Monday, July 4

Brugada syndrome: who can suffer from this type of sudden death?


Almost three decades ago -in November 1992- doctors and brothers Pedro and Josep Brugada published a study in the ‘Journal of the American College of Cardiology’. The work talks about eight patients who presented a peculiarity in their electrocardiogramssomething that the specialists took as a “curiosity”.

The doctors did not imagine at that time that they were discovering a disease that would bear his name: Brugada syndrome. It is a heart rhythm disorder that generally has a genetic origin and can cause syncope and even sudden death.

It is a rare disease: the percentage of the population it affects is small. But it is essential to detect it in time, to take the appropriate measures of prevention and treatment.

In 2015, in fact, a study determined that 179 people from the same family in Gran Canaria had the genetic mutation that determines Brugada syndrome. The investigation into that family had begun more than fifteen years earlier, due to the sudden death of several young people and apparently healthy.

All those people had a common ancestor: a man established in the town of Tunte at the end of the 18th century. The authors of the work -Josep Brugada and Fernando Wangüemert- verified that 36 members of the family, from different generations, had died due to the genetic mutation.

But all of those deaths occurred before 2007, when a protocol to treat the disease was designed. Since then, there were no new deaths in that family because of this.

In recent times, some news has talked about Brugada syndrome because some famous people revealed that they suffer from it: José María Almoguera, son of the television director Carmen Borrego, 32 years old, and the doctor and model Carla Barber, of 31.

How to detect it?

Brugada syndrome is included within the so-called cardiac channelopathies. These are “genetic abnormalities in proteins of cardiac cells that control the electrical activity of the heart”, as defined by the prestigious ‘Merck Manual of Diagnosis and Therapy‘.

Such abnormalities can cause heart rhythm disturbances, that is, arrhythmias. However, arrhythmias may not cause any harm. But they can also lead to other problems, such as those already mentioned: syncope and sudden death.

Brugada syndrome often does not cause any symptoms. Indeed, many people, despite having the genetic alteration, do not develop the disease. But in other cases there are problems. Y These problems give signs. A Article of the Mayo Clinic, in the United States, lists the following:

  • dizziness
  • Fainting.
  • Wheezing and difficulty breathingEspecially at night.
  • Palpitations, heart beating too fast, irregular or chaotic.
  • seizures

Of course, before the appearance of such symptoms it is essential to go to the doctor in search of its origin. Especially if the person has suffered a syncopeif you have a family history of sudden death in young people or, of course, if there were other cases of Brugada syndrome in your family.

The diagnosis of the disease is based on the electrocardiogram. The Spanish Heart Foundation (FEC) explains that, in many cases, this organ presents a “normal structure” (has a normal shape and functions normally almost always), which does not seem to correspond to any congenital disease.

However, in the electrocardiogram some “characteristic alterations” appear through which it is possible to identify or at least suspect the presence of the syndrome. An echocardiogram or electrocardiogram under pharmacological test (the patient is injected with certain medications before its completion) allow confirming or ruling out the diagnosis.

Treatment of Brugada syndrome

In the thirty years that have passed since the identification of what would later be called Brugada syndrome, medicine has numerous discoveries and advances in the treatment of the disease. For now, anyway, there is no cure.

The type of treatment depends on whether it is a patient low or high risk. In general, those who have not had any symptoms of the disease are considered low risk. For these people, from the Mayo Clinic they point out that there is no specific treatment, although there is some important care:

  • Act against the fever as soon as possible. In people with Brugada syndrome, fever is a trigger for abnormal heartbeats. Therefore, it is essential that, at the first sign of fever, the patient takes medication to eliminate or at least reduce it.
  • Avoid medications that can cause heart rhythm disturbances, among which are certain antidepressants and drugs related precisely to the heart. Also the consumption of drugs or excess alcohol increase the risks.
  • Do not practice highly competitive sportssince they can lead the heart to demands that are risky.

For patients who have had symptoms—particularly those with a personal history of ventricular arrhythmias, fainting spells, or serious heart rhythm problems, and those who have survived syncope or sudden cardiac arrest—treatment does involve some one-off measures .

Defibrillators and other measures for high-risk cases

The FEC details that, in these cases, the implantation of a implantable cardioverter defibrillator (DAI). It is a device that is installed in the body and, through electrodes, detects arrhythmias and applies enough energy for the heart to resume its normal rhythm.

In certain cases (“if there are numerous ventricular arrhythmias”, the FEC specifies) two other measures can be considered, in addition to the ICD. On the one hand, the drug use such as quinidine, which help prevent the heart rhythm from becoming dangerous.

On the other, the so-called epicardial ablation, which involves the installation of a long, flexible tube –a catheter– through a blood vessel and to the heart. This catheter delivers energy that scars or destroys the tissue responsible for the abnormal heart rhythm.

The ECP clarifies that both medication and epicardial ablation are defibrillator accessoriesbut that at the moment there is no “solid data” that would allow recommending some of these techniques as substitutes for the defibrillator in high-risk patients.

All these measures have saved lives, as has been pointed out in the case of the family from Gran Canaria. But these discoveries have also had incidence beyond cardiologyas noted in a interview specialist Pedro Brugada, one of the discoverers of the syndrome.

The doctor refers to the work Medicine and that of sports have had to review their protocols due to the risks involved in people with this disease carrying out certain tasks. Gynecologists and anesthesiologists have also had to incorporate knowledge about the caring for pregnant women and their children.

Even the accident experts – Brugada stressed – they must have included the syndrome among the possible causes for a person who drives a vehicle to lose consciousness: if they did not know they had the disease, their responsibilities in the face of the consequences of that fact are different.

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