Brugada Syndrome

Brugada (brew-GAH-dah) syndrome is a life-threatening condition in which the heart's normal rhythm gets disrupted.

Generally, this disorder may lead to irregular heartbeats in the lower chamber of the heart, which is called ventricular arrhythmia. Most patients with Brugada syndrome do not have any symptoms because of which they are unaware of their condition.

This syndrome appears commonly in adulthood, although it can develop at any time throughout life. The signs and symptoms of arrhythmias, including sudden death may occur at any time between early infancy to late adulthood, but typically occurs around the age of 40. Brugada syndrome is more common in men.

An abnormality called a type 1 Brugada ECG pattern can be detected by an electrocardiogram (ECG) test.

Brugada syndrome can be treated through preventive measures such as avoiding aggravating medications, controlling fever and, when required, implantation of a medical device called cardioverter-defibrillator (ICD).

If left untreated, the irregular heartbeats may lead to complications such as

• fainting (syncope),
• seizures,
• difficulty in breathing,
• or sudden death may occur when the person is asleep.

Brugada syndrome, most of the times remains undiagnosed as the condition does not cause any noticeable signs or symptoms.

The most important sign of Brugada syndrome being an abnormal pattern on an electrocardiogram (ECG), which shows ST-segment elevation in leads V1-V3 is called a type 1 Brugada ECG pattern.

Other signs and symptoms that could mean you have Brugada syndrome include the following:

• Fainting (syncope)
• Sudden cardiac arrest (extremely fast and chaotic heartbeat) that occurs during rest or sleep
• Irregular heartbeats or palpitations 
• Fever: May trigger or exacerbate clinical symptoms

As these signs and symptoms are similar to some of the heart rhythm problems, it is important to consult your doctor to find out the exact cause of your symptoms.

When to see a doctor

If you have palpitations or an irregular heartbeat (arrhythmia), it is necessary to consult your doctor.

The root cause of your problem could be a heart rhythm disorder, but tests can only determine the underlying causes of your heart problem.

If you faint and you believe that it is because of a heart condition, seek emergency medical attention. If you have a family history of Brugada syndrome, you may consult your doctor.

Brugada syndrome is caused by an abnormality within the electrical impulses of your heart.

Normally, every heart beat is triggered by an electrical impulse created by special cells in the right upper chamber of your heart.

There are tiny pores called channels, on each of these cells to direct this electrical activity, which makes your heart beat.

In Brugada syndrome, an abnormality develops in these channels causing abnormal heartbeat and fast, dangerous heart rhythm (ventricular fibrillation). As a result, your heart cannot pump effectively and supply sufficient blood to the rest of your body, which causes fainting if this rhythm lasts for short time, and sudden cardiac arrest , if the rhythm lasts for a longer period.

Brugada syndrome is inherited, but may also occur due to abnormality in your heart, imbalances of chemicals that are necessary for transmission of electrical signals through your body (electrolytes), or the effects of certain prescription medications or cocaine.

Brugada syndrome can result due to mutations in one of your genes. The most commonly mutated gene is SCN5A, which provides instructions for making a sodium channel that transports positively charged sodium ions into heart muscle cells. This ion channel plays an important role in maintaining your heart's normal rhythm.

You will need to have several appointments to confirm the diagnosis if your doctor suspects Brugada syndrome.

Your doctor will give you instructions about specific preparations to be followed before going to each appointment. Here is some information that helps you get ready for your appointment, and to know what to expect from your doctor.

What you can do

When you make the appointment, always ask if there are pre-appointment restrictions or anything you need to do in advance. For instance, if you are going to have a test to check your heart's electrical activity (electrophysiology study), fasting for eight to 12 hours before your test is recommended.

Make a list of the following information:

• Symptoms you are experiencing, including those that may seem unrelated to Brugada syndrome.
• Key personal information, especially any family history of sudden cardiac arrest or heart conditions, and any personal history of fainting or heart arrhythmias.
• Medications, vitamins or supplements you take regularly.
• Ask a family member or friend to accompany you if possible. Someone who accompanies you may help you remember something that you missed or forgot.

Write down questions to be asked to your doctor

Prepare a list of questions you want ask to ask your doctor in advance.

For Brugada syndrome, some basic questions you may ask your doctor include:

• What is the most likely cause of my symptoms?
• What are other possible causes for my condition?
• What kind of tests will I need?
• Is treatment required for Brugada syndrome?
• Which is the best treatment?
• What level of physical activity is recommended?
• How often should follow-up visits be scheduled to monitor my condition?
• I have other health conditions. How can I best manage them together?
• Are there any other restrictions that I need to follow?
• Are there brochures or other printed material that can be taken home with me? What websites do you recommend?
• Should my family members be tested for this condition?

