Sudden cardiac death discovery

The sudden death of a young person is a tragic event that leaves families facing profound grief and uncertainty as they seek answers in a difficult new reality.

Understanding the cause of the loss is vital for many, yet families dealing with Sudden Cardiac Death (SCD) often find themselves without answers. 

SCD is the unexpected passing of a healthy individual due to an abnormal heart rhythm. In Australia, over 25,000 people experience out-of-hospital cardiac arrest each year, with two to three young Australians under 35 dying weekly.  

With a determination to provide families with the answers they so desperately needed, Associate Professor Richard Bagnall set about a study to investigate whether genetic testing as part of the autopsy process would reveal the underlying cause.

“In 40% of cases, standard autopsies just weren’t providing any clues as to why the young person may have died. This is devastating to families, but not only that, not knowing whether the cause was hereditary left siblings in the dark and potentially at risk themselves,” says Richard.

A breakthrough for families

Together, Richard and his team prospectively collected clinical, demographic, and autopsy information on all cases of sudden cardiac death among children and young adults 1 to 35 years of age in Australia and New Zealand from 2010 through 2012.

“A clinically relevant cardiac gene variant was identified in 27% of unexplained SCD in which genetic testing was performed. We were then able to confirm a clinical diagnosis of an inherited cardiovascular disease in 13% of the families,” recalls Richard.

Not only did these results provide closure for families but also opened up avenues for testing at-risk relatives, enabling early intervention and the prevention of additional deaths within the family. 

The addition of genetic testing to autopsy investigation represented a paradigm shift in how unexplained sudden deaths are investigated and incorporating genetic testing now provides crucial information to guide both clinical and family interventions. 

In 2022, Associate Professor Bagnall’s groundbreaking work went on to support the making of genetic assessments for heart disease available on Medicare.

His work in validating the efficacy of genetic testing in diagnosing cardiomyopathy in children and predicting heart failure is transforming the landscape of cardiac care, resulting in timely diagnoses, informing prognoses, and identifying at-risk family members. This testing has and will continue to save countless lives.

It’s work that has elevated the dialogue around genetic testing within the realm of heart diseases which is vital when it comes to influencing policies, such as the recent introduction of Medicare rebates for genetic assessments related to cardiac arrhythmias and cardiomyopathies.