Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

<div>(a) Family map: black carries SCN5A (NM_000335.5) at c.4313dup (p.Trp1439ValfsTer32) mutation, the arrow is the proband, squares indicate males, and circles indicate females. (b) The proband (II1) 24 h ambulatory ECG: sinus rhythm; frequent ventricular extrasystole; intermittent first-degree atrioventricular block; intermittent abnormal ventricular repolarization (brugada wave in lead V1); continuous heart rate deceleration suggests moderate risk. (c) Sanger sequence diagram: c.4313dup (p.Trp1439ValfsTer32) mutant appeared in exon 25 of SCN5A gene. (d) Corresponding wild-type (WT).</div>

Cardiology Research and Practice

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Figure 1

Figure 1: Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A 