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Diseases

Genetic and Rare Diseases Information Center (GARD)

Brugada syndrome


Other Names for this Disease
  • Right bundle branch block, ST segment elevation, and sudden death syndrome
  • Sudden unexpected nocturnal death syndrome
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Overview

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][2] Symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death.[1] Brugada syndrome may be caused by a mutation in any of at least 16 genes (most commonly the SCN5A gene) and 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: 3/16/2016

References

  1. Brugada syndrome. Genetics Home Reference. March, 2015; http://ghr.nlm.nih.gov/condition=brugadasyndrome.
  2. 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/.
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Basic Information

In Depth Information

  • 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

Other Names for this Disease
  • Right bundle branch block, ST segment elevation, and sudden death syndrome
  • Sudden unexpected nocturnal death syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.