Diagnosis

Aside from a typical physical examination, listening to your heart with a stethoscope, and the standard 12-lead ECG, other 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 can unmask the type 1 Brugada ECG pattern 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 in an effort to see how easy it is to get the heart to go into the abnormal Brugada rhythm.

    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.

Treatment

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

  • A personal history of serious heart rhythm problems
  • A personal history of fainting spells
  • A personal history of survived sudden cardiac arrest

Because of the nature of the heart rhythm abnormality, medications usually aren’t used to treat Brugada syndrome. A medical device called an implantable cardioverter-defibrillator is the main treatment.

  • 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.

    To place an ICD, a flexible, insulated wire (lead) is inserted into a major vein under or near your collarbone and guided, with the help of X-ray images, to your heart.

    The ends of the leads are secured to your heart's bottom pumping chambers (ventricles), while the other ends are attached to the shock generator, which is usually implanted under the skin beneath your collarbone. 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.

    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.

  • Drug therapy. Sometimes, medications such as quinidine are used to prevent the heart from going into its potentially dangerous rhythm. It may also be helpful as a supplemental therapy for people who already have an ICD.

    However, if the patient is at high risk because of a prior cardiac arrest or a concerning fainting episode, the main treatment is ICD implantation.

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.

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 electrical activity (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?
April 19, 2014
References
  1. Mizusawa Y, et al. Brugada syndrome. Circulation: Arrhythmia and Electrophysiology. 2012;5:606.
  2. Zipes DP, et al. Cardiac Electrophysiology: From Cell to Bedside. 6th ed. Philadelphia, Pa.: Saunders Elsevier; 2014. http://www.clinicalkey.com. Accessed Jan. 17, 2014.
  3. Ferri FF. Ferri's Clinical Advisor 2014: 5 Books in 1. Philadelphia, Pa.: Mosby Elsevier; 2014. https://www.clinicalkey.com. Accessed Jan. 18, 2014.
  4. Wylie JV, et al. Brugada syndrome and sudden cardiac arrest. http://www.uptodate.com/home. Accessed Jan. 18, 2014.
  5. What is Brugada syndrome? Genetics Home Reference. http://ghr.nlm.nih.gov/condition/brugada-syndrome. Accessed Jan. 17, 2014.
  6. Ackerman MJ (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 3, 2014.