Brugada Syndrome – A Rare Genetic Heart Condition

Brugada Syndrome – A Rare Genetic Heart Condition
March 03 11:52 2025 Print This Article

Summary 

Brugada syndrome is a rare, lethal cardiovascular disease that disrupts the normal rhythm of the heart’s lower chambers, causing arrhythmias. Identified in 1992 by Josep and Pedro Brugada, it affects approximately 3 to 5 in every 10,000 people. Men are 8 to 10 times more likely to have it than women. The syndrome can be triggered by a fever, dehydration, certain medications or substance abuse leading to symptoms like fainting, dizziness and in some cases, sudden cardiac death. Diagnosis typically involves an electrocardiogram (ECG) and may require genetic testing. While there is no cure for this condition, treatment focuses on managing the symptoms through medication, and in severe cases, implantable cardioverter defibrillator (ICD). In extreme cases, the patient may need to undergo radio frequency catheter ablation. Regular monitoring and lifestyle adjustments are crucial for managing this condition.

What Is Brugada Syndrome?

Brugada syndrome is a rare, potentially life-threatening heart condition. It causes the lower chambers of your heart (the ventricles) to beat in an abnormal way. This causes an arrhythmia. The irregular heartbeats can make you faint or even lead to sudden cardiac death (SCD). This often happens while the patient is at rest or asleep. The condition was first identified and described by cardiologists Josep and Pedro Brugada in 1992. Approximately 3 to 5 in every 10,000 people have a genetic predisposition to Brugada syndrome. However, environmental factors like temperature, medications, electrolyte abnormalities and cocaine consumption cause the gene to express itself more. Brugada syndrome is approximately 8 to 10 times more common in men compared to women.

Symptoms of Brugada Syndrome 

Brugada syndrome often doesn’t have any noticeable physical symptoms. Many people with Brugada syndrome do not even know they have it, until they go for a general health checkup and get an electrocardiogram (ECG). People with Brugada syndrome will have an abnormal result on their ECG, which requires further investigation. Patients may also experience dizziness, light-headedness, fainting, difficulty in breathing, heart palpitations, extremely fast heartbeats and seizures. Some patients do not experience any symptoms at all but are hit by sudden cardiac arrest in their sleep.

The symptoms of Brugada syndrome overlap with many other heart conditions, so it is important to see a doctor for further investigation if you are experiencing any of these symptoms.

What Triggers Brugada Syndrome?

A fever can trigger Brugada syndrome, i.e., it can set-off symptoms like breathlessness and heart palpitations. Patients who have Brugada syndrome need to treat fevers and bring them down as soon as possible, even if they have an implantable cardioverter defibrillator (ICD). Other triggers include heat exhaustion, dehydration, sodium channel blockers (medicines that block sodium) and consuming lithium or tricyclic antidepressants. Cocaine, alcohol and marijuana abuse can also trigger Brugada syndrome.

Causes of Brugada Syndrome

Brugada syndrome primarily affects the heart rhythm. The beating of the heart is orchestrated by electrical signals made by special cells in the right upper heart chamber. Brugada syndrome is caused by a change in the transmembrane ion currents that allows the electrical signals to pass through correctly. The exact mechanism by which this happens is still unclear, but there appears to be a connection to mutations in the SCN5A gene which affects how sodium channels function. Patients who inherit this gene mutation may develop Brugada syndrome as a result of any of the triggers discussed above.

Do I Need to Be Screened for Brugada Syndrome?

Brugada syndrome passes through genes, so if you have a first-degree relative (parents, siblings or children) who has the condition or have a strong family history of sudden cardiac death at young age, it is recommended that you get screened for it. Inform your primary doctor or family doctor that you have a family history of Brugada syndrome. They will prescribe the appropriate diagnostic tests and recommend a cardiologist if required.

Diagnosis of Brugada Syndrome

Brugada syndrome is usually diagnosed during adulthood or adolescence. In small children, the symptoms usually go unnoticed. At your first consultation, your doctor will require a physical exam and will listen to your heart rhythms with a stethoscope. The patient’s personal medical history and family medical history (especially family history of sudden cardiac death) is also investigated. This is usually followed by an ECG. This is a painless test in which electrodes are fixed on the chest to record electrical signals in the heart. The ECG helps detect irregularities in the heart beat. If there are irregularities, the doctor may recommend a 24-hour Holter monitor test in which the patient is required to wear a portable heart monitor for an entire day and night. An echocardiogram and an electrophysiological study may also be required to confirm Brugada syndrome. Genetic testing may also be done to confirm if the patient has a mutation in the genes that cause Brugada syndrome.

