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Brugada syndrome is an inherited disease which may cause sudden cardiac death.

Brugada syndrome, described in 1992, is characterized by the presence of electrocardiographic changes (ST-segment elevation in leads V1-3) without structural heart disease. It is a major cause of sudden death, mainly by polymorphic ventricular tachycardia (DVT), with an incidence of 26-38/100 000 people / year. Although the average age of onset of events is around 40 years, sudden death can affect people of any age, especially men (75%). Of the affected patients, between 20% and 50% have a family history of sudden death.

Brugada syndrome is an autosomal dominant disease transmission and variable penetrance. Between 20% and 25% of patients with Brugada syndrome have mutations in the SCN5A gene. Mutations lead to premature closure or failure to activate the sodium channel, leading to a loss of channel function. Other less common gene responsible for Brugada syndrome are:
• GPD1-L: It has been shown that the gene mutation GPD1-L reduces the expression of the membrane surface and decreases the inward sodium current. Furthermore, GPD1-L has been shown to be the cause of some of sudden deaths in infants.
• CACNA1C: Responsible for the generation of defective alpha unit of L-type calcium channels This induces a loss of channel function, linked to the Brugada syndrome combination with shorter QT interval. The transmission is an autosomal dominant pattern.
• CACNB2b: Gene leading to a defect in the L-type calcium channel, leading to a combination of Brugada syndrome shorter QT intervals.
Recently, mutations in the genes SCN1B, SCN3B and KCNE3 also been associated with Brugada syndrome. These have a very low prevalence.

More than 300 mutations, distributed among several genes have been found, pointing to genetic heterogeneity. In addition to mutations, several polymorphisms have been described that affect the function of sodium channels and may explain the different clinical phenotypes and increased incidence of Brugada syndrome in certain geographical regions, such as Southeast Asia, with an incidence very High of sudden death due to Brugada syndrome has been reported.

Cardiovascular Genetics Center
IDIBGI C/ Dr Castany s/n
Parc Hospitalari Martí i Julià (M-2)
17290 Salt, Girona
Tel: 872 987087