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

Video Transcription

Video Summary

Frank, a first-degree relative of a Brugada syndrome patient, shows signs of the condition despite not carrying his father's known mutation. Brugada syndrome can be polygenic, suggesting Frank's condition may arise from unidentified mutations. While genetic testing is not foolproof, it's unlikely Frank has a different father, as Brugada syndrome is rare. Incomplete penetrance, where a mutation doesn't lead to observable symptoms, is common, but Frank's case involves having the disease phenotype without the father's mutation, indicating alternative genetic explanations beyond what's currently identifiable.

Keywords

Brugada syndrome

polygenic inheritance

genetic testing limitations

incomplete penetrance

alternative genetic mutations