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

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Video Summary

Frank has no evidence of Long QT syndrome, despite carrying the SCN5A mutation, likely due to compensatory factors, illustrating incomplete penetrance. Although at risk, he currently doesn't exhibit the syndrome. His EKG shows an incidental old myocardial infarction, suggesting coronary disease is a more immediate threat, requiring further cardiac testing and risk management. To mitigate Long QT risk, he should avoid QT-prolonging drugs. Frank's children have a 50% chance of inheriting the mutation and should undergo genetic and clinical screening. Reporting of mutations is mandatory for 73 specific genes when performing whole exome or genome sequencing.

Keywords

Long QT syndrome

SCN5A mutation

incomplete penetrance

myocardial infarction

genetic screening