Echocardiography and genetic counselling in tuberous sclerosis.
AUTOR(ES)
Webb, D W
RESUMO
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.
