Brugada Syndrome: 30 years of progress since its discovery

In 1992, brothers Pedro, Josep and Ramon Brugada described for the first time a clinical entity that had not been previously characterised: an electrocardiographic abnormality associated with sudden cardiac death in people with no apparent structural heart disease. Three decades later, Brugada syndrome has become one of the most studied genetic causes of sudden cardiac death, and its diagnosis is now part of routine cardiology practice.

In this article we review what the syndrome is, how it was discovered, what we have learned during these 30 years, and what perspective we hold from MedicalCSE, where Dr. Josep Brugada serves as Medical Advisor.

What is Brugada syndrome

Brugada syndrome is a genetic cardiac channelopathy: an alteration of the ion channels of the myocardium that can cause severe ventricular arrhythmias and, in some cases, sudden cardiac death. Unlike other heart diseases, patients with Brugada syndrome have no structural cardiac abnormalities — their condition is purely electrical.

It is mostly transmitted by autosomal dominant inheritance, and the most frequently associated mutation is located in the SCN5A gene, which encodes a cardiac sodium channel. However, more than 25 genes have been associated with compatible phenotypes, and the genetics is complex.

It manifests mainly in young or middle-aged men, and arrhythmic events typically occur at rest or during sleep, often at night.

The 1992 discovery

Until 1992, the combination of sudden cardiac arrest in apparently healthy patients with abnormal electrocardiograms had no unified explanation. The Brugada brothers, working between Belgium, Spain and the United States, identified and characterised a common ECG pattern in eight patients who had survived cardiac arrests.

Their work, published in the Journal of the American College of Cardiology in 1992, gave a name to an entity that has since been the subject of hundreds of investigations worldwide and remains the focus of active research.

ECG patterns and diagnosis

The clinical hallmark of Brugada syndrome is the type 1 pattern on the electrocardiogram: a concave elevation of the ST segment of ≥ 2 mm followed by a negative T wave in the right precordial leads (V1 and V2). This pattern may be spontaneous or provoked by pharmacological tests using sodium-channel blocking drugs.

There are also type 2 and type 3 patterns (saddle-back), less specific but which may require additional evaluation. The presence of the spontaneous type 1 pattern is the main diagnostic criterion, especially when associated with clinical symptoms or a family history of sudden death.

Diagnosis, however, is not always straightforward: electrocardiographic patterns can be intermittent, modified by fever, certain medications, or the consumption of alcohol and cocaine. For this reason, careful clinical evaluation and follow-up are essential.

The importance of family screening

Since the syndrome is transmitted in an autosomal dominant manner, first-degree relatives of a diagnosed person have a 50% probability of carrying the same genetic anomaly. Family screening — with 12-lead ECG, careful anamnesis and, if necessary, genetic study — is one of the most effective tools for prevention.

Every new case detected through family screening is an opportunity for primary prevention: identifying people at risk before they have their first clinical event, which is often also their last.

30 years on: what we have learned

Three decades of research have led to a much more refined understanding of the syndrome:

• Risk stratification: today we can better distinguish low-risk asymptomatic patients from those requiring active measures.
• Indications for implantable defibrillator (ICD): international guidelines (ESC, AHA) define more precisely when it is indicated.
• Advanced genetics: the panel of associated genes has expanded, although genotyping is not always diagnostic.
• Paediatric recognition: detection in children has increased, especially in families with a known history.
• Ethnic differences: prevalence is notably higher in Southeast Asian populations.

Today we know that the main challenge is not genetic complexity, but the early identification of at-risk individuals before their first event.

Dr. Josep Brugada, Medical Advisor at MedicalCSE

Dr. Josep Brugada Terradellas, MD, PhD, is an internationally renowned cardiologist and electrophysiologist. Co-discoverer of the syndrome that bears his name, he has been a central figure in the development of arrhythmia cardiology for more than three decades, with a long career at Hospital Clínic Barcelona and numerous scientific publications.

As Medical Advisor at MedicalCSE, he brings his clinical expertise to the development and validation of the ECG-Expert solutions, helping ensure that the technology we design responds to the real needs of cardiology practice.

Looking ahead: digital cardiology and early detection

If there is one clear lesson from 30 years of Brugada syndrome, it is that early detection saves lives. And here, digital technology plays a transformative role.

The ability to perform 12-lead ECGs with portable devices, integrated with mobile apps and supported by artificial intelligence for initial analysis, opens the door to:

• Population screening at scales previously unthinkable (primary care, sports, school medicine)
• Remote evaluation with specialist cardiology over-read
• Diagnostic support for non-cardiology specialists
• Longitudinal documentation easily accessible for follow-up

At MedicalCSE we design ECG-Expert with exactly this type of clinical application in mind: a portable 12-lead electrocardiograph, MDR Class IIa certified, designed to integrate into the workflow of cardiologists, primary care, and sports medicine.

Frequently asked questions

What is the incidence of Brugada syndrome?

It is estimated to affect between 1 and 5 people per 10,000 in the European population, but prevalence is notably higher in countries in Southeast Asia.

Can you have the ECG pattern without symptoms?

Yes. Many carriers have compatible ECG patterns without ever having had symptoms. Risk stratification is one of the most active areas of research.

What is the main treatment?

In high-risk patients, the most effective option remains the implantable cardioverter-defibrillator (ICD). Quinidine and other pharmacological options are used in selected cases.

Is there a relationship with sports?

Brugada syndrome is not per se a contraindication for sports practice, but sport can favour certain situations that increase risk (dehydration, exertion-induced fever). Individual evaluation is essential.

Should family screening be performed?

Yes. ECG and clinical evaluation are recommended for all first-degree relatives of a diagnosed person. Genetic study may be useful in selected cases.

Want to know more about ECG-Expert?

If you are a cardiologist, electrophysiologist, or you represent an institution interested in exploring how portable ECG solutions can integrate into your clinical workflow — including screening and follow-up of pathologies such as Brugada syndrome — you can contact our team through the contact form.

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Article prepared by the MedicalCSE editorial team, with the clinical supervision of Dr. Josep Brugada Terradellas, co-discoverer of Brugada syndrome and Medical Advisor at MedicalCSE.