Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome

Brugada syndrome (BrS) is a life-threatening arrhythmia disorder associated with autosomal-dominant mutations in the SCN5A gene. We aimed to characterize the diagnostic challenges and clinical manifestations of a novel SCN5A mutation associated with BrS.

Detalhes bibliográficos
Autor principal: Santos, L. F. (author)
Outros Autores: Rodrigues, B. (author), Moreira, D. (author), Correia, E. (author), Nunes, L. (author), Costa, A. (author), Elvas, L. (author), Pereira, T. (author), Machado, J. C. (author), Castedo, S. (author), Henriques, C. (author), Matos, A. (author), Santos, J. O. (author)
Formato: article
Idioma:eng
Publicado em: 2017
Assuntos:
Brugada Syndrome
SCN5A mutation
ECG
SAECG
Diagnostic criteria
Sudden cardiac death
Texto completo:http://hdl.handle.net/10400.19/4382
País:Portugal
Oai:oai:repositorio.ipv.pt:10400.19/4382
Descrição
Resumo:Brugada syndrome (BrS) is a life-threatening arrhythmia disorder associated with autosomal-dominant mutations in the SCN5A gene. We aimed to characterize the diagnostic challenges and clinical manifestations of a novel SCN5A mutation associated with BrS.

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