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Brugada syndrome (BrS) is a rare autosomal dominant mutation affecting sodium channels. Electrocardiography can show two Brugada patterns (BrP). Type 1 BrP usually causes sudden cardiac arrest (SCA). Type 2 BrP can appear during circumstances that result in delayed sodium channel opening, such as fever, pneumonia, or use of sodium channel blockers....
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Background
Diagnosis of Brugada syndrome (BrS) may be established by exposing a Type 1 Brugada pattern using a sodium channel blocker. Data on the outcomes of different patient populations with drug‐induced Type 1 Brugada pattern are limited. The present study reports on the characteristics and outcome of subjects with ajmaline induced Type 1 Bruga...
Short QT (SQT) syndrome is a genetic cardiac disorder characterized by an abbreviated QT interval of the patient’s electrocardiogram. The syndrome is associated with increased risk of arrhythmia and sudden cardiac death and can arise from a number of ion channel mutations. Cardiomyocytes derived from induced pluripotent stem cells generated from SQ...
Background
Discovering concomitant diagnoses results in a challenge to determine the true cause of a patient’s presentation. Evaluating this fully is vital to plan appropriate and avoid inappropriate therapy.
Case summary
A 55-year-old gentleman presents in cardiac arrest whilst watching an unusual occurrence of England dominating a Football World...
Ajmaline is an anti-arrhythmic drug that is used to unmask the type-1 Brugada syndrome (BrS) electrocardiogram pattern to diagnose the syndrome. Thus, the disease is defined at its core as a particular response to this or other drugs. Ajmaline is usually described as a sodium-channel blocker, and most research into the mechanism of BrS has centered...
Aims
To investigate the role of genetic testing in patients with idiopathic atrioventricular conduction disease requiring pacemaker (PM) implantation before the age of 50 years.
Methods and results
All consecutive PM implantations in Southern Switzerland between 2010 and 2019 were evaluated. Inclusion criteria were: (i) age at the time of PM impla...
Citations
... Sporadic cases have been reported. Most of them focused on Brugada Syndrome (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11). Fever can trigger the Brugada-type electrocardiogram (ECG) and increase the propensity for VF in structurally normal hearts. ...
Ventricular fibrillation (VF) is a life-threatening arrhythmia that usually happens in patients with structural heart diseases. However, fever-induced ventricular fibrillation in structurally normal hearts was reported, and the four main diseases associated with these cases were Brugada syndrome, long QT syndrome, idiopathic ventricular fibrillation, and non-cardiovascular diseases. In this review, we analyzed this phenomenon and its clinical characteristics.
... Based on the ECG patterns, BS can be classified into two sub-types; type 1 with a coved ST segment and type 2, which has a saddleback ST segment. Type 1 is associated with most cases of SCD whereas type 2 is seen usually in stressful situations like fever, pneumonia, etc [25]. ...
... Reduced density of Ito channels in the endocardium when compared to epicardium and/ or mid-myocardium results in large Ito current influx in the early repolarization phase resulting in large voltage gradient generating J wave elevation [29]. This J wave elevation results in ventricular fibrillation initiating lifethreatening arrhythmias leading to sudden cardiac death [25][26][27][28][29][30]. In patients with sudden cardiac death, previous standard 12-lead electrocardiogram on review would show J point elevation ≥ 1 mm in ≥ 2 continuous inferior and/or lateral leads [31]. ...
Background
Death from unexpected circulatory arrest within 60 min of onset of symptom is known as sudden cardiac death (SCD). In spite of the advancement in treatment and prevention strategies, SCD remains the most common cause of death worldwide especially in the young.
Main body
This review focuses on highlighting how different cardiovascular diseases contribute to SCD. We discuss the clinical symptoms that the patient experience prior to sudden cardiac arrest and the treatment strategies including pharmacological and surgical treatment.
Conclusions
We conclude that since there are many causes of SCD and very few treatment options, prevention strategies, early detection, and resuscitation of those at greatest risk is important.
... In spite of recent developments in the field of genetics, BrS is often still considered a monogenic Mendelian disease (54) inherited in an autosomal dominant fashion with incomplete penetrance (55)(56)(57)(58). This is mainly due to the description of BrS in a family in which the genetics were consistent with this kind of transmission (59), making SCN5A the only accepted BrS gene (9). ...
The evolution of the current dogma surrounding Brugada syndrome (BrS) has led to a significant debate about the real usefulness of genetic testing in this syndrome. Since BrS is defined by a particular electrocardiogram (ECG) pattern, after ruling out certain possible causes, this disease has come to be defined more for what it is not than for what it is. Extensive research is required to understand the effects of specific individual variants, including modifiers, rather than necessarily grouping together, for example, “all SCN5A variants” when trying to determine genotype-phenotype relationships, because not all variants within a particular gene act similarly. Genetic testing, including whole exome or whole genome testing, and family segregation analysis should always be performed when possible, as this is necessary to advance our understanding of the genetics of this condition. All considered, BrS should no longer be considered a pure autosomal dominant disorder, but an oligogenic condition. Less common patterns of inheritance, such as recessive, X–linked, or mitochondrial may exist. Genetic testing, in our opinion, should not be used for diagnostic purposes. However, variants in SCN5A can have a prognostic value. Patients should be diagnosed and treated per the current guidelines, after an arrhythmologic examination, based on the presence of the specific BrS ECG pattern. The genotype characterization should come in a second stage, particularly in order to guide the familial diagnostic work-up. In families in which an SCN5A pathogenic variant is found, genetic testing could possibly contribute to the prognostic risk stratification.
