A study carried out by researchers at the Gemelli University Hospital (Fondazione Policlinico Universitario A. Gemelli IRCCS) in Rome led to an important discovery. Heart arrhythmias in 75% of Brugada syndrome cases were caused by an abnormal state of inflammation in the heart muscle. This discovery aids the diagnosis of high-risk patients.
A syndrome with fatal consequences
Brugada syndrome is a rare, inherited cardiovascular disorder. The syndrome affects approximately 5 in10,000 people and is more common in men than in women. Brugada syndrome is one of the main causes of sudden infant death syndrome, but usually manifests in adulthood. This syndrome can cause fatal heart arrhythmias that can lead to sudden death. Even though these extreme cases are less prevalent than before, cardiologists still face the challenge of identifying which asymptomatic patients with Brugada type 1 ECG are “high-risk” and should receive an implantable cardioverter-defibrillator. This new discovery has radically changed views about the disease, which has always been considered a disturbance affecting the electrical system of the heart, but not pertaining to alterations in cardiac structure or the cardiac muscle. The recent study demonstrated that the majority of Brugada syndrome patients present important alterations in the cardiac muscle that cause fatal arrhythmias. Furthermore, this study puts a whole new perspective on Brugada syndrome, demonstrating that the disease in not only caused by alterations in DNA, but also by a state of inflammation in the cardiac muscle.
Future applications of this important discovery
The study, published in the Journal of the American College of Cardiology, was coordinated by Professor Antonio Oliva from the Catholic University of the Sacred Heart- Institute of Public Health- Section of Legal Medicine, Gemelli University Hospital. The study finally shed some light on the biological mechanisms that determine the risk of fatal arrhythmias in patients with Brugada syndrome. During the study, researchers performed ECGs to diagnose Brugada Syndrome on patients, highlighting all areas showing functional cardiac abnormalities. Samples of cardiac muscle were then taken from the same patients and analyzed under a microscope. Interestingly, 75% of the samples taken revealed that the muscle was affected by an inflammatory condition and that the greater the state of inflammation, the more extensive were the functional cardiac abnormalities. According to Prof. Oliva, this discovery makes it possible to predict which patients with Brugada syndrome are at a higher risk for heart arrhythmias and sudden cardiac death, especially in young patients who seem perfectly healthy. The study will also probably lead to new therapeutic solutions. In the United States, the effectiveness of anti-inflammatory therapies that use cortisone in addition to traditional therapies to eliminate serious forms of arrhythmias have already been tested in patients with Brugada syndrome.
This discovery is another important element to add to the many innovative therapies that have been developed as a result of advancements made in medical scientific research.
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