brugada syndrome

Question 1

What is Brugada syndrome?

Answer 1

A form of inherited cardiovascular disease that may present with sudden cardiac death

It is inherited in an autosomal dominant fashion

Question 2

What is the estimated prevalence of Brugada syndrome?

Answer 2

1:5,000-10,000

More common in Asians

Question 3

What percentage of Brugada syndrome cases are caused by a mutation in the SCN5A gene?

Answer 3

20-40%

The SCN5A gene encodes the myocardial sodium ion channel protein

Question 4

What are the characteristic ECG changes in Brugada syndrome?

Answer 4

Convex ST segment elevation > 2mm in > 1 of V1-V3 followed by a negative T wave

Also includes partial right bundle branch block

Question 5

What can make the ECG changes more apparent in suspected cases of Brugada syndrome?

Answer 5

Administration of flecainide or ajmaline

This is the investigation of choice

Question 6

What is the management for Brugada syndrome?

Answer 6

Implantable cardioverter-defibrillator

Question 7

Brugada syndrome is inherited in which fashion?

Answer 7

Autosomal dominant

Question 8

The prevalence of Brugada syndrome is more common in which demographic?

Answer 8

Asians

Question 9

Fill in the blank: Around _____ of Brugada syndrome cases are caused by mutations in the SCN5A gene.

Answer 9

20-40%

Question 10

True or False: Brugada syndrome can lead to sudden cardiac death.

Answer 10

True

Question 11

What is the primary function of the SCN5A gene?

Answer 11

Encodes the myocardial sodium ion channel protein