Brugada syndrome is heart disease, the second biggest killer of males below the age of 40. Read the article about Brugada syndrome and get to know it.
In 1992, two brothers, Joseph and Pedro Brugada, discovered this disease. It was causing sudden death by ventricular fibrillation.
Brugada syndrome is a genetic disorder that results in a heartbeat that appears severe and irregular. This disease is a conduction disorder characterized by an incomplete right bundle branch block and a coved-type ST elevation of more than 2 mm in leads V1 to V3. In the Philippines, it is known as "to rise and moan sleep." Since most people with Brugada syndrome die in their sleep, it is also called sudden and unexplained nocturnal death syndrome.
When an electrocardiogram is taken, a specific characteristic pattern is seen in the ECG, which resembles Brugada, but actually, the person has no underlying disease. This is called the Brugada ECG pattern.
This disease was more prevalent in people of Asian origin than the American and European population, of which type 2 and 3 ECG patterns are most common. The average age of patients that die from this disease is around 35 to 40 years.
The following factors increase the risk of getting Brugada syndrome:
The following are the signs and symptoms of Brugada syndrome:
Cardiac arrest and syncope, which occur primarily in the time of rest or sleep.
ST-elevation leads V1 to V3, which is most noticeable during a routine electrocardiogram.
Fever is often the trigger.
Chest pain, dizziness, palpitations, and breathlessness may be seen occasionally.
Rapid heart rate.
Brugada syndrome is mainly caused by a genetic mutation of a gene known as SCN5A. It is the gene that encodes sodium ion channels in the cell membrane of heart muscles. Only about 20 % of patients with this disease have a mutation in this gene. And some other patients have a defect in other genes.
It can either be genetic or acquired; it can either be inherited from a parent, or a congenital disability can occur in that individual without any inheritance. Even with a defective gene, there can be times when Brugada syndrome does not cause any symptoms and remains inactive.
Any of the following can unmask Brugada syndrome:
Problems with electrolyte balance.
Conditions that cause fever.
1. ECG (Electrocardiography):
ECG shows a coved-type ST elevation in leads V1 to V3.
2. Genetic Testing:
People with a family history of sudden death should be genetically tested for a mutation in SCN5A.
3. Laboratory Test:
Check for serum potassium and calcium levels in patients with ST-elevation, as an increase in potassium and calcium can generate ECG patterns similar to Brugada syndrome.
An echocardiogram helps in diagnosing Brugada syndrome with the help of sound waves. It also helps in ruling out structural problems of the heart.
5. Electrophysiology Test:
When symptoms of Brugada syndrome or cardiac arrest occur, electrophysiology tests help detect abnormality in heart rhythm. A catheter is inserted into the vein through which electrodes are inserted. It helps in diagnosing irregular heartbeats.
The risk of developing abnormal heart rhythm can be reduced by:
Antipyretic drugs are to be taken soon after a fever has been diagnosed.
Competitive sports should be avoided.
Drugs taken for heart problems or antidepressants increase the risk of developing heart rhythm problems and should be avoided.
Surgical and Other Treatment Methods:
Implantable Cardioverter-Defibrillator - The most effective treatment at this moment is by implanting an automatic implantable cardioverter-defibrillator. It is a small device operated with the help of a battery and helps in monitoring heart rhythm. When an abnormality is detected, electrical shocks help control abnormal heart rate.
Catheter Ablation - When an implantable cardioverter-defibrillator is not adequate, radiofrequency catheter ablation is used. A catheter is inserted, which destroys the heart tissues that cause heart rhythm problems by delivering high energy.
Drug Therapy - Along with implantable cardioverter-defibrillators, Quinidine may be used to detect abnormal heart rhythm.
When Brugada syndrome exhibits complications, it is recommended to seek immediate medical attention. The following are the complications of Brugada syndrome:
Fainting - With Brugada syndrome, fainting is not a common medical condition and requires immediate medical care.
Sudden Cardiac Arrest - It is characterized by the sudden loss of heart function, problems in breathing, and loss of consciousness. When adequate medical help is not sought at the right time, a fatality occurs. However, it most commonly occurs in sleep, so identifying and preventing it is very difficult.
Brugada syndrome cannot be prevented as a whole; however, specific precautionary measures to reduce the risk of complications can be taken. Early detection helps in taking adequate preventive steps. When there is a family history of the disease, genetic testing can help diagnose or determine the risk of Brugada syndrome.
The symptoms of Brugada syndrome are:
- Irregular heartbeats (ventricular arrhythmias).
- Difficulty in breathing.
- Loss of consciousness or fainting (syncope).
- Sudden death.
- Extremely fast and chaotic heartbeat.
The Brugada syndrome is well identified with the potentially diagnostic ECG (electrocardiogram) abnormality, where a coved ST-segment elevation >2 mm in >1 of V1-V3 is seen, followed by a negative T wave. This is referred to as the Brugada sign.
There is no cure for Brugada syndrome so far. They are treated with an implantable cardioverter-defibrillator (ICD) to automatically detect the abnormal heartbeat in high-risk ventricular fibrillation patients. This device delivers an electrical impulse to the heart to restore the normal rhythm.
On average, people with Brugada syndrome die between 25 to 55 years of age, with an average age of 40 years. It is considered the major cause of cardiac death in men under 40 years of age, and if treated, the patients could lead their normal life.
People born with Brugada syndrome do not usually know they have the disease until they reach 30 to 40 years of age. It is an unusual genetic disorder of the heart and can be identified with syncope or heart palpitations.
Brugada syndrome worsens with the ST abnormalities on exercise and produces ventricular arrhythmias, suggesting that Brugada syndrome patients should restrict vigorous exercise.
Brugada syndrome is also called nocturnal death syndrome because people often have a sudden, unexplained death during sleep. But this disease is often rare, and it affects about five people in every 10,000 people worldwide.
Brugada syndrome is a genetic disorder with an inherited autosomal dominant pattern. It is caused by a copy of an altered gene in each cell, and mostly the affected persons have one parent with the same condition.
Brugada syndrome is diagnosed with,
- Complete clinical evaluation.
- Medical history.
- Family history - Family history of sudden cardiac death.
- Electrocardiogram (ECG or EKG).
- Molecular genetic (DNA) testing.
Brugada syndrome could be caused by:
- Abnormality in the heart, which is hard to detect.
- An imbalance in chemicals that balances the electrolytes in the body.
- Use of certain medications or cocaine.
Last reviewed at:
09 Feb 2022 - 4 min read
Query: Hello doctor, I have been feeling unwell for a long time. These are my recent blood results. My doctor says that my hematocrit, RBC count, hemoglobin and mean cell volume have been out of the normal range for at least 10 years as that is how far back he can see. I think it should be investigated. W... Read Full »
Query: Hi doctor, Can normal tests tell that a person will have abnormal kids or no kids at all? Please explain. Read Full »
Query: Hi doctor, Post MI (after one year) ventricular bigeminy is diagnosed. I am describing my cardiac problem. Please give your valuable suggestion. My problem is exactly one year back which was MI. Treatment started after 20 minutes with Reteplase and other drugs. Next day at 9 AM, I underwent angiogr... Read Full »
Most Popular Articles
Do you have a question on Genetic Testing or Implantable Cardioverter Defibrillator?Ask a Doctor Online