In my country, there have been many cases of people dying suddenly as they were sleeping. It is locally called "bangungot" which is something like a mix of a night terror and sleep paralysis leading to death.
The thing about this occurrence is that the people who experience it usually have a healthy heart. So how are these people having sudden attacks causing death?
Over 30 years ago, Pedro Brugada had started investigating what they termed "cardiac dysrhythmia" which would later be named "Brugada syndrome". He looked into a 3-year-old boy, Lech, whose father Andrea Wockeczek brought to Brugada because he was experiencing the same symptoms that his 2-year-old sister had died from.
Brugada’s first impression was that Lech was perfectly healthy.His heartbeat sounded normal, too, but when Brugada examined his EKG, he saw a pattern that he had never seen before, highly unusual, shaped almost like a shark’s fin.
Over the next few years, Brugada searched for this electrical pattern in other victims of cardiac arrest. Then the EKGs of two patients, a man from the Netherlands and a man from Belgium who had both collapsed, came to his attention.
He collected a few more of these unusual EKGs and, with his brother, Josep, published his results in the Journal of the American College of Cardiology. They said it “might constitute a distinct clinical and electrocardiographic syndrome.”
It turns out that it had something to do with genetics:
A few years later, scientists discovered that patients with the disease carry a mutation in a gene (called SCN5A) that controls the flow of sodium into heart cells, thus electrically activating them.
Now, there are more mysterious diseases out there that would take more time, effort, and money to study and find treatment. Even Brugada syndrome does not have a specific "cure". The best solution is an implanted defibrillator. But this may get us one step closer.
(Image credit: Kinga Cichewicz/Unsplash)