[1]简易 李耀东.Brugada综合征诊断、遗传学及风险分层的研究进展[J].心血管病学进展,2024,(6):519.[doi:10.16806/j.cnki.issn.1004-3934.2024.06.010]
　JIAN Yi,LI Yaodong.Diagnosis,Genetics and Risk Stratification of Brugada Syndrome[J].Advances in Cardiovascular Diseases,2024,(6):519.[doi:10.16806/j.cnki.issn.1004-3934.2024.06.010]
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Brugada综合征诊断、遗传学及风险分层的研究进展()
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《心血管病学进展》[ISSN:51-1187/R/CN:1004-3934]

卷:
期数:
2024年6期
页码:
519
栏目:
综述
出版日期:
2024-06-25

文章信息/Info

Title:
Diagnosis,Genetics and Risk Stratification of Brugada Syndrome
作者:
简易 李耀东
(新疆医科大学第一附属医院心脏中心起搏电生理科 新疆心电生理与心脏重塑重点实验室,新疆 乌鲁木齐 830054)
Author(s):
JIAN Yi; LI Yaodong
(Department of Pacing and Electrophysiology,Department of Cardiac Electrophysiology and Remodeling,The First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054, Xinjiang,China)
关键词:
Brugada综合征; 遗传学; 风险分层
Keywords:
Brugada syndrome; Genetics; Risk stratification
DOI:
10.16806/j.cnki.issn.1004-3934.2024.06.010
摘要:
Brugada综合征（BrS）是一种严重的遗传性恶性心律失常病，临床特征多表现患者发生多形性室性心动过速和心室颤动，引起患者晕厥甚至导致猝死。作为一种遗传性心脏病，BrS具有广泛的遗传异质性，其同时还受到年龄、性别、家族史等的影响，导致目前尚无统一的标准来判断患者的疾病状态及预后结局。对BrS患者进行风险分层仍具有挑战性，大量研究表明风险评分不仅在识别患者心律失常和心源性猝死方面具有一定的作用，而且综合评分中包含临床症状、遗传、合并症、年龄及性别等因素可能有助于患者的风险分层，并指导患者个体化治疗。现就目前BrS诊断、遗传学及风险分层做简要综述。
Abstract:
Brugada syndrome(BrS) is a severe hereditary malignant arrhythmia with multiple clinical manifestations of pleomorphic ventricular tachycardia and ventricular fibrillation,causing syncope and even sudden death. As a hereditary heart disease,BrS has extensive genetic heterogeneityand is also affected by age,gender,family history,etc. As a result,there is currently no unified standard to judge the patient’s disease status and prognosis .Risk stratification of patients with BrS remains challenging. Numerous studies have shown that risk scores not only play a role in identifying patients with arrhythmia and sudden cardiac death,but also include factors such as clinical symptoms,heredity,comorbidity,age and gender in the comprehensive score,which may help stratify patients’ risk and guide patient individualized treatment. Here is a brief review of the current diagnosis,genetics and risk stratification of BrS

参考文献/References:

[1] Rodríguez-Ma?ero M,Baluja A,Hernández J,et al. Validation of multiparametric approaches for the prediction of sudden cardiac death in patients with Brugada syndrome and electrophysiological study[J]. Rev Esp Cardiol(Engl Ed),2022,75(7):559-567.

[2] Coppola G,Corrado E,Curnis A,et al. Update on Brugada syndrome 2019[J]. Curr Probl Cardiol,2021,46(3):100454.

[3] Li KHC,Lee S,Yin C,et al. Brugada syndrome:a comprehensive review of pathophysiological mechanisms and risk stratification strategies[J]. Int J Cardiol Heart Vasc,2020,26:100468.

[4] Marinkovi? MM,Mujovi? NM,Potpara TS. Clinical approach to the patient with Brugada syndrome:risk stratification and optimal management[J]. Panminerva Med,2019,61(4):473-485.

[5] Coppola G,Dendramis G,Corrado E,et al. Measles and Brugada pattern:a case report[J]. Int J Cardiol,2013,165(3):e41-e42.

[6] Delise P,Probst V,Allocca G,et al. Clinical outcome of patients with the Brugada type 1 electrocardiogram without prophylactic implantable cardioverter defibrillator in primary prevention:a cumulative analysis of seven large prospective studies[J]. Europace,2018,20(FI1):f77-f85.

