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Updated 8:45 AM March 24, 2009
 

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Ten genes identified in connection with sudden cardiac death

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

Irregular heart rhythms like this 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, says Gonçalo Abecasis, associate professor of biostatistics at the School of Public Health (SPH).

Abecasis co-led an international study aiming to identify genetic defects associated with sudden cardiac death, with Aravinda Chakravarti of Johns Hopkins and Arne Pfeufer of the Institute for Human Genetics in Germany. Serena Sanna, formerly at SPH and now a researcher at the National Research Center in Cagliari, Italy, was joint first author.

The team identified 10 genes associated with changes in what's called the 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 says. Changes in the QT interval are one of the common side effects that lead pharmaceutical companies to cancel new drugs that are under development, Abecasis says. 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," Abecasis says. "There's a couple where we don't really know what they do, so we're hoping maybe they will give us an interesting lead into other things.

"Each gene we identified can produce a small alteration in the QT interval. 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, Abecasis says.

Scientists studied DNA and electrocardiograms for 15,000 people, and contrasted their findings with those of a parallel study of similar size led by Chris Newton Cheh of the Broad Institute.

The paper, "Common variants at ten loci modulate the QT interval duration in the QTSCD Study" appears in the March 22 issue of Nature Genetics.

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