What is Brugada syndrome?
Brugada syndrome is a genetic disorder that can cause a dangerous irregular heartbeat, especially during sleep or at rest.
Once diagnosed, there are important changes to lifestyle and medical management that can greatly reduce the risk of serious arrhythmias. Rarely, implantable defibrillators can help reduce the risk of sudden death. At the molecular level, mutations in the SCN5A gene (which creates sodium channels in the heart muscle cells) cause the genetic form of this condition. When this mutation 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.
What causes Brugada syndrome?
The genetic form of Brugada syndrome is caused by mutations in the SCN5A gene. It is an autosomal dominant genetic disorder, which means that it can be inherited from just one parent. However, some people develop a new mutation of the gene and do not inherit it from a parent. This genetic defect can lead to abnormal heart rhythms. Most patients who have Brugada syndrome remain asymptomatic during their life. However, some medicines such as antidepressants, antipsychotics, illicit drugs, conditions that cause fever and electrolyte problems can unmask the syndrome and may cause dangerous arrhythmias.
Sometimes people may appear to have Brugada syndrome based on an electrocardiogram but do not have the disease itself. This is called acquired Brugada pattern and does not pose a risk if the condition is temporary and does not cause symptoms or dangerous heart rhythms.
What are the risk factors for Brugada syndrome?
Anyone can have Brugada syndrome, but people at greatest risk are those of Asian descent, particularly Japanese and Southeast Asian ancestry. It occurs 8 to 10 times more frequently 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:
- Sudden death
How is Brugada syndrome diagnosed?
Your doctor may suspect Brugada syndrome if you have any of the above symptoms, or if you have a family history of the disease or an unexplained sudden death in the family. An electrocardiogram (ECG) can often detect the disease. Sometimes, infusion of a drug is necessary to unmask the Brugada pattern on the ECG.
First-degree relatives of someone with Brugada syndrome should be screened. This may include a medical history, physical exam and ECG.
How is Brugada syndrome treated?
Currently, there is no cure for Brugada syndrome. However, there are ways to effectively manage the disease, including lifestyle changes and avoiding certain medications. In some patients, an implanted cardioverter defibrillator can help prevent sudden death related to Brugada syndrome. When this device detects the start of an arrhythmia, it sends out one or more brief shocks to your heart to reset it back into its regular rhythm. Medicines may also help prevent arrhythmias. Discuss all options with a qualified healthcare provider.
What are the 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 mutation. Identifying the condition is key to preventing its potential complications. If you have Brugada syndrome, you should discuss the risk implications for your relatives and children with a genetic counselor.
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 may cause an irregular heartbeat. Most often, it remains asymptomatic
- The syndrome can be either inherited or acquired
- Genetic testing can look for a mutation in your SCN5A gene that may help determine your risk and is important for family screening
- If Brugada syndrome is diagnosed, most patients can manage their condition with lifestyle changes only. In some cases, an implanted cardioverter defibrillator which can reduce the risk of sudden death may be necessary
- If you have any of the symptoms of ventricular arrhythmia (palpitations, unusual dizziness or lightheadedness, passing out spells), seek emergency medical help immediately
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 any new diagnoses, 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.