Family screening in brugada syndrome patients

Abstract Background Brugada syndrome (BS) is a rare inherited channelopathy associated with sudden cardiac death (SCD) and family screening (FS) of index patients (pts) recommended. However, data about pts identified through FS lacking. Aim To compare to non-index systematic FS. Methods Single-center retrospective study BS followed by the Arrhythmology Department. was offered 1st degree relatives all primary care services once-weekly voluntary open appointment. Genetic counselling performed when indicated. Index were compared regarding baseline characteristics events during follow-up (syncope probable arrhythmic origin, ventricular tachycardia/ventricular fibrillation (VT/VF) SCD). Results We included 165 (61% males, mean age 47±15 years) 72 (44%) Non-index diagnosed at younger (42±14 vs 51±14 years, p <.001), more often female (57% 25%, p<.001), predominantly provocative test ajmaline/flecainide (88% 47%, p<.001) had less documented spontaneous type 1 ECG pattern (17% 59%, p<.001). A 2 in 18 (25%) pts. testing 38 (53%) pts: 6 pathogenic SCN5A mutation, likely mutation 12 uncertain significance. At diagnosis, 24 (33%) history syncope, 3 (4%) nocturnal agonal respiration 11 (15%) palpitations no differences between both groups (p=.119). implant cardioverterdefibrillator (14% 38%, p=.001). During median 28 (IQR 16–41) months, 10 (6%) an event - (3%) group (2 syncope) 8 (9%) (1 syncope; 7 VT/VF) significative (p=.432). There nocardiovascular deaths. Conclusions considerable proportion time diagnosis pattern. No found pts, however, rate low. Systematic can identify individuals risk SCD earlier, allowing close monitoring and, indicated, appropriate treatment. Funding Acknowledgement Type funding sources: None.