NORD gratefully acknowledges Joseph Kim, NORD Editorial Intern from the University of Notre Dame, and Ramon Brugada, MD, PhD, Girona Institute of Biomedical Research IDIBGI and School of Medicine, University of Girona, Girona, Spain, for assistance in the preparation of this report.
Brugada syndrome is a rare inherited cardiovascular disorder characterized by disturbances affecting the electrical system of the heart. The main symptom is irregular heartbeats and, without treatment, may potentially result in sudden death. Recent reports suggest that Brugada syndrome could be responsible up to 20% of sudden death in patients with structurally normal hearts. The clinical phenotype manifests in adulthood, and it is more frequent in males. Frequently, sudden death can be the first manifestation of the disease. Brugada syndrome is a genetic disease and follows autosomal dominant inheritance. Currently, the prevalence of Brugada syndrome is estimated at 5 in 10,000 people.
The normal heart has four chambers. The two upper chambers are known as the atria and the two lower chambers are known as the ventricles. Electrical impulses cause the heart to beat. In individuals with Brugada syndrome, the electrical impulses between the ventricles become uncoordinated (ventricular fibrillation) resulting in decreased blood flow. Decreased blood flow to the brain and heart may result in fainting or sudden death.
Brugada syndrome is named by the Spanish cardiologists Pedro Brugada and Josep Brugada who reported it as a distinct clinical syndrome in 1992. The genetic basis of Brugada syndrome was established by Ramon Brugada in 1998.
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