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

Workshop 1_Electrocardio_London_2025_case 8 answer

Video Transcription

Video Summary

Frank carries the diagnosis of Brugada syndrome despite not inheriting his father's known mutation because he has a spontaneous type 1 ECG pattern. This suggests that Brugada syndrome, often polygenic, might involve other unidentified genetic factors. Genetic testing might miss certain mutations or inaccurately label some as non-pathogenic. Frank possibly inherited a different mutation from his father, or less likely, coincidentally developed Brugada syndrome. Incomplete penetrance doesn't fully explain this scenario, as it would involve Frank having a mutation but with a normal ECG, which is not the case here. Carrier testing remains relevant for family insights.

Keywords

Brugada syndrome

spontaneous ECG pattern

genetic factors

mutation inheritance

carrier testing