Brugada Syndrome

Overview

Brugada syndrome is a rare inherited heart rhythm disorder that affects the heart's electrical system. This condition can lead to dangerous rhythm disturbances in the lower chambers of the heart (ventricles) and can cause sudden cardiac arrest. It shows a distinctive pattern on an electrocardiogram (ECG).

Brugada syndrome is a genetic condition that results from gene mutations. The heart is structurally normal; the problem lies entirely in the electrical system. Dangerous rhythm disturbances can develop as a result of sodium channels in heart cells not functioning properly.

Brugada syndrome has the potential to cause sudden and life-threatening rhythm disturbances in certain patients. Particularly a rhythm disturbance called ventricular fibrillation causes the heart to be unable to pump effectively and requires emergency intervention.

However, an important point is this: Not everyone diagnosed with Brugada syndrome is at the same risk. Risk is assessed based on whether the patient has previously experienced fainting, family history, and the type of ECG findings. For this reason, the treatment approach is individualized.

This syndrome is most commonly diagnosed between ages 30-40 but can occur at any age. It is 8-10 times more common in men than women. It is more prevalent in people of Southeast Asian descent than other populations.

Some people with Brugada syndrome never experience any symptoms. However, some may experience fainting or sudden cardiac arrest. An implantable cardioverter defibrillator (ICD) device should be placed in high-risk patients.

Symptoms

Brugada syndrome may not produce any symptoms for a long time. For this reason, in some patients the diagnosis is made entirely by chance, during a routine ECG. In patients who do experience symptoms, the most common situation is fainting or a feeling of being about to faint. These attacks often start suddenly and typically occur during rest or during sleep.

The most common symptoms are:

• Fainting. This is the most common symptom. Due to dangerous heart rhythm, blood does not reach the brain and the person loses consciousness. Fainting usually occurs during sleep or while resting. Fainting during physical activity is rare.
• Irregular or rapid heartbeat. Ventricular tachycardia or ventricular fibrillation can develop. The heart beats very rapidly and irregularly. This situation may resolve within minutes or may require emergency intervention.
• Irregular breathing or gasping during the night. Due to dangerous rhythm disturbances during sleep, breathing may become difficult. The person may experience gasping respiration or frequent awakenings.
• Seizure-like movements. When blood does not reach the brain, muscle twitching similar to epileptic seizures may be seen. This situation can be confused with fainting.
• Sudden cardiac arrest. This is the most serious complication. The heart attempts to stop suddenly and can result in death if emergency intervention is not provided. Approximately 10-30 percent of people with Brugada syndrome face a risk of sudden cardiac arrest at some point in their lives.
• Heart palpitations. Feeling the heart beating irregularly or rapidly. This usually occurs at night or in the early morning hours.

Symptoms usually begin before age 40. In some people the first symptom may be sudden cardiac arrest. If there is a family history of Brugada syndrome or sudden death, the risk is higher.

When to See a Doctor

See a doctor urgently in the following situations:

• If you have experienced fainting of unexplained cause
• If there is a family history of sudden death at a young age
• If you are experiencing irregular heartbeat or palpitations
• If shortness of breath or irregular breathing develops during sleep
• If a Brugada pattern has been detected on your ECG, definitely see a cardiologist

Fainting or sudden cardiac arrest is an emergency and 112 should be called.

Causes

The underlying cause of Brugada syndrome is a genetic disorder affecting sodium channels in heart cells. The most commonly detected genetic change slows the transmission of the heart's electrical signals and this can cause the heart rhythm to become suddenly disturbed.

This genetic predisposition exists from birth but the disease does not manifest the same way in every individual.

Even with genetic predisposition, certain factors can trigger the appearance of symptoms:

• Fever. High fever is the most important trigger in Brugada syndrome. Dangerous rhythm disturbances can develop during febrile illnesses.
• Certain medications. Certain heart medications, anesthetic agents, antidepressants, and drugs like cocaine can trigger dangerous rhythm disturbances.
• Electrolyte imbalances. Disturbances in potassium or calcium levels increase risk.
• Alcohol. Excessive alcohol consumption can be a trigger.
• Nighttime sleep. Dangerous rhythm disturbances typically occur at night or in the early morning hours.

Although the reason is not fully understood, it is much more common in men and has a more serious course. It is thought that this may be related to the testosterone hormone.

Diagnosis

The foundation of diagnosis is electrocardiography. ECG findings specific to Brugada syndrome are diagnostic. However, because these findings are not always persistent, provocation tests conducted with special drugs may be necessary in some patients.

