Tool to predict risk of sudden cardiac arrest

A new gene mutation-specific test will help predict the severity of heart arrhythmia that could cause sudden cardiac arrest.

Scientists at the Victor Chang Cardiac Research Institute made the discovery in conjunction with colleagues at the Vanderbilt University Medical Centre.

Lead author Professor Jamie Vandenberg, Deputy Director of the Victor Chang Cardiac Research Institute, said the findings published in Circulation would enable patients with one of the most common inherited heart diseases — Long QT syndrome — to discover how severe their condition was.

“Genetic testing for inherited heart diseases has been transformative, but there have been limitations in what it can tell you. It might reveal you have the disease, but there has been no way of using this genetic information to determine how high your risk is for suffering a sudden cardiac arrest,” Vandenberg said.

“This will provide patients and their families with answers and better enable clinicians to tailor treatment appropriately.”

Long QT Syndrome affects people who are otherwise fit and healthy. Around one in 2000 Australians will have this condition. The researchers investigated 533 genetic variants or mutations associated with Long QT syndrome from 1458 patients. The mutations affect the function of ion channel gene variants.

They analysed every mutation and its function using a high-speed electrical test, a high-throughput automated patch clamp assay. They revealed which genetic mutations were the most dangerous by comparing these findings against traditional testing methods and using patient records.

The researchers discovered that some genetic mutations reduced the function of the ion channel by up to 90%, resulting in a 13.3-fold greater risk of major cardiac events (arrhythmia, sudden death). A 75% reduction in function was associated with an 8.6-fold greater risk of major cardiac events.

Fellow author Dr Chai-Ann Ng of the Victor Chang Cardiac Research Institute said, “We have shown that not every diagnosis of Long QT is equal, and the risk of having a sudden cardiac arrest can vary dramatically depending on the exact genetic mutation.

“Our findings will make a huge difference in how these high-risk patients are cared for in the future. We are also actively working on adapting this test to patients affected by other heart arrhythmias and neurological conditions.”

Image credit: iStock.com/Alena Butusava