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† B. A Genetic Mutation Found to Cause Trouble for Some Congenital Heart Disease Patients

Narrator: This is Science Today. Each year, thousands of children undergo corrective surgery for congenital heart malformations, such as holes in the heart, to improve the immediate function of the heart. But Dr. Kenneth Chien of the University of California, San Diego School of Medicine, has discovered thereís an underlying, genetic mutation that continues to degrade the heart and in some cases, leads to sudden death later in life.

Chien: This gene plays an important role in the earliest stages of heart formation, but what we were able to uncover is a role for this gene in the later stages of heart formation during the formation of the electrical wiring of the heart of the conduction system in the pacemaking cells. So while in this case, the defect would be invisible to the naked eye, at a molecular level itís a severe defect.

Narrator: Chien says this is a recent discovery because the genetic tools and markers for identifying these specialized, cardiac pacemaker-like cells have only recently been developed.

Chien: So this actually represents, I think, one of the frontier areas in cardiac arrhythmias now.

Narrator: For Science Today, Iím Larissa Branin.