Gene biomarker may predict sudden heart death

A blood biomarker test presented at the ESC Congress 2012 could pick out those people who could be saved by an implantable cardioverter defibrillator (ICD), an implanted device that shocks the heart back into rhythm. Sudden cardiac death is shocking, whether it happens to someone with known or suspected heart failure, or someone young and otherwise fit.

Heart failure affects around 5 million people in the U.S., and is single most common cause of admission to hospitals there. Abnormal heart rhythms can lead to sudden death in people with severe heart failure, but can be tracked and corrected with an ICD. According to Samuel Dudley of the University of Illinois at Chicago and university spinoff ROS Technologies: "The problem is that more than half of the patients who get them don't need them, and nearly half of the patients who would benefit don't get one."

Dudley presented data on a blood test, called PulsePredic, which has potential to pick out those patients who might benefit from an ICD within a year. The test, which looks for increases in expression levels of the variant of the SCN5A gene by looking at the mRNA (the genetic blueprint for a protein), would be the first of its kind.

The researchers looked for the mRNA in heart muscle and white blood cells in 135 patients with heart failure and 45 people with healthy hearts. They found that those people at risk of sudden death had higher levels of the variants, suggesting that the test could have an application in these patients. The next step is to look at the potential test in larger groups.

While the obvious use for the test would be in patients with known heart failure, it may also have potential in screening young athletes to prevent sudden death related to arrhythmia.

- read the press release
- see the presentation slides (PDF)

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