PMC6565861_01
Proband ECG and potential duration map at baseline, after ajmaline administration, and after ablation.
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F1
Thereafter, he underwent catheter ablation of AVNRT, and the AS responsible for BrS (Figure 1).
(A) Identification of the heterozygous c.4700_4701del deletion by next generation sequencing. NGS paired-end reads loaded in the IGV genome browser. The gene sequence is in the reverse orientation on the chromosome. (B) Identification of the heterozygous c.4700_4701del deletion by sanger sequencing. Sanger sequencing confirmation of the deletion compared with the wild-type sequence. The wt (black) and mutated (red) sequences are reported. The position of the two bases deleted is indicated by the red arrow. Black arrows indicate the direction of the gene. (C) Family pedigree. Proband identified with an arrow. Square: male; Circle: female; Shaded: clinically affected by Brugada syndrome; Star: molecularly confirmed SCN5A mutation: Triangle: genetically tested and negative for SCN5A mutation.
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F2
Genetic testing revealed the variant c.4700_4701del (p.Phe1567Cysfs*221) in a single copy of the SCN5A gene (Figure 2).
PMC6565861_02
(A) Identification of the heterozygous c.4700_4701del deletion by next generation sequencing. NGS paired-end reads loaded in the IGV genome browser. The gene sequence is in the reverse orientation on the chromosome. (B) Identification of the heterozygous c.4700_4701del deletion by sanger sequencing. Sanger sequencing confirmation of the deletion compared with the wild-type sequence. The wt (black) and mutated (red) sequences are reported. The position of the two bases deleted is indicated by the red arrow. Black arrows indicate the direction of the gene. (C) Family pedigree. Proband identified with an arrow. Square: male; Circle: female; Shaded: clinically affected by Brugada syndrome; Star: molecularly confirmed SCN5A mutation: Triangle: genetically tested and negative for SCN5A mutation.
fgene-10-00547-g002.jpg
PMC6565861_02_fgene-10-00547-g002.jpg
F2
Genetic testing revealed the variant c.4700_4701del (p.Phe1567Cysfs*221) in a single copy of the SCN5A gene (Figure 2).
Father of the proband: ECG at baseline, after ajmaline administration, VT/VF inducibility during EPS. Epicardial arrhythmogenic substrate.
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F3
The patient was inducible during EPS (Figure 3). Thus, the patient underwent an ICD implantation, AS ablation (Figure 3), and was referred for genetic counseling.
PMC6565861_03
Sister of the proband: ECG at baseline and after ajmaline administration. Epicardial arrhythmogenic substrate.
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F4
AS ablation was performed (Figure 4).