Molecular Autopsy Study

This study seeks to incorporate genetic testing into the postmortem examination of cases of
sudden unexplained death, initially in San Diego County with plans to expand nationally and
internationally as funding allows. Genetic testing of the index subjects and their parents
(or other biological family members if parents are not available) will be assessed for
potential heritable causes of sudden death. By combining the wide catchment base of the San
Diego Medical Examiner's Office, sequencing expertise of SD-based collaborators, computing
power of the San Diego Supercomputer Center and in-house and external genomic analytics, the
Scripps Translational Science Institute aims to provide a more complete characterization and
understanding of the genetic causes of sudden death. Ultimately, findings from this study
will be utilized to identify previously unrecognized mechanism of sudden death allowing for
the development of preventative screening programs and potentially life-saving interventions.

Inclusion Criteria:

- Index case age between birth - 45 years

- Clinical presentation of sudden / unexplained death (believed to be cardiac in nature
OR secondary to a massive unprovoked pulmonary embolism with no prior diagnosis of
prothrombotic disease)

Exclusion Criteria:

- Premature death secondary to murder, suicide or external causal event

- Premature death thought secondary to known chronic comorbid medical condition

- Premature death thought secondary to end-organ failure (kidney, liver, lung) other
than heart

- Previously diagnosed with hypertrophic cardiomyopathy (HCM)

- Prior myocardial infarction (regardless of stenting or bypass)

- Prior cerebrovascular accident (stroke or TIA)

- History of open heart surgery (for any reason)

- History of severe, untreated hypertensive heart disease

- History of illicit drug use

- History of heavy alcohol abuse

- History of severe pulmonary disease

- History of morbid obesity