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. Author manuscript; available in PMC: 2015 Jul 8.
Published in final edited form as: J Am Coll Cardiol. 2014 Jul 8;64(1):66–79. doi: 10.1016/j.jacc.2014.04.032

Figure 1. Representative Cases of the Different Brugada Syndrome (BrS) Phenotypes Associated with the SCN10A Mutations/Rare Variants Identified.

Figure 1

Each panel shows the ECG phenotype, amino acid alignments of the mutated residue position in a number of mammalian species, and DNA chromatogram of wild-type (WT) and mutant SCN10A. For the pedigrees in panels D&E, +/- denotes heterozygous for the mutation; circles represent female subjects and squares represent male subjects. The arrow denotes the proband. Clinically affected and unaffected subjects are labeled as black and white, respectively. CCD: cardiac conduction disease; ERS= early repolarization syndrome; RBBB= right bundle branch block; SCD= sudden cardiac disease.