Key result
A national programme in the UK has been established to provide systematic post-mortem genetic testing and cardiological screening for families of individuals who suffer sudden unexpected death.
Why the study?
Sudden cardiac death in young people is mostly due to genetic cardiac causes, requiring a structured national pathway for family screening and autopsy genetic testing.
The implementation of a UK national pathway for post-mortem genetic testing and family screening aims to improve genotype-phenotype correlation and prevent future sudden cardiac deaths in affected families.
May facilitate family screening after sudden cardiac death; leaves open prospective outcome data on prevention.
Sudden cardiac death (SCD) in young people is due to genetic cardiac causes in the majority of cases. In UK all cases have an autopsy and results are given to the family. We now have a national pathway with detailed programme to establish that all members of the family are screened by cardiologists in inherited cardiac centres . Also genetic testing of material taken at autopsy will be carried out in all cases which will be a valuable addition to the pathological and clinical findings. All this will aid the family in coming to terms with the tragic death and provide genotype phenotype correlation within the family to prevent future deaths.
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Mary N. Sheppard (2022) conducted a review in Sudden unexpected death (SUD) / Sudden cardiac death (SCD) (n=7,000). National programme for genetic testing and cardiological screening was evaluated. A national programme in the UK has been established to provide systematic post-mortem genetic testing and cardiological screening for families of individuals who suffer sudden unexpected death.
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