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Brugada syndrome

Definition

Brugada (brew-GAH-dah) syndrome is a potentially life-threatening heart rhythm disorder. It's characterized by a specific abnormal heartbeat called a Brugada sign, which is detected by an electrocardiogram test. Brugada syndrome is frequently an inherited condition.

Many people who have Brugada syndrome don't have any symptoms, and so they're unaware of their condition. Brugada syndrome is much more common in men than in women.

Brugada syndrome is treatable using a medical device called an implantable cardioverter-defibrillator.

Symptoms

Many people who have Brugada syndrome are undiagnosed because the condition often doesn't cause any noticeable symptoms.

The most important sign or symptom of Brugada syndrome is an abnormal pattern on an electrocardiogram (ECG) called a Brugada sign. A Brugada sign is a pattern of heartbeats that's found on a test of your heart rhythm (electrocardiogram, or ECG). You can't feel a Brugada sign it's only detected on an ECG.

It's possible to have a Brugada sign without having Brugada syndrome. However, signs and symptoms that could mean you have Brugada syndrome include:

  • Fainting (syncope)
  • Irregular heartbeats or palpitations
  • Stopped heartbeat (sudden cardiac arrest)

Brugada syndrome signs and symptoms are similar to some other heart rhythm problems, so it's essential that you see your doctor to find out if Brugada syndrome or another heart rhythm problem is causing your symptoms.

When to see a doctor
If you have heart palpitations or an irregular heartbeat (arrhythmia), make an appointment to see your doctor. Your problem could be caused by a heart rhythm problem, but tests can determine if your heart problem is Brugada syndrome. If you faint and you suspect it may be because of a heart condition, seek emergency medical attention.

If your parent, sibling or child has been diagnosed with Brugada syndrome, you may want to make an appointment with your doctor. He or she can discuss whether you should have genetic testing to see if you're at risk of Brugada syndrome.

Causes

Brugada syndrome is a heart rhythm disorder. Each beat of your heart is triggered by an electrical impulse generated by special cells in the right upper chamber of your heart. Tiny pores, called channels, on each of these cells direct this electrical activity, which makes your heart beat. In Brugada syndrome, a defect in these channels can cause your heart to beat abnormally.

During these episodes, your heart doesn't pump effectively. As a result, not enough blood travels to the rest of your body. This can cause fainting or sudden cardiac death.

Brugada syndrome is usually inherited, but it may also result from a hard-to-detect structural abnormality in your heart, imbalances in chemicals that help transmit electrical signals through your body (electrolytes), or the effects of certain prescription medications or cocaine use.

Brugada syndrome usually is diagnosed in adults and, sometimes, in adolescents. It's rarely diagnosed in young children.

Risk factors

Risk factors for Brugada syndrome include:

  • Family history of Brugada syndrome. If other family members have had Brugada syndrome, you're at an increased risk of having the condition.
  • Being male. Adult men are more frequently diagnosed than are women. In young children and adolescents, however, boys and girls are diagnosed at about the same rate.
  • Race. Brugada syndrome occurs more frequently in Asians than in other races.
  • Fever. While having a fever doesn't bring on Brugada syndrome itself, fever can increase the risk of fainting or other complications of Brugada syndrome, especially in children.

Complications

Complications of Brugada syndrome require emergency medical care. They include:

  • Sudden cardiac arrest. If not treated immediately, this sudden loss of heart function, breathing and consciousness, which often occurs while sleeping, is fatal. With fast, appropriate medical care, survival is possible. Administering cardiopulmonary resuscitation (CPR) rapid compressions to the chest can improve the chances of survival until emergency personnel arrive.
  • Fainting (syncope). If you have Brugada syndrome and you faint, seek emergency medical attention.

Preparing for your appointment

If your doctor thinks you have Brugada syndrome, you'll likely need several appointments to confirm the diagnosis and figure out how serious your condition is. Your doctor should give you instructions before each appointment on specific preparations.

Here's some information to help you get ready for your appointment, and to know what to expect from your doctor.

What you can do

  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance. For example, if you're having a test to look at your heart's structure (electrophysiology study), you'll need to fast for eight to 12 hours before your test.
  • Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome.
  • Write down key personal information, especially any family history of sudden cardiac arrest or heart conditions, and any personal history of fainting or heart arrhythmias.
  • Make a list of all medications, vitamins or supplements you're taking.
  • Take a family member or friend along, if possible. Someone who accompanies you may remember something that you missed or forgot.
  • Write down questions for your doctor.

