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Background <p>Sudden cardiac death (SCD) is an unexpected natural death with a&#xa0;suspected cardiac cause, accounting for approximately 20% of all cardiovascular deaths in Germany. A&#xa0;significant proportion of SCD in young people (&lt; 50&#xa0;years) are caused by hereditary arrhythmogenic diseases.</p> Methods <p>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&#xa0;hereditary heart disease is suspected. Several studies show that molecular autopsy reveals a&#xa0;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.</p> Results and conclusion <p>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&#xa0;structured approach to an SCD case by various medical disciplines within a&#xa0;financial and legal framework that has yet to be established in the German healthcare system.</p>

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Molekulare Autopsie – postmortale genetische Diagnostik nach einem plötzlichen Herztod

  • 期刊论文

  • 发表日期：

    2025年7月11日

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  • Tina Jenewein,
  • Britt-Maria Beckmann,
  • Stefanie Scheiper-Welling,
  • Silke Kauferstein

摘要

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.