PMID- 18206036
OWN - NLM
STAT- MEDLINE
DCOM- 20090811
LR  - 20111017
IS  - 0253-3758 (Print)
IS  - 0253-3758 (Linking)
VI  - 35
IP  - 10
DP  - 2007 Oct
TI  - [Cardiovascular manifestations in 40 patients with Williams syndrome].
PG  - 904-7
AB  - OBJECTIVE: To evaluate the cardiovascular manifestations of Williams syndrome 
      (WS) confirmed by fluorescence in situ hybridization (FISH). METHODS: Between 
      July 2004 and January 2007, FISH was used to confirm diagnosis in 71 suspected WS 
      cases by detecting chromosome 7q microdeletion. Cardiovascular abnormalities were 
      assessed by echocardiography and Doppler echocardiography. RESULTS: Forty out of 
      71 patients were detected to have Elastin gene locus microdeletion, 25 patients 
      (25/40, 62.5%) had at least one cardiac anomaly; among these patients, 
      supravalvular aortic stenosis (SVAS) was diagnosed in 18 patients (18/25, 72%) 
      and 6 of them had complex abnormalities. Patent ductus arteriosus was diagnosed 
      in 3 patients (3/25, 12%, 1 was associated with other malformations), isolated 
      pulmonary stenosis in 1 patient (1/25, 4%), isolated coarctation of aorta in 2 
      patients (2/25, 8%), and hypertension in 2 patients (2/25, 8%), mild aortic 
      regurgitation in 2 patients, mild mitral regurgitation and moderate mitral 
      regurgitation in 3 patients respectively. CONCLUSION: A detailed cardiac 
      evaluation should be performed in all patients with Williams syndrome due to the 
      high frequency of cardiovascular abnormalities.
FAU - Xie, Chun-hong
AU  - Xie CH
AD  - The Children's Hospital of Zhejiang University School of Medicine, Hangzhou 
      310003, China.
FAU - Zhao, Zheng-yan
AU  - Zhao ZY
FAU - Yang, Jian-bin
AU  - Yang JB
FAU - Qin, Yu-feng
AU  - Qin YF
FAU - Shao, Jie
AU  - Shao J
FAU - Gong, Fang-qi
AU  - Gong FQ
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Xin Xue Guan Bing Za Zhi
JT  - Zhonghua xin xue guan bing za zhi
JID - 7910682
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aortic Stenosis, Supravalvular/*complications/diagnosis
MH  - Cardiovascular Abnormalities/*complications/diagnosis
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Infant
MH  - Male
MH  - Williams Syndrome/*complications/diagnosis
MH  - Young Adult
EDAT- 2008/01/22 09:00
MHDA- 2009/08/12 09:00
CRDT- 2008/01/22 09:00
PHST- 2008/01/22 09:00 [pubmed]
PHST- 2009/08/12 09:00 [medline]
PHST- 2008/01/22 09:00 [entrez]
PST - ppublish
SO  - Zhonghua Xin Xue Guan Bing Za Zhi. 2007 Oct;35(10):904-7.