4th March 2024

A 23-year-old female presents to the acute medical unit with syncope

A 23-year-old female presents to the acute medical unit with syncope. She recalls playing football and blacked out shortly with no recollection of any events after. Collateral history revealed that the patient suddenly collapsed to the ground with no apparent warning, and she was unresponsive for approximately 20 seconds before she regained full consciousness without confusion. She did not report any visual symptoms.

Her grandmother experienced sudden death at 34 with no apparent cause found on autopsy. Her mother also had recurrent syncopal episodes during her 20s, and this was managed with an implantable defibrillator. Examination today was unremarkable. ECG revealed sinus rhythm with a QTc period of 550ms. This was consistent on repeat ECGs.

Given the underlying diagnosis and the most common genetic mutation associated with this, which ion channel is most likely affected?

Select the SINGLE most appropriate option from the list below. Select ONE option only.