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The newspaper of The Johns Hopkins University December 12, 2005 | Vol. 35 No. 14
Seeking the Genetic Roots of Sudden Cardiac Death

International effort aims at developing screening test for those at risk

By David March
Johns Hopkins Medicine

Heart specialists at the Johns Hopkins Heart Institute have been awarded more than $1.5 million from the France-based Leducq Foundation Trans-Atlantic Network of Excellence to study the genetic origins of sudden cardiac death. An estimated 1 million Americans or more die each year from sudden heart attacks, a third of them due to disturbingly fast and abnormal heartbeats that wreck the heart's normal electrical rhythms.

The five-year Leducq funding is part of an international effort across four countries — the United States, France, Germany and the Netherlands — to identify genes involved in the process. The Johns Hopkins researchers hope the study will eventually lead to a screening test for those at risk. Fewer than 10 percent survive sudden heart attacks.

"This latest effort combines for the first time international resources that comprise unique collections of DNA and electrocardiographic information on hundreds of patients who experience sudden cardiac death events," said cardiology investigator Peter Spooner, an associate professor at the Johns Hopkins School of Medicine and its Heart Institute, who will serve as a lead investigator. "One of our priorities at Hopkins is to expand existing research on related matters being studied in our Reynolds Cardiovascular Clinical Research Center." Spooner is executive director of Hopkins' Reynolds Center.

Nearly a dozen Johns Hopkins faculty and staff, including cardiologists, geneticists, physiology technicians and research nurses, will be involved in the Leducq initiative, which will also involve research centers in Nashville and Miami.

Research at Hopkins and elsewhere has uncovered substantial evidence that the risk of fatal arrhythmias is linked to mutations in the genes that control the heart's electrical signaling machinery. "These mutations could well serve as markers for heightened risk and buy time for medical and surgical interventions to reduce the risk," Spooner said.

Preventive therapies include implantation of a cardiac defibrillator to reset normal rhythms and drugs that stabilize rhythms.

An understanding of the genetics could also lead to further targets for treatment, said Eduardo Marban, professor and chief of cardiology at the Johns Hopkins School of Medicine and its Heart Institute.

Marban said that even a minor improvement, from 10 percent to 20 percent, in determining who is more at risk of sudden cardiac death could lead to saving more than 100,000 Americans each year. Marban, who also is the Michel Mirowski, M.D., Professor of Medicine at Hopkins and director of its Reynolds Center and Institute of Molecular Cardiobiology, will serve as site co-principal investigator with Spooner. Aravinda Chakravarti, a professor at Hopkins' McKusick-Nathans Institute of Genetic Medicine and an authority on diseases with multiple genetic roots, will serve as collaborating investigator. Study results are not expected until 2010.


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