Brugada syndrome: current diagnostics, epidemiology, genetic data and novel mechanisms (RCD code: V-1A.1)

Abstract

Brugada syndrome (BrS) is a cardiac channelopathy associated with ventricular arrhythmias and sudden cardiac death. Diagnosis of BrS is based on type 1 BrS electrocardiogram (ECG) pattern (coved pattern) presence, observed spontaneously or after provocation test. The worldwide prevalence of BrS ECG patterns is estimated to reach 0.4% and strongly depends on the population studied. BrS results from various genetic mutations of sodium, calcium and potassium channels and/or associated proteins affecting ion currents. SCN5A mutations are the most prevalent in BrS. Pathogenesis of BrS is explained by the depolarization theory, the repolarization theory and the neural crest theory, which seem to be complimentary, at least partially. This review summarizes current diagnostic criteria of BrS and epidemiology of BrS ECG patterns. We also discuss the recent understanding of BrS pathophysiology and the role of genetic testing in BrS. JRCD 2017; 3 (3): 73-80

Clinical Classification of Rare Cardiovascular Diseases and Disorders: 2018 Update

“…In class VI of the current classification of RCDD, we provide 2 groups of RADA: Primary electrical disorders of the heart and arrhythmias in specific clinical settings. The first group includes not only cardiac channelopathies, such as Brugada syndrome, long QT syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia, [61][62] [9,[63][64][65][66][67][68] but also among others, congenital complete heart block. [69] The presence of cardiac arrhythmias in different clinical settings is common.…”

Pathogenesis and Management of Brugada Syndrome: Recent Advances and Protocol for Umbrella Reviews of Meta-Analyses in Major Arrhythmic Events Risk Stratification

“…However, the description of the electrocardiographic (ECG) changes considered today as type 1 BrS ECG pattern was first published in 1953 [ 4 ]. The prevalence of individuals with the Brugada ECG patterns differs largely among various regions and populations of the world [ 5 ] and is more common than BrS. Pooled worldwide prevalence of BrS is 0.5 per 1000 [ 6 ] based on ECG patterns, with highest prevalence in Southeast Asia of 3.7 per 1000, reaching up to 17.7 per 1000 in Thailand [ 6 , 7 ].…”

Brugada syndrome: new concepts and algorithms in management (RCD code: V 1A.1)

“…The current criteria of BrS diagnosis and tests which may unmask the BrS ECG pattern have been previously described in detail [2,3]. Indications and contraindications for drug challenge, to unmask the BrS ECG pattern, should be considered before sodium-channel blocker administration.…”