Editor's Choice Main Category: Cardiovascular / Cardiology Also Included In: Heart Disease Article Date: 06 Oct 2012 - 0:00 PDT

Current ratings for: New Faulty Gene Explains Sudden Cardiac Death

Frequently over the last years, healthy young people have experienced sudden cardiac death, and many doctors are confused as to why the heart abruptly stopped beating.

Researchers from Denmark have found a gene mutation that can cause serious heart disease or sudden cardiac death in both adults and children.

Professor Anders Borglum and his team, whose study was published in The American Journal of Human Genetics, believe their new discovery could explain some extremely publicized cases of young athletes suddenly dropping dead during sporting events.

The causes of these deaths are normally put down to "unknown heart disease". These cases cannot directly be attributed to this new disease gene just yet, but the possibility is not unimaginable.

This particular study was the result of years of detective work. A family in Sweden was suffering from heart issues, with two healthy boys ages 13 and 15 both experiencing sudden cardiac death during sporting events. Doctors were certain that the heart problems had to be hereditary. However, the family did not have the genetic mutation that was known to cause cardiac conditions. The Swedish doctors decided to collaborate with Danish researchers to solve this puzzle.

Associate Professor Mette Nyegaard, of Aarhus University's Department of Human Genetics, who was involved in the project said:

The mutation was located in the calmodulin, a gene which acts as rules for the body's production of a critical protein. Scientists have previously been aware of certain genes which can cause sudden cardiac death, but calmodulin was never one of them until now.

The researchers are currently studying the prevalence of the newly discovered gene mutation. They examine blood samples of large groups of patients with heart problems from unknown causes.

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New Faulty Gene Explains Sudden Cardiac Death

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