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Molecular autopsy has recently been gaining attention as a means of postmortem diagnosis; however, it is usually performed using the victim's blood sample at the time of death. Here, we report the first case of a deceased infant with Brugada syndrome whose diagnosis was made with banked cord blood. A seemingly healthy 1-year-old male infant collapsed while having a fever; this collapse was witnessed by his mother. Despite cardiopulmonary resuscitation, he died of ventricular fibrillation. No abnormalities of cardiac structure were identified on autopsy. Genomic samples were not stored at the time because of a lack of suspicion for familial arrhythmia. Five years later, his sister showed Brugada electrocardiogram pattern while febrile from Kawasaki disease. Their father showed a spontaneous type 1 Brugada electrocardiogram pattern. A heterozygous SCN5A p.R893C variant was found by genetic testing in the proband's father and sister. Furthermore, the proband's genetic testing was performed using his banked cord blood, which identified the same variant. Family history of Brugada syndrome with an SCN5A-R893C variant and clinical evidence led to a postmortem diagnosis of Brugada syndrome in the proband. Identification of this variant in this case later contributed to verifying SCN5AR893C as a pathogenic variant through data accumulation. Banked cord blood may prove useful for conducting molecular autopsies in previously undiagnosed cases of sudden death in which genomic samples were not stored. [ABSTRACT FROM AUTHOR]

While Brugada syndrome (BrS) is well described in adults and older children, presentation of BrS within the first 12 months of life is rare and therefore poorly characterized. We report a 7‐year‐old male with a malignant BrS phenotype with onset at 8 months of age, leading to multiple ventricular tachycardia (VT) and ventricular fibrillation (VF) related cardiac arrests and ultimately his death. The report is supplemented by a comprehensive review of existing literature on infantile‐onset BrS and unique features in this population are discussed. [ABSTRACT FROM AUTHOR]

Brugada syndrome is an inherited genetic disorder known to cause a variety of patient complaints but may ultimately cause ventricular fibrillation and sudden cardiac death. We present a patient with witnessed seizure who was ultimately diagnosed with Brugada syndrome. Multiple ventricular arrhythmias complicated the case, which was managed in- and out-of-hospital. [ABSTRACT FROM AUTHOR]

Introduction: Repolarization dispersion in the right ventricular outflow tract (RVOT) contributes to the type‐1 electrocardiographic (ECG) phenotype of Brugada syndrome (BrS), while data on the significance and feasibility of mapping repolarization dispersion in BrS patients are scarce. Moreover, the role of endocardial repolarization dispersion in BrS is poorly investigated. We aimed to assess endocardial repolarization patterns through an automated calculation of activation recovery interval (ARI) estimated on unipolar electrograms (UEGs) in spontaneous type‐1 BrS patients and controls; we also investigated the relation between ARI and right ventricle activation time (RVAT), and T‐wave peak‐to‐end interval (Tpe) in BrS patients. Methods: Patients underwent endocardial high‐density electroanatomical mapping (HDEAM); BrS showing an overt type‐1 ECG were defined as OType1, while those without (latent type‐1 ECG and LType1) received ajmaline infusion. BrS patients only underwent programmed ventricular stimulation (PVS). Data were elaborated to obtain ARI corrected with the Bazett formula (ARIc), while RVAT was derived from activation maps. Results: 39 BrS subjects (24 OType1 and 15 LTtype1) and 4 controls were enrolled. OType1 and post‐ajmaline LType1 showed longer mean ARIc than controls (306 ± 27.3 ms and 333.3 ± 16.3 ms vs. 281.7 ± 10.3 ms, p = .05 and p < .001, respectively). Ajmaline induced a significant prolongation of ARIc compared to pre‐ajmaline LTtype1 (333.3 ± 16.3 vs. 303.4 ± 20.7 ms, p < .001) and OType1 (306 ± 27.3 ms, p < .001). In patients with type‐1 ECG (OTtype1 and post‐ajmaline LType1) ARIc correlated with RVAT (r = .34, p = .04) and Tpec (r = .60, p < .001), especially in OType1 subjects (r = .55, p = .008 and r = .65 p < .001, respectively). Conclusion: ARIc mapping demonstrates increased endocardial repolarization dispersion in RVOT in BrS. Endocardial ARIc positively correlates with RVAT and Tpec, especially in OType1. [ABSTRACT FROM AUTHOR]

Brugada phenocopy is considered when a Brugada-type ECG pattern is present but with a low likelihood of true Brugada syndrome, as indicated by negative family history, genetic testing, or provocative testing with drugs, or ECG normalization after the removal of precipitants. Brugada phenocopy has been reported due to various causes such as fever and electrolyte imbalance. We describe a 22-year-old man who presented with aluminum phosphide poisoning, resulting in severe metabolic acidosis, myocarditis, and profound myocardial depression. He developed transient Brugada-like ECG changes and multiorgan dysfunction, requiring intensive management, including mechanical ventilation and inotropes. Brugada phenocopy is a rare manifestation of aluminum phosphide-associated toxic myocarditis. After a week of treatment, there was a significant improvement in cardiac function and overall clinical status. [ABSTRACT FROM AUTHOR]

Allergic reactions to components of cardiac implantable electronic devices are rare and often go undiagnosed, which can lead to a misdiagnosis of device infection. Contact allergy to subcutaneous implantable cardioverter defibrillator (S‐ICD) is extremely rare. In this report, we present a case of cobalt‐related contact allergy in a pediatric patient with Brugada syndrome who underwent S‐ICD implantation. [ABSTRACT FROM AUTHOR]

