title: Echocardiographic findings in patients with Williams-Beuren syndrome.
abstract: BACKGROUND
  Williams-Beuren syndrome is a multisystem developmental disorder caused by a microdeletion at chromosome 7q11.23. In its classic form it includes dysmorphic facial features, joint contractures, retardation of growth and mental development, gregarious personality, visuospatial cognitive deficits, hypercalcemia, primary or secondary hypertension and cardiovascular disorders.
  
  
  OBJECTIVE
  Clinical diagnosis of Williams-Beuren syndrome can be a challenge in young patients if none of the characteristic cardiovascular features, i.e. supravalvular aortic stenosis or pulmonary artery stenosis, are present. Our aim was to demonstrate the changes in cardiovascular lesions during the postnatal development of Williams-Beuren patients and to follow all cardiovascular findings beyond the most common ones.
  
  
  METHODS
  The cardiovascular status of 29 patients with Williams-Beuren syndrome (mean age 12.8 years) was recorded in correlation with age.
  
  
  RESULTS
  Cardiovascular diagnoses changed in the majority (72.4%) of patients. Interestingly, 44.8% of the patients had periods with no reported cardiovascular disease. Furthermore, 65.5% of the patients experienced periods when none of the typical cardiovascular lesions, i.e. diffuse or localized supravalvular aortic stenosis and/or pulmonary artery stenosis, were detected. Spontaneous regression and progression of both supravalvular aortic stenosis and pulmonary artery stenosis were observed. An unexpectedly high frequency (41%) of mitral valve disorders was found.
  
  
  CONCLUSIONS
  Our study showed that temporary absence of and changes in cardiovascular findings are frequent in Williams-Beuren syndrome. These results could contribute to the refinement of diagnostic criteria and recommendations for cardiovascular follow-up of patients with this syndrome.
authors.affiliation: Semmelweis Medical School, Budapest, Hungary.
authors.forename: Dora
authors.initials: D
authors.lastname: Scheiber
authors.forename: Gyorgy
authors.initials: G
authors.lastname: Fekete
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Urban
authors.forename: Ildiko
authors.initials: I
authors.lastname: Tarjan
authors.forename: Gergely
authors.initials: G
authors.lastname: Balaton
authors.forename: Lajos
authors.initials: L
authors.lastname: Kosa
authors.forename: Katalin
authors.initials: K
authors.lastname: Nagy
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Vajo
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001017:Aortic Coarctation / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003251:Constriction, Pathologic / Q000000981:diagnostic imaging; D018450:Disease Progression; D004452:Echocardiography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging; D008945:Mitral Valve Prolapse / Q000000981:diagnostic imaging; D011651:Pulmonary Artery / Q000000981:diagnostic imaging; D012075:Remission, Spontaneous; D013997:Time Factors; D018980:Williams Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics