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Family screening in a portuguese sample of Brugada Syndrome patients
Session:
Painel 4 - Arritmologia 9
Speaker:
Ana Filipa Abreu Cardoso
Congress:
CPC 2020
Topic:
C. Arrhythmias and Device Therapy
Theme:
08. Ventricular Arrhythmias and Sudden Cardiac Death (SCD)
Subtheme:
08.2 Ventricular Arrhythmias and SCD - Epidemiology, Prognosis, Outcome
Session Type:
Posters
FP Number:
---
Authors:
Ana Filipa Cardoso; Bebiana Faria; Pedro von Hafe; Geraldo Dias; Tamara Pereira; Sílvia Ribeiro; Lucy Calvo; Margarida Oliveira; Marina Fernandes; Victor Manuel Sanfins; António Lourenço
Abstract
<p><strong>Background:</strong> 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.</p> <p><strong>Aim:</strong> To compare index pts to non-index pts identified through systematic FS.</p> <p><strong>Methods: </strong>Single-center retrospective study of BS pts followed by the Arrhythmology Department. FS was offered to 1<sup>st</sup> 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). </p> <p><strong>Results: </strong>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, <em>p <.001</em>), were more often female (57% vs 25%, <em>p<.001</em>), were diagnosed predominantly through provocative test with ajmaline/flecainide (88% vs 47%, <em>p<.001</em>) and had less documented spontaneous type 1 ECG pattern (17% vs 59%, <em>p<.001</em>). A type 2 pattern was identified in 18 (25%) non-index pts.</p> <p>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.</p> <p>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<em> (</em><em>p=.119</em><em>). </em>Non-index pts were less likely to implant a cardioverter-defibrillator <em>(14% vs 38%, </em><em>p=.001</em><em>).</em></p> <p>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 (<em>p=.432</em>). There were no cardiovascular deaths.</p> <p><strong>Conclusions: </strong>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.</p>
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