title: Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization.
abstract: OBJECTIVE
  To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome.
  
  
  METHODS
  We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and Doppler echocardiography. Fluorescence in situ hybridization (FISH) was used to confirm the diagnosis of the syndrome.
  
  
  RESULTS
  Elastin gene locus microdeletion was detected in 17 patients (85%) (positive FISH), and in 3 patients deletion was not detected (negative FISH). Sixteen patients with a positive FISH (94%) had congenital cardiovascular disease (mean age at diagnosis: 2,3 years old). We observed isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16). Four patients with severe supravalvular aortic stenosis underwent surgery (mean age: 5.7 years old), and 2 patients had normal pressure gradients (mean follow-up: 8.4 years).
  
  
  CONCLUSIONS
  A detailed cardiac evaluation must be performed in all patients with Williams-Beuren syndrome due to the high frequency of cardiovascular abnormalities.
authors.affiliation: Instituto da Criança do Hospital das Clínicas - FMUSP, Instituto do Coração do Hospital das Clínicas - FMUSP e Laboratório Fleury - São Paulo, SP - Brazil. sofiamms@ib.usp.br
authors.forename: Sofia Mizuho Miura
authors.initials: SM
authors.lastname: Sugayama
authors.forename: Regina Lúcia
authors.initials: RL
authors.lastname: Moisés
authors.forename: Jaqueline
authors.initials: J
authors.lastname: Wagënfur
authors.forename: Nana Miura
authors.initials: NM
authors.lastname: Ikari
authors.forename: Kikue Terada
authors.initials: KT
authors.lastname: Abe
authors.forename: Cláudio
authors.initials: C
authors.lastname: Leone
authors.forename: Clóvis Artur Almeida
authors.initials: CA
authors.lastname: da Silva
authors.forename: Maria de Lourdes
authors.initials: Mde L
authors.lastname: Lopes Ferrari Chauffaille
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D011446:Prospective Studies; D012189:Retrospective Studies; D018980:Williams Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics