Clinical presentation and follow-up of women affected by Brugada syndrome

Berthome, P.; Tixier, Romain; Briand, Jean Paul; Geoffroy, Olivier; Babuty, Dominique; Mansourati, Jacques; Jesel, Laurence; Dupuis, Jean‐Marc; Bru, Paul; Kyndt, Florence; Guyomarch, Béatrice; Thollet, Aurélie; Béhar, Nathalie; Mabo, Philippe; Sacher, Frédéric; Probst, Vincent; Gourraud, Jean‐Baptiste

doi:10.1016/j.hrthm.2018.08.032

Cited by 26 publications

(34 citation statements)

References 19 publications

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“…As already described above for chest pain, this is partly due to the wrong perception that women are “protected” from CVD and partly to the often atypical clinical presentation of the disease in women. In fact, women with Brugada Syndrome are more frequently asymptomatic and less frequently presenting a spontaneous ECG pattern, compared to men [80]. Unfortunately, despite diabetic women having a high prevalence of preclinical atherosclerosis, the utility of noninvasive screening in women is even more limited, because of a lower sensibility of their men’s counterpart [81].…”

Section: Non-invasive Assessment and Biomarkers Of Coronary Arterymentioning

confidence: 99%

Impact of Sex Differences and Diabetes on Coronary Atherosclerosis and Ischemic Heart Disease

Madonna

Balistreri

Rosa

et al. 2019

JCM

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Cardiovascular diseases (CVD) including coronary artery disease (CAD) and ischemic heart disease (IHD) are the main cause of mortality in industrialized countries. Although it is well known that there is a difference in the risk of these diseases in women and men, current therapy does not consider the sexual dimorphism; i.e., differences in anatomical structures and metabolism of tissues. Here, we discuss how genetic, epigenetic, hormonal, cellular or molecular factors may explain the different CVD risk, especially in high-risk groups such as women with diabetes. We analyze whether sex may modify the effects of diabetes at risk of CAD. Finally, we discuss current diagnostic techniques in the evaluation of CAD and IHD in diabetic women.

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Section: Non-invasive Assessment and Biomarkers Of Coronary Arterymentioning

confidence: 99%

Impact of Sex Differences and Diabetes on Coronary Atherosclerosis and Ischemic Heart Disease

Madonna

Balistreri

Rosa

et al. 2019

JCM

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“…Thereinto, BrS is a rare heritable arrhythmia syndrome which is characterized by a coved‐type ST‐segment elevation in the right precordial leads on electrocardiogram (ECG), it has been suggested that Brugada syndrome increased the risk of sudden cardiac death (SCD) . Most BrS patients are males, who have a higher risk of arrhythmic events than females . While more than 20 BrS‐associated genes have been identified, only SCN5A has sufficient genetic evidence suggesting that it is a genetic cause of disease, accounting for 20%‐25% of BrS cases, Despite these advances, genetic testing is still not recommended for BrS risk stratification .…”

Section: Introductionmentioning

confidence: 99%

Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta‐analysis

et al. 2019

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Whether the presence of SCN5A mutation is a predictor of BrS risk remains controversial, and patient selection bias may have weakened previous findings. Therefore, we performed this study to clarify the clinical characteristics and outcomes of BrS probands with SCN5A mutations. We systematically retrieved eligible studies published through October 2018. A total of 17 studies enrolling 1780 BrS patients were included. Overall, our results found that compared with BrS patients without SCN5A mutations, patients with SCN5A mutations exhibited a younger age at the onset of symptoms and higher rate of the spontaneous type-1 electrocardiogram pattern, more pronounced conduction or repolarization abnormalities, and increased atrial vulnerability. In addition, the presence of SCN5A mutations was associated with an elevated risk of major arrhythmic events in both Asian (odds ratio [OR] = 1.82, 95% confidence interval [CI] 1.07-3.11; P = .03) and Caucasian (OR = 2.24, 95% CI 1.02-4.90; P = .04) populations. In conclusions, patients with SCN5A mutations exhibit more pronounced electrophysiological defects and more severe prognosis.Clinicians should be cautious when utilizing genetic testing for risk stratification or treatment guidance before determining whether the causal relationship regarding SCN5A mutation status is an independent predictor of risk.

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“…16,38 Of note is that these gender-specific observations are only relevant for adults (≥18 years), with no significant difference in phenotypic presentation in children. 41,42 Genotype and Prognosis 4,43 It is clear that the genetic basis for Brugada syndrome is heterogenous and no pathogenic genotype can be currently identified in the majority of patients. 12 Moreover, while numerous mutations in several other myocardial genes have also been suggested there is insufficient evidence to establish their unequivocal causality in the pathogenesis of Brugada syndrome.…”

Section: Gender-specific Riskmentioning

confidence: 99%