Long QT syndrome is a malfunction of the heart’s electrical system that can cause cardiac arrest during periods of high stress or physical activity. Sudden cardiac death is often the outcome – even in young people. The normal incidence of Long QT syndrome is one in 3,000 to one in 5,000 people. However, earlier work by Dr. David Fedida, Associate Head of the Dept. of Anesthesiology, Pharmacology, and Therapeutics at the University of British Columbia, and other researchers identified a new genetic mutation among members of a First Nations community in northern British Columbia that pushed the incidence of Long QT Syndrome much, much higher – one in every 250 people.This project, funded by the Heart and Stroke Foundation, brings together basic science research with clinical work and population health in an effort to uncover the biological mechanisms that connect this genetic change to heart failure. As a result, community members will have better access to information about their personal heart health and what they need to maintain it. “This is the first description of this kind of problem in a First Nations population. The genetic defect is quite common, and these studies will be the first to gain a rational understanding for the cause of the heart seizures,” says Dr. Fedida. He adds that it will also be the first to extensively screen the affected individuals in the community to get an idea of the full scope of the problem. He says the community will benefit by receiving better education about the chances of sudden cardiac arrests affecting them and their families. “The ultimate goal is to discover new ways [mechanisms and chemicals] to intervene and hopefully prevent the sudden heart stoppages from occurring. A fuller understanding of the type and amount of genetic variation in the small proteins that regulate the electrical activity in the heart will eventually help us intervene to correct some of the underlying defects that lead to the problems in the first place. It has the potential to radically change the health outlook for this community.”
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Posted: Sept. 8, 2009
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