Brugada syndrome in children under 12: the study, published in Hearth Rhythm, allows a more accurate assessment of the risks associated with the heart disease and the effectiveness of prevention measures

Brugada syndrome is a hereditary heart disease with a risk of sudden death in the absence of structural defects of the heart

Adverse events mainly affect young adults between the ages of 30 and 40, but children are not excluded if certain risk factors are present.

The rather recent nature of the discovery and the scarcity of accurate case histories cause understandable alarm in the families of children and young people with a suspected illness.

This can lead to an unjustified increase in the number of examinations aimed at diagnosis and risk stratification, and even to the adoption of inadequate therapeutic tools.

A study by Bambino Gesù published in the journal Heart Rhythm, one of the most authoritative in the field of arrhythmology, describes specifically and for the first time the effects of Brugada syndrome in subjects under 12 years of age.

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BRUGADA SYNDROME, A FLAW IN THE HEART’S ELECTRICAL SYSTEM

It was the brothers Pedro and Josep Brugada who, in 1992, identified a genetic disorder (BrS) involving the electrical system of the heart with a prevalence of 1/2000 to 1/5000 individuals.

It affects structures on the surface of heart cells – the ion channels – through which ions (sodium, potassium, magnesium and calcium) leave and enter the cell.

The malfunctioning of these structures creates imbalances in electrical activity that increase the risk of potentially fatal arrhythmias.

The disease occurs mainly in young adults, as testosterone appears to potentiate it.

Diagnosis is based on electrocardiogram (ECG) positivity of specific cardiac features, a typical pattern that can be fixed, intermittent or triggered by medication or a fever above 38°.

A peculiar genetic mutation is identified in only 40 % of cases, because to date only a few genes have been identified as responsible for the syndrome.

The gene most commonly involved is SCN5A, which codes for the protein that makes up the sodium ion channel.

THE RISK OF SUDDEN DEATH CAUSED BY BRUGADA SYNDROME

Brugada syndrome is responsible for about 5% of all sudden deaths in adults (over 18 years) and occurs during sleep or rest.

Patients with previous cardiac arrest, a family history of sudden death, previous experience of syncopal episodes (brief loss of consciousness causing the subject to fall if standing upright) and evidence of malignant arrhythmias are identified as patients at high risk of sudden cardiac death, including children.

Very few scientific papers in the literature report data on paediatric patients affected by this syndrome and relate to populations between 0 and 19 years of age.

The wide age range involving infants, prepubertal and pubertal patients does not allow us to understand exactly how Brugada syndrome is expressed in children who are in the 0-12 years range.

Extrapolating, with a certain margin of imprecision, the data from these publications, we can today speak of an incidence of sudden death in the paediatric population affected by Brugada syndrome equal to 4% in children under 12 years of age and 10% in those under 19 years of age.

BRUGADA SYNDROME GUIDELINES AND THE BABY JESUS STUDY

With the aim of obtaining more reliable data, the group of Dr. Fabrizio Drago, head of the Heart Disease Research Unit within the Multifactorial Diseases Research Area of the Bambino Gesù Children’s Hospital, first promoted the drafting of the first Guidelines on the correct behaviour to adopt with children under 12 years of age affected by Brugada Syndrome (published in the journal Minerva Pediatrica in 2019).

He then carried out an observational study on a group of patients at the Bambino Gesù who presented the syndrome in this age range.

The aim of the study, with Dr Daniela Righi as first author, was to identify the characteristics, time-dependent outcomes and risk factors associated with arrhythmic and cardiovascular events.

Forty-three patients (25 females and 18 males) selected on the basis of electrocardiographic screening or referral from other centres were involved in the study.

Of these, 13 had a spontaneous ECG pattern and 30 induced (in 24 cases by fever). A mutation in the SCN5A gene was present in 14 patients.

The median follow-up was 4 years.

THE RESULTS OF THE RESEARCH

The good, indeed excellent, news is that no patient died during the 4-year follow-up period.

The data show that the incidence of malignant arrhythmias, and therefore the risk of sudden death, was significantly higher in patients with previous syncope or with a mutation in the SCN5A gene and in high-risk patients who tested positive for electrophysiological study of the heart.

Another important finding of the study is that spontaneous Brugada type 1 ECG pattern does not appear to be associated with a higher incidence of malignant and non-malignant arrhythmias or episodes of syncope than drug- or fever-induced arrhythmias.

This contradicts some previous studies that included patients of wide age range in childhood and stated the opposite.

Moreover, in the sample of patients under 12 years of age, a higher frequency of malignant arrhythmic events was noted in females, in contrast to the postpubertal age, which is characterised by increased testosterone production in males.

CLINICAL PERSPECTIVES

At present, 3 of the 43 patients in the study have an implantable defibrillator which can interrupt the onset of ventricular fibrillation and the consequent cardiac arrest; 7 are monitored by telemedicine with ECG recorders implanted subcutaneously in the thoracic area above the heart, while one has had a pace-maker implanted.

All the others had no specific intervention and continue to be monitored in the outpatient clinic on a quarterly or half-yearly basis.

“We now know how to manage this syndrome in younger children,” says Drago, who is head of Cardiology and Arrhythmology at S. Paolo, Palidoro and Santa Marinella and Coordinator of the Cardiac Channelopathy Centre at the Bambino Gesù Children’s Hospital.

“Our study reveals that electrocardiographic screening is very useful to identify this pathology as early as possible and that children with Brugada syndrome, by paying attention to the risk factors for sudden death identified for this specific age, can have a safer future than we have found so far”.

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Source:

Bambino Gesù