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.
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.
Authors: R Erbel; S Rohmann; M Drexler; S Mohr-Kahaly; C D Gerharz; S Iversen; H Oelert; J Meyer Journal: Eur Heart J Date: 1988-01 Impact factor: 29.983
Authors: L I al-Gazali; R J Arthur; J T Lamb; H M Hammer; T P Coker; P N Hirschmann; J Gibbs; R F Mueller Journal: J Med Genet Date: 1989-11 Impact factor: 6.318