Echocardiography and genetic counselling in tuberous sclerosis.

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.