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

Workshop 1_Electrocardio_London_2025_case 3 answer

Video Transcription

Video Summary

Genetic testing for Long QT syndrome should start with an affected individual using a gene panel. If a mutation is found, family members can be tested to identify those at risk. Testing has a clinical benefit, guiding follow-up and prevention strategies like avoiding certain drugs and using beta blockers for type 1. It begins with affected individuals due to the 50-60% sensitivity of tests. Cascade screening of relatives follows if a mutation is identified. Whole exome sequencing may identify new genes but is not used clinically. Joe's brother shows clinical symptoms, but Joe could be a carrier or unaffected.

Keywords

Long QT syndrome

genetic testing

cascade screening

mutation identification

clinical prevention