HRS Board Review 2025 New Courses (Reviewers Copy)-Workshop 1_Electrocardio_London_2025

Workshop 1_Electrocardio_London_2025_case 8

Video Transcription

Video Summary

The scenario involves Frank, whose father was diagnosed with Brugada syndrome and found to have a pathogenic SCN5A mutation. Frank's genetic test did not show the same mutation. The question asks for possible explanations for Frank's negative genetic test result, excluding one. The options are: A) Brugada syndrome is polygenic, suggesting Frank might have other genetic factors involved, B) incorrect paternity, questioning Frank's biological relation to his father, C) incomplete penetrance, indicating not all carriers exhibit symptoms, and D) the identified variant in Frank's father isn't actually pathogenic. The answer to exclude is B, incorrect paternity.

Keywords

Brugada syndrome

SCN5A mutation

genetic testing

incomplete penetrance

polygenic inheritance