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Ten Genes Linked To Sudden Cardiac Death

Finding may lead to safer drugs, help identify those most at risk

March 22, 2009

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You're sitting at your desk and suddenly your heart is beating in overdrive or, worse, lurching along like a car on fumes. It is a shocking, uncomfortable and frightening sensation.

Irregular heart rhythms are a common cause of sudden cardiac death or SCD, a condition that accounts for 450,000 deaths annually in the United States. Scientists are now closer to understanding what causes SCD and who it may strike, according to Gonçalo Abecasis, associate professor of biostatistics at the University of Michigan School of Public Health.

The team identified 10 genes associated with changes in the so-called QT interval duration. The QT interval duration measures the length of time the heart takes to contract. A QT interval that's too long or too short can cause serious problems, including arrhythmias and sudden cardiac death.

The QT interval can be seen on an electrocardiogram monitor; it's a certain portion of the line that waves or spikes up and down when the heart contracts.

The genes are interesting for several other reasons, Abecasis said. Changes in the QT interval are one of the common side effects that lead pharmaceutical companies to cancel new drugs that are under development. This discovery could help identify individuals most at risk of that complication and, eventually, help the industry develop drugs that avoid that complication altogether.

The genes also confirm existing medical theory. A number of the 10 genes help regulate human potassium channels in the heart muscle, reinforcing the idea that the balance of sodium and potassium moving in and out of the heart muscle is important.

"There's a couple where we don't really now what they do, so we're hoping maybe they will give us an interesting lead into other things,” Abecasis said. "Each gene we identified can produce a small alteration in the QT interval," Abecasis said. "Individuals with too many genes predisposing to a long or short QT interval are likely to be most at risk of sudden cardiac death."

The next research phase will follow people over time and see which carriers have SCD or are at most risk, and how the changes in QT interval translate into changes in risk.

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