Introduction: The histopathological characteristics of the overlapping disease states of Brugada syndrome (BrS) and arrhythmogenic right ventricular cardiomyopathy (ARVC) have not been fully elucidated. Methods: A 71‐year‐old man showed coved‐type ST‐segment elevation with the right precordial leads, and the echocardiography demonstrated right ventricular (RV) dilatation. After 11 months, he died of a polymorphic VT storm. Results: The pathological tissue demonstrated fibrofatty degeneration in the free wall of the RV outflow tract based on the heart autopsy. Conclusion: The overlapping disease states of BrS and ARVC showed histopathological characteristics consistent with ARVC. [ABSTRACT FROM AUTHOR]

Brugada syndrome (BrS) is a controversial disease whose pathophysiology is still far from being fully understood. Unlike other cardiological disorders, a definite etiology has not yet been established so that it could be summarized under two main chapters: "functional" or "organic", "repolarization" or "depolarization" disorder. Despite initial descriptions leaned towards the organic substrate and delayed depolarization features, functional and repolarization theories have attracted most of the Cardiological attention for many years. Data from electrocardiography, endocavitary tracings, electroanatomic mapping and histopathology, however, demonstrated that BrS is mainly characterized by structural myocardial changes mostly at the right ventricular outflow tract (RVOT), but also at the right ventricle (RV) and by delayed conduction at the same sites. Conduction disorders at different levels may also be present and identify patients at high risk for major arrhythmic events. The aim of the present review is to provide the current state of art of the pathophysiology of BrS, focusing on electro‐vectorcardiography and electrophysiological features, histopathology, echocardiography, and cardiac magnetic resonance imaging (CMRI). [ABSTRACT FROM AUTHOR]

Background: The coexistence of clinical atrioventricular nodal reentrant tachycardia (AVNRT) and drug‐induced type 1 Brugada pattern (DI‐Type 1 BrP) has been previously reported. The present study was designed to determine the 12‐lead ECG characteristics at baseline and during AVNRT and to identify a subset of 12‐lead ECG variables of benefit associated with underlying Brugada syndrome (BrS)/DI‐Type 1 BrP among patients with slow/fast AVNRT. Methods: A total of 40 (11 numerical/29 categorical) 12‐lead ECG parameters were analyzed and compared between patients with (n = 69) and without (n = 104) BrS/DI‐Type1‐BrP matched for age, female gender, body mass index, left ventricular ejection fraction and comorbid conditions. Five distinct types of ECG pattern (Type A/B/C/D/E) in V1–V2 leads during AVNRT were defined. Results: A total of nine electrocardiographic variables, four at baseline, and five during AVNRT were identified. At baseline, patients with BrS/DI‐Type 1 BrP had higher prevalence of interatrial block, leftward shift of frontal plane QRS axis, the absence of normal QRS pattern (the presence of rSr' pattern or type 2/3 Brugada pattern) in V1–V2 and QRS fragmentation in inferior leads compared to patients without BrS/DI‐Type 1 BrP. During AVNRT, patients with BrS/DI‐Type 1 BrP had higher prevalence of Type A ECG pattern ("coved‐type" ST‐segment elevation) in V1–V2, Type C ECG pattern (pseudo‐r' deflection in V1 and "RBBB‐like" pattern in V2), pseudo‐r' deflection in V1, QRS fragmentation in inferior leads and "isolated" QRS fragmentation/notching/slurring in aVL compared to patients without BrS/DI‐Type 1 BrP. Conclusions: We identify several electrocardiographic variables that point to an underlying type 1 BrP among patients with slow/fast AVNRT. [ABSTRACT FROM AUTHOR]

Coronavirus disease (COVID-19) is an illness that was sudden, unexpected, and global. Primarily a disease of the vascular endothelium, the virus threatens all of core systems, as well as behavioral and mental health, during the acute and long-term phases. Attention is now being given to the identification and care of post-acute sequelae of COVID-19. This article presents the case of a "long hauler" who presented post-cardiac arrest with a history of COVID-19. Diagnosed with Brugada syndrome, his assessment, diagnosis, and care are discussed. In addition, the need for early identification and care for patients with post-COVID-19 symptoms is addressed. [ABSTRACT FROM AUTHOR]

Intravenous infusion of sodium-channel blockers (SCB) with either ajmaline, flecainide, procainamide, or pilsicainide to unmask the ECG of Brugada syndrome is the drug challenge most commonly used for diagnostic purposes when investigating cases possibly related to inherited arrhythmia syndromes. For a patient undergoing an SCB challenge, the impact of a positive result goes well beyond its diagnostic implications. It is, therefore, appropriate to question who should undergo a SCB test to diagnose or exclude Brugada syndrome and, perhaps more importantly, who should not. We present a critical review of the benefits and drawbacks of the SCB challenge when performed in cardiac arrest survivors, patients presenting with syncope, family members of probands with confirmed Brugada syndrome, and asymptomatic patients with suspicious ECG., Competing Interests: None.

Genetic arrhythmia disorders are rare diseases; however, they are a common cause of sudden cardiac death in children, adolescents, and young adults. In principle, a distinction can be made between channelopathies and cardiomyopathies in the context of genetic diseases. This paper focuses on the channelopathies long and short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). Early diagnosis of these diseases is essential, as drug therapy, behavioral measures, and if necessary, implantation of a cardioverter defibrillator can significantly improve the prognosis and quality of life of patients. This paper highlights the pathophysiological and genetic basis of these channelopathies, describes their clinical manifestations, and comments on the principles of diagnosis, risk stratification and therapy., (© 2024. The Author(s).)