What to expect from your doctor

Your doctor may ask you a few questions, such as:

• Does anybody in your family have a history of Brugada syndrome or other heart rhythm disorders?
• When did you notice your symptoms first?
• Have your symptoms been continuous or occasional?
• How often do your symptoms, such as fainting occur?

Apart from typical physical examination, which includes listening to your heartbeat with a stethoscope, and the standard 12-lead ECG, other tests to check for Brugada syndrome include:

Electrocardiogram (ECG) with medication

In this noninvasive test, probes are placed on your chest to record the electrical impulses that make your heart beat. An ECG can record these electrical signals and can help detect irregularities in heart's rhythm and structure.

However, as your heart rhythm can change, an electrocardiogram by itself cannot detect an abnormal heart rhythm.

Your doctor may inject a medication through an intravenous (IV) line to unmask the type 1 Brugada ECG pattern in people who have Brugada syndrome.

Electrophysiology (EP) test

If the results of ECG suggest that you have Brugada syndrome, your doctor may recommend an EP test in order to find out how easy it is to get the heart to go into the abnormal Brugada rhythm.

During an EP test, a catheter is inserted into a vein in your groin and passed upwards to reach your heart, similar to cardiac catheterization.

Through the catheter, electrodes are then passed to reach different points in your heart. The electrodes can map out any irregular heartbeats. The electrodes detect the electrical signals running through your heart.

Genetic testing

While genetic testing is not necessary to diagnose Brugada syndrome, your doctor may advise genetic testing for your family members if you have been diagnosed with Brugada syndrome.

The treatment of Brugada syndrome is based on the patient's risk of having an irregular heartbeat (arrhythmia).

People who are considered to be at high risk have a personal history of the following conditions:

• Serious heart rhythm disorders
• Fainting spells
• Survived sudden cardiac arrest
• Medications are generally not used to treat Brugada syndrome due to the nature of the heart rhythm abnormality.

A medical device called an automatic implantable cardioverter-defibrillator is a proven treatment that prevent sudden death in patients with Brugada syndrome.

Implantable cardioverter-defibrillator (ICD)

This is indicated in high-risk individuals. It is a small device that continuously monitors your heart rhythm and delivers electrical shock if necessary to control abnormal heartbeats.

While implanting an ICD, a flexible, insulated lead wire is passed through a major vein situated under or near your collarbone and then guided to your heart with the help of X-ray imaging.

The ends of the leads are placed in your heart's lower pumping chambers or ventricles, while the other ends are attached to the shock generator, which is normally implanted beneath the skin on your collarbone.

This implantation procedure requires you to stay in the hospital for a day or two. It is important to weigh the benefits of the procedure over the risks as it may cause complications, some of which may be life-threatening.

Your doctor will program your ICD to reduce the risk.

Drug therapy

In some cases, medications such as quinidine are used to avoid development of potentially dangerous rhythm. It may be helpful as a supplemental therapy for people who have an ICD.

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

There are several ways to cope with your feelings that arise with brugada syndrome, which include:

• Support groups: Knowing that you or your loved one has a heart problem could be unnerving. Deriving support from friends and family is very essential, but if you think you need more help, discuss with your doctor about joining a support group. Talking about your concerns with others who are experiencing the same difficulties can help.

• Follow up medical evaluation: If you have Brugada syndrome, regular check-ups will be required to make sure you are managing your heart condition properly. Regular checkups can help your doctor decide if you need to change your treatment and may be helpful to identify new problems early.

A diagnosis of Brugada syndrome may make you debilitated. You may start worrying about your treatment or whether other family members could be at risk.

Risk factors for Brugada syndrome include:

• Family history of Brugada syndrome: If other members in your family have had Brugada syndrome, you are at an increased risk of having the condition.

• Being male: Brugada syndrome is 8-10 times more prevalent in adult men than women. However, adolescent boys and girls are diagnosed at about the same rate.

• Race: Brugada syndrome is more common among Asians than other races.

• Fever: Fever can irritate the heart and cause a Brugada-triggered faint or sudden cardiac arrest in children.

Brugada syndrome may sometimes lead to serious complications that require emergency medical care. These include:

• Sudden cardiac arrest

Without timely treatment, this sudden loss of your

• heart function,
• breathing,
• consciousness,

which often occurs during sleep becomes fatal. With prompt and appropriate medical care, survival is possible. Administration of cardiopulmonary resuscitation (CPR) that includes rapid compressions to the chest in addition to an external shock provided from an automatic external defibrillator (AED) can improve your chances of survival.

• Fainting (syncope): Seek immediate medical care if you experience a fainting spell.