(FIT)-Module 1, Workshop 1: Electrocardiographic/Electrophysiologic Correlation-London Case 8 Question

Video Transcription

Video Summary

In the case of Frank, following his father’s diagnosis with Brugada syndrome and the identification of a pathogenic SCN5A mutation, Frank undergoes genetic testing revealing he does not carry the same mutation. The possible explanations for Frank’s negative genetic test include Brugada syndrome being polygenic, incorrect paternity, and incomplete penetrance. The only explanation that is not possible is that the variant identified in Frank’s father is not actually a pathogenic mutation that causes Brugada syndrome, as it was already classified as pathogenic.

Keywords

Brugada syndrome

SCN5A mutation

genetic testing

polygenic inheritance

incomplete penetrance