scholarly journals Insights for Stratification of Risk in Brugada Syndrome

2019 ◽  
Vol 14 (1) ◽  
pp. 45-49 ◽  
Author(s):  
Daniel García Iglesias ◽  
José Rubín ◽  
Diego Pérez ◽  
César Morís ◽  
David Calvo
Keyword(s):  
Risk Stratification ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Scientific Community ◽  
Genetic Disorders ◽  
Inherited Disease ◽  
Future Directions ◽  
Patient Protection ◽  
Several Variables ◽  
Increased Risk

Brugada syndrome (BrS) is an inherited disease with an increased risk of sudden cardiac death (SCD). However, testing identifies genetic disorders in only 20–30% of patients analysed, indicating a gap in knowledge of its genetic aetiology. Diagnosis relies on ECG, and risk stratification in BrS patients is challenging, primarily because of the complexity of the issue. As a result, clinicians fail to provide the appropriate strategy for SCD prevention for many patients. Several variables and interventions are being studied to improve diagnostics and maximise patient protection. In addition, the scientific community must increase efforts to provide patient care according to knowledge and research for improving stratification of risk. In this article, the authors summarise contemporary evidence on clinical variables and provide an overview of future directions in risk stratification and SCD prevention.

scholarly journals Risk Stratification in Brugada Syndrome: Current Status and Emerging Approaches

2018 ◽  
Vol 7 (2) ◽  
pp. 79 ◽  
Author(s):  
Shohreh Honarbakhsh ◽  
Rui Providencia ◽  
Pier D Lambiase ◽  
◽  
◽  
...  
Keyword(s):  
High Risk ◽  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Right Ventricular Outflow Tract ◽  
Current Status ◽  
Drug Induced ◽  
Increased Risk

Brugada syndrome (BrS) is one of the most common inherited channelopathies associated with an increased risk of sudden cardiac death. Appropriate use of an ICD in high-risk patients is life-saving. However, there remains a lack of consensus on risk stratification, and even on the diagnosis of BrS itself. Some argue that people with a type 1 Brugada ECG pattern but no symptoms should not be diagnosed with BrS, and guidelines recommend observation without therapy in these patients. Others argue that the presence of a spontaneous (rather than drug-induced) type 1 ECG pattern alone is enough to label them as high-risk for arrhythmic events, particularly if syncope is also present. Syncope and a spontaneous type 1 ECG pattern are the only factors that have consistently been shown to predict ventricular arrhythmic events and sudden cardiac death. Other markers have yielded conflicting data. However, in combination they may have roles in risk scoring models. Epicardial catheter ablation in the right ventricular outflow tract has shown promise in studies as an alternative management option to an ICD, but longer follow-up is required to ensure that the ablation effect is permanent.

scholarly journals Risk-Stratification Strategy for Sudden Cardiac Death in the Very Young Children with Asymptomatic Ventricular Preexcitation

2020 ◽  
Vol 16 (2) ◽  
pp. 83-89
Author(s):  
Moises Rodriguez-Gonzalez ◽  
Ana Castellano-Martinez ◽  
Alvaro A. Perez-Reviriego
Keyword(s):  
Catheter Ablation ◽  
Sudden Cardiac Death ◽  
Young Children ◽  
Risk Stratification ◽  
Cardiac Death ◽  
Absolute Risk ◽  
Definitive Treatment ◽  
Initial Symptom ◽  
Asymptomatic Children ◽  
Increased Risk

Asymptomatic VPE refers to the presence of this abnormal ECG pattern in the absence of any symptoms. The natural history in these patients is usually benign, and most children (60%) with VPE are usually asymptomatic. However, Sudden Cardiac Death (SCD) has been reported to be the initial symptom in many patients too. The increased risk of SCD is thought to be due to the rapid conduction of atrial arrhythmias to the ventricle, via the AP, which degenerates into Ventricular Fibrillation (VF). The best method to identify high-risk patients with asymptomatic VPE for SCD is the characterization of the electrophysiological properties of the AP through an Electrophysiological Study (EPS). Also, catheter ablation of the AP with radiofrequency as definitive treatment to avoid SCD can be performed by the same procedure with high rates of success. However, the uncertainty over the absolute risk of SCD, the poor positive predictive value of an invasive EPS, and complications associated with catheter ablation have made the management of asymptomatic VPE challenging, even more in those children younger than 8-year-old, where there are no clear recommendations. This review provides an overview of the different methods to make the risk stratification for SCD in asymptomatic children with, as well as our viewpoint on the adequate approach to those young children not included in current guidelines.

