Tuesday, 28 October 2025

Brugada Syndrome: Causes, Symptoms, Diagnosis, and Treatment

Brugada Syndrome is a rare but potentially life-threatening heart condition that disrupts the heart’s normal electrical rhythm. Although it often goes unnoticed, this hereditary disorder can cause dangerous arrhythmias and sudden cardiac arrest, even in people with no previous signs of heart disease. Understanding its causes, symptoms, and treatment options is essential for early detection and prevention.



What Is Brugada Syndrome?

Brugada Syndrome is a genetic cardiac disorder that affects the way electrical signals pass through the heart. These signals control the heartbeat, ensuring it pumps blood efficiently. In Brugada Syndrome, mutations in specific genes—most commonly the SCN5A gene—alter the function of sodium ion channels in heart muscle cells. This abnormality disrupts the heart’s rhythm, leading to potentially dangerous arrhythmias.

It is classified as a channelopathy, meaning a disease caused by malfunctioning ion channels. These channels play a crucial role in conducting electrical impulses that regulate heartbeats. When they malfunction, the heart can develop irregular rhythms, such as ventricular fibrillation, where the lower chambers (ventricles) beat chaotically instead of pumping blood effectively.

How Brugada Syndrome Affects the Heart

In a normal heart, electrical impulses follow a specific path that allows coordinated contraction of the heart chambers. In Brugada Syndrome, this conduction is altered—especially in the right ventricle—which can cause sudden changes in heart rhythm.
If untreated, this can lead to ventricular tachycardia or ventricular fibrillation, conditions that may result in sudden cardiac arrest.

These episodes can happen without warning, often during rest or sleep, which is one reason the condition is so dangerous and difficult to detect early.

Symptoms of Brugada Syndrome

The symptoms of Brugada Syndrome can vary from mild to severe. Some individuals may remain asymptomatic throughout their lives, while others experience significant cardiac events.
Symptoms tend to occur at rest, during sleep, or after a fever, since body temperature can affect the ion channels in the heart.

Common Symptoms:

  • Fainting (syncope)

  • Dizziness or lightheadedness

  • Heart palpitations (irregular or rapid heartbeat)

  • Shortness of breath or difficulty breathing

  • Seizure-like episodes due to decreased blood flow to the brain

Severe Complications:

  • Ventricular fibrillation: The heart quivers instead of pumping properly.

  • Sudden cardiac arrest: The heart suddenly stops beating, which can be fatal if not treated immediately.

Because symptoms can mimic other conditions—or appear only occasionally—many people are unaware they have Brugada Syndrome until a serious event occurs.

Causes and Risk Factors

Genetic Factors

The condition is primarily caused by mutations in the SCN5A gene, which encodes a protein crucial for sodium ion flow in heart cells. This defective channel disrupts the electrical balance of the heart, making it more prone to arrhythmias.

Demographic Factors

  • Gender: Brugada Syndrome is more common in men, even though women can also be affected.

  • Ethnicity: It is particularly prevalent among people of Southeast Asian descent, including populations from Thailand, the Philippines, and Japan.

  • Family History: Having a close relative with Brugada Syndrome or unexplained sudden death increases risk.

Triggering Factors

  • Fever (high body temperature can worsen symptoms)

  • Certain medications (especially those affecting sodium channels)

  • Excessive alcohol use

  • Electrolyte imbalances (such as low potassium or sodium)

Diagnosis

Electrocardiogram (ECG)

Diagnosis usually begins with an ECG (electrocardiogram). Brugada Syndrome has a characteristic ECG pattern known as the “Brugada sign”, which shows specific abnormalities in the right precordial leads (V1–V3).
Sometimes, the ECG may appear normal until triggered by a fever or certain medications.

Additional Tests

  • Drug Challenge Test: A medication (like ajmaline or flecainide) is administered to reveal the Brugada pattern.

  • Genetic Testing: Identifies specific gene mutations and helps screen family members.

  • Electrophysiological Study (EPS): Evaluates how easily dangerous rhythms can be induced in the heart.

Early detection through screening can be lifesaving, especially for those with a family history of sudden cardiac death.

Treatment Options

There is no permanent cure for Brugada Syndrome, but treatments focus on preventing life-threatening arrhythmias.

1. Implantable Cardioverter-Defibrillator (ICD)

An ICD is the most effective treatment for people at high risk of cardiac arrest. The device continuously monitors the heart’s rhythm and delivers an electric shock if a dangerous arrhythmia occurs, restoring a normal heartbeat.

2. Medications

Certain drugs, such as quinidine, may help stabilize heart rhythm by affecting ion channel function. However, medication use must be closely monitored by a cardiologist.

3. Catheter Ablation

In some cases, doctors use a catheter ablation procedure to destroy small areas of heart tissue responsible for abnormal electrical activity.

4. Lifestyle Management

  • Avoid medications known to trigger Brugada patterns.

  • Treat fevers promptly with antipyretics (like paracetamol).

  • Limit alcohol intake.

  • Maintain electrolyte balance through proper nutrition and hydration.

Living with Brugada Syndrome

While Brugada Syndrome can be frightening, many individuals lead full and active lives with proper management.
Regular follow-ups with a cardiologist or electrophysiologist, along with awareness of triggers and early intervention, can greatly reduce the risk of complications.
Family members of affected individuals should also consider genetic counseling and screening, as the condition can be inherited.

Conclusion

Brugada Syndrome is a silent but serious heart condition that affects the heart’s electrical system, often without warning. Awareness, early diagnosis through ECG, and appropriate preventive measures—like ICD implantation or lifestyle changes—can be lifesaving.
If you or someone in your family experiences fainting spells, irregular heartbeats, or has a history of sudden unexplained deaths, consulting a cardiologist is essential.



International Conference on Cardiology and Cardiovascular Medicine

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Brugada Syndrome: Causes, Symptoms, Diagnosis, and Treatment

Brugada Syndrome is a rare but potentially life-threatening heart condition that disrupts the heart’s normal electrical rhythm. Although it...