Cardiovascular manifestations in 40 patients with Williams syndrome.
- Author:
Chun-hong XIE
1
;
Zheng-yan ZHAO
;
Jian-bin YANG
;
Yu-feng QIN
;
Jie SHAO
;
Fang-qi GONG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aortic Stenosis, Supravalvular; complications; diagnosis; Cardiovascular Abnormalities; complications; diagnosis; Child; Child, Preschool; Female; Humans; Infant; Male; Williams Syndrome; complications; diagnosis; Young Adult
- From: Chinese Journal of Cardiology 2007;35(10):904-907
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the cardiovascular manifestations of Williams syndrome (WS) confirmed by fluorescence in situ hybridization (FISH).
METHODSBetween 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.
RESULTSForty 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.
CONCLUSIONA detailed cardiac evaluation should be performed in all patients with Williams syndrome due to the high frequency of cardiovascular abnormalities.