scholarly journals 217 Why it is important to recognize Brugada syndrome in athletes: a case report

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Lidia Colangelo ◽  
Maria Colangelo ◽  
Luca Stefanini
Keyword(s):  
High Risk ◽  
Sudden Cardiac Death ◽  
Effective Treatment ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Recovery Period ◽  
Young Athletes ◽  
Case Presentation ◽  
Timely Diagnosis ◽  
Increased Risk

Abstract Aims The Brugada syndrome (Brs) is an inherited disorder associated with risk of ventricular fibrillation and sudden cardiac death in a structurally normal heart. The purpose of this case presentation was to spread awareness about this condition, highlight the importance of timely diagnosis and effective treatment of this channelopathy especially in asymptomatic young athletes at high risk of sudden cardiac death. Methods and results In this report, we discuss the case of a 47-year-old male. He was a tennis player who performed a visit to the sports doctor to have issued a certificate for competitive fitness. He had no familiar history of sudden death or syncope. The patient’s electrocardiogram (ECG) revealed J-point elevation and ST-segment elevation in the right precordial leads V1 and V2 positioned in the second, third, or fourth intercostal space, showing classic type II ‘saddleback’ morphology in V2 and BrS was suspected. Hence, the patient underwent Holter ECG monitoring with evidence of spontaneous type 1 Brugada pattern (‘coved’ morphology), as well as frequent ventricular ectopic beats with left branch block morphology. Indeed, a diagnosis of BrS was made. Antiarrhythmic prophylaxis therapy with hydroquinidine was initiated and the patient was suspended from competitive activity with a 3-month follow-up. Conclusions The BrS is a hereditary disease characterized by a typical ECG pattern potentially predisposing active individuals with no patent structural heart disease to ventricular arrhythmias (VA) and sudden cardiac death (SCD). Nowadays, it is difficult to discern the true burden of BrS due to the unknown real prevalence of asymptomatic patients and the dynamic variability of the ECG pattern in individuals. The purpose of this case presentation was to spread awareness about this condition, highlight the importance of timely diagnosis, and effective treatment of this channelopathy especially in asymptomatic young athletes at high risk of SCD. Indeed, exercise may potentially worsen the ECG abnormalities in BrS patients, resulting in higher peak J-point amplitudes during the vasovagal reaction of the recovery period, possibly leading to an increased risk of cardiac events. Moreover, the enhanced vagal tone in athletes could be both a BrS risk factor and an exercise effect. For this reason, athletic pre-participation screening is essential for minimizing the risk for SCD in athletes participating in either competitive or leisure sporting activities.

scholarly journals Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

2019 ◽  
Vol 20 (19) ◽  
pp. 4920 ◽  
Author(s):  
Emanuele Micaglio ◽  
Michelle Monasky ◽  
Nicoletta Resta ◽  
Rosanna Bagnulo ◽  
Giuseppe Ciconte ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Cardiac Death ◽  
St Segment Elevation ◽  
Functional Studies ◽  
St Segment ◽  
Increased Risk ◽  
Heterozygous Variant ◽  
Number Of Genes ◽  
Molecular Effects ◽  
Scn5a Gene

Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the SCN5A gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of the cases, with the remaining cases being attributed to variants in any of a number of genes. Before research models can be developed, it is imperative to understand the genetics in patients. Even data from humans is complicated, since variants in the most common gene in BrS, SCN5A, are associated with a number of pathologies, or could even be considered benign, depending on the variant. Here, we provide crucial human data on a novel NM_198056.2:c.2091G>A (p.Trp697X) point-nonsense heterozygous variant in the SCN5A gene, as well as its segregation with BrS. The results herein suggest a pathogenic effect of this variant. These results could be used as a stepping stone for functional studies to better understand the molecular effects of this variant in BrS.

