"Brugada syndrome", the revolutionary discovery of the disease that could have killed Davide Astori – Hi



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Among the causes that could have caused the death of Davide Astori, the flag of Cagliari, the national team and Fiorentina died suddenly in March, there was also talk of Brugada syndrome, a rare disease that affects the heart and could base many deaths for no apparent reason.

And today, thanks to a study conducted by the Rome Gemelli Hospital Foundation, it has been discovered that in 75% of cases of Brugada syndrome, there is an abnormality of the heart muscle and a condition abnormal inflammatory.

The discovery will predict which patients with the syndrome are at risk for arrhythmia and sudden cardiac death, particularly in younger subjects otherwise considered to be in perfect health.

The research was published in the world's largest cardiology journal, "Journal of the American College of Cardiology," and coordinated by Professor Antonio Oliva.

"With this study – explains Professor Oliva – we have highlighted the biological mechanisms that determine the risk of fatal arrhythmia in patients with Brugada syndrome."

Disease – Brugada syndrome is a rare, inherently autosomal dominant genetic disorder related to gene dysfunction, SCN5A, located on chromosome 3, which regulates the functioning of ion channels, which are proteins with a function of "" ports "located on the surface of the cell, through which the ions (sodium, potbadium, magnesium and calcium) come out and enter the cell.

The estimated prevalence of Brugada syndrome in the world is five cases per ten thousand individuals. It is usually diagnosed in adulthood, sometimes in adolescence, and can explain, in childhood, some cases of death syndrome by cradle.

Between the two bades, the man is the most affected, with an incidence of eight to ten times higher than that of the female bad. Deaths occur between 30 and 40 years of age. In addition to bad, familiarity is also a non-modifiable risk factor. Of all subjects with Brugada syndrome, fortunately only the minority suffers from fatal arrhythmia.

The big challenge for cardiologists is to identify, among asymptomatic subjects with a diagnostic electrocardiogram, those who are at greatest risk of serious arrhythmia and who must therefore be protected with the implantation of a defibrillator.

Since the first descriptions in the early 90s, Brugada syndrome has been considered a disorder exclusively of the electrical system of the heart, in the apparent absence of alterations of the heart and heart muscle, but it has been demonstrated with this work that important alterations of the cardiac muscles are present in the majority of the patients and are at the base of the electrical alterations and the fatal arrhythmias.

RESEARCH – The study was based on the sampling of heart muscle samples and electrical mapping of the heart of patients previously subjected to an electrocardiographic diagnostic examination of Brugada syndrome, highlighting areas with abnormalities on the beginning of the electrical operation. Genetic screening of patients was then performed.

Microscopic examination of the biological samples taken showed that in more than 75% of cases there was inflammation of the heart muscle and that this inflammation was all the more present as the abnormal heart areas were extended.

The study thus sheds new light on how to understand which patients are at risk for fatal arrhythmias and, in addition to important prognostic meanings, will likely have important therapeutic implications.

NEW HOPES – "The Brugada syndrome – said Professor Filippo Crea, director of the department of cardiovascular and thoracic sciences of the Polyclinic Gemelli – has been considered until now as a genetic disease that causes functional impairment of the cells of the heart, It increases the risk of sudden death, but a new study puts the disease in a totally new light, demonstrating that not only genetic damage, but also inflammation of the heart can be the cause. "

(Unioneonline / V.L.)

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