Brugada syndrome is an inherited condition that can causes a disruption in the normal rhythm of the heartbeat. A typical heartbeat is caused by an electrical impulse and controlled by channels in the heart cells. Brugada syndrome causes a specific disruption to that electrical signal and leads to an abnormal heartbeat.
There is no precise data outlining how many people have Brugada syndrome. The condition is much more common in Asian and Southeast Asian countries and is more likely to be diagnosed in men than in women.
Brugada syndrome can cause a person to feel dizzy, faint, or experience cardiac arrest. Sudden death and Sudden Infant Death Syndrome (SIDS) may also occur as a result of the abnormal heartbeat associated with Brugada syndrome. Symptoms may occur at rest or be triggered by fever, dehydration/electrolyte imbalance, or the use of certain medications.
Brugada syndrome is diagnosed by observation of the specific electrical pattern on electrocardiogram (EKG/ECG) and at least one other clinical finding (other, specific abnormalities of the heartbeat, family history of sudden death or specific Brugada pattern, nighttime fainting or gasping) and/or a disease-causing genetic variation.
Genetic testing can confirm the diagnosis of Brugada syndrome in an individual with clinical features. Genetic testing can also help to identify which family members have Brugada syndrome and which do not, once a family member has a known genetic cause for their Brugada syndrome. This can be very important since not everyone with Brugada syndrome experiences symptoms.
A negative genetic test result in an individual with Brugada does not mean the individual does not have Brugada. It simply means we have not yet identified what caused Brugada for this individual. Not all individuals with Brugada will have a positive genetic test result.
In order to prevent cardiac arrest and death, individuals with symptoms of Brugada syndrome may be treated through a combination of medication to control the heartbeat, lifestyle adjustments, avoidance of fever and electrolyte imbalance, and when appropriate, implantation of cardioverter defibrillator (ICD) to monitor and reestablish typical heartbeat. Your cardiologist can help you to make informed medical decisions and provide an opportunity to start risk reduction strategies.
While genetic testing may help clarify a diagnosis of Brugada, the results of genetic testing will not predict the frequency or severity of the symptoms. Genetically establishing the diagnosis of Brugada syndrome can be helpful in knowing which medications and drugs to avoid.
Family testing is important because relatives may be at risk regardless of whether or not they are experiencing any symptoms.
Your physician will assist you in identifying and arranging for the appropriate genetic test(s). If you have specific questions or concerns about the testing, your physician may refer you to a genetic counselor to discuss further. Once you are ready to proceed with genetic testing, you will need to submit either a blood or saliva sample.