Brugada syndrome: current concepts and genetic background

Brugada syndrome (BrS) is a hereditary clinical-electrocardiographic arrhythmic entity with low worldwide prevalence. The caused by changes in the structure and function of certain cardiac ion channels reduced expression Connexin 43 (Cx43) Right Ventricle (RV), predominantly Ventricular Outflow Tract (VSVD), causing electromechanical abnormalities. diagnosis based on presence spontaneous or medicated ST elevation, characterized boost J point segment ≥2 mm, superior convexity "hollow type" (subtype 1A) descending rectilinear model 1B). BrS associated an increased risk syncope, palpitations, chest pain, convulsions, difficulty breathing (nocturnal agonal breathing) and/or Sudden Cardiac Death (SCD) secondary to PVT/VF, unexplained arrest documented PVT/VF Paroxysmal atrial fibrillation (AF) absence apparent macroscopic structural heart disease, electrolyte disturbance, use medications coronary disease fever. In less than three decades since discovery syndrome, concept Mendelian heredity has come undone. enormous variants mutations found mean that we are still far from being able concretely clarify genotype-phenotype relationship. There no doubt oligogenetic, environmental factors, there uncertain significance, especially rare SCN5A mutation, European Japanese ancestors, as well type 1 induced pattern, thanks gnomAD (coalition) researchers who seek aggregate harmonize exome genome sequencing data variety large scale projects make summary available scientific community at large). Thus, believe this depth analytical study countless attributed may constitute real cornerstone will help better understand intriguing syndrome.