PMID- 14666267
OWN - NLM
STAT- MEDLINE
DCOM- 20041101
LR  - 20190605
IS  - 0066-782X (Print)
IS  - 0066-782X (Linking)
VI  - 81
IP  - 5
DP  - 2003 Nov
TI  - Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed 
      with fluorescence in situ hybridization.
PG  - 462-73
AB  - 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.
FAU - Sugayama, Sofia Mizuho Miura
AU  - Sugayama SM
AD  - Instituto da Crianca do Hospital das Clinicas - FMUSP, Instituto do Coracao do 
      Hospital das Clinicas - FMUSP e Laboratorio Fleury - Sao Paulo, SP - Brazil. 
      sofiamms@ib.usp.br
FAU - Moises, Regina Lucia
AU  - Moises RL
FAU - Wagenfur, Jaqueline
AU  - Wagenfur J
FAU - Ikari, Nana Miura
AU  - Ikari NM
FAU - Abe, Kikue Terada
AU  - Abe KT
FAU - Leone, Claudio
AU  - Leone C
FAU - da Silva, Clovis Artur Almeida
AU  - da Silva CA
FAU - Lopes Ferrari Chauffaille, Maria de Lourdes
AU  - Lopes Ferrari Chauffaille Mde L
FAU - Kim, Chong Ae
AU  - Kim CA
LA  - eng
LA  - por
PT  - Journal Article
DEP - 20031201
PL  - Brazil
TA  - Arq Bras Cardiol
JT  - Arquivos brasileiros de cardiologia
JID - 0421031
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Follow-Up Studies
MH  - Heart Defects, Congenital/*diagnosis/etiology/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Prospective Studies
MH  - Retrospective Studies
MH  - Williams Syndrome/complications/*diagnosis/genetics
EDAT- 2003/12/11 05:00
MHDA- 2004/11/02 09:00
CRDT- 2003/12/11 05:00
PHST- 2003/12/11 05:00 [pubmed]
PHST- 2004/11/02 09:00 [medline]
PHST- 2003/12/11 05:00 [entrez]
AID - S0066-782X2003001300003 [pii]
AID - 10.1590/s0066-782x2003001300003 [doi]
PST - ppublish
SO  - Arq Bras Cardiol. 2003 Nov;81(5):462-73. doi: 10.1590/s0066-782x2003001300003. 
      Epub 2003 Dec 1.