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Brugada syndrome

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Overview

Brugada syndrome is an uncommon disorder that results in an irregular heart rhythm in the lower heart chambers or ventricles. Brugada syndrome can be inherited.

Brugada syndrome can trigger ventricular fibrillation, a life-threatening heart rhythm that prevents the heart from pumping blood to the brain.

The abnormal heartbeat might result in syncope and sudden cardiac death (SCD). This frequently occurs while one is resting or sleeping.

Cardiologists made the discovery of Brugada syndrome in 1992, and since then, ongoing research continues to explore this condition and its potential remedies. At present, treatment options involve carefully managing fever and avoiding medications that may trigger arrhythmias. Considering the use of an implantable cardioverter-defibrillator (ICD) in some people with Brugada syndrome. Researchers are diligently working to advance our understanding of the syndrome and develop more effective treatments.

Symptoms

More than 70% of Brugada syndrome patients have no symptoms. Most people with Brugada syndrome are unaware that they have it. Occasionally, the problem is discovered by an electrocardiogram (EKG), a test that monitors the electrical activity of the heart.

Common signs and symptoms may include:

  • Dizziness
  • Syncope, or fainting
  • Excessive gasping and laborious breathing, especially at night
  • Heart palpitations, a fluttering or flip-flopping sensation in your chest
  • Ventricular arrhythmia, an abnormal heart rhythm that develops in your heart’s bottom chambers
  • Atrial fibrillation, also known as AFib, is a rapid and irregular heart rhythm originating in the upper chambers of the heart.
  • Cardiac arrest can serve as the initial symptom and the underlying cause for some infants and children with Brugada syndrome who tragically pass away in their sleep.
  • Seizures

The signs and symptoms of Brugada syndrome are similar to those of other heart rhythm abnormalities. It is critical to see a doctor to figure out what’s causing the issue.

If someone experiences a loss of consciousness and suspects it could be related to a heart condition, it is of utmost importance to seek urgent medical assistance immediately.

For individuals with a family history of Brugada syndrome, especially if a parent, sibling, or child has been diagnosed with the condition, it is strongly advised to undergo consultation and testing with a healthcare professional. Early detection and appropriate management can be crucial in ensuring the best possible outcomes for those at risk.

Immediate medical care is necessary in the event of cardiac arrest. If an individual is unable to call for help themselves, it is crucial for someone in their vicinity to assist. For those at risk of cardiac arrest, it is recommended to encourage family members to undergo CPR training and to contact emergency services. Informing coworkers about the vulnerability can also be beneficial in case assistance is needed.

Causes

Approximately 70% of patients with Brugada syndrome have no known genetic mutation. Others, on the other hand, have a genetic mutation in one of 18 or more genes. These mutations disrupt the conduction of cardiac signals in the heart.

Brugada syndrome is a cardiac arrhythmia that can result in a hazardous heart rhythm or ventricular fibrillation. An alteration in the channels responsible for guiding the electrical activity in the heart causes the heart to beat too quickly.

Consequently, insufficient blood is pumped by the heart to the other parts of the body. Temporary episodes of an irregular heartbeat can lead to fainting. If the irregular heart rhythm persists, it can potentially result in sudden cardiac death.

Generally, possible causes of this condition include:

  • A structural heart condition that may be difficult to detect
  • An imbalance of electrolytes that aid in the transmission of electrical signals through the body
  • Use of cocaine or some certain medications

Risk factors

Risk factors for Brugada syndrome include:

  • Family history: Having Brugada syndrome in one’s family raises one’s chances of getting it as well. The condition can be inherited with just one copy of an afflicted gene from one parent. Any child with a Brugada-related gene mutation has a 50% probability of inheriting it.
  • Gender: Brugada syndrome is more common in individuals who are born male. Men are eight to ten times more likely to have the illness than women.
  • Race: This medical condition appears to be more prevalent in Japan and Southeast Asia.
  • Fever: Brugada syndrome symptoms may be triggered by a fever, which is why individuals with this condition should promptly address fevers. Fever can potentially irritate the heart and lead to fainting or sudden cardiac arrest, especially in young individuals. However, it’s important to note that fever alone does not cause Brugada syndrome. The condition is a distinct and separate genetic cardiac disorder that can be exacerbated by fever in susceptible individuals.

Diagnosis

The diagnosis of Brugada syndrome often involves performing a physical exam, evaluating one’s medical and family history, and doing several tests.

Brugada syndrome is often diagnosed in adults and, in rare cases, teenagers. Because the symptoms are generally missing in young children, it is rarely detected. Tests are performed to monitor the heartbeat and to diagnose Brugada syndrome.

