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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.
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 rhythms.
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.
Symptoms that may occur with Brugada syndrome include:
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.
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 healthcare provider.
The most serious complication of Brugada syndrome is sudden death. This often occurs while the person is sleeping.
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.
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.
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