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
Artigo
em Inglês, Português
| LILACS
| ID: lil-351141
Biblioteca responsável:
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
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Hibridização in Situ Fluorescente
/
Síndrome de Williams
/
Cardiopatias Congênitas
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
/
Português
Revista:
Arq. bras. cardiol
Assunto da revista:
Cardiologia
Ano de publicação:
2003
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade de São Paulo/BR