Skip to main content
SpringerLink
Log in

The role of the molecular autopsy in sudden cardiac death in young individuals

  • Clinical Outlook
  • Published:

From Nature Reviews Cardiology

View current issue Sign up to alerts

A molecular autopsy is undertaken in cases of sudden cardiac death with no definitive cause found after conventional autopsy, with the aim of identifying a pathological genetic variant that could account for the death. Greater awareness of malignant arrhythmias in the absence of structural changes in inherited cardiomyopathies has increased the applicability of molecular autopsies, and resulted in improved care of families but new challenges for clinicians.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1: Pathways for the investigation of SCD in young individuals and care of surviving relatives.

References

  1. Bagnall, R. D. et al. A prospective study of sudden cardiac death among children and young adults. N. Engl. J. Med. 374, 2441–2452 (2016).

    Article  PubMed  Google Scholar 

  2. Ackerman, M. J., Tester, D. J. & Driscoll, D. J. Molecular autopsy of sudden unexplained death in the young. Am. J. Forensic Med. Pathol. 22, 105–111 (2001).

    Article  CAS  PubMed  Google Scholar 

  3. Stiles, M. K. et al. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm 18, e1–e50 (2021).

    Article  PubMed  Google Scholar 

  4. Lahrouchi, N. et al. Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome. J. Am. Coll. Cardiol. 69, 2134–2145 (2017).

    Article  PubMed  PubMed Central  Google Scholar 

  5. Guo, L. et al. Genetic variants associated with unexplained sudden cardiac death in adult white and African American individuals. JAMA Cardiol. 6, 1013–1022 (2021).

    Article  PubMed  Google Scholar 

  6. Webster, G. et al. Genomic autopsy of sudden deaths in young individuals. JAMA Cardiol. 6, 1247–1256 (2021).

    Article  PubMed  Google Scholar 

  7. Isbister, J. C. et al. Concealed cardiomyopathy in autopsy-inconclusive cases of sudden cardiac death and implications for families. J. Am. Coll. Cardiol. 80, 2057–2068 (2022).

    Article  PubMed  Google Scholar 

  8. Neves, R. et al. Exome sequencing highlights a potential role for concealed cardiomyopathies in youthful sudden cardiac death. Circ. Genom. Precis. Med. 15, e003497 (2022).

    Article  CAS  PubMed  Google Scholar 

  9. Wilde, A. A. M. et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace 24, 1307–1367 (2022).

    Article  PubMed  PubMed Central  Google Scholar 

  10. Zeppenfeld, K. et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur. Heart J. 43, 3997–4126 (2022).

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

C.S. is the recipient of a National Health and Medical Research Council Investigator Grant (no. 2016822) and a New South Wales Health Cardiovascular Disease Clinician Scientist Grant.

Author information

Authors and Affiliations

  1. Faculty of Medicine and Heath, The University of Sydney, Sydney, New South Wales, Australia

    Julia C. Isbister & Christopher Semsarian

  2. Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia

    Julia C. Isbister & Christopher Semsarian

  3. Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia

    Christopher Semsarian

Authors
  1. Julia C. Isbister
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christopher Semsarian
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Christopher Semsarian.

Ethics declarations

Competing interests

The authors declare no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Isbister, J.C., Semsarian, C. The role of the molecular autopsy in sudden cardiac death in young individuals. Nat Rev Cardiol 21, 215–216 (2024). https://doi.org/10.1038/s41569-024-00989-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41569-024-00989-0

  • Springer Nature Limited

Search

Navigation