Disease Directory Brugada Syndrome
Cardiovascular

Brugada Syndrome

Also known as: Right bundle branch block with ST elevation, Brugada pattern, SCN5A mutation

Prevalence

1 per 2,000; higher in Southeast Asian men

Onset

Typically identified in adulthood; mean age of sudden death around 40

Type

Autosomal dominant

Gene

SCN5A

About Brugada Syndrome

Brugada Syndrome is an inherited arrhythmia syndrome caused most frequently by loss-of-function mutations in SCN5A, encoding the cardiac sodium channel Nav1.5, leading to a characteristic coved-type ST-segment elevation in the right precordial leads and a predisposition to ventricular fibrillation and sudden cardiac death, predominantly during rest or sleep. The syndrome is markedly more prevalent in males and in individuals of Southeast Asian ancestry, and fever is a well-recognised precipitant of arrhythmic events. Diagnosis requires the presence of a Type 1 Brugada ECG pattern either spontaneously or unmasked by sodium channel blockers.

Common Clinical Features

Type 1 coved ST-segment elevation in V1-V2 on ECG Ventricular fibrillation or polymorphic ventricular tachycardia Syncope, often nocturnal or at rest Sudden cardiac arrest as first presentation in some patients Fever-induced arrhythmia or unmasking of Brugada pattern Supraventricular arrhythmias (atrial fibrillation) Asymptomatic pattern detected incidentally on ECG Nocturnal agonal respiration (in family members witnessing events)

Clinical Trial Eligibility Tips

What to know before applying to Brugada Syndrome trials.

A documented spontaneous or drug-induced Type 1 Brugada ECG pattern is the primary diagnostic criterion required for most trial enrolment; procainamide or ajmaline challenge records may be needed.

Family history of sudden unexplained death and personal history of syncope or resuscitated cardiac arrest are important eligibility covariates; compile a detailed family pedigree.

ICD implantation history and prior ablation procedures should be disclosed; some trials studying catheter ablation strategies may specifically recruit patients with symptomatic recurrences.

Patient Resources

Patient Organization

Sudden Arrhythmia Death Syndromes Foundation

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Natural History Registry

SADS Foundation Patient Registry

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Orphanet

European reference resource for rare diseases (ORPHA:130)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Brugada Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Brugada Syndrome. Updated daily.

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