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

Workup for Suspected Brugada Syndrome: Two Case Reports for the General Practitioner

“…Primary care providers (PCPs) serve a vital role in the prevention of cardiac disease. In both the adult and pediatric domains, it is recommended that PCPs focus cardiac screening on risk factors and family history of any cardiac abnormalities [6,12,13]. The American Academy of Pediatrics specifically recommends screening for family history of sudden cardiac death or sudden cardiac arrest for primary prevention [6].…”