Management of Brugada Syndrome

Brugada syndrome is one of those unfortunate conditions for which medical science does not yet have a cure. The goal of treatment is to prevent heart arrhythmias as much as possible, and to address them swiftly when they do occur. Patients who have been discovered in screening may not have developed any symptoms till then. Such cases do not usually require any medication, and they may not even develop any serious problems unless exposed to triggers. They will simply be monitored regularly to check the status of their heart health.

Patients who have developed symptoms may be treated with medications such as isoproterenol, quinidine and amiodarone. Patients who have had cardiac arrest or fainting episodes may require intervention. An implantable cardioverter defibrillator (ICD) may be recommended. The ICD is a small battery-operated device which continuously monitors the heart rhythm, and delivers electrical impulses to the heart when it detects irregular heartbeats. If the ICD is not effective in controlling the heart palpitations, the cardiologist may recommend radio frequency catheter ablation. This is a minimally-invasive procedure in which a long flexible tube is inserted through a blood vessel and navigated to the heart. Through the catheter, high frequency radio waves are used to destroy the heart tissue responsible for the arrhythmias.

Patients with Brugada syndrome need regular medical check-ups to make sure the disorder is under control. Regular checkups can help the doctor identify problems early and change the treatment strategy accordingly.

Long-Term Outlook for Brugada Syndrome Patients

Finding out you have Brugada syndrome can come as a shock. It is normal to feel worried about yourself and your immediate family members. There is nothing that can be done to change the fact that you’ve inherited the condition. However, you can follow your treatment plan correctly to minimise your risk of sudden cardiac arrest. You should also treat fevers with paracetamol/ ibuprofen as soon as you feel them starting and always stay hydrated. Avoid cocaine, marijuana and alcohol at any cost. It is also recommended that you check with your doctor about any new medication you need to take for any other illnesses you may have. Avoid strenuous exercise or anything that pushes your heart beat very high. If you plan to have children, you can also undergo genetic counselling to understand your chances of passing on the condition to your child and discuss your options going forward. Most importantly, surround yourself with your loved ones and allow them to support you through your difficulties.

For comprehensive cardiac care and management of conditions like Brugada Syndrome, trust the experienced team at 1win. With branches in Chennai, Hosur, Salem, Tirunelveli, and Trichy, we are committed to providing quality healthcare services tailored to your needs. Visit one of our locations for expert medical guidance and support.

Frequently Asked Questions

What is Brugada Syndrome?
Brugada Syndrome is a rare genetic heart condition that affects the heart’s electrical system, leading to abnormal heart rhythms and increasing the risk of sudden cardiac arrest.

What are the symptoms of Brugada Syndrome?
Symptoms include fainting, dizziness, irregular heartbeats, seizures, and, in severe cases, sudden cardiac death. Some individuals may have no symptoms at all.

How is Brugada Syndrome diagnosed?
Diagnosis typically involves an electrocardiogram (ECG), Holter monitoring, genetic testing, and sometimes an electrophysiological study to assess heart rhythm abnormalities.

Is there a cure for Brugada Syndrome?
There is no cure, but the condition can be managed with lifestyle modifications, medications, and, in severe cases, an implantable cardioverter defibrillator (ICD) or catheter ablation.

Can Brugada Syndrome be inherited?
Yes, it is a genetic condition that can be passed down in families. If a close relative has it, screening is recommended to assess the risk.

 

1win is globally known for its multidisciplinary services at all its Centers of Excellence, and for its comprehensive, Avant-Grade technology, especially in diagnostics and remedial care in heart diseases, transplantation, vascular and neurosciences medicine. Located in the heart of Trichy (Tennur, Royal Road and Alexandria Road (Cantonment), Chennai (Alwarpet & Vadapalani), Hosur, Salem, Tirunelveli and Bengaluru, the hospital also renders adult and pediatric trauma care.

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