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Heart and cardiovascular system

Heart, what is Brugada syndrome?

March 12, 2018

Brugada syndrome is a rare disease that is treated in most cases with the implantation of a defibrillator, a small device to prevent the onset of cardiac arrhythmias. We talk about this topic with Dr. Giulio Stefanini, university researcher in Cardiology at Humanitas University.


The syndrome is named after the Brugada brothers who first described it in 1992. It is a life-threatening syndrome characterized by an alteration of the heart’s electrical system: “Whoever presents it – Dr. Stefanini adds – has an increased risk of ventricular arrhythmia and sudden death by arrhythmia”.


The estimated prevalence of Brugada syndrome in the world is five cases per ten thousand individuals. It is generally diagnosed in adulthood, sometimes during adolescence while in childhood it can explain some cases of cradle death syndrome. The male sex is the most affected, with an incidence between eight and ten times greater than that of the female sex. The deaths are between 30 and 40 years of age. In addition to sex, family history is another unmodifiable risk factor.

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An “electrical” fault

In patients, the heart is subject to ventricular arrhythmia since the structure or function of some ionic channels of the structures present on the surface of the heart cells is altered. This alteration may be due to genetic mutation. In reality there are different genes that, if mutated, can be associated with the syndrome but the most commonly mutated is the gene SCN5A. About three out of ten patients show impairment in this gene.


This gene gives you the information you need to create the channel that carries positively loaded sodium atoms into your heart cells. This channel plays a crucial role in maintaining normal heart rhythm. Genetic mutation therefore alters the structure or functioning of the canal by reducing the influx of sodium atoms and leading to cardiac rhythm alteration.


The intake of narcotic drugs, hypercalcemia or hypopotaxia (respectively the low calcium and potassium content in blood) has also been associated with the pathology and onset of symptoms in individuals with genetic mutation.


The diagnosis

Brugada syndrome tends to be asymptomatic: “Diagnosis is made with an electrocardiogram (ECG) and then confirmation comes in case of molecular alterations. In the light of the indications provided by ECG, it is necessary to exclude other causes that may cause a similar ECG-graphic appearance. This can be detected in simple routine checks and in the case of screening. Individuals familiar with sudden death or patients who have manifested an episode of syncope should undergo an ECG, which can show a suggestive picture of the syndrome”.


Symptoms such as palpitations, irregular heartbeat, fainting and sudden heart failure can sometimes be associated with the syndrome: “These are non-specific symptoms that may also indicate other heart problems and therefore require further investigation. Let’s not forget that a simple examination such as the electrocardiogram can save your life,” concludes the specialist.


The treatment

The treatment depends on the risk of arrhythmia, but in some cases it is solved with the implantation of a defibrillator. This device monitors cardiac rhythm and sends electrical signals when necessary to restore a correct rhythm. In some cases, medication may be used to prevent arrhythmia.

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