This is the Final Summary Overview of the findings and methodology of a study with the goal of determining the significance of putative cardiac arrhythmogenic variants identified in the medical examinations of a sample of decedents with sudden unexplained deaths.
Study objectives were to 1) characterize the effect of the genetic variants on cardiac ion channel functions through electro physiological studies and 2) use clinical tools to examine the inheritance of the genetic variants, which are de novo variants present only in the deceased, or pathogenic variants, which co-segregate with the clinical phenotype of biologically related family members. The project anticipated that the study would improve understanding of the underlying causes of sudden deaths and improve the postmortem molecular diagnostic capabilities available to medical examiners. The current report describes the project design and methods, including project subjects and data analysis. In discussing the implications of this study for criminal justice policy and practice in the United States, the report notes that this study has improved understanding of the underlying causes of sudden infant deaths and has developed tools and technologies for improved characterization of many genetic variations, thereby improving medical examiners’ capacity to certify the cause of death in cases with a previously undetermined cause of death. Suggestions for future research in this area are offered. 10 references and 8 annotated listings of scholarly publications from this study