Genetics of Brugada syndrome

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Presentation transcript:

Genetics of Brugada syndrome Jyh-Ming Jimmy Juang, M.D., MS2, Ph.D., Minoru Horie Journal of Arrhythmia Volume 32, Issue 5, Pages 418-425 (October 2016) DOI: 10.1016/j.joa.2016.07.012 Copyright © 2016 Japanese Heart Rhythm Society Terms and Conditions

Fig. 1 An example of a representative multi-generation pedigree displaying incomplete penetrance (33%) and variable expressivity as some individuals display Brugada ECG without any cardiac events. Journal of Arrhythmia 2016 32, 418-425DOI: (10.1016/j.joa.2016.07.012) Copyright © 2016 Japanese Heart Rhythm Society Terms and Conditions

Fig. 2 The flowchart for differentiating congenital BrS from acquired BrS before conducting genetic tests. Journal of Arrhythmia 2016 32, 418-425DOI: (10.1016/j.joa.2016.07.012) Copyright © 2016 Japanese Heart Rhythm Society Terms and Conditions

Fig. 3 Schematic representation of a cardiomyocyte exhibiting the proteins involved in Brugada syndrome pathogenesis. Journal of Arrhythmia 2016 32, 418-425DOI: (10.1016/j.joa.2016.07.012) Copyright © 2016 Japanese Heart Rhythm Society Terms and Conditions

Fig. 4 Genes associated with Brugada syndrome (BrS) and other inherited arrhythmia diseases. Journal of Arrhythmia 2016 32, 418-425DOI: (10.1016/j.joa.2016.07.012) Copyright © 2016 Japanese Heart Rhythm Society Terms and Conditions