ORAL COMMUNICATION / COMUNICAÇÃO ORAL

 

CO-02

Brugada syndrome: a 9 year retrospective analysis

 

 

Maria Lopes-de-Almeida¹; Joaquim de Sá¹; Teresa Carminho¹; Joana Rosmaninho-Salgado¹; Ana L Carvalho^1,2; Pedro Louro¹; Ana Garabal¹; Cláudia F Reis¹; Renata Oliveira⁴; Sofia Maia¹; Fabiana Ramos^1,2; Sérgio B Sousa^1,3; Margarida Venâncio^1,2; Lina Ramos^1,3; Jorge M Saraiva^1,2

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.