Cardiac electrophysiology and arrhythmias

Cardiac electrophysiology investigates how electrical signals are generated and propagated through the heart, with particular focus on the ion channels and calcium-handling proteins that keep the heartbeat precisely timed. When these mechanisms malfunction — due to inherited mutations in genes encoding proteins like the ryanodine receptor, or through acquired remodeling of ion-channel expression — the result can be life-threatening rhythm disorders such as Long-QT Syndrome, Brugada Syndrome, and sudden cardiac death. Researchers are working to understand exactly how specific genetic variants disrupt ion-channel function at the molecular level, and how that disruption translates into the electrical instability seen in patients. A central open question is how to use genetic testing and mechanistic insight together to identify which mutation carriers are at genuine risk before a fatal arrhythmia occurs.

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Keywords

ArrhythmiasLong-QT SyndromeSudden Cardiac DeathIon ChannelsCardiac ElectrophysiologyGenetic Testing