Preparing a list of questions will help you make the most of your time with your doctor. For Brugada syndrome, some basic questions to ask your doctor include:

  • What is likely causing my symptoms or condition?
  • What are other possible causes for my symptoms or condition?
  • What kinds of tests will I need?
  • Will I need treatment for Brugada syndrome?
  • What's the best treatment?
  • What's an appropriate level of physical activity?
  • How often do I need follow-up visits to monitor my condition?
  • I have other health conditions. How can I best manage them together?
  • Are there any restrictions that I need to follow?
  • Should I see a specialist?
  • Are there brochures or other printed material I can take home with me? What websites do you recommend?
  • Should my family be screened?

Don't hesitate to ask any other questions you have.

What to expect from your doctor
Your doctor is likely to ask you a number of questions, such as:

  • Do you have a family history of Brugada syndrome or other heart rhythm problems?
  • When did your symptoms start?
  • Have your symptoms been continuous or occasional?
  • How often do you have symptoms, such as fainting?

Tests and diagnosis

Aside from a typical physical examination and listening to your heart with a stethoscope, tests to see if you have Brugada syndrome include:

  • Electrocardiogram (ECG) with medication. In this noninvasive test, a technician places probes on your chest that record the electrical impulses that make your heart beat. An ECG records these electrical signals and can help your doctor detect irregularities in your heart's rhythm and structure.

    However, because your heart rhythm can change, an electrocardiogram by itself may not detect an abnormal heart rhythm. Your doctor may give you a medication that causes an abnormal heart rhythm in people who have Brugada syndrome. The medication is usually injected by an intravenous (IV) line.

  • Electrophysiology (EP) test. If your ECG suggests that you have Brugada syndrome, your doctor may also recommend an EP test to pinpoint where in your heart your arrhythmia occurs and to check the severity of your condition.

    In an EP test, a catheter is threaded through a vein in your groin to your heart, similar to cardiac catheterization. Electrodes are then passed through the catheter to different points in your heart. The electrodes then map out any irregular heartbeats. The electrodes don't shock your heart they just detect the electrical signals running through your heart.

  • Genetic testing. While genetic testing isn't required to diagnose Brugada syndrome, your doctor may recommend genetic testing for other family members if you're diagnosed with Brugada syndrome.

Treatments and drugs

Brugada syndrome treatment depends on the risk of an abnormal heartbeat (arrhythmia). Those considered at high risk have:

  • A family history of sudden cardiac death
  • A personal history of serious heart rhythm problems
  • A personal history of fainting spells

Because of the nature of the heart rhythm abnormality, medications usually can't be used to treat Brugada syndrome only a medical device called an implantable cardioverter-defibrillator can. Implanting the device is usually recommended for people at high risk of sudden cardiac death or other complications of Brugada syndrome.

  • Implantable cardioverter-defibrillator (ICD). For high-risk individuals, treatment may include an implantable cardioverter-defibrillator (ICD). This small device continuously monitors your heart rhythm and delivers electrical shocks when needed to control abnormal heartbeats. The procedure to implant an ICD requires hospitalization for a day or two.

    ICDs may cause complications, some life-threatening, so it's important to weigh the benefits and the risks. People who have an ICD implanted as a treatment for Brugada syndrome have reported receiving shocks from their ICD even when their heartbeat was regular. This may be because many people who receive an ICD as a treatment for Brugada syndrome are young, and they may receive shocks when their heart rates increase during normal stresses, such as exercise. Your doctor will program your ICD to reduce this risk. If you have an ICD implanted as part of your Brugada syndrome treatment, talk to your doctor about ways to avoid inappropriate shocks.

Coping and support

Finding out you have Brugada syndrome can be difficult. You may worry if your treatment will work or if other family members could be at risk. There are ways to cope with your feelings about your condition, including:

  • Support groups. Finding out that you or a loved one has heart disease can be unnerving. Turning to friends and family for support is essential, but if you find you need more help, talk to your doctor about joining a support group. You may find that talking about your concerns with others who are experiencing the same difficulties can help.
  • Continued medical checkups. If you have Brugada syndrome, it's a good idea to regularly check in with your doctor to make sure you're properly managing your heart condition. Regular checkups can help your doctor decide if you need to change your treatment, and may help catch any new problems early.
Updated: 5/25/2011

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