What is Brugada syndrome?

What is Brugada syndrome?

Brugada syndrome, recognised as a clinical entity since 1992, is a rare inherited heart rhythm disorder characterised by specific alterations of the electrocardiogram and a risk of arrhythmias that can lead to sudden death. It is an arrhythmogenic condition with a genetic basis that causes electrical instability in the heart. The main symptom of this syndrome is arrhythmia and without specific treatment it can lead to dramatic consequences in terms of the patient's health. Most of the patients with Brugada syndrome do not show any symptoms. Often, the condition is diagnosed or suspected incidentally in a routine cardiac check-up.

What is the frequency of its occurrence?

Brugada syndrome affects about 5 people per 5,000 inhabitants. Recent scientific reports suggest that Brugada syndrome is probably responsible for 20% of sudden deaths in people with a normal heart structure. 

What are the symptoms of Brugada syndrome?

The symptoms of Brugada syndrome are associated with the occurrence of ventricular arrhythmias. Ventricular arrhythmias can cause a variety of discomforts, some of which include the following:

• Intense dizziness 
• Fainting (syncope)
• Dyspnea
• Arrhythmia or palpitations
• Fast and chaotic heartbeat

Under what conditions do arrhythmias occur?

• Arrhythmias occur mainly during sleep, after rich meals or at rest and the condition most commonly affects young men in the 3rd-4th decade of life. 
• During physical exercise there is no increased risk of arrhythmias (if no other pathological conditions coexist) and electrocardiographic changes tend to subside. 
• The occurrence of symptoms in childhood is extremely rare. 

Brugada syndrome and risk of sudden death

In cases where arrhythmias do not stop automatically, they can lead to sudden death. In some cases, sudden death may be the first manifestation of the disease. The percentage of patients with Brugada syndrome in whom cardiac arrest occurs is 10-12%. On the other hand, 20-25% of patients experience at least one episode of syncope. 

When should you see a doctor?

If you suspect you have arrhythmias accompanied by other strong symptoms like the above, call for help immediately, even if you are alone. Your priority is to get to the hospital and receive medical treatment. 

If you have a family history of Brugada syndrome or have any of the above symptoms, contact your doctor, even in the absence of symptoms. If it has happened to you in the past, make sure you are taking the necessary treatment according to medical protocol. Finally, if you know you have Brugada syndrome and are suffering from a high fever, seek medical attention immediately. 

Risk factors for the development of Brugada syndrome

Risk factors increase a person's chances of developing a particular disease. Factors that can increase the risk of developing Brugada syndrome are:

• Age. The syndrome most often affects young people.
• Nationality. The syndrome most often affects people from the South East Asian region. It is not a common condition in the western world.
• Gender. Brugada syndrome mainly affects young or middle-aged men and some women. 
• Family history. A positive family history of Brugada syndrome increases the risk of developing it in another family member.
• Fever. It is extremely important to treat fever promptly with drugs capable of preventing its prolongation, since it is a condition that triggers arrhythmic events in patients suffering from Brugada syndrome.

Diagnosis of Brugada syndrome

In addition to taking a history and clinical examination, some tests are necessary to establish the diagnosis of Brugada syndrome. The diagnosis is made in the following ways:

• Electrocardiogram (ECG). The condition is characterised by specific alterations in the ECG that distinguish Brugada syndrome into type I and diagnostic variants of type 2 and 3. To make the diagnosis, the ECG must be of type 1 (Fig. 1).

Figure 1. 

• Administration of medicines. In patients with a suspicious but not diagnostic ECG, it is necessary to perform further diagnostic procedures through the administration of drugs, which in those suffering from the syndrome cause the manifestation of the characteristic type 1 morphology on the electrocardiogram.  

