Sydney scientists have teamed up with US researchers to create the test they are hailing as a world first.
Scientists at the Victor Chang Cardiac Research Institute have co-developed a world-first individualised risk prediction tool for people suffering from a type of heart arrhythmia that can cause sudden cardiac arrest.
And they say this is the first time a gene mutation-specific test has been applied to predict the severity of heart disease.
The research was undertaken with colleagues at the Vanderbilt University Medical Centre in Tennessee, and could also benefit patients suffering from other heart arrhythmias and neurological conditions, they said.
Lead author Professor Jamie Vandenberg, deputy director of the Victor Chang Cardiac Research Institute, said the findings, published in the journal 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,” he said.
“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.
“This will provide patients and their families with answers and better enable clinicians to tailor treatment appropriately.”
Long QT Syndrome is a heart rhythm disorder that can cause sudden cardiac death and generally affects people who are otherwise fit and healthy. An estimated one in 2000 Australians has the condition.
The researchers investigated 533 genetic variants or mutations associated with long QT syndrome from 1458 patients. They discovered which genetic mutations were the most dangerous by comparing these findings against traditional testing methods and using patient records.
Co-author and a senior staff scientist at the institute, Dr Chai-Ann Ng, said the results were variable according to the exact gene mutation.
“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,” he said.
“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.”