Clinical approach to the patient with Brugada Syndrome: risk stratification and optimal management

2020 ◽  
Vol 61 (4) ◽  
Author(s):  
Milan M. Marinković ◽  
Nebojša M. Mujović ◽  
Tatjana S. Potpara
2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.


2017 ◽  
Vol 40 (12) ◽  
pp. 1332-1345 ◽  
Author(s):  
Konstantinos P. Letsas ◽  
Dimitrios Asvestas ◽  
Adrian Baranchuk ◽  
Tong Liu ◽  
Stamatis Georgopoulos ◽  
...  

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
J Brito ◽  
N Cortez-Dias ◽  
N Nunes-Ferreira ◽  
I Aguiar-Ricardo ◽  
G Silva ◽  
...  

Abstract Introduction The sudden cardiac death risk in Brugada Syndrome (BrS) is higher in patients with spontaneous type 1 pattern. Brugada diagnosis is also established in patients with induced type 1 morphology after provocative test with intravenous administration with a sodium blocker channel. Nevertheless, this group of patients is known to be at a lower risk of SCD, and their risk stratification is still a matter of discussion.  Late potentials (LP) detected on signal-averaged ECG (SAECG) on the RVOT have been previously proposed as a predictor factor for BrS, even though data is lacking on its value. Purpose To evaluate the association between positive LP (LMS40> 38ms) on SAECG with modified Brugada leads and a positive flecainide test in patients with non-type 1 BrS. Methods Retrospective single-center study of non-type 1 BrS patients referred for the performance of a flecainide provocative test. Patients presenting with spontaneous type 1 morphology were excluded from the study. Study of LP on SAECG with modified leads for Brugada were evaluated before administration of flecainide [2mg/kg (maximum150mg), for 10minutes] with determination of filtered QRS duration (fQRS), root mean square voltage of the last 40ms of the QRS complex (RMS40) and duration of low amplitude signals <40μV of the terminal QRS complex (LMS40). Results 126 patients (47.3 ± 14.1 years, 61.9% males) underwent study with LP SAECG and flecainide test. Among these patients, 7.9% were symptomatic and 16.7% had familiar history of BrS. Flecainide test was positive in 46.8% of patients. In patients with a positive flecainide test, 64.4% presented LMS40 > 38ms whereas LMS40 > 38ms was present in only 46% of those with a negative flecainide test (p = 0.031). The presence of positive LMS40 was a positive predictor for a positive flecainide test, associated with a two-fold increase likelihood in the induction of a Brugada pattern (OR: 2,12; IC95% 1,025-4,392; P = 0,043). There was no association between fQRS or RMS40 and a positive flecainide test (p = NS). fQRS > 114ms and RMS40 <20uV was present in 22% and 61% of patients with a positive flecainide test, respectively. Conclusion In patient with non-type 1 Brugada syndrome, LMS40 > 38ms in SAECG was a predictor for a positive flecainide test, suggesting that this finding could be helpful on the risk stratification of patients undergoing diagnostic study for Brugada syndrome. Abstract Figure. Effect of LMS 40 in flecainide test


Heart Rhythm ◽  
2013 ◽  
Vol 10 (7) ◽  
pp. 1019-1020 ◽  
Author(s):  
Sami Viskin ◽  
Arnon Adler ◽  
Raphael Rosso

2019 ◽  
Vol 10 ◽  
Author(s):  
Yihan Yang ◽  
Dan Hu ◽  
Frederic Sacher ◽  
Kengo F. Kusano ◽  
Xinye Li ◽  
...  

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