The diagnostic process typically includes:

• Electrocardiogram (ECG). This is the most important diagnostic tool. Brugada syndrome has a distinctive ECG pattern. Typical ST segment elevation is seen in leads V1 and V2. There are three types of Brugada pattern; Type 1 is sufficient for diagnosis. ECG findings may not be stable; they sometimes appear and sometimes disappear. For this reason, repeated ECG recordings may be necessary.
• Drug test (provocation test). If the Brugada pattern is not clearly visible on ECG but there is suspicion, a drug test can be performed. Sodium channel blockers such as ajmaline, flecainide, or procainamide are given intravenously and ECG changes are monitored. If the drug reveals a Brugada pattern, the diagnosis is confirmed.
• Genetic testing. Blood samples are examined for mutations in SCN5A and other related genes. Genetic testing may not find a mutation in every case because there may be genes not yet discovered that also play a role. However, a positive genetic test strengthens the diagnosis and helps with family screening.
• Electrophysiology study (EPS). This is an advanced test performed via cardiac catheterization. Electrodes are placed inside the heart to test whether dangerous rhythm disturbances can be triggered. This test is used for risk assessment but is not mandatory for diagnosis.
• Holter monitor or event recorder. Devices that record heart rhythm for days or weeks. Used to capture rhythm disturbances during symptoms.
• Echocardiography. This images the structure of the heart. In Brugada syndrome the heart is structurally normal; however, this is performed to rule out other heart problems.
• Family screening. First-degree relatives (mother, father, siblings, children) of a person diagnosed with Brugada syndrome should undergo ECG and, if necessary, genetic testing.

Treatment

The treatment approach in Brugada syndrome is determined based on the patient's risk level. Not every patient diagnosed with Brugada syndrome receives active treatment. Asymptomatic and low-risk patients can be monitored with regular follow-up. In high-risk patients, the primary treatment option is an implantable cardioverter defibrillator, or ICD device.

Treatment options include:

Implantable cardioverter defibrillator (ICD). This is the most effective treatment method in high-risk patients. An ICD is a device about the size of a pocket watch and is surgically placed in the chest area. It continuously monitors heart rhythm. If a dangerous rhythm disturbance develops, the device applies an electrical shock to return the heart to normal rhythm. ICDs save lives.

Who is ICD recommended for:

• People who have experienced sudden cardiac arrest
• People with unexplained fainting and a Type 1 Brugada pattern on ECG
• People with positive genetic testing, a history of fainting, and dangerous rhythms that can be triggered in electrophysiology studies
• People with a family history of sudden death and a Type 1 pattern on ECG

Quinidine therapy. This is a medication that can be used as an alternative or supplement to ICD. Quinidine (quinidine) helps prevent dangerous rhythm disturbances. However, it is not effective in every patient and can have side effects. It may be considered in patients who cannot have an ICD placed or who experience very frequent ICD shocks.

Fighting fever. Since fever is the most important trigger, fever-reducing medication should be used immediately in febrile illnesses. Reducing fever is especially important in children.

Avoiding triggers. Certain medications, excessive alcohol, and drugs like cocaine should be avoided. A list of medications that should not be used in Brugada syndrome can be found at www.brugadadrugs.org.

Regular follow-up. Even if an ICD has been placed, regular cardiology check-ups are essential. The ICD's battery status and functionality are checked.

Low-risk patients. In people without symptoms, no family history of sudden death, and ECG findings discovered incidentally, monitoring may be sufficient. However, regular check-ups and avoiding triggers are important.

Complications

The most serious complication of Brugada syndrome is sudden cardiac arrest.

Other problems that can develop include:

• Sudden cardiac arrest. This is the most feared complication. If ventricular fibrillation develops, the heart cannot pump effectively. Death can result within minutes.
• Injuries from fainting. Head trauma or fractures can occur from falls due to sudden loss of consciousness.
• Anxiety and depression. The psychological burden of carrying the risk of sudden death can be heavy. Some people live in constant worry. However, this risk is not the same for everyone.

Living with Brugada Syndrome

Receiving a diagnosis of Brugada syndrome can be frightening, but a normal life can be maintained with the right approaches.

• Avoid triggers. Lower fever immediately, stay away from risky medications, and don't consume excessive alcohol. Definitely consult your doctor before starting any medication.
• Get used to your ICD. Wearing an ICD does not greatly restrict your lifestyle. You can do most daily activities. However, you may need to stay away from certain electrical devices (powerful magnets, metal detectors).
• Inform your family. Those close to you should have knowledge about Brugada syndrome. They should know what to do in emergencies. Recommend that they receive basic life support (CPR) training.
• Regular check-ups. Do not miss your cardiology appointments. If you have an ICD, device checks are very important.
• Consult about exercise. Most Brugada patients can exercise. However, consult your doctor before engaging in excessively strenuous or competitive sports.
• Psychological support. If necessary, seek support from a psychologist or psychiatrist. Anxiety and depression are treatable.
• Family screening. Your first-degree relatives must definitely be screened. Early diagnosis can save lives.
• Carry medical identification. Carry a bracelet or necklace indicating that you have Brugada syndrome. This provides important information to medical teams in emergencies.

Preparing for Your Appointment

What you can do:

• Note when symptoms occurred and how, if you experienced them
• Specify what you were doing during fainting or palpitations
• Gather detailed information if there is a family history of sudden death, fainting, or heart disease
• List all medications and supplements you are taking
• Bring any ECGs taken in the past
• Write your questions down in advance

Questions you can ask your doctor:

• Is the diagnosis of Brugada syndrome certain?
• What is my risk level?
• Do I need an ICD?
• What are the risks and benefits of an ICD?
• Which medications should I avoid?
• Can I exercise?
• Should my family be screened?
• Do you recommend genetic testing?
• How often should I be monitored?

Your doctor may ask you:

• Have you experienced fainting or palpitations?
• When and how did symptoms occur?
• Is there sudden death or Brugada syndrome in the family?
• What medications are you taking?
• Did symptoms increase during febrile illness?
• Do you experience shortness of breath during sleep?
• Do you use alcohol or drugs?