Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations
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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.
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.
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.
KeywordsSudden cardiac death Postmortem genetic testing Variant interpretation Molecular autopsy Multidisciplinary care Genetic counseling
Compliance with Ethical Standards
Conflict of Interest
Kate Orland reports personal fees as a consultant for My Gene Counsel. Kimberly Anderson declares no potential conflicts of interest.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
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