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Thanks to a study conducted at the IREMS University Hospital in Rome A. Gemelli, it was discovered that in 75% of casesBrugada syndromeA rare disease which affects the heart, at the base of the cardiac arrhythmias typical of pathology, there is a & # 39;anomaly cardiac muscle itself and an abnormal inflammatory state. 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 the teacher Antonio Oliva, of the Public Health Institute of the Catholic University, UOC Medicina Legale, A. Gemelli University Policlinico Foundation, IRCCS.
The study was funded by a grant from the Telethon Foundation awarded to the Maurizio Pieroni of the cardiovascular and neurological department of San Donato Hospital of Arezzo and Professor Oliva in collaboration with Ramon Brugada from the University of Girona in Spain, who discovered the syndrome.
"With this study – explains Professor Oliva – he highlighted the biological mechanisms that determine the risk of fatal arrhythmia in patients with Brugada syndrome".
Disease
Brugada syndrome is a rare genetic pathology of the heart, with autosomal dominant inheritance, linked to a dysfunction of the SCN5A gene, located on chromosome 3, which regulates the functioning of ion channels that are proteins with a "gate" function . 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, while in childhood, it can explain some cases of death syndrome by birthplace. 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.
"With this work, we have also shown that significant alterations of the heart muscle are present in the majority of patients at the base of electrical alterations and fatal arrhythmias.", Explains Professor Antonio Oliva.
The study was based on the sampling of heart muscle samples and electrical mapping of the heart of patients previously undergoing electrocardiographic diagnostic examination for Brugada syndrome, highlighting areas with abnormalities in the front of the patient. electric operation. Genetic screening of patients was then performed.
In particular, 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 more present, the more abnormal areas of the heart being extended.
This study sheds new light on how to understand which patients are at risk for fatal arrhythmia. The propensity to have severe arrhythmias could increase with the extension of the abnormal area and in the presence of inflammation of the heart muscle, thus laying the foundation for a new way to define the arrhythmic risk of these patients.
"This discovery, in addition to important prognostic meanings, will probably have important therapeutic repercussions."- concludes Professor Oliva."In the United States, the efficacy of anti-inflammatory treatment with cortisone in addition to conventional treatments has already been tested for the eradication of serious arrhythmias in patients with the syndrome".
"Brugada syndrome – comments professor Filippo Crea, Director of the Department of Cardiovascular and Thoracic Sciences of the Polyclinic of A. Gemelli University IRCCS – Catholic University – it is characterized by an alteration of the electrocardiogram that draws the patient's attention to the cardiologist. Until now, a genetic disorder has been considered that causes functional impairment of heart cells and increases the risk of sudden death. This study puts Brugada syndrome in a totally new light, demonstrating that not only genetic alterations but also inflammation of the heart can cause Brugada syndrome. This opens new avenues for the identification of patients with Brugada syndrome at high risk of sudden death requiring defibrillator implantation.".
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