Abstract
OBJECTIVE:
To assess echocardiography as an investigation for the detection of occult gene carriers in tuberous sclerosis.
PATIENTS:
Sixty parents of children with tuberous sclerosis who had been extensively investigated for signs of the disease and 60 age and sex matched controls.
PROCEDURE:
Blind study by two experienced echocardiographers and blind interpretation of video recordings by an adult cardiologist.
SETTING:
Cardiology department of a district general hospital.
RESULTS:
Two parents and three controls had bright echodense areas interpreted as possible rhabdomyomas.
CONCLUSIONS:
In our hands echocardiography of adults is not an investigation with a high specificity for gene detection in tuberous sclerosis.