Stanford Center for Inherited Cardiovascular Disease

The Brugada Syndrome

The Brugada Syndrome is a genetic disorder of sudden death caused by abnormalities in ion channels of the heart.  Ion channels are responsible for healthy flow of electrical signals that control the heart beat.  A genetic abnormality in the sodium ion channels can cause a dangerously fast heart rhythm called ventricular tachycardia.  Patients who undergo episodes of ventricular tachycardia can experience dizziness, syncope (passing out), or even sudden death.

The heart muscle itself is not abnormal, so patients can be asymptomatic until their first episode of ventricular tachycardia.  Although imaging studies, such as cardiac ultrasounds, are typically normal, patients with Brugada have a characteristic pattern on their electrocardiogram (ECG) that often leads to the diagnosis.  One of the difficulties in the disorder is that these ECG findings can come and go, making the diagnosis difficult to make.  Exposure to inciting medications in a controlled setting and catheter-based stimulation studies are sometimes needed for diagnostic purposes.  Medications are not effective at preventing sudden death and an internal cardiac defibrillator is advised in patients with Brugada Syndrome who are at increased risk of sudden death..

Although some patients with Brugada have a mutation in the sodium channel gene SCN5A, some patients have mutations in other genes that regulate this ion channel.  The condition is passed on in a dominant manner, meaning that only one copy of the mutation is needed to cause the disease.   Commercial testing is available for Brugada Syndrome, however, only a small percentage of mutations can be identified this way.

Learn more about Brugada Syndrome »

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