Monday, December 8, 2008

Sodium Channelopathy

A 40 year old Asian man presents for a routine adult check-up and because his father, paternal grandfather, and paternal uncle all died of sudden cardiac death in their sleep before the age of 40, an EKG is taken. A shows a normal EKG. B shows this patient's EKG. The cardiac review of systems is notable for an episode of unexplained syncope a few months ago.

Challenge: This is a rare cause of sudden cardiac arrest in a heart without a structural defect. What is it?

Image shown under GNU Free Documentation License.


tree said...

Brugada syndrome

Craig Chen said...

Sodium Channelopathy

This is Brugada syndrome, associated with mutations in the SCN5A gene, which encodes the alpha subunit of the cardiac sodium channel. The EKG findings include a pseudo-RBBB and persistent ST segment elevation in V1-V3. In addition, the diagnosis requires one of the following: v-fib, v-tach, family history of sudden cardiac death at <45 years, ST elevation in family members, inducible VT, unexplained syncope suggestive of tachy-arrhythmia, or nocturnal agonal respiration. Brugada syndrome is related to life-threatening ventricular arrhythmias, usually between ages 22-65 and more common at night during sleep.

Sources: UpToDate; Wikipedia.