Brugada syndrome (BrS) is a cardiac electrophysiological disease with unknown etiology, associated with sudden cardiac death. Symptomatic patients are treated with implanted cardiac defibrillator, but no risk stratification strategy is effective in patients that are at low to medium arrhythmic risk. Cardiac computational modeling is an emerging tool that can be used to verify the hypotheses of pathogenesis and inspire new risk stratification strategies. However, to obtain reliable results computational models must be validated with consistent experimental data. We reviewed the main electrophysiological and structural variables from BrS clinical studies to assess which data could be used to validate a computational approach. Activation delay in the epicardial right ventricular outflow tract is a consistent finding, as well as increased fibrosis and subclinical alterations of right ventricular functional and morphological parameters. The comparison between other electrophysiological variables is hindered by methodological differences between studies, which we commented. We conclude by presenting a recent theory unifying electrophysiological and structural substrate in BrS and illustrate how computational modeling could help translation to risk stratification., (© 2024 Wiley Periodicals LLC.)

Background: Risk stratification in Brugada syndrome (BrS) remains controversial. In this respect, the role of the electrophysiology study (EPS) has been a subject of debate. In some centers, it is common practice to use an implantable loop recorder (ILR) after a negative EPS to help in risk stratification. However, the diagnostic value of this approach has never been specifically addressed., Objective: The aim of this study was to describe the baseline characteristics and the main findings of a diagnostic workup strategy with an ILR after a negative EPS in BrS., Methods: We conducted a retrospective international registry including patients with BrS and negative EPS (ie, noninducible ventricular tachycardia or ventricular fibrillation) before ILR monitoring., Results: The study included 65 patients from 8 referral hospitals in The Netherlands, Spain, and the United Kingdom (mean age, 39 ± 16 years; 72% male). The main indication for ILR monitoring was unexplained syncope/presyncope (66.2%). During a median follow-up of 39.0 months (Q1 25.0-Q3 47.6 months), 18 patients (27.7%) experienced 21 arrhythmic events (AEs). None of the patients died during follow-up. Bradyarrhythmias were the most common finding (47.6%), followed by atrial tachyarrhythmias (38.1%). Only 3 patients presented with ventricular arrhythmias. AEs were considered incidental in 12 patients (66.7%). In 11 patients (61.1%), AEs led to specific changes in treatment., Conclusion: The use of ILR after a negative EPS in BrS is a safe strategy that reflected the high negative predictive value of EPS for ventricular arrhythmia in this syndrome. In addition, it allowed the detection of AEs in a significant proportion of patients, with therapeutic implications in most of them., Competing Interests: Disclosures S.-C.Y. has received honoraria (speaker or consultancy fee) from Boston Scientific, Medtronic, Abbott, Acutus Medical, and Sanofi; and research grants from Medtronic, Biotronik, and Boston Scientific. C.S. received support from the British Heart Foundation Project Grant No. PG/15/107/31908 and C.S. and E.R.B. from the Robert Lancaster Memorial Fund sponsored by McColl’s Retail Group Ltd. J.T. has received honoraria (speaker or consultancy fee) from Boston Scientific, Medtronic, Abbott, and Bayer; and research grants from Abbott and Medtronic., (Copyright © 2024 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.)

Competing Interests: Funding Support and Author Disclosures Dr Petzl is supported by the George Mines Fellowship Grant from the Canadian Heart Rhythm Society. Dr Markman is supported by the F. Harlan Batrus EP Research Fund, the Winkelman Family Fund in Cardiovascular Innovation, and the NIH NHLBI (K23 HL161349.

Brugada Syndrome Type 1 is an arrhythmogenic disorder triggered by various etiologies, including febrile illness, pregnancy, and certain medications. This paper describes the electrocardiographic (ECG) manifestation of the Brugada pattern in a patient who developed ventricular arrhythmia after undergoing general anesthesia for pituitary surgery.

Competing Interests: Disclosures The authors have no conflicts of interest to disclose.

A 6‐year‐old girl presented with a difficult to control epilepsy syndrome. On evaluation, additional presyncope episodes associated with polymorphic ventricular tachycardia were also noted. A diagnosis of early repolarization syndrome (ERS) was made with an early repolarization pattern on electrocardiogram, documented VT episodes, and clinical presyncope (proposed Shanghai score 7). Paroxysmal atrial fibrillation (AF) was also noted on 24‐h Holter recordings. The child was stabilized with isoprenaline infusion and was later discharged with arrhythmia control on quinidine and cilostazol. The genetic evaluation revealed a potassium channel KCND3 gene missense mutation. The case highlights the association of epilepsy syndrome and AF with ERS; the possible association of KCND3 gene mutation with a malignant phenotype; and management issues in a small child. [ABSTRACT FROM AUTHOR]

J wave syndrome is a spectrum of proarrhythmic disorders including Brugada syndrome and early repolarization syndrome (ERS), that are prone to ventricular fibrillation and sudden cardiac death (SCD). In this case report we present a patient with ERS and aborted SCD complicated with cognitive impairment. We also investigated whether performing transcranial direct current stimulation to target his cognitive impairment, interfered with the function of his implantable cardioverter defibrillator. [ABSTRACT FROM AUTHOR]

