Prevalence Of Brugada Syndrome Research Articles

Abstract 17005: Brugada Syndrome: Is There a Difference Between Probands and Relatives?

Introduction: Brugada syndrome (BrS) is an inherited arrhythmic disease that is rarely linked to sudden cardiac death (SCD), often associated with SCN5A mutations. Hypothesis: The main objective of this study was to report the demographic, clinical findings and outcomes of a BrS registry in the Maltese Islands, comparing probands and relatives. Methods: Data was collected prospectively in all BrS patients. BrS was defined as per the latest European Society of Cardiology SCD guidelines published in 2022. Patients were placed in two groups (proband vs relative). Results: 120 individuals were included (2.7 per 10,000 individuals) (56.7% male, mean age 44.0±16.5 years at diagnosis, 7.5% athletes). 54 (45.0%) were probands. 61 (50.8%) reported cardiac symptoms. A relevant family history of SCD was present in 55 (46.6%). Follow up period of 49.8 ± 33.3 months. A spontaneous type 1 brugada pattern was the primary method of diagnosis in probands (71.1%), ajmaline provocation in relatives (71.6%) (p<0.001). Probands reported more symptoms (33.1% vs 17.8%, p<0.0001), documented arrhythmias during holter monitoring (29.0% vs 9.3%, p=0.028), and manifested J /ST elevation during stress testing (14.0% vs 5.3%, p=-0.039). The age at diagnosis was similar for probands and relatives. Similar proportions of atrioventricular block (15.7%), prolonged QRS (10.2%), early repolarisation (12.8%), QRS fragmentation (5.6%), low QRS voltages (5.6%) and pathological TWI (8.3%) were observed in both groups. 18 (20.4%) were identified with a SCN5A mutation (P, LP, VUS as per ACMG criteria). 5 patients (4.2%) had a novel variant. 17 (15.3%) were referred for a VT study. 20 (16.7%) had an ICD implanted, more frequent in probands (34.0% vs 3.1%) (p<0.001). 3 were implanted because of OHCA. 27 (22.5%) were implanted with an ILR, commoner in probands (33.3% vs 16.4%, p=0.047). Two patients (10% of ICD subgroup) had an appropriate ICD therapy. One patient is on quinidine because of refractory shocks. Conclusions: The prevalence of BrS in Malta is comparable to other studies. 20.4% (probands) had a SCN5A mutation. The higher incidence of symptoms, arrhythmias, abnormal response during exercise and ICD implantation in probands (vs relatives) may suggest they are a higher risk group.

Arrhythmogenic substrate elimination for safe testosterone therapy in symptomatic Brugada syndrome patients.

Brugada Syndrome (BrS) is a cardiogenetic disease known for its association with sudden cardiac death (SCD) in individuals with structurally normal hearts. The prevalence of BrS is higher in males, who also face a greater risk of SCD. Its higher prevalence and worse outcome in male subjects may be due to testosterone effects on ion channels expression and function. The influence of testosterone on cardiac action potentials, both genomically and non-genomically, underscores its potential role in unmasking the syndrome and triggering life-threatening arrhythmias. Notably, testosterone replacement therapy (TRT), used for hypogonadism and gender reassignment, has been linked to BrS unmasking. The role of epicardial ablation in symptomatic BrS patients where hormonal therapy cannot be discontinued is unknown. In this study we describe the first two cases of substrate mapping and ablation in BrS patients experiencing arrhythmic events while on TRT. In both cases, high-density epicardial mapping revealed abnormal areas of prolonged and fragmented electrograms in the right ventricular (RV) outflow tract and anterior wall. These abnormalities were completely abolished by radiofrequency ablation (RFA). After ablation, both patients showed a persistent normalization of the ECG and were free from ventricular arrhythmias at follow-up, despite ongoing TRT. RFA can be considered as a therapeutic option in symptomatic BrS patients with a high-risk profile who cannot discontinue TRT, being essential for restoring their normal physiology or preserving their sexual identity. As testosterone use is increasing, further studies are warranted to define a standardized diagnostic and therapeutic strategy in this specific subset of BrS patients.

Increased prevalence of ECG suspicious for Brugada Syndrome in recent onset schizophrenia spectrum disorders

BackgroundSchizophrenia is associated with an increased risk of sudden cardiac death, traditionally attributed to prolonged QTc interval and increased prevalence of cardiovascular risk factors. However, defective ion channels implicated in both schizophrenia and Brugada Syndrome (BrS) may be associated with an increased risk of cardiac arrhythmias. Moreover, these cardiac arrhythmias can be provoked by various drugs, including psychotropic drugs. ObjectiveTo assess the prevalence of the occurrence of ECG suspicious for BrS (suspect BrS-ECG) and the prevalence of BrS in patients with recent onset schizophrenia spectrum disorders (SSD). MethodsIn this case-control study, ECGs of 388 patients with recent onset SSD admitted between 2006 and 2015 and 844 healthy controls were made. All persons who had a suspect BrS-ECG were offered an ajmaline provocation test to diagnose or exclude BrS. Data on possible confounders were ascertained. Patients with and without suspect BrS-ECG were compared regarding clinical and ECG variables. ResultsSuspect BrS-ECG was found in 33 patients (8.5%) and 13 healthy controls (1.5%), with an adjusted Odds Ratio of 3.5 (p < 0.0001). This finding was not explained by potential confounders such as gender, age, ethnicity, cannabis use, cardiovascular risk factors, medication use or serum electrolytes. BrS was confirmed in three patients and one control. ConclusionA considerable subset of patients with recent onset SSD have suspect BrS-ECG, extending earlier findings in patients with chronic schizophrenia. Screening for BrS in schizophrenia could be relevant both to prevent sudden cardiac death and to identify a subgroup of patients with possible ion-channel dysfunctioning.

