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Masonic research scientists discover new genetic links to sudden cardiac death

UTICA, N.Y. - Cardiac Research Institute scientists at the Masonic Medical Research Laboratory (MMRL) discovered 23 gene mutations that are associated with Brugada and Early Repolarization syndromes.

This discovery was possible through a collaborative effort with investigators around the world. These new findings will help us better identify individuals and family members who may have a predisposition for Brugada syndrome and who are at risk for sudden cardiac death.

The Brugada syndrome is an inherited cardiac arrhythmia syndrome that generally afflicts individuals as they reach their 30’s and 40’s. Some are individuals who have not been sick a day in their lives until one day, they experience a cardiac arrest in their sleep, often without warning. This syndrome has confounded doctors for decades and has left many families devastated.

The Early Repolarization Syndrome, like the Brugada syndrome, targets mid-age males, although both syndromes can strike at any age, including young infants. MMRL scientists were the first to point out that an early repolarization pattern on the ECG could be associated with lethal arrhythmias.

Both syndromes fall under the umbrella of J wave syndromes, a term coined by MMRL investigators. The study titled “Mutations in the cardiac L-Type calcium channel associated with inherited J-wave syndromes and sudden cardiac death” appeared in Heart Rhythm, a journal of the Heart Rhythm Society.

The authors of the study include MMRL investigators Elena Burashnikov, Ryan Pfeiffer, Hector Barajas-Martinez Ph.D., Dan Hu Ph.D., Mayurika Desai and Charles Antzelevitch Ph.D. As a result of this study, the investigators conclude that tests for these gene mutations may be a valuable diagnostic tool to help identify individuals at risk for the Brugada syndrome.

The Cardiac Research Institute at the MMRL is one of the top genetic screening centers in the world dedicated to helping families afflicted with sudden death syndromes.

The Cardiac Research Institute at the MMRL is a leading center internationally for study of lethal cardiac arrhythmias. Their scientists have developed experimental models of life-threatening cardiac arrhythmias that have aided in the development of new therapeutic modalities to combat sudden death in infants afflicted with congenital syndromes such as Long QT, Short QT and Brugada syndromes.

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