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Genetic and Rare Diseases Information Center (GARD)

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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 condition that causes a disruption of the heart's normal rhythm (arrhythmia). Signs and symptoms usually develop in adulthood and include ventricular arrhythmia that can cause fainting, seizures, difficulty breathing, or sudden death. These complications often occur when an affected person is resting or asleep.[1] Brugada syndrome is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes (most commonly the SCN5A gene). In many cases, the genetic cause is not identified.[2] There have also been reports of acquired Brugada syndrome which have been associated with adverse reactions to certain drugs or other substances.[1] Treatment may include use of an implantable cardioverter defibrillator (ICD) in people with a history of fainting or heart attack.[2]
Last updated: 4/23/2014

References

  1. Brugada syndrome. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition=brugadasyndrome. Accessed 5/26/2011.
  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/. Accessed 4/23/2014.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.

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