[HTML][HTML] Brugada syndrome: clinical and genetic findings

G Sarquella-Brugada, O Campuzano, E Arbelo… - Genetics in …, 2016 - nature.com
G Sarquella-Brugada, O Campuzano, E Arbelo, J Brugada, R Brugada
Genetics in Medicine, 2016nature.com
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and
sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada
type I electrocardiographic pattern in combination with other clinical features. The most
effective approach to unmasking this diagnostic pattern is the use of ajmaline and flecainide
tests, and the most effective intervention to reducing the risk of death is the implantation of a
cardioverter defibrillator. To date, 18 genes have been associated with the disease, with the …
Abstract
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada type I electrocardiographic pattern in combination with other clinical features. The most effective approach to unmasking this diagnostic pattern is the use of ajmaline and flecainide tests, and the most effective intervention to reducing the risk of death is the implantation of a cardioverter defibrillator. To date, 18 genes have been associated with the disease, with the voltage-gated sodium channel α type V gene (SCN5A) being the most common one to date. However, only 30–35% of diagnosed cases are attributable to pathogenic variants in known genes, emphasizing the need for further genetic studies. Despite recent advances in clinical diagnoses and genetic testing, risk stratification and clinical management of patients with Brugada syndrome remain challenging.
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