Brugada Syndrome

What is Brugada syndrome?

Brugada syndrome is a 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. Out of all the sudden cardiac deaths that happen, researchers blame Brugada syndrome for 4% of them.

Brugada syndrome is rare. About 3 to 5 people in 10,000 have the condition.

What are the symptoms of Brugada syndrome?

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.
• Difficulty breathing.
• Heart palpitations (a fluttering or a flip-flopping in your chest).
• Cardiac arrest. This may be the first symptom and the reason some people with Brugada syndrome die in their sleep.

More than 70% of people with Brugada syndrome don’t have any symptoms.

What triggers Brugada syndrome?

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 implantable cardioverter defibrillator (ICD). You can take over-the-counter (OTC) medicines to bring your fever down.

Other symptom triggers include:

• Heat exhaustion.
• Dehydration.
• Sodium channel blockers (medicines that block sodium).
• Lithium.
• Tricyclic antidepressants.
• Too many beverages that contain alcohol.
• Cocaine.
• Marijuana.

What causes Brugada syndrome?

Brugada syndrome causes include an unknown cause or a genetic one. About 70% of people with Brugada syndrome don’t have a known genetic mutation.

Some people 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 Brugada syndrome. Any child of someone with a Brugada-related gene variation has a 50% chance of having it too.

What are the risk factors for Brugada syndrome?

Brugada syndrome is more common in people assigned male at birth (AMAB). They’re eight to 10 times more likely than people assigned female at birth (AFAB) to have the condition. Anyone with a biological family history of sudden cardiac death or Brugada syndrome should find out if they have the disease.

The condition appears to be more common in people with Asian ancestors.

How is Brugada syndrome diagnosed?

To make a Brugada syndrome diagnosis, a healthcare provider will:

• Perform a physical exam.
• Review your medical history.
• Review your biological family history, especially a history of sudden cardiac death.
• Order tests.

What tests will be done to diagnose Brugada syndrome?

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. Other biological family members may want to have a test for this variation. It’s important to schedule a screening for this condition if you have a biological first-degree relative with Brugada syndrome. First-degree relatives are your parents, siblings and children.
• Electrocardiogram (EKG): This test records the electrical activity that makes your heart beat. Brugada syndrome type 1 describes a specific EKG pattern a provider sees in your results. Brugada syndrome type 2 or 3 has a weaker version of this pattern and isn’t a definite diagnosis. With triggers, the pattern can change from type 2 or 3 to type 1. Because this 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 the pattern. They also may do an EKG before and after you eat a large meal.
• 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. Your provider may call this a drug challenge test. They may use it 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 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 Brugada syndrome treated?

The goal of Brugada syndrome treatment is to keep you from having ventricular arrhythmias and treat them when they happen.

Your treatment may include:

• Isoproterenol.
• Quinidine.
• Implantable cardioverter defibrillator (ICD) if you have ventricular tachycardia, fainting spells or a cardiac arrest.
• Ablation (in some cases).

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.

Complications of the treatment

ICDs aren’t perfect devices. They can:

• Deliver a shock at the wrong time.
• Have a malfunctioning lead.
• Harbor an infection.

How long does it take to recover from this treatment?

You can do many activities a few days after receiving an ICD, but you’ll likely wait a week to drive. You can get a little physical activity every day, but not to the point of tiring yourself out. Don’t do any heavy lifting or strenuous activities until your provider tells you it’s OK.

Can Brugada syndrome be prevented?

If you inherited Brugada syndrome from a parent, you can’t change that. If you know Brugada syndrome is in your family, you and your relatives can get a genetic test to check for it. Also, people considering pregnancy can see a genetic counselor to find out if they’re at risk of passing it on to their children.

What can I expect if I have Brugada syndrome?

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 of sudden cardiac death.

How do I take care of myself?

If a provider diagnosed you with Brugada syndrome, avoid the things that trigger an arrhythmia. You can prevent symptoms by avoiding fever and certain medications and substances. Ask your provider for a list of medicines to avoid.

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.

When should I go to the ER?

You need immediate medical care if you’re in cardiac arrest. Since 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 questions should I ask my healthcare provider?

Ask your provider:

• Do I need an ICD?
• What kind of maintenance does an ICD need?
• Can you recommend a support group I could join with others who have this condition?