What is Brugada syndrome?
Brugada syndrome is a disorder that causes an irregular heartbeat. A mutation in the SCN5A gene causes the genetic form of this condition. When this mutation occurs, it may cause an abnormality called a ventricular arrhythmia. This is a type of irregular heartbeat. When this happens, the lower chambers of your heart, or ventricles, beat irregularly and prevent blood from circulating properly in your body. The consequences can be dangerous and may result in death during sleep or rest. The disease has been known as sudden, unexplained nocturnal death syndrome because people with it often die in their sleep.
Brugada syndrome is rare. It affects about five 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 SCN5Agene. It is an autosomal dominant genetic disorder, which means that it is inherited from one parent. However, some people develop a new mutation of the gene and do not inherit it from a parent.
Sometimes, you acquire Brugada syndrome. When the cause isn’t genetic, Brugada syndrome may be related to medications for arrhythmia, high blood pressure, or mental illness (such as depression). High and low blood potassium levels, and high blood calcium levels, are also linked to acquired Brugada syndrome.
What are the risk factors for Brugada syndrome?
People who seem to be at greatest risk for the disorder are those of Asian descent, particularly Japanese and Southeast Asian ancestry. It occurs eight to 10 times more frequently in men than in women. Researchers speculate that the male hormone testosterone may contribute to the difference in incidence between genders.
What are the symptoms of Brugada syndrome?
Symptoms that may occur with Brugada syndrome include:
- Difficulty breathing
- Sudden death
How is Brugada syndrome diagnosed?
Brugada syndrome may be a genetic disorder. If you have a family history of Brugada syndrome or symptoms of the disorder, genetic testing to look for a mutation in your SCN5A gene may help determine your risk. If your health care provider discovers a mutation, he or she can begin to take preventive measures to help you avoid the syndrome’s potentially life-threatening consequences.
How is Brugada syndrome treated?
An implanted cardioverter defibrillator is a common method for preventing the symptoms and sudden death related to Brugada syndrome. When this device detects the start of an arrhythmia, it sends out an electrical impulse to your heart to shock it back into its regular rhythm.
Medications and other surgical techniques treat different types of arrhythmias as well. Discuss all options with a qualified health care 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. It is not possible for you to prevent inheriting this condition. However, identifying the condition is key to preventing its potential complications.
When should I call my health care provider?
If you experience 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 health care provider for testing.
- 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 your risk
- If Brugada syndrome is diagnosed, an implanted cardioverter defibrillator can prevent symptoms and sudden death related to the syndrome
- If you experience any of the symptoms of ventricular arrhythmia, seek emergency medical help immediately
Tips to help you get the most from a visit to your health care provider:
- 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 names of new medicines, treatments, or tests, and any new instructions your provider gives you.
- 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.
- Fraser, Marianne, MSN, RN
- Sohrabi, Farrokh, MD