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. 1992 Jul;29(7):487–489.

Echocardiography and genetic counselling in tuberous sclerosis.

D W Webb 1, R D Thomas 1, J P Osborne 1
PMCID: PMC1016025  PMID: 1640428

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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