Aims: Ajmaline challenge can unmask subcutaneous implantable cardioverter-defibrillator (S-ICD) screening failure in patients with Brugada syndrome (BrS) and non-diagnostic baseline electrocardiogram (ECG). The efficacy of the SMART Pass (SP) filter, a high-pass filter designed to reduce cardiac oversensing (while maintaining an appropriate sensing margin), has not yet been assessed in patients with BrS. The aim of this prospective multicentre study was to investigate the effect of the SP filter on dynamic Brugada ECG changes evoked by ajmaline and to assess its value in reducing S-ICD screening failure in patients with drug-induced Brugada ECGs.Methods and Results: The S-ICD screening with conventional automated screening tool (AST) was performed during ajmaline challenge in subjects with suspected BrS. The S-ICD recordings were obtained before, during and after ajmaline administration and evaluated by the means of a simulation model that emulates the AST behaviour with and without SP filter. A patient was considered suitable for S-ICD if at least one sensing vector was acceptable in all tested postures. A sensing vector was considered acceptable in the presence of QRS amplitude >0.5 mV, QRS/T-wave ratio >3.5, and sense vector score >100. Of the 126 subjects (mean age: 42 ± 14 years, males: 61%, sensing vectors: 6786), 46 (36%) presented with an ajmaline-induced Brugada type 1 ECG. Up to 30% of subjects and 40% of vectors failed the screening during the appearance of Brugada type 1 ECG evoked by ajmaline. The S-ICD screening failure rate was not significantly reduced in patients with Brugada ECGs when SP filter was enabled (30% vs. 24%). Similarly, there was only a trend in reduction of vector-failure rate attributable to the SP filter (from 40% to 36%). The most frequent reason for screening failure was low QRS amplitude or low QRS/T-wave ratio. None of these patients was implanted with an S-ICD.Conclusion: Patients who pass the sensing screening during ajmaline can be considered good candidates for S-ICD implantation, while those who fail might be susceptible to sensing issues. Although there was a trend towards reduction of vector sensing failure rate when SP filter was enabled, the reduction in S-ICD screening failure in patients with Brugada ECGs did not reach statistical significance.Clinical Trial Registration: https://clinicaltrials.gov Unique Identifier NCT04504591. [ABSTRACT FROM AUTHOR]

Brugada syndrome (BrS) is an inherited cardiac disorder, characterised by a typical ECG pattern and an increased risk of arrhythmias and sudden cardiac death (SCD). BrS is a challenging entity, in regard to diagnosis as well as arrhythmia risk prediction and management. Nowadays, asymptomatic patients represent the majority of newly diagnosed patients with BrS, and its incidence is expected to rise due to (genetic) family screening. Progress in our understanding of the genetic and molecular pathophysiology is limited by the absence of a true gold standard, with consensus on its clinical definition changing over time. Nevertheless, novel insights continue to arise from detailed and in-depth studies, including the complex genetic and molecular basis. This includes the increasingly recognised relevance of an underlying structural substrate. Risk stratification in patients with BrS remains challenging, particularly in those who are asymptomatic, but recent studies have demonstrated the potential usefulness of risk scores to identify patients at high risk of arrhythmia and SCD. Development and validation of a model that incorporates clinical and genetic factors, comorbidities, age and gender, and environmental aspects may facilitate improved prediction of disease expressivity and arrhythmia/SCD risk, and potentially guide patient management and therapy. This review provides an update of the diagnosis, pathophysiology and management of BrS, and discusses its future perspectives. [ABSTRACT FROM AUTHOR]

Background: Late potentials (LPs) identified on the signal averaged electrocardiogram (SAECG) are a marker for an increased risk of arrhythmias in Brugada syndrome (BrS). Procainamide is a sodium channel blocker used to diagnose BrS. The effects of Procainamide on the SAECG in those with BrS and the significance of Procainamide‐induced LPs are unknown. Methods: Procainamide provocation was performed for suspected BrS with 12‐lead and SAECG pre‐ and post‐infusion. Filtered QRS duration (fQRSd), duration of low amplitude signals <40 μV (LAS40) and root‐mean‐square voltage in the terminal 40 ms (RMS40) were determined. Results: Data from 150 patients were included in the analysis (mean age 44.5 years, 109 males). Procainamide increased fQRSd (Pre 118.8 ± 10.5 ms, post 121.2 ± 10.2 ms, p < 0.001) and LAS40 (Pre 38.7 ± 9.8 ms, post 40.2 ± 10.5 ms, p = 0.005) and decreased RMS40 (Pre 24.6 ± 12 ms, post 22.8 ± 12 ms, p = 0.002). LPs were present in 68/150 (45%) at baseline. Fifteen patients with negative baseline SAECGs had LPs unmasked by Procainamide, but six patients had LPs at baseline that were no longer present following Procainamide. Comparing those with normal hearts (n = 48) to those with a final diagnosis of BrS (n = 38), Procainamide prolonged fQRSd to a greater extent in those with BrS. Comparing those with Procainamide‐induced LPs to those with no LPs at any time did not highlight any aspect of phenotype and did not correlate with a history of ventricular arrhythmias. Conclusions: Procainamide influences the SAECG, provoking LPs in a small proportion of patients. However, there is no evidence that Procainamide‐induced LPs provide additional diagnostic information or aid risk stratification. [ABSTRACT FROM AUTHOR]

Background: Brugada syndrome is a genetic disorder of cardiac conduction that predisposes patients to spontaneous ventricular arrhythmia and sudden cardiac death. Although Brugada syndrome is one of the most common causes of sudden cardiac death, patients presenting with the syndrome often go misdiagnosed. This error has potentially fatal consequences for patients, who are at risk for sudden cardiac death without appropriate management. Objective: To increase the critical care professional's knowledge of Brugada syndrome through detailed description of the characteristic electrocardiographic findings, an algorithmic approach to electrocardiogram evaluation, and a case report of a patient with a previously missed diagnosis of Brugada syndrome. The essential concepts of epidemiology, pathophysiology, clinical presentation, risk stratification, and management are reviewed for critical care professionals who may encounter patients with the syndrome. Diagnosis: Patients typically present with syncope or cardiac arrest and an abnormal electrocardiographic finding of ST-segment elevation in the precordial leads. The diagnosis of Brugada syndrome centers on identification of its electrocardiographic characteristics by critical care professionals who routinely evaluate electrocardiograms. Critical care professionals, especially nurses and advanced practice nurses, should be proficient in recognizing the electrocardiographic appearance of Brugada syndrome and initiating appropriate management. Interventions: Management strategies include prevention of sudden cardiac death through lifestyle modification and placement of an implantable cardioverter-defibrillator. Critical care professionals should be aware of commonly used medications that may exacerbate ventricular arrhythmia and place patients at risk for sudden cardiac death. Conclusion: Increased awareness of Brugada syndrome among critical care professionals can decrease patient morbidity and mortality. [ABSTRACT FROM AUTHOR]

