What Is Brugada Syndrome?
Brugada syndrome is a rare condition that affects the heart’s normal rhythm. Focused in the lower chambers of the heart (ie ventricles), it creates an irregular rhythm known as ventricular arrhythmia. This irregular heartbeat is the primary symptom of Brugada syndrome and can decrease blood flow to the brain and heart. The decrease in blood flow can cause secondary symptoms of fainting, seizures, difficulty breathing, and sudden death. These symptoms often present when a person is sleeping or resting.1-2
Who is affected?
While Brugada syndrome can affect anyone at any age, it is seen in higher numbers among persons of Asian descent. It has been a major cause of death in the regions of southeastern Asia. Brugada syndrome can also affect both men and women but is seen in higher numbers of men, by as much as 8 to 10 times over the number of women. There is some thought that the higher levels of testosterone present in the male body may account for that difference. While exact numbers are unknown, it is estimated that 5 in every 10,000 people worldwide are affected by Brugada syndrome.1-2
What causes Brugada syndrome?
Brugada syndrome is typically caused by a genetic mutation to one of several genes, the most common being the SCN5A gene. This gene is responsible for regulating the sodium channels in the heart. This mutation can lead to a decrease in the amount of sodium getting to the heart. When the heart does not receive enough sodium from the gene regulating the path that carries it, the irregular heart rhythm can be the result which can lead to sudden death. This genetic mutation is inherited. In the case of Brugada syndrome, only one parent needs to have had this mutation to the SCN5A gene for it to be passed on.
Brugada syndrome can also be acquired instead of inherited. Certain drugs a person may be taking, such as those to treat certain arrhythmias, angina, high blood pressure, depression, and other mental illnesses may cause irregular heartbeat. Other people without the genetic mutation have shown high levels of calcium and either high or severely low levels of potassium. These factors that can contribute to acquired Brugada syndrome can also trigger symptoms in those with the genetic mutation to SCN5A.1-2
Brugada syndrome is diagnosed through an evaluation by a doctor which includes a detailed discussion of family history, particularly if that history includes any family members who had a sudden death. An electrocardiogram (EKG or ECG) is ordered to evaluate the electric activity associated with the heartbeat. The doctor may use certain sodium channel blockers to cause a response on the EKG that would be characteristic of Brugada syndrome. Genetic testing may also be recommended to determine if a person has the specific SCN5A gene mutation for Brugada syndrome.1-3
At this time there is no cure for Brugada syndrome. Those who present as being significantly high risk for ventricular fibrillation (when the lower heart chambers contract in a rapid, uncoordinated way, resulting in the reduction of blood flow throughout the body) may be recommended for having an implantable cardiac defibrillator (ICD) surgically implanted to monitor their heart rhythms. If an abnormal rhythm occurs, the ICD sends an electrical impulse to reestablish a normal rhythm. Brugada syndrome is difficult to treat, given that the first symptom is often sudden death. Those who are diagnosed with the gene mutation are encouraged, along with their family members, to undergo genetic counseling.1-3
Two specific manifestations of Brugada syndrome are certain cases of sudden infant death syndrome (SIDS) and sudden unexpected nocturnal death syndrome (SUNDS). SIDS affects children worldwide under the age of 1. These infants are found to have died, often in their sleep, having had no other health concerns. SUNDS has been a significant cause of death in southeastern Asia in adults around age 40 who experience a heart attack in their sleep. These adults have also had no other discernible health concerns.1-2
Have you ever avoided going to the doctor out of fear?