In New York City, statutes require that all sudden deaths of persons in apparent good health be reported to the Office of Chief Medical Examiner (OCME). This study retrospectively reviewed all cases handled by the OCME between December 1, 2000, and September 30, 2003, that were determined to be caused primarily by PE. Of 15,280 persons autopsied during the study period, 124 deaths were primarily caused by PE. Of these, 34 selected blood samples (27 percent) were analyzed for 3 heterozygous and homozygous mutations. One or more mutations were detected in 12 of these cases. One case involved mutations in factor V Leiden (FVL); three cases involved prothrombin G20210A (PT); and nine cases involved methylenetetrahydofolate reductase (MTHFR). Currently, the extent to which forensic pathologists miss important molecular diagnoses is largely unknown. The cases described in this study emphasize the need for postmortem testing in at least selected cases of PE. Pathologists' discussions with immediate family members of the decedent should be in general terms regarding survivors' potential risk, which should include a strong recommendation that they discuss the results of the autopsy with their primary physician. 3 tables and 56 references