Brugada syndrome (BrS) is a genetic disorder known for its characteristic electrocardiogram (ECG) patterns and increased risk of sudden cardiac death. Brugada phenocopy (BrP) presents similar ECG patterns but is distinguished by its reversible nature when the underlying conditions are resolved. This article delineates the intricacies of BrP, emphasizing its etiology, clinical presentation, diagnosis, treatment, and prognosis. The article categorizes BrP based on various underlying causes, including metabolic disturbances, myocardial infarction, and mechanical compression, among others. It also underscores the critical importance of differentiating BrP from BrS to avoid misdiagnosis and inappropriate treatment, such as unnecessary implantation of cardioverter-defibrillators. The reversible aspect of BrP underlines the necessity for an etiology-specific approach to treatment, which not only prevents cardiac death but also highlights the significance of understanding the dynamic nature of ECG patterns. Through an exploration of case studies and current research, this review advocates for increased awareness and further investigation into BrP. It aims to enhance the diagnostic accuracy and management strategies, thereby improving the prognosis for patients presenting with Brugada-like ECG patterns. The review culminates in a call for further research to close existing knowledge gaps and improve patient outcomes., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

BACKGROUND Brugada syndrome is characterized by specific electrocardiographic changes predisposing individuals to ventricular arrhythmias and sudden cardiac death. Cases of coexisting Brugada syndrome and ischemic stroke are seldom documented, and an underlying pathophysiological link is yet unknown. This article presents a case in which a patient exhibited both Brugada syndrome patterns and an ischemic stroke, prompting a comprehensive literature review to explore the potential association between Brugada syndrome and ischemic stroke. CASE REPORT A 49-year-old man, previously healthy, was admitted to the hospital after being discovered unconscious at his workplace. Physical exam showed low oxygen saturation, fever, and abnormal neurological findings. Head computed tomography revealed a significant posterior circulation ischemic stroke. An electrocardiogram revealed Brugada syndrome type II initially, progressing to type III pattern. Despite efforts, the patient's condition rapidly deteriorated, leading to death within 24 hours. As far as we're aware, Brugada patterns following a posterior circulation ischemic stroke have only been documented in 1 other instance, in which the patient was also diagnosed with atrial fibrillation. CONCLUSIONS Both our literature review and the presented case indicate that Brugada patterns may coexist with and even be associated with ischemic stroke. More extensive research is required to shed light on this potential association. The question of whether Brugada syndrome is a precursor to or a result of ischemic stroke remains unanswered. We propose that patients with ischemic stroke should undergo an evaluation for electrocardiographic signs indicative of Brugada syndrome, particularly if no clear causes, like cardioembolism, are evident.

Background: Brugada syndrome (BrS) has been associated with sudden cardiac death in otherwise healthy subjects, and drug-induced BrS accounts for 55% to 70% of all patients with BrS. This study aims to develop a deep convolutional neural network and evaluate its performance in recognizing and predicting BrS diagnosis., Methods and Results: Consecutive patients who underwent ajmaline testing for BrS following a standardized protocol were included. ECG tracings from baseline and during ajmaline were transformed using wavelet analysis and a deep convolutional neural network was separately trained to (1) recognize and (2) predict BrS type I pattern. The resultant networks are referred to as BrS-Net. A total of 1188 patients were included, of which 361 (30.3%) patients developed BrS type I pattern during ajmaline infusion. When trained and evaluated on ECG tracings during ajmaline, BrS-Net recognized a BrS type I pattern with an AUC-ROC of 0.945 (0.921-0.969) and an AUC-PR of 0.892 (0.815-0.939). When trained and evaluated on ECG tracings at baseline, BrS-Net predicted a BrS type I pattern during ajmaline with an AUC-ROC of 0.805 (0.845-0.736) and an AUC-PR of 0.605 (0.460-0.664)., Conclusions: BrS-Net, a deep convolutional neural network, can identify BrS type I pattern with high performance. BrS-Net can predict from baseline ECG the development of a BrS type I pattern after ajmaline with good performance in an unselected population.

Molecular autopsy has recently been gaining attention as a means of postmortem diagnosis; however, it is usually performed using the victim's blood sample at the time of death. Here, we report the first case of a deceased infant with Brugada syndrome whose diagnosis was made with banked cord blood. A seemingly healthy 1-year-old male infant collapsed while having a fever; this collapse was witnessed by his mother. Despite cardiopulmonary resuscitation, he died of ventricular fibrillation. No abnormalities of cardiac structure were identified on autopsy. Genomic samples were not stored at the time because of a lack of suspicion for familial arrhythmia. Five years later, his sister showed Brugada electrocardiogram pattern while febrile from Kawasaki disease. Their father showed a spontaneous type 1 Brugada electrocardiogram pattern. A heterozygous SCN5A p.R893C variant was found by genetic testing in the proband's father and sister. Furthermore, the proband's genetic testing was performed using his banked cord blood, which identified the same variant. Family history of Brugada syndrome with an SCN5A-R893C variant and clinical evidence led to a postmortem diagnosis of Brugada syndrome in the proband. Identification of this variant in this case later contributed to verifying SCN5A-R893C as a pathogenic variant through data accumulation. Banked cord blood may prove useful for conducting molecular autopsies in previously undiagnosed cases of sudden death in which genomic samples were not stored., Competing Interests: CONFLICT OF INTEREST DISCLOSURES: The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2024 by the American Academy of Pediatrics.)

