Brugada Syndrome

Brugada syndrome (BrS) is a genetic disease that can cause an abnormal rhythm in your heart’s lower chambers (ventricles). This irregular heart rhythm, ventricular fibrillation (v-fib), prevents your heart from pumping blood to your brain. When this happens, you faint.

V-fib can lead to sudden cardiac death. This often happens while you’re at rest or asleep. Cardiac arrest may be the first symptom and the reason some people with this syndrome die in their sleep. To prevent cardiac arrest, healthcare providers put in an implantable cardioverter defibrillator (ICD).

You can inherit this rare syndrome from a biological parent. About 5 people in 10,000 around the world have Brugada syndrome.

Types of this condition

Brugada syndrome type 1 has a specific electrocardiogram (EKG) pattern that a provider sees in your results.

Brugada syndrome types 2 and 3 have a less prominent version of this pattern and aren’t a definite diagnosis. You may need further testing in an electrophysiology lab.

Symptoms of Brugada syndrome

Most people with BrS don’t have any symptoms. Brugada syndrome symptoms can happen at any age, but often start when you’re around 40 years old. Symptoms may include:

• Ventricular arrhythmia (an abnormal heart rhythm)
• Fainting (syncope)
• Dizziness
• Gasping for breath at night
• Heart palpitations (a fluttering or a flip-flopping in your chest)
• Cardiac arrest

Brugada syndrome causes

A genetic variation causes some cases of Brugada syndrome. But most people with this syndrome may not have a detectable genetic abnormality.

You may have a genetic variation in one of 18 or more genes, most often in SCN5A. These variations interfere with heartbeat signal conduction in your heart.

It only takes one copy of an affected gene from one parent to inherit BrS. Any child of someone with a Brugada-related gene variation has a 50% chance of having it, too.

Other biological family members may want to get a test for this variation. It’s important to schedule a screening for Brugada if you have a biological first-degree relative with Brugada syndrome. First-degree relatives are your parents, siblings and children.

Brugada syndrome triggers

A fever can trigger Brugada symptoms. This is why people with Brugada syndrome need to treat a fever right away — even if they have an ICD. You can take over-the-counter (OTC) medicines like acetaminophen to bring your fever down.

Other symptom triggers include:

• Heat exhaustion
• Dehydration
• High potassium or calcium
• Sodium channel blockers (medicines that block sodium)
• Beta-blockers
• Lithium
• Tricyclic antidepressants
• Too many drinks that contain alcohol
• Cocaine
• Marijuana

Risk factors

Most people with a Brugada syndrome diagnosis are male. Other risk factors include:

• Biological family history of sudden cardiac death
• Biological family history of Brugada syndrome
• Asian ancestry

Complications of this condition

Some people with Brugada syndrome develop abnormal heart rhythms in their upper heart chambers. Atrial fibrillation (AFib) is the most common one. Ventricular fibrillation (in your lower heart chambers) from this syndrome can lead to sudden cardiac death.

How doctors diagnose this condition

To make a Brugada syndrome diagnosis, a healthcare provider will perform a physical exam and review your medical history. They’ll also review your biological family history, especially a history of sudden cardiac death. Then, they’ll request tests.

Tests for diagnosing Brugada syndrome include:

• Genetic testing: Using your saliva or blood sample, this test can confirm that you have a specific genetic variation that indicates Brugada syndrome.
• Electrocardiogram (EKG): This test records the electrical activity that makes your heart beat. Because a Brugada pattern may not appear at first, a provider may do the test two more times in a row. They reposition the leads between tests to try to capture it.
• EKG with medication: Before doing an EKG, your provider may give you medication that helps the Brugada pattern show up on the EKG results if you have the condition. They may do this if you have a type 2 or 3 pattern on your EKG to see if it changes to a type 1 pattern.

Based on your EKG results, you may also have:

• Electrophysiology (EP) testing: Providers place catheters inside your heart by going through your femoral vein in your leg. These catheters measure electrical activity from inside your heart. You may have this test if your diagnosis is unclear after other tests.
• Lab tests: Blood tests check for a normal electrolyte balance, like potassium, calcium and magnesium, and can rule out other causes of an abnormal heart rhythm.

How is it treated?

The goal of Brugada syndrome treatment is to keep you from having ventricular arrhythmias and treat them when they happen. If you have ventricular tachycardia, fainting spells or a cardiac arrest, you may need an implantable cardioverter defibrillator (ICD).

Even if you’re not having symptoms, your provider may decide you need an ICD because of your family history or test results. Some providers may do frequent follow-ups and only treat you when you have symptoms. Others don’t agree with this approach because your first symptom could be sudden cardiac death.

Besides an ICD, other treatments may include:

• Isoproterenol
• Quinidine
• Ablation (in some cases)

When should I see my healthcare provider?

You should have an appointment with your provider at least once a year. If you have an ICD, your provider should check your device at least twice a year. Tell your provider about anything unusual.

You need immediate medical care if you’re in cardiac arrest. As you won’t be able to call for help yourself if this happens, someone near you will need to help. If you’re at risk of cardiac arrest, ask your family to get CPR training and call 911 or a local emergency number. You can also let coworkers know about your risk in case you need their help.

What can I expect if I have this condition?

There’s no cure for Brugada syndrome. But treatments can lower your risk for sudden cardiac death, which is a complication of Brugada syndrome.

People with Brugada syndrome who have symptoms but aren’t receiving treatment have a high risk of sudden cardiac death. People without symptoms and with a normal EKG have a much lower risk.

Early diagnosis and treatment with an ICD can help you live longer. But an ICD can sometimes shock you when it shouldn’t. Also, part of the device can break or you can have an infection around it.