Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome.

IF 8.3 2区材料科学 Q1 MATERIALS SCIENCE, MULTIDISCIPLINARY

ACS Applied Materials & Interfaces Pub Date : 2024-11-02 DOI:10.1016/j.hrthm.2024.10.057

Fenna Tuijnenburg, Virginnio M Proost, Aurélie Thollet, Julien Barc, Alexander J A Groffen, Christiaan C Veerman, Saskia N van der Crabben, Vincent R van der Pas, Florence Kyndt, Sean J Jurgens, Michael W T Tanck, Pieter G Postema, J Peter van Tintelen, Connie R Bezzina, Vincent Probst, Arthur A M Wilde, Jean-Baptiste Gourraud, Ahmad S Amin

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引用次数: 0

Abstract

Background: The long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown.

Objective: This study aimed to evaluate the long-term arrhythmic risk in patients with an SCN5A loss-of-function variant to identify predictors of arrhythmic events.

Methods: Probands and family members with (likely) pathogenic SCN5A loss-of-function variants were retrospectively included. Clinical and electrocardiographic data at baseline and last follow-up were collected. Patients with a history of cardiac arrest, sustained ventricular tachycardia, symptomatic or documented atrial tachy- or bradyarrhythmia, or arrhythmogenic syncope were categorized as symptomatic. Arrhythmic events at follow-up were defined as sudden death, aborted cardiac arrest, documented ventricular fibrillation, and/or sustained ventricular tachycardia.

Results: We included 615 patients (349 men, 242 probands, 157 with a spontaneous type 1 Brugada electrocardiogram, and 111 symptomatic at baseline). During a median follow-up of 9.5 (Q1-Q3 5.0-14.3) years, arrhythmic events occurred in 41 patients (6.7%), equating an overall event rate of 0.7%/y: 2.0%/y in symptomatic and 0.3%/y in asymptomatic patients. In the overall study population, symptoms at baseline, male sex, and QRS prolongation were identified as independent predictors of arrhythmic events. In asymptomatic patients, male sex and QRS prolongation were also identified as predictors. Asymptomatic women with QRS interval < 100 ms did not experience arrhythmic events at follow-up.

Conclusion: Key predictors of arrhythmic risk in patients with an SCN5A loss-of-function variant, regardless of a Brugada syndrome diagnosis, are symptoms at baseline, male sex, and prolonged QRS. Our findings may enable more tailored management strategies in patients with an SCN5A loss-of-function variant based on their individual risk profiles.

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SCN5A 功能缺失变异和进行性心脏传导障碍或 Brugada 综合征患者的长期预后。

背景：心脏钠通道基因 SCN5A 功能缺失变异患者的长期预后不明：心脏钠通道基因SCN5A功能缺失变异患者的长期预后尚不清楚：本研究旨在评估 SCN5A 功能缺失变异患者的长期心律失常风险，以确定心律失常事件的预测因素：方法：回顾性纳入（可能）致病性 SCN5A 功能缺失变异的原发性和家族成员。收集基线和最后一次随访时的临床和心电图数据。有心脏骤停、持续室性心动过速、有症状或有记录的房性心动过速或过缓、致心律失常性晕厥病史的患者被归类为有症状的患者。随访期间的心律失常事件定义为猝死、心脏骤停中止、有记录的心室颤动和/或持续室速：我们共纳入了 615 名患者（349 名男性，242 名疑似患者，157 名自发 1 型 Brugada-ECG 患者，111 名基线时无症状患者）。在9.5（5.0-14.3）年的随访期间，41名患者（6.7%）发生了心律失常事件，相当于总事件发生率为0.7%/年；有症状患者为2.0%/年，无症状患者为0.3%/年。在所有研究人群中，基线症状、男性和 QRS 间期延长被认为是心律失常事件的独立预测因素。在无症状的患者中，男性和 QRS 间期延长也是预测因素。无症状女性的 QRS无论是否确诊为 Brugada 综合征，SCN5A 功能缺失变异患者心律失常风险的主要预测因素是基线症状、男性和 QRS 延长。我们的研究结果可根据 SCN5A 功能缺失变异患者的个体风险特征，为其制定更有针对性的管理策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Materials & Interfaces 工程技术-材料科学：综合

CiteScore

16.00

自引率

6.30%

发文量

4978

审稿时长

1.8 months

期刊介绍： ACS Applied Materials & Interfaces is a leading interdisciplinary journal that brings together chemists, engineers, physicists, and biologists to explore the development and utilization of newly-discovered materials and interfacial processes for specific applications. Our journal has experienced remarkable growth since its establishment in 2009, both in terms of the number of articles published and the impact of the research showcased. We are proud to foster a truly global community, with the majority of published articles originating from outside the United States, reflecting the rapid growth of applied research worldwide.