Post mortem genetic testing finds more causes for young deaths

23rd June 2016

The use of genetic testing in autopsies substantially increases the identification of possible causes of sudden death from heart problems in children and young people, say researchers.

The study, reported in the New England Journal of Medicine, looked at 490 deaths of those aged one to 35 in Australia and New Zealand between 2010 and 2012.  Death was unexplained in four in ten of the cases.

In those that a cause of death had not been identified despite detailed tests, cardiac genes were studied to see if known gene mutations could be found.

A relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained death in which genetic testing was done. During follow-up, inherited heart diseases were identified in 13% of the families in which an unexplained sudden cardiac death occurred.

The European Society of Cardiology has already recommended that detailed genetic testing should be a fundamental component of the post mortem examination.

Researchers also said the incidence of sudden cardiac death was 1.3 cases per 100,000 people aged one to 35.  More than seven in ten involved males.  Those aged 31 to 35 were most at risk.  

The most common explained causes of death were coronary artery disease (24%) and inherited cardiomyopathies (16%). 

The researchers concluded that the addition of genetic testing to autopsies substantially increased the identification of a possible cause of sudden cardiac death among children and young adults.

The study was funded largely by the National Health and Medical Research Council of Australia.

For more details of the study, see here.