Brugada syndrome (BrS) is an inherited cardiac arrhythmia that may lead to 
sudden death in patients with structurally normal heart. Mutations in the alpha 
subunit of the cardiac sodium channel SCN5A gene are found in approximately 20% 
of cases. We clinically evaluated and genetically screened 7 patients that fully 
satisfied the clinical diagnostic criteria for the syndrome and 8 patients with 
a partial clinical diagnosis, for mutations in the SCN5A gene in order to 
explore the genetic status of BrS patients from Greece for whom there are no 
published data available. Genetic testing was positive in 3 out of the 7 
patients with a definite diagnosis. The probands carried 1 nonsense (p.Trp301X) 
and 2 missense (p.Ala1949Pro and p.Arg808Cys) mutations. All 3 mutations were 
novel. Furthermore, genetic testing was negative in all 8 clinically suspected 
cases. Additionally, 10 single nucleotide polymorphisms (SNPs) were detected, 2 
of which are novel. We report on the genetic status of BrS patients of Greek 
origin amongst whom novel SCN5A mutations were a frequent underlying cause of 
the syndrome.