Aims: Brugada syndrome (BrS) diagnosis and risk stratification rely on the presence of a spontaneous type 1 (spT1) electrocardiogram (ECG) pattern; however, its spontaneous fluctuations may lead to misdiagnosis and risk underestimation. This study aims to assess the role for repeat high precordial lead (HPL) resting and ambulatory ECG monitoring in identifying a spT1, and evaluate its prognostic role., Methods and Results: HPL resting and ambulatory monitoring ECGs of BrS subjects were reviewed retrospectively, and the presence of a spT1 associated with ventricular dysrhythmias and sudden cardiac death (SCD). Three-hundred and fifty-eight subjects (77 with spT1 pattern at presentation, Group 1, and 281 without, Group 2) were included. In total, 1651 resting HPL resting and 621 ambulatory monitoring ECGs were available for review, or adequately described. Over a median follow-up of 72 months (interquartile range - IQR - 75), 42/77 (55%) subjects in Group 1 showed a spT1 in at least one ECG. In Group 2, 36/281 subjects (13%) had a newly detected spT1 (1.9 per 100 person-year) and 23 on an HPL ambulatory recording (8%). Seven previously asymptomatic subjects, five of whom had a spT1 (four at presentation and one at follow-up), experienced arrhythmic events; survival analysis indicated that a spT1, either at presentation or during lifetime, was associated with events. Univariate models showed that a spT1 was consistently associated with increased risk [spT1 at presentation: hazard ratio (HR) 6.3, 95% confidence interval (CI) 1.4-28, P = 0.016; spT1 at follow-up: HR 3.1, 95% CI 1.3-7.2, P = 0.008]., Conclusion: Repeated ECG evaluation and HPL ambulatory monitoring are vital in identifying transient spT1 Brugada pattern and its associated risk., Competing Interests: Conflict of interest: The authors have no relevant conflict to declare. E.R.B. undertakes consulting for Boston Scientific., (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Inherited cardiovascular diseases are rare diseases that are difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the diagnosis of these diseases, in which the identification of a pathogenic genetic variant is often a diagnostic criterion. Therefore, genetic variant classification and routine reinterpretation as data become available represent one of the main challenges associated with genetic analyses. Using the genetic variants identified in an inherited cardiovascular diseases unit during a 10-year period, the objectives of this study were: 1) to evaluate the impact of genetic variant reinterpretation, 2) to compare the reclassification rates between different cohorts of cardiac channelopathies and cardiomyopathies, and 3) to establish the most appropriate periodicity for genetic variant reinterpretation. All the evaluated cohorts (full cohort of inherited cardiovascular diseases, cardiomyopathies, cardiac channelopathies, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia) showed reclassification rates above 25%, showing even higher reclassification rates when there is definitive evidence of the association between the gene and the disease in the cardiac channelopathies. Evaluation of genetic variant reclassification rates based on the year of the initial classification showed that the most appropriate frequency for the reinterpretation would be 2 years, with the possibility of a more frequent reinterpretation if deemed convenient. To keep genetic variant classifications up to date, genetic counsellors play a critical role in the reinterpretation process, providing clinical evidence that genetic diagnostic laboratories often do not have at their disposal and communicating changes in classification and the potential implications of these reclassifications to patients and relatives., Competing Interests: Ramon Brugada is a consultant for Genincode. This does not alter our adherence to PLOS ONE policies on sharing data and materials., (Copyright: © 2024 Fernandez-Falgueras et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Brugada phenocopies are conditions that have an electrocardiography (ECG) pattern that mimics typical patterns seen in Brugada syndrome (BS). We report a rare case of a patient who had a Brugada-like ECG pattern caused by ischemia due to strangulation of the septal artery. The patient was treated with thrombolytic therapy after a probable diagnosis of ST-elevation myocardial infarction (STEMI), which resulted in hematologic complications., (© Journal of the Association of Physicians of India 2024.)

Background: There are limited real-world data on the extended prognosis of patients with drug-induced type 1 Brugada electrocardiogram (ECG)., Objective: We assessed the clinical outcomes and predictors of life-threatening arrhythmias in patients with drug-induced type 1 Brugada ECG., Methods: This multicenter retrospective study, conducted at 21 Italian and Swiss hospitals from July 1997 to May 2021, included consecutive patients with drug-induced type 1 ECG. The primary outcome, a composite of appropriate ICD therapies and sudden cardiac death, was assessed along with the clinical predictors of these events., Results: A total of 606 patients (mean age 49.7 ± 14.7 years; 423 [69.8%] men) were followed for a median of 60.3 months (interquartile range 23.0-122.4 months). Nineteen patients (3.1%) experienced life-threatening arrhythmias, with a median annual event rate of 0.5% over 5 years and 0.25% over 10 years. The SCN5A mutation was the only predictor of the primary outcome (hazard ratio 4.54; P = .002), whereas a trend was observed for unexplained syncope (hazard ratio 3.85; P = .05). In patients who were asymptomatic at presentation, the median annual rate of life-threatening arrhythmias is 0.24% over 5 years and increases to 1.2% if they have inducible ventricular fibrillation during programmed ventricular stimulation., Conclusion: In patients with drug-induced type 1 Brugada ECG, the annual risk of life-threatening arrhythmias is low, with the SCN5A mutation as the only independent predictor. Unexplained syncope correlated with worse clinical outcomes. Ventricular fibrillation inducibility at programmed ventricular stimulation significantly increases the median annual rate of life-threatening arrhythmias from 0.24% to 1.2% over 5 years., Competing Interests: Disclosures The authors have no conflicts of interest to disclose., (Copyright © 2024 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.)

