Martínez-Barrios Estefanía, Arbelo Elena, Cesar Sergi, Cruzalegui José, Fiol Victoria, Díez-Escuté Nuria, Hernández Clara, Brugada Ramon, Brugada Josep, Campuzano Oscar, Sarquella-Brugada Georgia
Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Arrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
Front Cardiovasc Med. 2022 Apr 11;9:874992. doi: 10.3389/fcvm.2022.874992. eCollection 2022.
Brugada syndrome (BrS) was initially described in 1992 by Josep and Pedro Brugada as an arrhythmogenic disease characterized by ST segment elevation in the right precordial leads and increased risk of sudden cardiac death (SCD). Alterations in the gene are responsible for approximately 30% of cases of BrS, following an autosomal dominant pattern of inheritance. However, despite its autosomal transmission, sex-related differences are widely accepted. BrS is more prevalent in males than in females (8-10 times), with males having a 5.5-fold higher risk of SCD. There are also differences in clinical presentation, with females being more frequently asymptomatic and older than males at the time of diagnosis. Some factors have been identified that could explain these differences, among which testosterone seems to play an important role. However, only 30% of the available publications on the syndrome include sex-related information. Therefore, current findings on BrS are based on studies conducted mainly in male population, despite the wide acceptance of gender differences. The inclusion of complete clinical and demographic information in future publications would allow a better understanding of the phenotypic variability of BrS in different age and sex groups helping to improve the diagnosis, management and risk management of SCD.
1992年,何塞普和佩德罗·布加迪首次将布加迪综合征(BrS)描述为一种致心律失常性疾病,其特征为右胸前导联ST段抬高以及心脏性猝死(SCD)风险增加。该基因的改变导致约30%的BrS病例,遵循常染色体显性遗传模式。然而,尽管其为常染色体遗传,但性别相关差异已被广泛认可。BrS在男性中比在女性中更普遍(8至10倍),男性发生SCD的风险高5.5倍。临床表现也存在差异,女性在诊断时更常无症状且年龄比男性大。已确定一些因素可解释这些差异,其中睾酮似乎起重要作用。然而,关于该综合征的现有出版物中只有30%包含性别相关信息。因此,尽管性别差异已被广泛认可,但目前关于BrS的研究结果主要基于对男性人群的研究。在未来的出版物中纳入完整的临床和人口统计学信息将有助于更好地理解BrS在不同年龄和性别组中的表型变异性,从而有助于改善SCD的诊断、管理和风险管理。