[7] Popa IP,?erban DN ,M?r?nduc? MA,et al. Brugada syndrome:from molecular mechanisms and genetics to risk stratification[J]. Int J Mol Sci,2023,24(4):3328.

[8] Sieira J,Conte G,Ciconte G,et al. Prognostic value of programmed electrical stimulation in Brugada syndrome:20 years experience[J]. Circ Arrhythm Electrophysiol,2015,8(4):777-784.

[9] Al-Khatib SM,Stevenson WG,Ackerman MJ,et al.2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death:A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society[J]. Heart Rhythm,2018,15(10):e73-e189.

[10] Delise P. Risk stratification in Brugada syndrome:the challenge of the grey zone[J]. Eur Heart J,2021,42(17):1696-1697.

[11] Iqbal M,Putra ICS,Pranata R,et al. Electrocardiographic markers indicating right ventricular outflow tract conduction delay as a predictor of major arrhythmic events in patients with Brugada syndrome:a systematic review and meta-analysis[J]. Front Cardiovasc Med,2022,9:931622.

[12] Sieira J,Ciconte G,Conte G,et al. Asymptomatic Brugada syndrome:clinical characterization and long-term prognosis[J]. Circ Arrhythm Electrophysiol,2015,8(5):1144-1150.

[13] Marsman EMJ,Postema PG,Remme CA. Brugada syndrome:update and future perspectives[J]. Heart,2022,108(9):668-675.

[14] Zakka P,Refaat MM. Sudden cardiac arrest and Brugada syndrome:the search is on for better risk stratification[J]. Pacing Clin Electrophysiol,2019,42(2):265-266.

[15] Leong KMW,Ng FS,Jones S,et al. Prevalence of spontaneous type I ECG pattern,syncope,and other risk markers in sudden cardiac arrest survivors with Brugada syndrome[J]. Pacing Clin Electrophysiol,2019,42(2):257-264.

[16] Probst V,Goronflot T,Anys S,et al. Robustness and relevance of predictive score in sudden cardiac death for patients with Brugada syndrome[J]. Eur Heart J,2021,42(17):1687-1695.

[17] Milman A,Andorin A,Gourraud JB,et al. Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event:data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS) [J]. Heart Rhythm,2018,15(5):716-724.

[18] Rattanawong P,Kewcharoen J,Yinadsawaphan T,et al. Type of syncope and outcome in Brugada syndrome:a systematic review and meta-analysis[J]. J Arrhythm,2023,39(2):111-120.

[19] Nagase S,Hiramatsu S,Morita H,et al. Electroanatomical correlation of repolarization abnormalities in Brugada syndrome:detection of type 1 electrocardiogram in the right ventricular outflow tract[J]. J Am Coll Cardiol,2010,56(25):2143-2145.

[20] Nagase S,Kamakura T,Kataoka N,et al. Low-voltage type 1 ECG is associated with fatal ventricular tachyarrhythmia in Brugada syndrome[J]. J Am Heart Assoc,2018,7(21):e009713.

[21] Probst V,Veltmann C,Eckardt L,et al. Long-term prognosis of patients diagnosed with Brugada syndrome:results from the FINGER Brugada syndrome registry[J]. Circulation,2010,121(5):635-643.

[22] Nagase S,Kusano KF,Morita H,et al. Epicardial electrogram of the right ventricular outflow tract in patients with the Brugada syndrome:using the epicardial lead[J]. J Am Coll Cardiol,2002,39(12):1992-1995.

[23] Sacher F,Jesel L,Jais P,et al. Insight into the mechanism of Brugada syndrome:epicardial substrate and modification during ajmaline testing[J]. Heart Rhythm,2014,11(4):732-734.

[24] Nademanee K,Veerakul G,Chandanamattha P,et al. Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium[J].Circulation,2011,123(12):1270-1279.

[25] Szél T,Antzelevitch C. Abnormal repolarization as the basis for late potentials and fractionated electrograms recorded from epicardium in experimental models of Brugada syndrome[J]. J Am Coll Cardiol,2014,63(19):2037-2045.

[26] Huang Z,Patel C,Li W,et al. Role of signal-averaged electrocardiograms in arrhythmic risk stratification of patients with Brugada syndrome:a prospective study[J]. Heart Rhythm,2009,6(8):1156-1162.

