Unraveling the Mystery of Sudden Cardiac Death With Genetic Testing

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Sudden cardiac death is the biggest cause of cardiac death in the United States. While some people may have symptoms leading up to cardiac arrest, like a racing heart or dizziness, many have no symptoms at all. Now, scientists want to know how a person’s genetic makeup could provide an early warning for people at high risk.

When someone goes into sudden cardiac arrest, time becomes the enemy.

“Usually, it's variable probably on the order of minutes, is all somebody has really to start getting CPR before the brain and other vital organs start to die, and it's an irreversible process then,” Aloke Finn, MD, an interventional cardiologist at the University of Maryland School of Medicine, told Ivanhoe.

And in almost half of all cardiac deaths, experts find no sign of heart disease. Now, Dr. Finn and his colleagues say they’ve pinpointed the cause for some unexplained deaths. Dr. Finn and his team performed genetic tests on 400 deceased patients, mostly in their forties, who died unexpectedly.

“What we can do is we can extract DNA from the organs of those people, and we can sequence that DNA for certain cardiac genes. We found about 20% percent of the people dying of so-called unexplained, sudden cardiac death carried pathologic, or pathologic mutations in certain cardiac genes, which suggest they had underlying undetected, cardiac disorder,” Dr. Finn shared.

Dr. Finn says the findings may open the door to important questions about the potential to save lives with genetic screening, especially for patients with a family history of sudden cardiac death.

Right now, there are no clear guidelines on screening and treating patients with the genetic mutations that might make them vulnerable to sudden cardiac death. Dr. Finn says more research is needed to address the health needs of these patients.

Contributors to this news report include: Cyndy McGrath, Producer; Kirk Manson, Videographer; Roque Correa, Editor.

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