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Genetic defects hold clues to risk for sudden cardiac death
Date:5/10/2011

Sudden cardiac death is always a shocking, tragic event, especially when it occurs at a young age. But, for the first time, scientists are unraveling how genetic defects can help predict the risk of dying suddenly in individuals with one of the leading causes of this unfortunate phenomenon.

This knowledge could guide treatment and potentially lessen the occurrence of sudden cardiac death in patients with Long QT syndrome, a rare, inherited heart rhythm disorder. It could also provide insight into the assessment and treatment of the millions of people who experience cardiac arrhythmias irregular heart rhythms that cause the heart to beat too fast or too slow and can lead to sudden death if not corrected.

The new study, published recently in the journal Science Translational Medicine, shows that the function of specific genetic mutations namely, the defects these mutations cause are strong predictors of risk of sudden death and other cardiac events in patients with Long QT.

The finding is especially relevant for individuals who have the condition but don't have particularly pronounced clinical risk factors, such as a very prolonged QT interval the time it takes for the heart's electrical system to recharge after each heartbeat and get ready for the next (hence, the name "Long QT" syndrome). When the QT interval is prolonged, the heart is more susceptible to arrhythmias.

These tricky, in-between patients, who make up about 70 percent of the Long QT syndrome population, often fall into a treatment gray area. In the future, lead study author Coeli Lopes, Ph.D., hopes that physicians may be able to use mutation-specific information to better identify high-risk individuals in this group who should be followed more carefully and treated more aggressively.

"To our knowledge, this is the first time anyone's linked the activity of specific mutations to actual risk in patients," said Lopes, assistant professor at
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Contact: Emily Boynton
emily_boynton@urmc.rochester.edu
585-273-1757
University of Rochester Medical Center
Source:Eurekalert

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