What is Brugada syndrome and how is it treated? | IDOVEN

The recent appearance of Brugada Syndrome in the media has shocked a large part of the population, but what exactly is it?

Fortunately, this potentially lethal disease, which is genetically transmitted from parent to child, is rare and can be identified through an electrocardiogram. can be identified through an electrocardiogram.

This disease was first discovered in 1989 by the Spanish cardiologists and brothers Pere and Josep Brugada, through the detection of an electrocardiographic abnormality in survivors of cardiac arrest. It was not until 1992 that SB was scientifically recognised, with the publication of the first study bearing his name in the Journal of American College of Cardiology (JACC).in which it was defined as a new clinical-electrocardiographic syndrome causing sudden death due to sudden cardiac arrest. ventricular fibrillation.

Brugada syndrome is classified as a channelopathy, i.e. a disease caused by alterations in the ion channels (proteins that control the passage of electricity), the consequence of which is a predisposition to arrhythmias.

For the normal functioning of the heart, cardiac cells need to have an adequate and orderly flow of elements in and out of the heart, including sodium, potassium and calcium. In this disease, there is an alteration in the way these substances enter and leave the heart cells. 

Because of this, the heart beats at very high frequencies and in a disorganised manner. This can be perceived as palpitations and/or tachycardia. In addition, these beats are inefficient in sending blood to other organs, which is especially relevant when it is the brain that suffers from this deficiency, as it stops working properlyand symptoms such as dizziness, syncope (loss of consciousness) or even cardiorespiratory arrest appear.

Diagnosis of the disease The diagnosis is based on the electrocardiogram, in which characteristic alterations appear.. It is also important to know if there have been episodes of syncope or if there has been a case of sudden death in a family member.

Channelopathies are pure electrical diseases and characteristically are not associated with any underlying structural heart disease.

In some cases where the electrocardiogram is inconclusive, special tests involving the injection of certain drugs may be performed to help confirm or rule out the diagnosis.

Genetic tests can also be performed to identify the genetic alteration and confirm the disease. These tests are positive in about one third of patients with the disease. If the causal gene is detected, family members can be genetically tested to see if they are carriers of the disease.

There is currently no curative treatment. Management is based on identifying patients at increased risk of sudden death who may benefit from an ICD (implantable cardioverter defibrillator) to prevent arrhythmias associated with the disease.

Most people who suffer from it don't know it, which is why we recommend keeping an eye on your heart even if you don't have symptoms. IDOVENwe recommend keeping an eye on your heart even if you have no symptoms. Cardiac prevention is the key to treating these pathologies in time.