Abstract 5669: Brugada Syndrome: The Absence of Symptoms is a Poor Predictor of Identifying Individuals at Risk of Sudden Death

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Michael Papadakis ◽  
Carey Edwards ◽  
John C Rawlins ◽  
Sanjay Sharma
Keyword(s):  
Sudden Cardiac Death ◽  
Sudden Death ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Polymorphic Ventricular Tachycardia ◽  
Screening Programs ◽  
First Degree Relatives ◽  
History Of

Risk stratification for sudden death in Brugada syndrome and hence indications for implantation of an internal cardioverter defibrillator are based on the presence of a spontaneous type 1 electrocardiogram (ECG) pattern, in association with unheralded syncope or documented polymorphic ventricular tachycardia. Increasingly, awareness of sudden death in the young and implementation of pre-participation screening programs in sport will identify young, asymptomatic patients with the Brugada phenotype. We evaluated the predictive accuracy of symptoms, particularly unheralded syncope in victims of sudden death from Brugada syndrome. Over the past 3 years we identified 22 victims of sudden cardiac death secondary to Brugada syndrome. The diagnosis was based on sudden death with normal findings at post mortem and the identification of the type 1 Brugada ECG pattern in first-degree relatives (spontaneous or following ajmaline provocation test). All relatives underwent 12-lead ECG, echocardiography, exercise testing, 24-hour Holter monitor and biochemical tests. Cardiac magnetic resonance imaging and coronary angiography were performed when appropriate. Of the victims dying from Brugada syndrome, 15 (68%) were male. The mean age of sudden death was 30 years (range 8 –56 years) and 95% died suddenly at rest or during sleep. We interviewed first-degree relatives and partners regarding prodromal symptoms or a history of epilepsy. Only 3 out of 22 victims (14%) had significant symptoms. Specifically, 2 individuals experienced unheralded syncope and 1 suffered nocturnal seizures. Only 14% had a family history of premature sudden cardiac death. Indeed we obtained 12-lead ECGs in 3 victims taken less than 6 months prior to sudden death, which failed to reveal the typical Brugada ECG phenotype. Our results indicate that the vast majority of individuals who die from Brugada syndrome in the UK are asymptomatic and raise concerns that the absence of symptoms does not necessarily mean low risk. Better understanding of the disorder and risk stratification protocols is necessary to permit genuine reassurance in asymptomatic individuals exhibiting the Brugada phenotype.

scholarly journals Brugada Syndrome: Progress in Genetics, Risk Stratification and Management

2019 ◽  
Vol 8 (1) ◽  
pp. 19-27 ◽  
Author(s):  
Jorge Romero ◽  
Dan L Li ◽  
Ricardo Avendano ◽  
Juan Carlos Diaz ◽  
Roderick Tung ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Molecular Mechanisms ◽  
Asian Countries ◽  
Epicardial Ablation ◽  
Future Studies ◽  
Common Causes ◽  
Southeast Asian Countries

Brugada syndrome (BrS) is one of the most common causes of sudden cardiac death in normal structural heart individuals. First characterised in 1992, the global prevalence of BrS is unclear, with estimates placing it at around 0.05% and presenting most frequently in southeast Asian countries. This review aims to summarise the development in the understanding of BrS and, importantly, progress in its management, underpinned by knowledge regarding its genetics and molecular mechanisms. It also provides update on risk stratification and promising new therapies for BrS, including epicardial ablation. Future studies are required to increase understanding of the pathogenesis of this disease and to guide clinical practice.

scholarly journals Does the Age of Sudden Cardiac Death in Family Members Matter in Brugada Syndrome?

2021 ◽  
Author(s):  
Pattara Rattanawong ◽  
Jakrin Kewcharoen ◽  
Chanavuth Kanitsoraphan ◽  
Timothy Barry ◽  
Anusha Shanbhag ◽  
...  
Keyword(s):  
Family History ◽  
Sudden Cardiac Death ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Meta Analysis ◽  
Positive Family History ◽  
Family Members ◽  
Increased Risk ◽  
History Of ◽  
Risk Predictor

