National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Brugada syndrome


Other Names:
Right bundle branch block, ST segment elevation, and sudden death syndrome; Sudden unexpected nocturnal death syndrome
Categories:
Brugada syndrome is a heart condition that causes a disruption of the normal rhythm in the heart's lower chambers (ventricular arrhythmia). Signs and symptoms usually develop in adulthood but the diagnosis may be made at any age.[1] Symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death.[1] The underlying genetic cause of inherited forms of Brugada syndrome is not known in most cases, but in up to 20-30% of people with Brugada syndrome, it is caused by a mutation in the SCN5A gene.[2][3] A number of other genes have been reported to be associated with Brugada syndrome in the literature, but the role they play in causing Brugada syndrome remains to be clearly defined.[2][3][4] The genetic form of Brugada syndrome typically is inherited in an autosomal dominant manner.[1][2] An acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium.[1] In some cases, the cause of Brugada syndrome is unknown.[1] Treatment may include use of an implantable cardioverter defibrillator (ICD).[2]
Last updated: 9/23/2019
While symptoms of Brugada syndrome usually develop in adulthood, they can develop at any age. Symptoms associated with irregular heartbeat (arrhythmia) can cause fainting, seizures, difficulty breathing, or sudden death. These symptoms and complications usually occur during rest or sleep.[1] Sudden cardiac arrest may be the initial symptom of Brugada syndrome in as many as one-third of affected people.[5] The risk of cardiac arrest is much lower in people with no symptoms. After diagnosis, specific tests may provide an estimate of the risk of ventricular arrhythmias and sudden cardiac death in each person.[5]
Last updated: 3/16/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Cardiac arrest
Heart stops beating
0001695
Right bundle branch block 0011712
ST segment elevation 0012251
Syncope
Fainting spell
0001279
5%-29% of people have these symptoms
First degree atrioventricular block 0011705
Paroxysmal ventricular tachycardia 0004751
Sick sinus syndrome 0011704
Supraventricular tachycardia 0004755
Ventricular fibrillation 0001663
1%-4% of people have these symptoms
Trifascicular block 0011715
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Sudden death 0001699
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Last updated: 7/1/2020
The genetic form of Brugada syndrome (not the acquired form) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms. Almost all people with Brugada syndrome have a parent with the condition. In about 1% of cases, an affected person has a new mutation in the responsible gene and has no family history of the condition. Each child of an affected person has a 50% chance to inherit the mutated gene.[6]

Unsymptomatic parents of an affected person should be evaluated with electrocardiography, and any family history of sudden death should be discussed. If genetic testing reveals a mutation in the affected person, genetic testing of the parents is recommended. A family history may appear to be negative due to reduced penetrance, death of a parent before symptoms start, or late onset of symptoms in an affected parent.[6]
Last updated: 3/16/2016

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
The long-term outlook (prognosis) for people with Brugada syndrome varies because the condition is very unpredictable. The condition manifests primarily during adulthood, and causes a high risk of ventricular arrhythmias and sudden death. The average age of sudden death is approximately 40 years.[1][6] Affected people with a history of sudden cardiac arrest and/or fainting have an increased risk for subsequent episodes compared to people with no symptoms.[5]
Last updated: 3/16/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Disorders that could present the typical Brugada ECG pattern include acute pericarditis, Duchenne muscular dystrophy, arrhythmogenic right ventricular cardiomyopathy (see these terms), left ventricular hypertrophy, early repolarization, acute myocardial ischemia or infarction, pulmonary embolism, Prinzmetal angina, dissecting aortic aneurysm, thiamin deficiency, hyperkalemia, hypercalcemia and hypothermia.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Brugada syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Brugada syndrome.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Brugada syndrome. Click on the link to view a sample search on this topic.

Videos/Presentations

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I am going into my senior year and we just figured out I have Brugada syndrome because we did testing. We just figured out that my dad had it, so I had to be tested. I play football and basketball. Do you think it would be fine for me to play these sports for my senior year? See answer

  • My 32 year old son was just diagnosed with Brugada syndrome. The cardiologist who implanted his ICD will do genetic testing I think. Is it possible to determine from my son's test whether there is a paternal or maternal link? Or does each of the parents need to be tested? My father died in his forties from cardiac arrest and his youngest sister died at age 22 from cardiac arrest. See answer

  • What is the prognosis for individuals diagnosed with Brugada syndrome? See answer


  1. Brugada syndrome. Genetics Home Reference. March, 2015; http://ghr.nlm.nih.gov/condition=brugadasyndrome.
  2. Giuseppe C, Egle C, Antonio C, Giampiero M, Domenico O, Antonino M, Brugada P. Update on Brugada Syndrome 2019. Current Problems in Cardiology. August 23, 2019; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/31522883.
  3. Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R. Present Status of Brugada Syndrome: JACC State-of-the-Art Review. J Am Coll Cardiol. August 28, 2018; 72(9):1046-1059. https://www.ncbi.nlm.nih.gov/pubmed/30139433.
  4. Hosseini SM, Kim R, Udupa S. Reappraisal of Reported Genes for Sudden Arrhythmic Death. Circulation. September 18, 2018; 138(12):1195-1205. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147087/.
  5. John V Wylie and Ann C Garlitski. Brugada syndrome. UpToDate. Waltham, MA: UpToDate; February, 2016;
  6. Ramon Brugada, Oscar Campuzano, Pedro Brugada, Josep Brugada, and Kui Hong. Brugada Syndrome. GeneReviews. April 10, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1517/.