recently discovered - cornell university

•!Recently discovered

–!First case in 1989

–!Officially recognized in

1992 by Brugada brothers

•!Genetic disorder

•!Causes arrhythmia through

ventricular fibrillation

•!Around 60% of sufferers have family history of Brugada syndrome

•!Autosomal dominant

•!Predominance in males

•!Several mutations affecting gene SCN5A which codes for cardiac sodium channels

•!Polymorphic ventricular tachycardia-ventricular fibrillation

•!Syncopal attacks (fainting)

•!Cardiac arrest or sudden death

•!Genetic defect in a cardiac sodium channel

•!Results in altered channel function where there is a temperature dependent loss of sodium current

•!Creates a variety of refractory period lengths which can cause arrhythmias

•!Anti-arrhythmic drugs do not protect against sudden death

•!Only current treatment is an implantable cardioverter-defibrillator which recognizes and treats

ventricular arrhythmias

•!Also known as ‘Sudden Unexpected Death Syndrome’ (SUDS)

•!Most common form of natural death for young people in Thailand

•!Known as ‘Lai Tai’ in Thai, ‘Bangungut’ in Tagalog, ‘Pokkuri’ in

Japanese

•! It is 8-10 times more prevalent in men

•! Dizon, Jose M. Brugada Syndrome. eMedicine. Feb 4, 2009.

http://emedicine.medscape.com/article/163751-overview

•! The Brugada Syndrome. www.brugada.org. Mar 2, 2009.

•! Brugada P, Brugada J (November 1992). "Right bundle branch block,

persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report". J. Am.

Coll. Cardiol. 20 (6): 1391–6