Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene

Figures

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  Figure 1. Identification of the c.1111C>T (p.Gln371*) heterozygous nonsense mutation in the SCN5A gene by Sanger sequencing. The red star indicates the location of the mutation (A) Sample SL2032 (II-4) (proband) harboring the familial variant in heterozygosis (in accordance with IUPAC nomenclature, “Y” is used as the ambiguous code to describe the simultaneous presence of both the wild type C and mutant T peaks). (B) Sample SL2033 (II-5) resulted negative for the mutation.

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  Figure 2. Electrocardiogram (ECG) at baseline, after ajmaline administration, ventricular tachycardia/fibrillation (VT/VF) inducibility during electrophysiological study (EPS). (A) Proband. (B) Proband’s cousin, family member II-1.

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  Figure 3. Epicardial arrhythmogenic substrate and duration of fragmented potentials in the proband at baseline, after the administration of ajmaline, and after ablation. PDM: potential duration map.

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  Figure 4. (A) Family pedigree. Proband identified with arrow. Square: male; circle: female; shaded background: ajmaline positive or spontaneously occurring type one Brugada syndrome (BrS) ECG pattern; lined bottom left corner: BrS clinically suspected; star: molecularly confirmed SCN5A variant; star with slash: genetic test for SCN5A variant performed but negative; y: years old at first diagnosis. (B) Atrioventricular nodal reentrant tachycardia of Patient III-1 detected by loop recorder. (C) Sinus node arrest associated with syncope in Patient III-1 detected by loop recorder. (D) Sinus node arrest associated with dizziness during fever in Patient III-1 detected by loop recorder.