Genetic testing is helping solve mystery of unexplained death in young people
Researchers are using genetic testing to shed new light on the unexplained deaths of nearly 500 young Australians and New Zealanders.
Their 3-year study shows that the most common causes had been identified as coronary artery disease (24% of cases) and inherited cardiomyopathies (heart muscle abnormalities) (16%). Myocarditis (inflammation of the heart wall) and aortic dissection (a tear in the major blood vessel off the heart) accounted for 7% and 4% of deaths respectively.
However, 40% of cases were initially unexplained at autopsy.
The researchers, led by Sydney University’s Professor Chris Semsarian, analysed blood from many of these cases and screened family members.
They found that one in four unexplained sudden cardiac deaths had a clinically relevant genetic mutation.
Furthermore, the research reveals that the incidence and underlying causes of death varied according to age group.
People in their early 30s had the highest incidence of explained sudden cardiac death while 16-20 year-olds were more likely to die from unexplained sudden cardiac death.
The researchers also found that 72% of deaths involved males and 65% occurred while sleeping or at rest.
They say identifying hidden genetic causes will help surviving relatives and inform prevention and reproductive options.