Study population
A total of 138 patients were enrolled and their demographic
characteristics are summarized in Table 1. Overall patients had a mean
age at enrolment of 41.4 ± 15 years; most patients were men (n=101;
73.2%) and probands (n=109; 79%). Spontaneous type-1 Brugada pattern
was observed in 107 (77.5%) patients; among overall patients, 87 out of
130 patients (66.9%) were diagnosed using the HPL.
Programmed electrical stimulation was performed in 92 patients, 81/116
(69.8%) in the symptomatic group and 11/22 (50%) in the asymptomatic
group (p=0.070); 29 out of 92 patients (31.5%) met the criteria for
inducibility.
Next generation sequencing was performed in 67 out of 109 probands
(61.5%). Fifteen probands (22.4%) were carriers of a SCN5A variant (10
pathogenic and 5 likely-pathogenic variants). There were also 7 other
probands carriers of SCN5A variants classified as of uncertain
significance and 1 of SCN1B variant classified as of uncertain
significance.