Brugada Syndrome

What is an Brugada Syndrome?

Brugada syndrome, also referred to as sodium channelopathy,  is a rare but serious life-threatening hereditary heart condition that often goes unnoticed until a physician orders an ECG.

Men are affected far more often than women. The pattern produced indicates the disorder, but because it is not always well-defined, a red flag is not always immediately raised. When the condition is suspected, patients may be given an intravenous medication to better enhance the pattern.

The syndrome leads to irregular ECG findings and is caused by a mutation in the cardiac sodium channel gene.  In many cases, no other signs of heart problems exist. In other situations, it becomes the missing piece to the puzzle after experiencing troubling and potentially dangerous symptoms.

Diagnosis is based on the characteristic ECG patterns in combination with other clinical criteria such as ventricular fibrillation, polymorphic ventricular tachycardia, family history of heart diseases and death, presence of syncope,  nocturnal agonal respiration.

What are the Symptoms of Brugada Syndrome?

The symptoms of brugada syndrome often mimic other heart arrhythmia problems. That is why an ECG is extremely important. Symptoms can be induced by fever and certain other drugs including antidepressants or antiarrhythmic medication.

Symptoms include

  • Syncope (fainting spells)
  • Heart palpitations or irregular heartbeat
  • Fast heartbeat

Brugada Syndrome Causes

Brugada syndrome is a genetic disease caused by a mutation in the cardiac sodium channel gene, also known as sodium channelopathy. The gene mutation causes the heart to be arrhythmic, or have an abnormal rhythm. This abnormal heartbeat can result in fatality.

There are many different kinds of mutations of this gene – over 50 – and the majority of them are spontaneous mutations; even so, autosomal dominant inheritance and familial clustering have been shown to be a kind of commonality in the mutations of this gene. In other words, there is not much scientific understanding surrounding the syndrome except that there is a strong hereditary component to the condition. However, the disease has been observed in individuals without family history of the disease. This may be caused by a new and sudden mutation in the gene in the specific individual. While there is a strong hereditary component of the disease, a person can have the disease without having a close relative with the disease.

How is an Brugada Syndrome Treated?

Whenever a heart problem could be the cause of unexplained fainting spells and/or irregular and erratic heartbeats, the situation becomes a medical emergency. If brugada syndrome is diagnosed, the physician may order an electrophysiology test (EP testing) to find out how easily an irregular heartbeat is initiated.

Treatment includes

  • An implantable cardioverter-defibrillator to monitor and control irregular heartbeats
  • Oral medication such as quinidine to prevent life-threatening arrhythmias

Since brugada syndrome is a hereditary and potentially deadly condition, genetic testing may be recommended for family members.

Brugada Syndrome Prevention

To date, there is no known method of prevention against Brugada syndrome. Because of the mystery surrounding the genetics of the disease, it is impossible to prevent or even confidently know who will get it. However, an early diagnosis may help allow for treatment in order to potentially avoid fatality as a result of the syndrome. A diagnosis is possible with the help of genetic testing.

Unfortunately, there are very few effective treatment options for patients who suffer from Brugada syndrome. There is only one form of treatment which has experienced consistently effective and positive results, and that is the implantation of a device known as an implantable cardioverter – defibrillator (ICD). Quinidine is a recently discovered alternative for individuals for whom an ICD may not be a viable option. Quinidine is a drug which can help reduce the likelihood of ventricular fibrillation episodes, the leading cause of death in individuals with the disease.