Background Brugada syndrome is an inherited cardiac channelopathy associated with major arrhythmic events (MAEs). The presence of a positive family history of sudden cardiac death (SCD) as a risk predictor of MAE remains controversial. We aimed to examine the association between family history of SCD and MAEs stratified by age of SCD with a systematic review and meta‐analysis. Methods and Results We searched the databases of MEDLINE and EMBASE from January 1992 to January 2020. Data from each study were combined using the random‐effects model. Fitted metaregression was performed to evaluate the association between the age of SCD in families and the risk of MAE. Twenty‐two studies from 2004 to 2019 were included in this meta‐analysis involving 3386 patients with Brugada syndrome. The overall family history of SCD was not associated with increased risk of MAE in Brugada syndrome (pooled odds ratio [OR], 1.11; 95% CI, 0.82–1.51; P =0.489, I 2 =45.0%). However, a history of SCD in family members of age younger than 40 years of age did increase the risk of MAE by ≈2‐fold (pooled OR, 2.03; 95% CI, 1.11–3.73; P =0.022, I 2 =0.0%). When stratified by the age of cut point at 50, 45, 40, and 35 years old, a history of SCD in younger family member was significantly associated with a higher risk of MAE (pooled OR, 0.49, 1.30, 1.51, and 2.97, respectively; P =0.046). Conclusions A history of SCD among family members of age younger than 40 years was associated with a higher risk of MAE.

scholarly journals Long-term Non-Invasive ECG-based Risk Stratification of Sudden Cardiac Death: Extended 5-year Results

2017 ◽  
Vol 11 ◽  
Author(s):  
Elena Okisheva ◽  
Dmitry Tsaregorodtsev ◽  
Vitaly Sulimov
Keyword(s):  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
Predictive Value ◽  
Cardiac Death ◽  
Ecg Monitoring ◽  
Non Invasive ◽  
Increased Risk ◽  
All Cause Mortality ◽  
High Negative Predictive Value

<p>Objectives: To evaluate predictive value of heart rate turbulence (HRT), deceleration capacity (DC) and microvolt T-wave alternans (mTWA) for risk stratification for sudden cardiac death (SCD) in patients after myocardial infarction (MI) during 60 months of follow-up.</p><p>Methods: We studied 111 patients after MI occurred &gt; 60 days (27 [9; 84] months) before enrollment (84 men; mean age 64.1±10.5 years). All subjects had 24-hour ambulatory ECG monitoring with HRT, DC and mTWA evaluation. Follow-up period was 60 months; primary endpoint was SCD, secondary endpoint included all non-sudden cardiovascular deaths.</p><p>Results: During follow-up, we registered 19 cases of SCD and 11 cases of non-sudden cardiovascular deaths (including 7 fatal MI and 3 fatal strokes). DC had high negative predictive value (97.4% for all-cause mortality and 93.7% for SCD). DC values below 4.15 for all-cause mortality and 2.0 for SCD significantly increased risk of all-cause mortality (OR 8.5, 95% CI 2.9 to 24.6, р&lt;0.001) и SCD (OR 9.6, 95% CI 3.2 to 28.5, р&lt;0.001). Combined risk assessment at 12 months revealed that the most significant combination was HRT2 and mTWA100 &gt; 53 mcV, which increased risk both of all-cause mortality (30.7-fold) and SCD (63.3-fold); however, at 60 months this predictive value for SCD decreased (OR = 20.8 (95% CI 2.8 to 114.0), p &lt;0.001).</p>Conclusion: Evaluation of HRT, DC and mTWA during 24-hour ECG monitoring may define the high risk of cardiovascular mortality and SCD in post-MI patients especially during the first 12 months after the baseline examination.

Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants

EP Europace ◽  
2019 ◽  
Vol 21 (10) ◽  
pp. 1550-1558 ◽  
Author(s):  
Michelle M Monasky ◽  
Emanuele Micaglio ◽  
Gabriele Vicedomini ◽  
Emanuela T Locati ◽  
Giuseppe Ciconte ◽  
...  
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Clinical Characteristics ◽  
Inherited Disease ◽  
Future Studies ◽  
Increased Risk ◽  
Arrhythmogenic Substrate ◽  
History Of ◽  
Generation Sequencing

Abstract Aims The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres. Methods and results Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants. Conclusion Future studies are warranted to further characterize the role of these specific SCN10A variants.

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