A Connective Tissue Defect

In January l986, volleyball champion Flo Hyman left the court during game in Japan, collapsed, and very suddenly died. Her aorta, the largest blood vessel of the body, which leads out of the heart, had burst. Death was instant. Hyman had Marfan syndrome, and inherited condition that also caused the characteristics that led her to excel in her sport--her great height and long fingers.

In Marfan syndrome, an abnormal form of a connective tissue protein called fibrillin weakens the aorta wall. After Flo died, her siblings were examined, and her brother Michael was found to have a weakened aorta. By surgically repairing his aorta and placing him on drugs to control his blood pressure and heart rate, physicians enabled him to avoid the sudden death that claimed his famous sister. Testing for the causative gene can alert physicians to affected individuals even before the dangerous swelling in the aorta begins.

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