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

Workshop 1_Electrocardio_London_2025_case 6 answer

Video Transcription

Video Summary

Frank carries an SCN5A mutation linked to Long QT syndrome, but currently shows no symptoms, illustrating incomplete penetrance. He has a normal QTC interval, likely due to compensatory factors. His EKG revealed an incidental old myocardial infarction, indicating coronary disease, which poses a higher risk than potential Long QT syndrome. Further cardiac assessment and risk stratification are advised for Frank, with precautions against QT-prolonging drugs. His children have a 50% chance of inheriting the mutation and should be screened. Reporting mutations in 73 mandatory genes is crucial for diagnosing inherited conditions, even with variable phenotypic expression.

Keywords

SCN5A mutation

Long QT syndrome

incomplete penetrance

coronary disease

genetic screening