta, Chiara
    Benedetti, Sara
    Ferrari, Maurizio
    Santinelli, Vincenzo
    Anastasia, Luigi
    Pappone, Carlo
    EUROPACE, 2019, 21 (10): : 1550 - 1558
  • [4] Fever-Induced Brugada Syndrome
    Manohar, Sandhya
    Dahal, Binaya Raman
    Gitler, Bernard
    JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS, 2015, 3 (01):
  • [5] A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation
    Keller, Dagmar I.
    Huang, Hai
    Zhao, Juan
    Frank, Rudolf
    Suarez, Vivian
    Delacretaz, Etienne
    Brink, Marijke
    Osswald, Stefan
    Schwick, Nicola
    Chahine, Mohamed
    CARDIOVASCULAR RESEARCH, 2006, 70 (03) : 521 - 529
  • [6] SCN5A gene mutations and clinical characteristics in patients with Brugada syndrome
    Itoh, H
    Shimizu, M
    Ino, H
    Yamaguchi, M
    Hayashi, K
    Mabuchi, H
    CIRCULATION, 2001, 104 (17) : 461 - 462
  • [7] FEVER-INDUCED BRUGADA SYNDROME
    Mulla, Sana
    Hanif, Muhammad
    Mustaqeem, Ruqqiya
    Thota, Vihitha
    Konduru, Sudheer
    Leonardi, Marino
    CHEST, 2021, 160 (04) : 204A - 204A
  • [8] Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan
    Juang, Jyh-Ming Jimmy
    Tsai, Chia-Ti
    Lin, Lian-Yu
    Liu, Yen-Bin
    Yu, Chih-Chieh
    Hwang, Juey-Jen
    Chen, Jien-Jiun
    Chiu, Fu-Chun
    Chen, Wen-Jone
    Tseng, Chuen-Den
    Chiang, Fu-Tien
    Yeh, Huei-Ming
    Yeh, Shih-Fan Sherri
    Lai, Ling-Ping
    Lin, Jiunn-Lee
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2015, 114 (07) : 620 - 626
  • [9] Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome
    Mikhailova, Valeria B.
    Karpushev, Alexey, V
    Vavilova, Viola D.
    Klimenko, Ekaterina S.
    Tulintseva, Tatyana
    Yudina, Yulia S.
    Vasichkina, Elena S.
    Zhorov, Boris S.
    Kostareva, Anna
    CARDIOLOGY, 2022, 147 (01) : 35 - 46
  • [10] SCN5A mutation in patients with Brugada electrocardiographic pattern induced by fever
    俞建华
    China Medical Abstracts(Internal Medicine), 2014, 31 (01) : 26 - 26