HRCR Rare Diseases Article Collection
- Brugada syndrome (BrS) is an inherited channelopathy linked to an increased risk of developing malignant ventricular arrhythmias and sudden cardiac death in otherwise healthy individuals.1 Currently, implantable cardioverter-defibrillator (ICD) is still the mainstay of treatment for BrS,1 but for patients experiencing recurrent ICD shocks despite optimal medical therapy, radiofrequency (RF) transcatheter ablation of the arrhythmogenic substrate is an available option with promising results.2–5 Although there is a generalized consensus in considering the right ventricular outflow tract (RVOT) epicardium as the locus harboring the pathologic substrate, the exact pathogenesis of BrS is still a matter of debate.
- Since its first description in 1992,1 Brugada syndrome (BrS) has claimed global attention as a remarkable cause of sudden cardiac death in young and otherwise healthy adults because of malignant ventricular tachyarrhythmias (mVT).1,2
- Takotsubo cardiomyopathy (TTC) is a stress cardiomyopathy characterized by transient left ventricular dysfunction.1 TTC typically presents in postmenopausal women and is triggered by physical or emotional stress, most likely owing to an increased sympathetic activity.1 Symptoms resemble those of an acute myocardial infarction and the patients often present with various electrocardiogram (ECG) changes proposing an alteration in cardiac repolarization.2 Previously, familial clustering of TTC has been described, suggesting a genetic predisposition to TTC.
- Brugada syndrome (BrS) is an inherited disorder usually afflicting patients with otherwise structurally normal hearts. Many triggers have been identified that can result in the phenotypic expression of the higher-risk BrS type 1 pattern. These triggers include but are not limited to fever, heightened vagal tone, and sodium (Na) channel blocking agents. Conversion to the type 1 pattern during exercise is unusual and in fact isoproterenol is a treatment for ventricular tachycardia (VT) storm in Brugada syndrome.
- Brugada syndrome (BrS) patients are regarded as a high-risk population under the COVID-19 pandemic because infection-induced fevers may unmask a type 1 Brugada electrocardiogram (ECG) pattern potentially leading to lethal ventricular arrhythmias.1 Vaccinations seem to be crucial in BrS patients; however, careful observation and antipyretic drugs are necessary for vaccine-induced fevers.2 Among the enormous number of COVID-19 vaccinations around the world, although the incidence is rare, death events, including sudden cardiac death, after a vaccination have been reported.
- Brugada syndrome, traditionally described as a channelopathy affecting transmembrane sodium current, has been recognized as a structural disease affecting the epicardial right ventricular outflow tract (RVOT).1–3 This observation has been the basis for successful arrhythmic substrate ablation in these patients, with resolution of the Brugada pattern in the anterior precordial leads reported as a reliable procedural endpoint.4,5 However, the typical precordial electrocardiogram (ECG) pattern is obscured in patients with concomitant left bundle branch block (LBBB),6 making this a challenging observation in such patients.