(FIT)-Module 1, Workshop 1: Electrocardiographic/Electrophysiologic Correlation-London Case 3 Answer

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Joe's brother should be tested using a long QT gene panel, as genetic testing has clinical benefits and can guide family follow-up. If a mutation is identified, Joe and his children can be tested. Testing is done using gene panels or exome sequencing targeting known affected genes. Genotype-positive individuals, even if asymptomatic, may benefit by avoiding certain drugs and considering prevention therapies like beta-blockers. Initial testing should occur in definitively affected individuals due to genetic testing's 50-60% sensitivity. Identifying a mutation triggers cascade screening for first-degree relatives. Whole exome sequencing discovers new genes but isn't clinical testing.

Keywords

Long QT syndrome

Genetic testing

Gene panels

Cascade screening

Beta-blockers