Síndrome de Williams-Beuren: anomalias cardiovasculares em 20 pacientes diagnosticados pela hibridazação in situ por fluorescência / Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization
Arq. bras. cardiol
; 81(5): 462-473, nov. 2003. ilus, tab
Article
in English, Portuguese
| LILACS
| ID: lil-351141
Responsible library:
BR1.1
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 percent) (positive FISH), and in 3 patients deletion was not detected (negative FISH). Sixteen patients with a positive FISH (94 percent) 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
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
In Situ Hybridization, Fluorescence
/
Williams Syndrome
/
Heart Defects, Congenital
Type of study:
Diagnostic study
/
Etiology study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
English
/
Portuguese
Journal:
Arq. bras. cardiol
Journal subject:
Cardiology
Year:
2003
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de São Paulo/BR