Telemedicine and remote monitoring devices, including implantable loop recorders (ILR), are increasingly adopted in the cardiologic setting. These are valuable tools in the arrhythmic stratification of patients at risk of sudden cardiac death, providing a tailored therapeutic management to prevent lethal arrhythmias. We report a case of an asymptomatic 18-year-old boy with a family history of syncope and cardiac arrest, who had a diagnosis of Brugada syndrome with an inducible type 1 pattern and carrier of a missense mutation of the SCN5A gene. In light of the risk factors, although not recommended by current guidelines, we decided to proceed with the implantation of an ILR with remote monitoring service. A few months later, an episode of asymptomatic sustained polymorphic ventricular tachycardia was promptly observed by the remote monitoring, leading to a timely implantation of a subcutaneous cardiac implantable defibrillator.

Background and Aims: Available data on continuous rhythm monitoring by implantable loop recorders (ILRs) in patients with Brugada syndrome (BrS) are scarce. The aim of this multi-centre study was to evaluate the diagnostic yield and clinical implication of a continuous rhythm monitoring strategy by ILRs in a large cohort of BrS patients and to assess the precise arrhythmic cause of syncopal episodes., Methods: A total of 370 patients with BrS and ILRs (mean age 43.5 ± 15.9, 33.8% female, 74.1% symptomatic) from 18 international centers were included. Patients were followed with continuous rhythm monitoring for a median follow-up of 3 years., Results: During follow-up, an arrhythmic event was recorded in 30.7% of symptomatic patients [18.6% atrial arrhythmias (AAs), 10.2% bradyarrhythmias (BAs), and 7.3% ventricular arrhythmias (VAs)]. In patients with recurrent syncope, the aetiology was arrhythmic in 22.4% (59.3% BAs, 25.0% VAs, and 15.6% AAs). The ILR led to drug therapy initiation in 11.4%, ablation procedure in 10.9%, implantation of a pacemaker in 2.5%, and a cardioverter-defibrillator in 8%. At multivariate analysis, the presence of symptoms [hazard ratio (HR) 2.5, P = .001] and age >50 years (HR 1.7, P = .016) were independent predictors of arrhythmic events, while inducibility of ventricular fibrillation at the electrophysiological study (HR 9.0, P < .001) was a predictor of VAs., Conclusions: ILR detects arrhythmic events in nearly 30% of symptomatic BrS patients, leading to appropriate therapy in 70% of them. The most commonly detected arrhythmias are AAs and BAs, while VAs are detected only in 7% of cases. Symptom status can be used to guide ILR implantation., (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Introduction: Most patients with Brugada syndrome (BrS) are first diagnosed in their 40s, with sudden cardiac death (SCD) often occurring in their 50s. Ventricular fibrillation (VF) may occur in some patients with BrS despite having been asymptomatic for a long period. This study aimed to assess the incidence and risk factors for late life-threatening arrhythmias in patients with BrS., Methods: Patients with BrS (n = 523; mean age, 51 ± 13 years; male, n = 497) were enrolled. The risk of late life-threatening arrhythmia was investigated in 225 patients who had experienced no cardiac events (CEs: SCD or ventricular tachyarrhythmia) for at least 10 years after study enrollment. The incidence of CEs during the follow-up period was examined., Results: During the follow-up of the 523 patients, 59 (11%) experienced CEs. The annual incidences of CEs were 2.87%, 0.77%, and 0.09% from study enrollment to 3, 3-10, and after 10 years, respectively. Among 225 patients who had experienced no CEs for at least 10 years after enrollment, four patients (1.8%) subsequently experienced CEs. Kaplan-Meier analysis revealed significant differences in the incidence of late CEs between patients with and without a history of symptoms (p = .032). The positive and negative predictive values of late CEs for the programmed electrical stimulation (PES) test were 2.9% and 100%, respectively., Conclusion: Our results suggest that patients with BrS who are asymptomatic and have no ventricular tachycardia/VF inducibility by PES are at extremely low risk of experiencing late life-threatening arrhythmias., (© 2024 Wiley Periodicals LLC.)

Background: A pathogenic/likely pathogenic variant can be found in 20% to 25% of patients with Brugada syndrome (BrS) and a pathogenic/likely pathogenic variant in SCN5A is associated with a worse prognosis. The aim of this study is to define the diagnostic yield of a large gene panel with American College of Medical Genetics and Genomics variant classification and to assess prognosis of SCN5A and non-SCN5A variants., Methods: All patients with BrS, were prospectively enrolled in the Universitair Ziekenhuis Brussel registry between 1992 and 2022. Inclusion criteria for the study were (1) BrS diagnosis; (2) genetic analysis performed with a large gene panel; (3) classification of variants following American College of Medical Genetics and Genomics guidelines. Patients with a pathogenic/likely pathogenic variant in SCN5A were defined as SCN5A + . Patients with a reported variant in a non-SCN5A gene or with no reported variants were defined as patients with SCN5A - . All variants were classified as missense or predicted loss of function., Results: A total of 500 BrS patients were analyzed. A total of 104 patients (20.8%) were SCN5A + and 396 patients (79.2%) were SCN5A - . A non-SCN5A gene variant was found in 75 patients (15.0%), of whom, 58 patients (77.3%) had a missense variant and 17 patients (22.7%) had a predicted loss of function variant. At a follow-up of 84.0 months, 48 patients (9.6%) experienced a ventricular arrhythmia (VA). Patients without any variant had higher VA-free survival, compared with carriers of a predicted loss of function variant in SCN5A + or non-SCN5A genes. There was no difference in VA-free survival between patients without any variant and missense variant carriers in SCN5A + or non-SCN5A genes. At Cox analysis, SCN5A + or non-SCN5A predicted loss of function variant was an independent predictor of VA., Conclusions: In a large BrS cohort, the yield for SCN5A + is 20.8%. A predicted loss of function variant carrier is an independent predictor of VA., Competing Interests: Disclosures Dr La Meir is consultant for Atricure. Dr Brugada received compensation for teaching purposes from Biotronik. Dr Battista Chierchia received compensation for teaching purposes and proctoring from Medtronic, Abbott, Biotronik, Boston Scientific, Acutus Medical. Dr de Asmundis receives research grants on behalf of the center from Biotronik, Medtronic, Abbott, LivaNova, Boston Scientific, AtriCure, Philips, and Acutus; Dr de Asmundis received compensation for teaching purposes and proctoring from Medtronic, Abbott, Biotronik, Livanova, Boston Scientific, Atricure, Acutus Medical Daiichi Sankyo. The other authors report no conflicts.

