Brugada Syndrome in Women: What Do We Know After 30 Years?

Abstract

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 SCN5A 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.

Risk stratification of sudden cardiac death in asymptomatic female Brugada syndrome patients: A literature review

“…Nevertheless, most studies were typically based on male patients, while affected female received less attention, with less than 30% of literature till date highlighted gender difference. (Letsas et al, 2017; Martinez‐Barrios et al, 2022) Therefore, the aim of the present study is to summarize and evaluate the current tools in risk stratification among asymptomatic female BrS patients.…”

Cascade screening can be life-saving: a family with multiple cases of brugada syndrome and sudden cardiac death

“…The prevalence of BrS is 8-10 times higher in men than women. Furthermore, men experience arrhythmic events at earlier ages and have more severe phenotypes [9]. The effect of sex hormones and differences in the expression of cardiac transmembrane channels are supposed to be responsible for gender differences in BrS [1,10].…”

Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

“…To date, gender differences in BrS phenotype manifestation are widely recognized: female patients less frequently display a type 1 Brugada ECG pattern and exhibit lower inducibility rates. But the underlying causality remains unclear and needs to be further investigated [ 46 ]. Recently, a higher prevalence of pathogenic variants in SCN5A has been published in symptomatic female patients with BrS compared with male patients, and an even higher prevalence in females with BrS with arrhythmic events [ 47 ] suggesting that pathogenic variants in SCN5A in women may be a risk factor, perhaps by overcoming a “protective” environment [ 1 ].…”