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.

Bibliographic Details
Main Author: Santos, L. F. (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2017
Subjects:
Brugada Syndrome
SCN5A mutation
ECG
SAECG
Diagnostic criteria
Sudden cardiac death
Online Access:http://hdl.handle.net/10400.19/4382
Country:Portugal
Oai:oai:repositorio.ipv.pt:10400.19/4382
Description
Summary: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.

Similar Items