15 Facts About Brugada syndrome

Brugada syndrome is a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy.

Abnormal heart rhythms seen in Brugada syndrome often occur at rest, following a heavy meal, or even during sleep.

The first mutations described in association with Brugada syndrome were in a gene responsible for a protein or ion channel that controls the flow of sodium ions through the cell membrane of heart muscle cells – the cardiac sodium channel.

Brugada syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the defective gene is needed to produce the syndrome.

The gene in which mutations are most commonly found in Brugada syndrome, known as SCN5A, is responsible for the cardiac sodium channel.

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However, the genetics of Brugada syndrome are complex, and it is likely that the condition results from the interactions of many genes.

Brugada syndrome has been described as overlapping with arrhythmogenic right ventricular cardiomyopathy caused by a mutation in the PKP2 gene, causing a Brugada ECG pattern but structural changes in the heart characteristic of ARVC.

Abnormal heart rhythms seen in those with Brugada syndrome are typically dangerous arrhythmias such as ventricular fibrillation or polymorphic ventricular tachycardia, but those with BrS are more likely to experience rapid heart rates due to less dangerous arrhythmias such as AV nodal re-entrant tachycardia and abnormally slow heart rhythms such as sinus node dysfunction.

Brugada syndrome is diagnosed by identifying characteristic patterns on an electrocardiogram.

Ambulatory ECG monitoring, including implantation of a loop recorder, is sometimes used to assess whether dizziness or faints in a person with Brugada syndrome are due to abnormal heart rhythms or other causes such as vasovagal syncope.

Isoprenaline, a drug that has similarities with adrenaline, can be used in an emergency for people with Brugada syndrome who are having frequent repeated life-threatening arrhythmias, known as an "electrical storm".

Brugada syndrome is more common in people of Asian descent and is the most common cause of sudden death in young males without known underlying cardiac disease in Thailand and Laos.

Brugada syndrome is named after the Spanish cardiologists Josep and Pedro Brugada who described the condition in 1992, although the association between the characteristic ECG pattern and sudden cardiac death had been reported in 1989.

Brugada syndrome was described as a cause for the sudden unexplained cardiac death syndrome seen in Thai men in 1997.

Research into Brugada syndrome is ongoing, identifying new genetic variants, exploring mechanisms of arrhythmias, and searching for better treatments.