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Mutations in domain III and IV of SCN5a in Tunisian Brugada patients

Background Mutations in the gene SCN5a is the most common genetic cause of Brugada Syndrome (BS), a rare inherited cardiac channelopathy, characterized by ST-segment elevation in the right pericardial leadsV1-V3 and right bundle-branch block. BS presents with syncope and/or cardiac arrest due to ventricular fibrillation in normal structural heart. SCN5a encodes an α-subunit of the cardiac voltage-gated sodium channel (Nav1.5) at 3p21 with 28 exons encoding 2016 amino acids. More than 400 mutations are described and up of 150 mutations are located in domains III and IV of SCN5a. Here, we investigated nine Tunisian families in whom BS has been identified clinically. The aim was the optimisation of a genetic screening method for causative mutation

Author(s):

Nouha Bouayed Abdelmoula

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