Marfan syndrome presenting as aortic rupture in a young athlete: sudden unexpected death?

A 20-year-old man had a spontaneous rupture of the ascending aorta while exercising. The diagnosis of Marfan syndrome, established by the gross and microscopic autopsy findings, was further supported by review of the autopsy report of the father, who had died at age 26 of a nearly identical aortic rupture. To avoid occurrences such as the above, the responsibility of the forensic pathologist should extend beyond the autopsy to appropriate counseling of families in instances where medically treatable hereditary conditions may be present in the survivors.