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

Video Transcription

Case A. Frank is a 25-year-old who comes to you after his father had a cardiac arrest, was resuscitated, diagnosed with Brugada syndrome, and had a defibrillator implanted.  Genetic testing identified a pathogenic mutation in SCN5A in his father. Frank's ECG is shown below.  Earlier testing showed that Frank does not carry the mutation identified in his father. This is Frank's ECG.  Possible explanations for Frank's negative genetic test include all of the following except, A, Brugada syndrome is polygenic, B, Frank is not his father's biological son,  incorrect paternity, C, incomplete penetrance, and D, the variant identified in Frank's father is not actually a pathogenic mutation that causes Brugada syndrome.

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