SCN5A 突变与 1 型 Brugada 心电图患者较高的上海评分相关。
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
发表日期：2023 Oct 31
作者：
Laura Tonelli, Cristina Balla, Marianna Farnè, Alice Margutti, Eugenia Tiziana Maniscalchi, Gaetano De Feo, Assunta Di Domenico, Martina De Raffele, Antonio Percesepe, Vera Uliana, Valeria Barili, Walter Serra, Biagio Sassone, Santo Virzì, Elia De Maria, Giulia Parmeggiani, Gabriele Egidy Assenza, Elena Biagini, Vanda Parisi, Mauro Biffi, Valeria Carinci, Enrica Perugini, Paola Imbrici, Alessandra Ferlini, Matteo Bertini, Rita Selvatici, Francesca Gualandi
来源：
MEDICINE & SCIENCE IN SPORTS & EXERCISE
摘要：
Brugada 综合征 (BrS) 是一种遗传性心律失常疾病，其特征是右侧心前导联 ST 段抬高（1 型心电图模式），与恶性室性心律失常和心源性猝死的风险相关。为了评估上海评分系统对临床实践中 SCN5A 突变存在的预测价值，我们研究了 125 名患有自发性或发烧/药物诱发 BrS 1 型心电图模式的患者队列，这些患者与症状和症状存在不同的相关性。阳性家族史。收集每位患者的上海评分系统项目，并测量PR和QRS波群间隔。通过下一代测序 (NGS) 定制面板对患者进行基因分型，以确定是否存在 SCN5A 突变和常见的 SCN5A 多态性 (H558R)。SCN5A 患者的上海总分高于 SCN5A- 患者。 81% 的 SCN5A 患者和 100% 的 SCN5A 截短变异患者表现出自发的 1 型心电图模式。 SCN5A 组的 PR (P = 0.006) 和 QRS (P = 0.02) 显着增加。常见的 H558R 多态性的存在与 Shanghai Score 的任何项目以及系统的总分均没有显着相关性。我们研究的数据表明了 Shanghai Score 收集在临床实践中的有用性，以最大限度地提高基因检测的效果适当性。我们的数据进一步强调 SCN5A 突变是 BrS 患者传导障碍的一个原因。版权所有 © 2023 意大利心脏病联合会 - I.F.C.版权所有。
Brugada syndrome (BrS) is an inherited arrhythmic disease characterized by a coved ST-segment elevation in the right precordial electrocardiogram leads (type 1 ECG pattern) and is associated with a risk of malignant ventricular arrhythmias and sudden cardiac death. In order to assess the predictive value of the Shanghai Score System for the presence of a SCN5A mutation in clinical practice, we studied a cohort of 125 patients with spontaneous or fever/drug-induced BrS type 1 ECG pattern, variably associated with symptoms and a positive family history.The Shanghai Score System items were collected for each patient and PR and QRS complex intervals were measured. Patients were genotyped through a next-generation sequencing (NGS) custom panel for the presence of SCN5A mutations and the common SCN5A polymorphism (H558R).The total Shanghai Score was higher in SCN5A+ patients than in SCN5A- patients. The 81% of SCN5A+ patients and the 100% of patients with a SCN5A truncating variant exhibit a spontaneous type 1 ECG pattern. A significant increase in PR (P = 0.006) and QRS (P = 0.02) was detected in the SCN5A+ group. The presence of the common H558R polymorphism did not significantly correlate with any of the items of the Shanghai Score, nor with the total score of the system.Data from our study suggest the usefulness of Shanghai Score collection in clinical practice in order to maximize genetic test appropriateness. Our data further highlight SCN5A mutations as a cause of conduction impairment in BrS patients.Copyright © 2023 Italian Federation of Cardiology - I.F.C. All rights reserved.