(FIT)-Module 1, Workshop 1: Electrocardiographic/Electrophysiologic Correlation-London Case 6 Question

Video Transcription

Video Summary

Frank, a 45-year-old man with no medical history, was found to carry a mutation in the cardiac sodium channel (SCN5A or NAV1.5) after testing due to findings in his daughter. His ECG does not show long QT syndrome, and he is asymptomatic with a normal cardiac exam. The options for advice include: A) treating him based on ECG findings, B) conducting further cardiac testing despite no long QT evidence, C) considering his case as incomplete penetrance with no further action needed, D) questioning the mutation's link to long QT syndrome, or E) deciding against more genetic screening for his family.

Keywords

SCN5A mutation

cardiac sodium channel

long QT syndrome

asymptomatic patient

genetic testing