Brugada syndrome in a young patient with type 1 myotonic dystrophy requiring an implantable cardioverter defibrillator for primary prevention: a case report.

Background Cardiac electrical disturbances represent the most frequent cardiac manifestations of myotonic dystrophy Type 1 (MD1). Limited data suggest that the prevalence of Brugada syndrome in MD1 may be increased compared to the general population.Case summary We report a case of a 22-year-old asymptomatic man with repolarization abnormalities in leads V1–V3 suggestive of Type III Brugada pattern. The patient had a family history of MD and incidents of sudden death in relatives. Drug-induced Brugada Type 1 syndrome was revealed after procainamide challenge. A ventricular stimulation study was positive since a polymorphic ventricular tachycardia was induced after two extrastimuli. The patient underwent implantation of a single chamber cardiac defibrillator (ICD). Eight months after the procedure he suffered an appropriate ICD shock due to rapid polymorphic ventricular tachycardia.Discussion Brugada syndrome is linked with MD1. Potential life-threatening arrhythmias may develop in the adult life of MD1 patients. Electrocardiographic surveillance and tailored invasive treatment with ICDs can prevent sudden cardiac death in this setting.

4286Population based prevalence of Brugada syndrome in a young male population in southeast asia

4286Population based prevalence of Brugada syndrome in a young male population in southeast asia

Case of Brugada Syndrome

In 1992 Brugada et al. described clinical entity associated with ST segment elevation in precordial leads (V1 to V3) with incomplete or complete Right Bundle Branch Block and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described. The disease is now know as “Brugada syndrome” (BrS). The prevalence of Brugada syndrome is unknown as mostly is goes undiagnosed. Common presentation of Brugada syndrome is syncope typically occuring at rest or during sleep (mostly seen in third or fourth decade of life). Brugada syndrome can be life threatening in some cases as tachycardia does not terminate and it may degenerate into ventricular fibrillation and leads to sudden cardiac death. Brugada syndrome is an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5Agene on chromosome 3p21-23, encoding the cardiac sodium channel. SCN5A is a protein involved in the control of myocardial excitability.Sodium channels are heat sensitive so fever can also unmask Brugada syndrome. The use of the implantable cardioverter defibrillator (ICD) is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest.

Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management.

Brugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family's specific preferences.

The Prevalence of Brugada ECG in Adult Patients in a Large University Hospital in the Western United States

The prevalence of Brugada ECG in the United States is controversial and has not been studied in the western United States. The goal of this study is to evaluate the prevalence of Brugada syndrome appearing on ECGs in a large university hospital located in California. A total of 1348 ECGs performed at a university hospital in southern California in 1995 were randomly selected and reviewed for fulfilling 1 of the 3 types of Brugada criteria. Patients' baseline data were recorded, including age, sex, and race. Only 2 (0.14%) ECGs were consistent with 1 of the 3 types of Brugada syndrome. Both were classified as type 2. One of the patients was an Asian woman and the second was a Hispanic man. The mean age of study population was 52.7+/-16.2 years and consisted of 55% Caucasian patients followed by 20.8% Hispanic patients. The incidence of Brugada is rare among adult patients at a university hospital in the western United States.

Frequency of Brugada-Type ECG Pattern (Brugada Sign) in Southern Turkey

The frequency of Brugada sign was found to differ among ethnic groups. Yet, there is no data regarding the prevalence of Brugada syndrome and sign in our country. The aim of this study was to determine the frequency of a Brugada-type electrocardiogram (ECG) pattern in southern Turkey. A total of 1,238 subjects (males, 671, females, 567) were included in the study. The previously archived ECGs of 807 subjects without any evidence of structural heart disease were chosen randomly and evaluated. In addition, prospective analysis of the ECGs of 431 subjects (males, 293, females, 138) randomly chosen from healthy university students were also included. The mean age was 38.9 +/- 17.6 years. Six subjects (0.48%) had a Brugada-type ECG pattern. One (0.08%) of them had the coved-type and 5 (0.40%) had the saddleback-type. All subjects were asymptomatic. A Brugada-type ECG pattern was obtained in 1 (0.17%) female and in 5 (0.74%) males (OR: 4.2 CI: 0.5-36.4, P = 0.2). The Brugada-type ECG pattern frequency was 0.12% in subjects >or= 25 years old and 1.16% in subjects between 17-24 years old (OR: 9.4 CI: 1.1-81.2, P = 0.02). Young males between 17-24 years had the highest (1.70%) frequency. The results indicate that the frequency of the Brugada-type ECG pattern was 0.48% in the general population, being more prevalent in young males in our region. These results are similar to the findings of studies performed in other countries.