[Molecular autopsy: post-mortem genetic testing following sudden cardiac death].

Abstract

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.