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Disease Profile

Brugada syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-5 / 10 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Right bundle branch block, ST segment elevation, and sudden death syndrome; Sudden unexpected nocturnal death syndrome


Congenital and Genetic Diseases; Heart Diseases


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]


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]

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.

Medical Terms Other Names
Learn More:
30%-79% of people have these symptoms
Cardiac arrest
Heart stops beating
Right bundle branch block
ST segment elevation
Fainting spell
5%-29% of people have these symptoms
First degree atrioventricular block
Paroxysmal ventricular tachycardia
Sick sinus syndrome
Supraventricular tachycardia
Ventricular fibrillation
1%-4% of people have these symptoms
Trifascicular block
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
Sudden death


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.


      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

        Learn more

        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.



              1. Brugada syndrome. Genetics Home Reference. March, 2015; https://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; https://www.ncbi.nlm.nih.gov/books/NBK1517/.

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