CO-02
Brugada syndrome: a 9 year retrospective analysis
Maria Lopes-de-Almeida1; Joaquim de Sá1; Teresa Carminho1; Joana Rosmaninho-Salgado1; Ana L Carvalho1,2; Pedro Louro1; Ana Garabal1; Cláudia F Reis1; Renata Oliveira4; Sofia Maia1; Fabiana Ramos1,2; Sérgio B Sousa1,3; Margarida Venâncio1,2; Lina Ramos1,3; Jorge M Saraiva1,2
1Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra
2Faculty of Medicine, University of Coimbra, Coimbra
3Faculty of Medicine, University of Beira Interior, Covilhã ]]>
4Serviço de Genética Humana, Centro Hospitalar de São João, Porto
E-mail: marialopesdealmeida@chuc.min-saude.pt
Brugada syndrome (BrS) is a common familiar arrhythmia syndrome with an estimated prevalence of 1-5 per 10 000 persons. It is characterized by a right ventricular conduction delay, dynamic or persistent ST-segment elevations in the precordial leads V1–3, and an elevated risk of syncope and sudden cardiac death in young adults without structural heart disease.
BrS is an important differential diagnosis for syncope and sudden cardiac death in young adults without structural heart disease.
It is a genetic disease with an autosomal dominant pattern of inheritance and incomplete penetrance. To date, changes in at least 16 genes have been linked with BrS. The Na+ channel gene SCN5A mutations are the most frequent, present in 20% to 30% of patients. The other associated genes represent rare sporadic patients or individual BrS families.
We present a nine year retrospective review (between the years 2006 and 2015) of BrS patients from our Medical Genetic Unit, at a tertiary hospital. The study included 41 families, a total of 63 patients, 41 males (65%). Twenty-two out of forty-one families have a clinical diagnose without molecular confirmation (54%) and four families (a total of 15 patients) had molecular confirmation (9,8%), all in SCN5A gene. Eight patients were observed due to BrS family history and seven patients following diagnostic suspicion.
Confronting our results with the literature, our molecular confirmation rate is below the expected. We would like to discuss what could justify this findings and what could be done in order to improve the outcome.
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