• Genetic testing. Once the clinical diagnosis has been confirmed, a blood sample should be taken for genetic testing to identify the genetic abnormalities responsible for the condition. It is extremely important, after the diagnostic procedure is completed, that the relatives of the affected person undergo a careful clinical evaluation and perhaps also genetic testing.
• Electrophysiological study. To further assess the risk of arrhythmias in patients in whom the typical ECG alterations are present, an electrophysiological study with programmed electrical impulses (a test performed by cardiac catheterisation) may be recommended. 

What is the treatment for patients with Brugada syndrome?

Currently, there are no proven effective medications for Brugada syndrome. The lack of an effective medication means that it is very important to correctly identify the patients at highest risk of arrhythmias to be included in the subgroup of candidates for defibrillator implantation. At present, there is a general expert consensus on the subject that considers all patients with a history of syncope and type 1 ECG on Holter 12 leads to be at high risk.

Implantable cardioverter defibrillator (ICD)

In patients who have experienced cardiac arrest or are at high risk of cardiac events, it is recommended to implant defibrillator (ICD - Implantable Cardioverter Defibrillator).

Medication

Η quinidine is an antiarrhythmic drug that could be effective in preventing recurrences in patients who have experienced cardiac arrest or in reducing the risk of ICD defibrillator discharges in more symptomatic patients.

There is also a list of medications and metabolic conditions to avoid that is given to the patient during the visit, so that they are as informed as possible (for the full list see: www.brugadadrugs.org)

What do we do at the "Agios Loukas" Clinic for Brugada syndrome?

We have extensive experience in the management of patients with Brugada syndrome, both in the diagnosis of the syndrome and in its treatment. 

Regarding the diagnosis, when a syndrome is suspected, if the electrocardiographic changes are not fully documented, we may subject the patient to a confirmatory drug test. Then, in case of syncopal episodes, we can subject the patient to a tilt test and an electrophysiological study. We also collaborate with molecular and genetic cardiology laboratories in Greece and abroad for genetic testing of patients. 

Therapeutically, we can implant an intravenous or subcutaneous defibrillator or abort the arrhythmia in case of an electrical storm. 

Also, we have applied - in collaboration with a cardiac surgeon - the denervation of the sympathetic system of the heart in case of electrical storm in patients with Brugada syndrome and implantable defibrillator, with great success in the control of arrhythmia, which is a Greek and international prototype for this clinical entity. 

This work was presented at the European conference on electrophysiology and pacing in Vienna in 2016.

Frequently asked questions about Brugada syndrome

1. Is physical activity allowed in patients with Brugada syndrome?

There are no contraindications for physical exercise and sports for patients with Brugada syndrome, since the events occur mainly at rest. However, sport at a professional level is prohibited, as is the case for all pathologies with a risk of fatal arrhythmias.

2.  Can I have a normal life if I have Brugada syndrome?

There are very few things you need to change if you have Brugada syndrome. However, you should be aware that if a defibrillator implantation is required, there are certain precautions you need to take. Also, if you are taking over-the-counter medications and supplements, you should discuss this with your doctor from the outset. Some of these may cause symptoms or interact with medications already being taken to reduce the risk of heart arrhythmias.Finally, prolonged (more than one day) or severe episodes of vomiting or diarrhea can affect blood sodium and potassium levels. You should discuss this problem with your doctor, who may prescribe oral hydration supplements. These supplements can help restore sodium and potassium levels, but they should be used under medical supervision. In general, you should always inform medical staff that you have Brugada syndrome.

How to prepare for my appointment

To prepare for your appointment, you can make a list of the following:

• Description of your symptoms
• Record any recent changes in your daily life (emotional stress, change of lifestyle) 
• Any medicines, even dietary supplements you take

What can I ask the electrophysiologist?

To better understand your condition and its symptoms, you can ask your electrophysiologist-cardiologist some of the following questions:

• What makes my heart beat fast?
• What tests do I need to take?
• What is the most appropriate treatment for my case?
• How dangerous is my situation?
• What do I need to change about my activities?
• Do other members of my family need to be tested?
• Is there a chance that my arrhythmia will recur after the treatment?

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