  • Physical examination: During a physical exam, the healthcare provider will check the heart through a stethoscope.
  • Electrocardiogram (ECG or EKG): A typical Brugada syndrome pattern may not be present at the first ECG, repeating the test two more times may be necessary. To capture the pattern, they may relocate the sensors between tests. This test measures the electrical activity in the heart that causes it to beat. Sensors or electrodes are placed on the chest and sometimes the limbs during the test.

A 24-hour Holter monitor test may be recommended if the heart rhythm appears regular during the initial examination. This portable device monitors the heart continuously for a full 24-hour period.

In some cases, additional ECGs may be requested of those who suffer from the disease, but their initial electrocardiograms (ECGs) and 24-hour Holter tests are within the normal range. The healthcare provider may give medication before doing an EKG to help the Brugada pattern appear on the EKG printout. This may be referred to as a drug challenge test. Medications are often administered via IV that might cause an irregular heartbeat.

  • Echocardiogram: While this test alone cannot provide a diagnosis for Brugada syndrome, it can assist in identifying any structural abnormalities present in the heart. By utilizing sound waves, an echocardiogram generates images of the heart.
  • Electrophysiological (EP) testing and mapping: During the procedure, catheters are inserted into the heart via the femoral or leg veins. These catheters detect electrical activity within the heart. This test may be ordered if the diagnosis remains unclear following previous tests. EP study is a detailed evaluation of the electrical activity in the heart.

Treatment

Brugada syndrome does not have a specific cure. The primary objective of treatment is to prevent ventricular arrhythmias and manage them if they occur. Asymptomatic individuals with this condition may not require immediate treatment, but they are often advised to take measures to reduce the risk of irregular heartbeats. This can involve lifestyle adjustments and avoiding known triggers that may exacerbate the condition. Regular monitoring and follow-up with healthcare providers are essential to ensure early detection and appropriate management if symptoms or complications arise.

The treatment of Brugada syndrome is based on the risk of having a significantly irregular heartbeat. People with personal history of significant arrhythmias, fainting spells, or survivors of sudden cardiac arrest are at high risk.

Medication, catheter therapies, or surgery to implant a device that controls the heartbeat are among the treatment options.

  • Medications: Individuals diagnosed with Brugada syndrome may receive medical treatment in the form of medications, such as quinidine, to mitigate the risk of developing a potentially life-threatening heart rhythm. In some cases, doctors may prescribe these medications either as standalone therapy or in combination with an implantable cardioverter-defibrillator (ICD) to regulate and stabilize the heart’s rhythm.
  • Treating fever: It is advisable to promptly utilize medications that help reduce fever at the initial indication of an elevated body temperature. Individuals with Brugada syndrome are susceptible to experiencing irregular heart rhythms when they have fever.
  • Avoid triggering medications of an irregular heartbeat: Informing the healthcare provider of all medications including over-the-counter prescriptions and vitamins one is taking is essential in managing Brugada syndrome. Excessive alcohol consumption, some heart medications, and antidepressants, might raise the risk of an irregular heartbeat.
  • Avoid participating in competitive sports: People who are at high risk of having a significant abnormal heart rhythm should consult their healthcare provider before engaging in competitive sports.
  • Surgery or other procedures: Surgery or a catheter treatment may be recommended to patients with Brugada syndrome who have suffered a cardiac arrest or a frightening fainting episode.
    • Implantable cardioverter-defibrillator (ICD): An overnight hospital stay is frequently required for implanted cardioverter-defibrillator (ICD) installation. ICD uses electrical shocks to correct irregular heartbeats as necessary. This compact, battery-powered gadget is implanted in the chest to monitor the heart rhythm continually.
      While implantable cardioverter-defibrillators (ICDs) are valuable medical devices, they are not infallible. There are potential risks associated with their use, such as the possibility of delivering a shock at an inappropriate time, experiencing malfunctioning leads, or developing infections.
    • Radiofrequency catheter ablation: This procedure involves the insertion of a catheter through a blood vessel, which is then guided to the heart. Through the catheter, high-energy radiofrequency waves are delivered to intentionally create scar tissue or destroy the heart tissue responsible for the irregular heart rhythm. Radiofrequency catheter ablation may be recommended in cases where an ICD fails to adequately and safely manage symptoms associated with Brugada syndrome.

For individuals with Brugada syndrome, regular health checkups play a vital role in effectively managing and controlling this heart rhythm disorder. These routine examinations serve to promptly detect any potential complications and assess the need for treatment adjustments if required.

Additionally, it is crucial to steer clear of factors known to trigger Brugada syndrome symptoms and promptly report any unusual occurrences to healthcare providers. By adhering to these practices, individuals can better safeguard their health and enhance their overall well-being while living with this condition.

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Diseases & Conditions Brugada syndrome