This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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. Symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death. 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. 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. The genetic form of Brugada syndrome typically is inherited in an autosomal dominant manner. An acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium. In some cases, the cause of Brugada syndrome is unknown. Treatment may include use of an implantable cardioverter defibrillator (ICD).
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