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Published on: July 19, 2019
[Molecular autopsy: post-mortem genetic testing following sudden cardiac death]
Tina Jenewein1, Britt-Maria Beckmann1, Stefanie Scheiper-Welling1
1Institut für Rechtsmedizin, Zentrum für plötzlichen Herztod und Kardiogenetik, Universitätsklinikum Frankfurt, Kennedyallee 104, 60590, Frankfurt, Deutschland.
Background:
Sudden cardiac death (SCD) is an unexpected natural death with a suspected cardiac cause, accounting for approximately 20% of all cardiovascular deaths in Germany. A significant proportion of SCD in young people (< 50 years) are caused by hereditary arrhythmogenic diseases.
Methods:
The European Society of Cardiology (ESC) guidelines recommend autopsy in all cases of unexpected sudden death, especially in young people, and post-mortem genetic testing (molecular autopsy) if a hereditary heart disease is suspected. Several studies show that molecular autopsy reveals a clinically relevant sequence variant associated with an inherited arrhythmogenic disease in about 20% of cases. Clinical cardiological and genetic testing of biologically related relatives of the deceased can reduce the risk of further deaths within affected families.
Results And Conclusion:
Based on molecular autopsy and clinical and genetic examination of relatives, therapeutic and preventive measures can be taken within families affected by SCD. This requires a structured approach to an SCD case by various medical disciplines within a financial and legal framework that has yet to be established in the German healthcare system.
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