Brugada syndrome

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Disease 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.[1469] Symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death.[1469] 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.[15414][15415] 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.[15414][15415][15416] The genetic form of Brugada syndrome typically is inherited in an autosomal dominant manner.[1469][15414] An acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium.[1469] In some cases, the cause of Brugada syndrome is unknown.[1469] Treatment may include use of an implantable cardioverter defibrillator (ICD).[15414]


Synonyms

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

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National Organization for Rare Disorders