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Genetic link uncovered in cardiac deaths in young people

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Genetic link uncovered in sudden cardiac deaths in young people

Research into sudden cardiac death has found that 27 percent of unexplained deaths in young people resulted from a previously undiagnosed genetic mutation.

These significant findings have opened the way for preventative treatment for surviving family members who may have the same genetic condition.

Led by New Zealand Paediatric Cardiologist Dr Jon Skinner, the international research was funded by Cure Kids and the National Health Medical Research Council (Australia) in collaboration with Australian researchers.

The study collected data on all sudden cardiac deaths in 1-35 year olds in Australia and New Zealand from 2010 to 2012.

While 60 percent of these deaths were explained, 198 of the 490 deaths had no known cause after a detailed autopsy.

“We found that in some young people who died suddenly the autopsy found no cause of death – and yet through genetic testing we were able to make a diagnosis of a familial condition,” said Dr Skinner.

As a direct result of the research findings, Dr Skinner is advocating for genetic testing to be compulsory in sudden cardiac death investigations.

“The addition of genetic testing to the conventional autopsy investigation substantively increases the likelihood of finding a possible cause of sudden cardiac death among young people.

“The fact of the matter is that there are people out there who don’t know they are at risk.”

The tragedy of sudden, unexpected deaths of loved ones can be amplified by not knowing the cause of death, and whether family members might also be at risk due to an underlying genetic condition.

Of the 145 sudden deaths that were unexplained (40 percent of the total), genetic testing of their DNA was possible in 113. This testing was completed with next of kin permission and ongoing support to attempt to provide closure in the form of medical answers.

Results were startling, with more than one quarter of cases (31) having a clinically relevant cardiac gene identified.

Once a gene is found, thorough testing can be carried out on other family members at risk of dying suddenly and unexpectedly. This has fundamental implications for the treatment of at risk individuals.

According to Dr Skinner, “sudden death can be prevented. Depending on the diagnosis, medications such as beta blockers can be very effective. In more severe situations, keyhole surgical procedures or implantable defibrillators can make a marked difference to medical outcomes”.

The study also revealed that most cases of sudden cardiac death occur while people are sleeping or at rest, challenging the widely held view that most sudden deaths in young people occur during exercise.

The findings of the study build on a decade long programme of research and world leading clinical service development undertaken by the Cardiac Inherited Disease Group across New Zealand.

Cure Kids has provided more than NZ$1 million of funding to support work aimed at protecting the lives of young New Zealanders.


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