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). CONCLUSION: A detailed cardiac evaluation must be performed in all patients with Williams-Beuren syndrome due to the high frequency of cardiovascular abnormalities.

Woods of northeastern Peru, by Llewelyn Williams.

v.15(1936)

Flora of Guatemala / Paul C. Standley and Louis O. Williams.

v.24:pt.8:no.3(1967)

The Juglandaceae of Guatemala / Louis O. Williams and Antonio Molina R.

v.32:no.13(1970)

Tropical American plants, II / Louis O. Williams.

v.29:no.6(1961)

Flora of Guatemala / Paul C. Standley and Louis O. Williams.

v.24:pt.9:no.3-4(1973)

Flora of Guatemala / Paul C. Standley and Louis O. Williams.

v.24:pt.7:no.1(1961)

Tropical American plants, X / Louis O. Williams.

v.32:no.4(1968)

Tropical American plants, XI / Louis O. Williams.

v.32:no.12(1970)

Flora of Guatemala / Dorothy L. Nash, Louis O. Williams ; genera contributed by Kenneth M. Becker ... [et al.].

v.24:pt.12(1976)

Flora of Guatemala / Paul C. Standley and Louis O. Williams.

v.24:pt.7:no.4(1963)

Tropical American plants, VII / Louis O. Williams.

v.31:no.6(1965)

Flora of Guatemala / Paul C. Standley and Louis O. Williams.

v.24:pt.7:no.2(1962)