Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population

Figures

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  Figure 1. Flowchart of data collection and research process. BrS = Brugada syndrome; ECG = electrocardiogram; VT = ventricular tachycardia; VF = ventricular fibrillation; SCD = sudden cardiac death; and MAF = minor allele frequency.

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  Figure 2. Waterfall plot and needle plot of the variants in genes associated with BrS. (A) A summary waterfall plot of variants in BrS-susceptibility genes. Each column represents 1 of the individuals, and each row represents a gene. The bar plot on the top shows the number of variants in each individual. The bar plot on the right shows the number of individuals containing a variant in each gene. (B) The variants needle plot of the SCN5A at the protein level across the BrS patients. A premature stop is symbolized by a black circle, whereas a green circle denotes an altered amino acid. BrS = Brugada syndrome; ECG = electrocardiogram; P/LP = patients with pathogenic or likely pathogenic mutations; and VUS = patients with uncertain significance variants.

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  Figure 3. Representative cases of BrS with novel likely pathogenic or pathogenic mutations. (A–D) Each panel shows an electrocardiogram of BrS cases carrying novel mutations. (E–H) All 4 novel mutations of BrS identified in the study were validated by Sanger sequencing. (I) Pedigree of a representative family (Case 4) with SCN5A likely pathogenic mutation. (J) An electrocardiogram of the son of case 4. (K) The schematic structure and details of D372H in SCN5A was predicted with Missense3D. BrS = Brugada syndrome; and AVB = atrioventricular block.