Sudden cardiac death (SCD) is a tragic and devastating complication of a number of cardiovascular diseases. The death is most often unexpected and has major implications for the surviving family and the community. Whereas SCD in older populations is most frequently due to underlying coronary artery disease and heart failure, in individuals aged less than 35 years, the causes of SCD span a number of diverse diseases often with an underlying genetic cause, such as the inherited cardiomyopathies and primary arrhythmogenic diseases. In up to 30% of young SCD cases, no cause of death is identified at post-mortem, so-called sudden unexplained death (SUD). 1
The ANZSCD Study was established as a 3-year (2010-2012), prospective, NHMRC-funded, study of SCD in those aged 1-35 years across Australia and New Zealand. All states and territories were included, and data obtained from three main sources, i.e., forensic centres, Births, Deaths and Marriages, and the National Coronial Information System (NCIS). All data were reviewed by an adult cardiologist, a paediatric cardiologist, and a forensic pathologist, and cause of death determined in all cases. In those where no cause was identified, these cases were classified as SUD.
The data are currently being collected and analysed. Two sub-studies are also in progress. First, comprehensive cardiac genetic testing (60-100 genes) is being performed on blood samples collected at post-mortem (‘molecular autopsy’) 2 in all SUD cases in an attempt to identify an underlying cause. Second, in a small cohort of NSW-based SCD cases, a study comparing the traditional pathologist post-mortem with whole-body MRI post-mortem scanning has been undertaken. Progress on all these studies will be presented.
A significant proportion of causes of SCD in the young will have a genetic basis. Understanding the causes of SCD in the young has major implications in terms of diagnosis in at-risk family members, and in developing new treatment and prevention strategies. A multidisciplinary model of care to manage families in which a young SCD has occurred is essential, 3 with the ultimate translational goal to prevent SCD amongst the young in our communities.
Pathology, 2014;46(Suppl 1)S21. IF: 2.657