We aim to study the SCN5A gene in a cohort of Brugada syndrome (BS) patients and 
evaluate the genotype-phenotype correlation. BS is caused by mutations in up to 
10 different genes, SCN5A being the most frequently involved. Large genomic 
rearrangements in SCN5A have been associated with conduction disease, but its 
prevalence in BS is unknown. Seventy-six non-related patients with BS were 
studied. Clinical characteristics and family risk profile were recorded. Direct 
sequencing and multiplex ligation-dependent probe amplification (MLPA) of the 
SCN5A gene for identification of mutations and larger rearrangements were 
performed, respectively. Eight patients (10.5%) had point mutations (R27H, 
E901K, G1743R (detected in three families), V728I, N1443S and E1152X). Patients 
with mutations had a trend toward a higher proportion of spontaneous type I 
Brugada electrocardiogram (ECG) (87.5% vs 52.9%, p = 0.06) and had evidence of 
familial disease (62.5%, vs 23.5%, p = 0.03). The symptoms and risk profile of 
the carriers were not different from wild-type probands. There were 
non-significant differences in the prevalence of type I ECG, syncope and history 
of arrhythmia in carriers of selected polymorphisms. None of the patients had 
any deletion/duplication in the SCN5A gene. In conclusion, 10.5% of our patients 
had mutations in the SCN5A gene. Patients with mutations seemed to have more 
spontaneous type I ECG, but no differences in syncope or arrhythmic events 
compared with patients without mutations. Larger studies are needed to evaluate 
the role of polymorphisms in the SCN5A in the expression of the phenotype and 
prognosis. Large rearrangements were not identified in the SCN5A gene using the 
MLPA technique.