Brugada Syndrome

What is Brugada Syndrome?
Brugada syndrome is a rare inherited cardiovascular disorder characterized by disturbances affecting the electrical system of the heart, specifically disrupting the normal rhythm in the heart's lower chambers. The main symptom is irregular heartbeats and, without treatment, may potentially result in sudden death. More information about Brugada syndrome may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/1030/brugada-syndrome. 

What is the prevalence of Brugada Syndrome?
The prevalence of Brugada syndrome is estimated at 5 in 10,000 people.

How is Brugada Syndrome diagnosed?
The diagnosis of Brugada syndrome is based on a thorough clinical evaluation, a complete medical and family history that may include a family history of sudden cardiac death, and a specialized test known as an electrocardiogram (ECG of EKG) that records electrical activity of the heart and may reveal abnormal electrical patterns. 

Is there any specific gene/pathway in Brugada Syndrome that has been identified?
Sequence analysis of the SCN5A gene is the first step in making a molecular genetic diagnosis because mutations in this gene are the most common cause of Brugada syndrome (approximately 25%). 

How is Brugada Syndrome treated?
No cure for Brugada syndrome exists, so far. Possible treatments may include: observation until symptoms develop, although the first symptom is sometimes sudden cardiac death, or the use of family history or electrophysiologic study to determine who is appropriate for implantable cardioverter defibrillator (ICD) placement. More information on treatment may be found here: https://rarediseases.org/rare-diseases/brugada-syndrome/. 

Are there any clinical trials underway for Brugada Syndrome?
The National Institutes of Health (NIH) has completed 12 clinical trials for Brugada syndrome. Currently, there are 23 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?recrs=&cond=Brugada+Syndrome&term=&cntry=&state=&city=&dist= 

How can RareShare be helpful to Brugada Syndrome patients and families?
The Brugada syndrome Rareshare community has 1 member. There are currently 0 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in Brugada syndrome and provide them continual access to community resources.