[27] Achmad C,Kamarullah W,Putra ICS,et al. Investigation of high-risk electrocardiographic markers as predictors of major arrhythmic events in Brugada syndrome:a systematic review and meta-analysis[J]. Curr Probl Cardio l,2023,48(8):101727.

[28] Tokioka K,Kusano KF,Morita H,et al. Electrocardiographic parameters and fatal arrhythmic events in patients with Brugada syndrome:combination of depolarization and repolarization abnormalities[J]. J Am Coll Cardiol,2014,63(20):2131-2138.

[29] Letsas KP,Bazoukis G,Efremidis M,et al. Clinical characteristics and long-term clinical course of patients with Brugada syndrome without previous cardiac arrest:a multiparametric risk stratification approach[J]. Europace,2019,21(12):1911-1918.

[30] Vitali F,Brieda A,Balla C,et al. Standard ECG in Brugada syndrome as a marker of prognosis:from risk stratification to pathophysiological insights[J]. J Am Heart Assoc,2021,10(10):e020767.

[31] Meregalli PG,Tan HL,Probst V,et al.Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies[J]. Heart Rhythm,2009,6(3):341-348.

[32] Ishikawa T,Kimoto H,Mishima H,et al. Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome[J]. Eur Heart J,2021,42(29):2854-2863.

[33] Sommariva E,Pappone C,Martinelli Boneschi F,et al. Genetics can contribute to the prognosis of Brugada syndrome:a pilot model for risk stratification[J]. Eur J Hum Genet,2013,21(9):911-917.

[34] Kamakura S,Ohe T,Nakazawa K,et al. Long-term prognosis of probands with Brugada-pattern ST-elevation in leads V1-V3[J]. Circ Arrhythm Electrophysiol,2009,2(5):495-503.

[35] Delise P,Allocca G,Marras E,et al. Risk stratification in individuals with the Brugada type 1 ECG pattern without previous cardiac arrest:usefulness of a combined clinical and electrophysiologic approach[J]. Eur Heart J,2011,32(2):169-176.

[36] Sieira J,Conte G,Ciconte G,et al. A score model to predict risk of events in patients with Brugada Syndrome[J]. Eur Heart J,2017,38(22):1756-1763.

[37] Eckardt L.Brugada-Syndrom:Risikostratifikation und Pr?vention des?pl?tzlichen Herztods[Brugada syndrome:risk stratification and prevention of sudden cardiac death][J]. Herzschrittmacherther Elektrophysiol,2020,31(1):39-47.

[38] Giustetto C,Cerrato N,Gribaudo E,et al. Atrial fibrillation in a large population with Brugada electrocardiographic pattern:prevalence,management,and correlation with prognosis[J]. Heart Rhythm,2014,11(2):259-265.

[39] Al-Azaam B,Darbar D. Atrial fibrillation in inherited channelopathies[J]. Card Electrophysiol Clin,2021,13(1):155-163.

[40] Bayrak F,Brugada P. Recent status in Brugada syndrome[J]. Turk Kardiyol Dern Ars,2022,50(2):137-144.

[41] Kusano KF,Taniyama M,Nakamura K,et al. Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation,electrophysiology,and clinical backgrounds[J]. J Am Coll Cardiol,2008,51(12):1169-1175.

[42] Iop L,Iliceto S,Civieri G,et al. Inherited and acquired rhythm disturbances in sick sinus Syndrome,Brugada syndrome,and atrial fibrillation:lessons from preclinical modeling[J]. Cells,2021,10(11):3175.

[43] Brugada J,Brugada R,Brugada P. Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest[J]. Circulation,2003,108(25):3092-3096.

[44] Sroubek J,Probst V,Mazzanti A,et al. Programmed ventricular stimulation for risk stratification in the Brugada syndrome:a pooled analysis[J]. Circulation,2016,133(7):622-630.

[45] Lee S,Zhou J,Chung CT,et al. Comparing the performance of published risk scores in Brugada syndrome:a multi-center cohort study[J]. Curr Probl Cardiol,2022,47(12):101381.

[46] Wei HT,Liu W,Ma YR,et al. Performance of multiparametric models in patients with Brugada syndrome:a systematic review and meta-analysis[J]. Front Cardiovasc Med,2022,9:859771.

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更新日期/Last Update: 2024-07-26