Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization
| Autor: | Claudio Leone, Maria de Lourdes Lopes Ferrari Chauffaille, Jaqueline Wagënfur, Nana Miura Ikari, Kikue Terada Abe, Clovis A. Silva, Regina Lúcia Moisés, Ae Kim Chong, Sofia Mizuho Miura Sugayama |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Heart Defects
Congenital Male Williams Syndrome medicine.medical_specialty lcsh:Diseases of the circulatory (Cardiovascular) system Williams-Beuren elastin Doppler echocardiography Bicuspid aortic valve Internal medicine medicine Mitral valve prolapse Humans supravalvular aortic stenosis Prospective Studies Child In Situ Hybridization Fluorescence Retrospective Studies medicine.diagnostic_test Pulmonary artery stenosis business.industry Infant medicine.disease Stenosis medicine.anatomical_structure lcsh:RC666-701 Pulmonary valve Child Preschool Cardiology cardiovascular system Female Radiology in situ hybridization Cardiology and Cardiovascular Medicine business Electrocardiography Supravalvular aortic stenosis Follow-Up Studies |
| Zdroj: | Arquivos Brasileiros de Cardiologia, Volume: 81, Issue: 5, Pages: 468-473, Published: NOV 2003 Arquivos Brasileiros de Cardiologia, Vol 81, Iss 5, Pp 468-473 (2003) Arquivos Brasileiros de Cardiologia v.81 n.5 2003 Arquivos Brasileiros de Cardiologia Sociedade Brasileira de Cardiologia (SBC) instacron:SBC |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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