Brugada syndrome is a rare heart disease, a syndrome that can also prove fatal and that is characterized by an alteration of the electrical system of the heart. Its name comes from the Brugada brothers who first described it in 1992.
As Professor Giulio Stefanini, a specialist in clinical and interventional cardiology at Humanitas, explains: “Patients with Brugada syndrome present an increased risk of ventricular arrhythmia and sudden death by arrhythmia”. In most cases, therefore, it is necessary to implant a small defibrillator in order to prevent the onset of cardiac arrhythmias.
It is estimated that there are five cases in the world for every ten thousand individuals. Brugada syndrome is generally asymptomatic and it is diagnosed mainly in adulthood. It affects men in particular and family history is also a risk factor.
Causes of Brugada syndrome
The heart is subject to ventricular arrhythmia in the presence of a structural or functional alteration of certain ion channels, structures present on the surface of the heart cells. This alteration can be traced back to a genetic mutation. Although the genes involved may be different, the most commonly mutated (in about 3 out of 10 patients) is the SCN5A gene.
This gene provides the information needed to create the channel that carries positively charged sodium atoms into the heart cells. It is a fundamental channel in maintaining a normal heart rhythm and if it is altered in structure or function by genetic mutation, there is a reduction in the influx of sodium atoms with consequent alteration of the heart rhythm.
Drug use, hypercalcemia or hypokalemia have also been associated with the syndrome and onset of symptoms in patients with a genetic mutation.
How is the diagnosis made?
“The diagnosis is made with an electrocardiogram (ECG) and confirmation is given in the presence of molecular alterations. In the light of the indications given by the electrocardiogram, other causes that may lead to a similar electrocardiographic appearance should be excluded; this can be detected in simple routine checks and in the case of screening. Subjects who have a family history with sudden death or patients who have experienced an episode of syncope should undergo an ECG, which may result in the suggestive picture of the syndrome,” says Prof. Stefanini.
Although the syndrome is mostly asymptomatic, sometimes there may be symptoms such as palpitations, irregular heartbeat, and fainting as well as sudden cardiac arrest: “These are non-specific symptoms that can also signal other heart problems and that still require further study. Let’s not forget that a simple examination like an electrocardiogram can save your life,” the specialist points out.
How do you intervene?
Treatment depends on the risk of arrhythmia and in most cases involves the implantation of a defibrillator. This small device monitors the heart rhythm and sends out electric shocks when necessary to restore the correct rhythm.
In some cases, medication may be indicated to prevent arrhythmia.