title: Echocardiography and genetic counselling in tuberous sclerosis.
abstract: OBJECTIVE
  To assess echocardiography as an investigation for the detection of occult gene carriers in tuberous sclerosis.
  
  
  METHODS
  Sixty parents of children with tuberous sclerosis who had been extensively investigated for signs of the disease and 60 age and sex matched controls.
  
  
  METHODS
  Blind study by two experienced echocardiographers and blind interpretation of video recordings by an adult cardiologist.
  
  
  METHODS
  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.affiliation: Bath Unit for Research into Paediatrics, Royal United Hospital, Combe Park.
authors.forename: D W
authors.initials: DW
authors.lastname: Webb
authors.forename: R D
authors.initials: RD
authors.lastname: Thomas
authors.forename: J P
authors.initials: JP
authors.lastname: Osborne
mesh_terms: D000328:Adult; D004452:Echocardiography; D005069:Evaluation Studies as Topic; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D006338:Heart Neoplasms / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D012207:Rhabdomyoma / Q000000981:diagnostic imaging; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging* / Q000235:genetics