What is Brugada syndrome?
Brugada syndrome is a genetic disorder that can causes a dangerous irregular heartbeat.
A mutation in the SCN5A gene causes 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, 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 caused by a mutation 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 causes heart muscles cells to handle
sodium abnormally, which can then lead to abnormal heart rhythms.
Sometimes you may have Brugada syndrome but it is dormant and does not 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 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
What are the risk factors 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 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 detect the disease.
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. However, there are ways to protect
people from the dangerous consequences of the disease. An implanted cardioverter defibrillator
(ICD) can help prevent the symptoms and sudden death related to Brugada syndrome.
When this device detects the start of an arrhythmia, it sends out 1 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
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. It is 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 in your SCN5A gene that may help determine
- If Brugada syndrome is diagnosed, an implanted cardioverter defibrillator can prevent
symptoms and sudden death related to the syndrome
- If you have any of the symptoms of ventricular arrhythmia, seek emergency medical
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
- 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
- Know how you can contact your provider if you have questions.