The exact prevalence is unknown, but it’s estimated that about 5 in 10,000 people are affected by Brugada syndrome worldwide.
Continue reading to learn more about Brugada syndrome, its causes, and how it’s diagnosed and treated.
In Brugada syndrome, the ventricles of your heart beat with an abnormal rhythm. This means that the electricity goes from the bottom chambers to the top chambers, instead of the normal (top to bottom) pathway of conduction.
This results in ventricular arrhythmia called ventricular tachycardia or ventricular fibrillation. When this occurs, your heart can’t effectively pump blood to the rest of your body and can lead to cardiac arrest or passing out.
The cause of Brugada syndrome is often genetic. However, it can sometimes be acquired as well. We’ll explore both types below.
Inherited Brugada syndrome
In many cases, genetic mutations can lead to Brugada syndrome. These mutations can either be inherited from a parent or be due to new gene mutations that are acquired.
There are several gene mutations that are associated with Brugada syndrome. Mutations in a gene called SCN5A are the most common. It’s estimated that
SCN5A is responsible for making a protein called a sodium ion channel. Sodium ion channels allow sodium ions into the heart muscle, directing the electrical activity that causes your heart to beat.
When SCN5A is mutated, the ion channel cannot function properly. This, in turn, affects the way your heart beats.
There are other gene mutations that can lead to Brugada syndrome as well. These mutations may also affect the location or functioning of sodium ion channels. Other important ion channels, such as those that transport potassium or calcium, can be affected as well.
Acquired Brugada syndrome
Some people with Brugada syndrome don’t have a gene mutation that’s been associated with the condition. In such cases, other factors may cause Brugada syndrome to occur, including:
- use of certain medications, such as specific drugs used to treat other arrhythmias, high blood pressure, or depression
- use drugs like cocaine
- electrolyte imbalances, particularly in potassium and calcium
It’s also important to note that any of the factors above can also trigger symptoms in someone with inherited Brugada syndrome.
Many people don’t know that they have Brugada syndrome. This is because the condition either doesn’t cause noticeable symptoms or causes symptoms that are similar to other arrhythmias.
Some signs that you may have Brugada syndrome include:
- feeling dizzy
- experiencing heart palpitations
- having an irregular heartbeat
- gasping for breath or having difficulty breathing, particularly at night
- sudden cardiac arrest
Symptoms can also be brought on by a variety of factors, including:
In addition to a physical examination, your doctor will perform the following tests to help diagnose Brugada syndrome:
An ECG is used to measure the electrical activity that occurs with each beat of your heart. Sensors placed on your body record the strength and timing of the electrical impulses generated with each heartbeat.
These impulses are measured as a wave pattern on a graph. Based off of the pattern that’s generated, your doctor can identify irregular heart rhythms. There are specific ECG wave patterns that are associated with Brugada syndrome.
A regular ECG may not be enough to diagnose Brugada syndrome. Your doctor may give you a specific medication during an ECG that can help reveal Brugada-specific wave patterns in people with Brugada syndrome.
Your doctor may want to perform an EP test if your ECG indicates that you may have Brugada syndrome. An EP test is more invasive than an ECG.
In an EP test, a catheter is inserted into a vein in your groin and threaded up to your heart. The doctor then directs electrodes through the catheter. These electrodes measure electrical impulses at different points on your heart.
Your doctor may recommend genetic testing, particularly if someone in your immediate family has the condition. A sample of blood is collected that can be tested for gene mutations known to be associated with Brugada syndrome.
There are a few risk factors for developing Brugada syndrome. These include:
- Family history. Since the mutations that cause Brugada syndrome can be inherited, if someone in your immediate family has it, you may have it as well.
- Sex. Although the condition can affect both males and females, it’s
8 to 10 timesmore common in men than in women.
- Race. Brugada syndrome appears to occur more frequently in people of Asian ancestry.
There’s currently no cure for Brugada syndrome. However, there are ways to avoid experiencing potentially life-threatening symptoms.
This is a small medical device that’s placed under the skin on the chest wall. If it senses that your heart is beating irregularly, it will send out a small electric shock to help return your heartbeat to normal.
These devices can cause complications of their own, such as delivering shocks when your heart isn’t beating regularly or infection. Because of this, they are typically only used for people that are at high risk for dangerous heart rhythms.
High-risk individuals include those that have a history of:
- serious problems with heart rhythm
- surviving a previous sudden cardiac arrest
A drug called quinidine can help prevent dangerous heart rhythms. It can be useful as a supplemental treatment in people with an implanted defibrillator, and also as a treatment in people who can’t receive an implant.
Radiofrequency ablation is a new and emerging treatment for Brugada syndrome. It involves carefully using an electric current to destroy the areas believed to be causing abnormal heart rhythms.
The long-term effectiveness of the procedure and risk of recurrence is still being determined. Therefore, it’s currently recommended for people with frequent symptoms and is still somewhat experimental.
Since there are some known factors that can trigger the symptoms of Brugada syndrome, you can take steps to avoid them. These include:
If you experience heart palpitations or an irregular heartbeat, it’s always a good rule of thumb to see your doctor. While Brugada syndrome may not be the cause, you could have another heart rhythm condition that needs treatment.
Additionally, if someone in your immediate family has Brugada syndrome, speak with your doctor. They may advise genetic testing to determine if you have Brugada syndrome as well.
Brugada syndrome is a condition that affects the rhythm of your heart. This can lead to serious or life-threatening conditions, such as heart palpitations, fainting, and even death.
Brugada syndrome can occur from genetic mutations or be acquired due to other conditions like specific drugs or electrolyte imbalances. Although there’s currently no cure for Brugada syndrome, there are ways to manage it in order to prevent dangerous symptoms or cardiac arrest.
If you suspect you have Brugada syndrome or have someone in your family that does, speak to your doctor. They can help to determine if you have Brugada syndrome or another arrhythmia that requires treatment.