Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization.
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.
Sugayama
Sofia Mizuho Miura
SM
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
Moisés
Regina Lúcia
RL
Wagënfur
Jaqueline
J
Ikari
Nana Miura
NM
Abe
Kikue Terada
KT
Leone
Cláudio
C
da Silva
Clóvis Artur Almeida
CA
Lopes Ferrari Chauffaille
Maria de Lourdes
Mde L
Kim
Chong Ae
CA
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