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Brugada Syndrome

What is Brugada syndrome?

Brugada syndrome is a genetic disorder that can causes a dangerous irregular heartbeat. In many cases, a defect in the SCN5A gene causes the genetic form of this condition. When this defect occurs, it may cause a ventricular arrhythmia. This is a type of irregular heartbeat. When this happens, the lower chambers of your heart (ventricles) beat irregularly and prevent blood from circulating properly in your body. This can be dangerous and may result in fainting or even death, especially during sleep or rest. The disease has been known as sudden, unexplained nocturnal death syndrome because people with it can often die in their sleep.

Brugada syndrome is rare. It affects about 5 of every 10,000 people worldwide. Symptoms usually show up during adulthood, although the disorder can develop at any age, including infancy. The average age of death related to the disease is 40 years old.

What causes Brugada syndrome?

The genetic form of Brugada syndrome is most often caused by a defect in the SCN5A gene but other genes can be involved, too. It can be inherited from just one parent. However, some people develop a new defect of the gene and don't inherit it from a parent. This genetic defect causes heart muscles cells to handle sodium abnormally, which can then lead to abnormal heart rhythms. 

Sometimes you may have Brugada syndrome but it's dormant and doesn't cause any problems. However, some medicines such as antidepressants and antipsychotics, illicit drugs, conditions that cause fever, and electrolyte problems can unmask the syndrome. Sometimes people may appear to have Brugada syndrome based on an electrocardiogram but don't have the disease itself. This is called a Brugada ECG pattern and may not pose a risk if the condition is temporary and doesn't cause symptoms or dangerous heart rhythms.

Who is at risk for Brugada syndrome?

People who are at greatest risk for the disorder are those of Asian descent, particularly Japanese and Southeast Asian ancestry. It occurs 8 to 10 times more often in men than in women. Researchers think the male hormone testosterone may contribute to the difference between genders.

What are the symptoms of Brugada syndrome?

Symptoms that may occur with Brugada syndrome include:

  • Palpitations
  • Fainting
  • Seizures
  • Sudden death or cardiac arrest

How is Brugada syndrome diagnosed?

Your doctor may think you have Brugada syndrome if you have any of the above symptoms not explained by another more common condition. He or she may also suspect it if you have a family history of the disease, or an unexplained sudden death in the family. An electrocardiogram (ECG) can help diagnose the disease. People with typical ECG features who have experienced fainting , sudden cardiac death, or a ventricular tachyarrhythmia, or who have a family history of sudden cardiac death or Brugada syndrome are typically diagnosed with "Brugada syndrome." Genetic testing can also be diagnostic.

If the diagnosis is unclear or if you are found to have the Brugada ECG pattern but have no symptoms your doctor may have you undergo a test called a "drug challenge." This is done in a hospital setting with professional supervision. You are given a medicine that blocks sodium channels and several ECGs are done to look for changes in your ECG.

First-degree relatives of someone with Brugada syndrome should be screened. This may include at least a history, physical exam, and an ECG.

How is Brugada syndrome treated?

Currently, there is no cure for Brugada syndrome. But, there are ways to protect people from the dangerous consequences of the disease. An implanted cardioverter defibrillator (ICD) can help prevent sudden death related to Brugada syndrome. When this device detects the start of an arrhythmia, it will either try to stop it with pacing or deliver a shock to reset it back into its regular rhythm.

Medicines may also help prevent arrhythmias. Another potential treatment option may be a cardiac ablation. In this procedure, energy is directed to destroy the area of heart tissue causing the dangerous arrhythmia. Discuss all options with a qualified healthcare provider.

What are possible complications of Brugada syndrome?

The most serious complication of Brugada syndrome is sudden death. This often occurs while the person is sleeping.

Can Brugada syndrome be prevented?

Many cases of Brugada syndrome are related to a genetic defect. It's not possible for you to prevent inheriting this condition. However, identifying the condition is key to preventing its potential complications. If you have Brugada syndrome and plan to have children, you may want to consult with a genetic counselor first.

When should I call my healthcare provider?

If you have any of the symptoms of ventricular arrhythmia, seek emergency medical help immediately. If you believe you may be at risk for Brugada syndrome because of your family history or other reasons, consult a healthcare provider for testing.

Key points for Brugada syndrome

  • Brugada syndrome is a disorder that causes an irregular heartbeat
  • It can be either inherited or acquired
  • Genetic testing can look for a mutation such as with the SCN5A gene that may help determine your risk
  • If Brugada syndrome is diagnosed, an implanted cardioverter defibrillator (ICD) may be considered to prevent sudden death related to the syndrome
  • If you have any of the symptoms of ventricular arrhythmia, seek emergency medical help immediately

Next steps

Tips to help you get the most from a visit to your healthcare provider:

  • Know the reason for your visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • Bring someone with you to help you ask questions and remember what your provider tells you.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
  • Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
  • Ask if your condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if you do not take the medicine or have the test or procedure.
  • If you have a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your provider if you have questions.
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