PMC3946469_01
(A and B): 12 lead initial ECG taken on 26/11/2011 showing type 1 Brugada pattern (A) and highlighted ST segment elevation (coving type) in leads V1, V2 and V3 taken on 27/11/2011 (B).
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He had no history of night terror or agonal respiration. His initial ECG showed down sloping ST segment elevation in V1, V2 and V3 leads consistent with type 1 Brugada ECG (Fig. 1A and B).
DNA sequencing showing mutation in SCN5A gene within exon 15 of chromosome 3 with a genetic variation of D785N and a nucleotide change at 2353G-A.
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Genetic diagnosis was done at the Ramon Brugada Sr. foundation, Cardiovascular Genetics Centre of Girona, Spain, that revealed a novel missense mutation in SCN5A gene within exon 15 of chromosome 3 with a genetic variation of D785N and a nucleotide change at 2353G-A (Fig. 2).