Brugada Syndrome

There is a genetic disorder that causes sudden cardiac death known as the Brugada Syndrome. Although it is quite easy to guess who discovered it, the syndrome itself is so discrete that it become one of the worst enemies for its sufferers. Often those affected, more exposed to death than others, have entirely normal electrocardiograms, or ones displaying a pattern that is very difficult to interpret by specialists without in-depth knowledge of the syndrome. However, there is also good news; once the Brugada Syndrome is diagnosed, it is relatively simple to control. Still, we shouldn't forget that the difficulty lies precisely in reaching this point, the diagnosis. This disease is responsible for 4-12% of unexpected sudden cardiac deaths worldwide, especially among the young.

Various studies show that the syndrome generally appears in adults, at around 40 years of age on average. However, the Brugadas have witnessed cases in patients ranging from 2-year-olds to 74 year old men.

Expectation in the scientific community

The syndrome was observed for the first time in a three-year-old Polish girl, who displayed the same patterns as her sister, a victim of sudden cardiac death. The Brugada brothers began to look into this case, and they quickly discovered others with the same characteristics. Finally, in 1991 they presented the results of their studies in Washington, at the annual meeting of the North American Society of Pacing and Electrophysiology, which sparked great interest within the scientific community.

Thanks to the collaboration of other specialists, four more affected individuals were soon found, and the number of cases detected worldwide began to increase exponentially. From a starting point of just eight known sufferers, the number of registered cases has increased to over 5,000.

The key is genetics

After presenting the case, multiple blood samples from patients with the syndrome were analysed. The results showed that genetics plays a significant role in the syndrome. We already know that sudden cardiac death is hereditary, and this is a fundamental step in preventing and treating it.

Although over 400 mutations in 18 different genes have already been identified, we now know that around 60% of resuscitated victims of sudden cardiac death with electrocardiograms characteristic of the Brugada syndrome have other family members affected. In other words, over half of patients with a family history of sudden cardiac death have relatives with the same electrocardiogram, or new cases of death in family members who had chosen not to be studied.

Our recommendation: study the entire family

With this important information, the Brugada family recommends that everyone with a family history of sudden cardiac death be examined. If the results show a significant risk, the implantable defibrillator is currently the only option for preventing death in patients who suffer from ventricular fibrillation.