La Brugada syndrome is a rather redeemed disease of discovery and therefore still very little known which, predisposed by genetic factors, exposes the sufferer to sudden heart problems which can cause the death of even young people with a structurally sound heart.
The low number of cases - 5 cases out of 100.000 according to the Istituto Auxologico Del Paeseno - does not help the study of this pathology, however a team of researchers from the Bambino Gesù Pediatric Hospital in the city has recently published an article which, for the first time, specifically delineates the features of the disease on children under 12 years old.
In this article
- Brugada syndrome: what it is
- Symptoms and Diagnosis
- The study of the Bambino Gesù Hospital
Brugada syndrome: what it is
By Brugada Syndrome we mean one hereditary heart disease (a parent has a 50% chance of passing it on to their children) which, despite the apparent absence of structural problems at the heart of the subject, exposes to malignant arrhythmias sudden events that, if not treated immediately, lead to death within a very short time.
Serious cases usually occur in young adults, mostly males, aged between 30 and 40, however children are also not excluded from the statistics.
Why is it so dangerous?
The syndrome - named after the brothers Pedro and Josep Brugada who discovered it in 1992 - develops due to the malfunction of some genes - mainly the SCN5A gene - and affects the ion channels which regulate the exchange of ions of substances that enter and leave the cells of the heart. This leads to sudden imbalances in electrical activity, which can trigger downright dangerous arrhythmias.
Brugada syndrome causes about the 5% of all sudden deaths in adulthood.Read also: Congenital heart disease: in Del Paese they affect one in 100 children
Symptoms and Diagnosis
This pathology is decidedly variable and can alter the clinical picture of a subject even several times during the same day. Paradoxically i symptoms they manifest more easily at rest (at night, during sleep, or after relaxation following physical exertion) and it is by no means excluded that those who suffer from it are completely asymptomatic.
Possible indications of the pathology can be:
- Accelerated heart beat
The syndrome is identifiable through instrumental tests such aselectrocardiogram and stress test, which, however, are often followed by drug tests to ascertain the diagnosis. Being a hereditary disease, if one of the parents suffers from it, it is always good to monitor the situation from childhood.Read also: The 5 rules for heart health: prevention starts as a child
The study of the Bambino Gesù Hospital
To clarify the dynamics concerning younger patients, a research team from the Bambino Gesù Hospital has thought of it, which has published an article in the Heart Rhythm magazine where they specifically describe - for the first time ever - the effects of the syndrome. of Brugada in subjects under the age of 12 years.
The study involved 43 patients (25 females and 18 males), with a median follow-up (i.e. the period after the time of therapy or research) of 4 years and no deceased during that time. The observation allowed to deepen the knowledge of the effects of the syndrome - incidence of malignant arrhythmias, frequency of serious episodes, characteristics of the various forms of pathology - helping researchers to outline accurate guidelines regarding the recognition and treatment of the disease.
"We now know how to manage this syndrome in younger children," said Fabrizio Drago, Coordinator of the Center for Cardiac Canalopathies at the Bambino Gesù Pediatric Hospital. "Our study reveals that it is an electrocardiographic screening is very useful to identify this pathology as early as possible and that children with Brugada syndrome, paying attention to the risk factors for sudden death identified for this specific age, may have a safer future compared to what we have found so far ».
- heart children