Background: Brugada syndrome (BrS) is characterized by ST-segment elevation in the right precordial leads, which is not explained by ischemia, electrolyte disturbances, or obvious structural heart disease., Aim: In present study, we aim to evaluate presentation, long-term outcome, genetic findings, and therapeutic interventions in patients with BrS., Methods: Between September 2001 and June 2022, all consecutive patients with diagnosis of BrS were enrolled in the present study. All patients gave written informed consent for the procedure, and the local ethical committee approved the study., Results: Of the 76 cases, 79% were proband and 21% were detected during screening after diagnosis of BrS in a family member. Thirty-three (43%) patients had a typical spontaneous electrocardiogram (ECG) pattern. Thirty percent of the patients were symptomatic; symptomatic patients were more likely to have spontaneous type 1 Brugada ECG pattern in their ECGs (p = .01), longer PR interval (p = .03), and SCN5A mutation (p = .01) than asymptomatic patients. The mean PR interval was considerably longer in men than women (p = .034). SCN5A mutation was found in 9 out of 50 (18%) studied patients. Fifteen percent received appropriate implantable cardioverter-defibrillator (ICD) therapy and inappropriate ICD interventions were observed in 17%. Presentation with aborted SCD or arrhythmic syncope was the only predictor of adverse outcome in follow-up (odds ratio: 3.1, 95% confidence interval: 0.7-19.6, p = .001)., Conclusions: Symptomatic patients with BrS are more likely to present with spontaneous type 1 Brugada ECG pattern, longer PR interval, and pathogenic mutation in SCN5A gene. Appropriate ICD interventions are more likely in symptomatic patients and those with SCN5A mutation., (© 2024 Wiley Periodicals LLC.)

A correction is presented to the article "Brugada syndrome and syncope: A systematic review"" which appeared in the previous issue.

The article presents a case study of a 24-years-old man with a family history of sudden death was scheduled for sudden cardiac death screening at our Center after an episode of syncope. Topics include the alterations related to generation and/or conduction of action potentials in the cardiac tissue can result in the origin and propagation of cardiac arrhythmias, and the heritable mutations in genes that encode heart ion channels are the underlying cause of arrhythmias.

A 52‐year‐old male was admitted with unstable angina and three‐vessel coronary artery disease. Electrocardiography (ECG) changes consistent with type‐1 Brugada ECG pattern were noted during admission. The patient was asymptomatic for syncope and had no family history of sudden cardiac death, ICD implantation, and Brugada syndrome. After coronary by‐pass graft the Brugada ECG pattern resolved, and ajmaline test did not elicit type‐1 ECG pattern, confirming the suspicion of Brugada phenocopy. [ABSTRACT FROM AUTHOR]

Introduction: A drug provocation test (DPT) is important for the diagnosis of Brugada syndrome (BrS). The link, however, between dynamic changes of electrocardiography (ECG) features after DPT and unstable ventricular arrhythmia (VA) in BrS remains unknown. Methods: Between 2014 and 2019, we assessed 27 patients with BrS (median age: 37.0 [interquartile range, IQR: 22.0–51.0] years; 25 men), including 9 (33.3%) with a history of unstable VA and 18 (66.7%) without. All patients in the study presented with Brugada‐like ECG features before DPT. The ECG parameters and dynamic changes (∆) in 12‐lead ECGs recorded from the second, third, and fourth intercostal spaces (ICS) before and at 1, 6, 12, 18, and 24 h after DPT (oral flecainide 400 mg) were analyzed. Results: The total amplitude of V1 at the third ICS 18 and 24 h after DPT was significantly lower in patients with a history of unstable VA than in those without. Patients with BrS and unstable VAs had a significantly larger ∆ amplitude of V1 at the second ICS 12 h after DPT than in those without unstable VAs (0.28 [0.18–0.41] mV vs. 0.08 [0.01–0.15] mV, p =.01). A multivariate analysis revealed that the amplitude of V1 at the third ICS 18 and 24 h after DPT and the ∆ amplitude of V1 at the second ICS 12 h after DPT were associated with a history of unstable VA. Conclusion: Nonuniform changes and spatiotemporal differences in precordial ECG features after DPT were observed in patients with BrS and these may be surrogate markers for risk stratification. [ABSTRACT FROM AUTHOR]

Brugada syndrome (BrS) is a sudden cardiac death syndrome characterized by a coved‐type electrocardiogram (ECG). Different disorders, such as ischemia, can emulate a Brugada‐pattern ECG (Brugada phenocopy). We report herein, the first case of surgical epicardial electrophysiological mapping in a successfully resuscitated patient with an anomalous aortic origin of the coronary artery (AAOCA) associated with a coved‐type ECG. It was debatable whether the coved‐type ECG and the abnormal arrhythmogenic substrate in the epicardial right ventricular outflow tract were derived from BrS or from repetitive ischemia due to AAOCA; however, the epicardial electrophysiological mapping helped in deciding the treatment strategy. [ABSTRACT FROM AUTHOR]