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Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations

  • Counseling and Testing (C Reiser and C Walton, Section Editors)
  • Published:
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Abstract

Purpose of Review

The study of the genetic basis of sudden cardiac death has been impacted by advances in sequencing technology, gene variant interpretation, and additional evaluation into the ideal clinical approach to assessing cause of death and the medical and psychological risks of surviving family members. This short review aims to summarize recent publications as well as provide context for future directions for the care of families faced with sudden cardiac death.

Recent Findings

The molecular autopsy is a critical method in determining cause of death, particularly in autopsy-negative sudden cardiac death. Although the cost and availability of exome sequencing have improved in the past few years, its utility in the postmortem evaluation has not significantly improved yield. This is primarily due to the increase in genetic variants detected through this sequencing modality and the difficulty in interpreting these results. Medical examiners are essential in the proper identification and referral of surviving relatives to multidisciplinary clinics that include an expert cardiologist, cardiac genetic counselor, and clinical psychologist that can provide appropriate education, clinical evaluation, and psychological support.

Summary

Future studies need to build on the improvement in variant interpretation and appropriate education and support of medical examiners. This will ensure family members are referred to appropriate providers such that they can receive medical and psychological care that will improve overall health outcomes and reduce the incidence of subsequent sudden cardiac death in the family.

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Authors and Affiliations

  1. Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin School of Medicine and Public Health, 600 Highland Ave MC 3248, Madison, WI, 53792, USA

    Kate M Orland

  2. Clinical Genetics Laboratories, Wisconsin State Laboratory of Hygiene, 465 Henry Mall, Room 417, Madison, WI, 53706, USA

    Kimberly B Anderson

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Orland, K.M., Anderson, K.B. Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations. Curr Genet Med Rep 7, 145–152 (2019). https://doi.org/10.1007/s40142-019-00170-x

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