Clinical features and ultrasonographic findings of Williams syndrome in children
10.3760/cma.j.issn.1673-4912.2022.03.013
- VernacularTitle:儿童威廉斯综合征的临床特征和超声表现
- Author:
Wenfang YUAN
1
;
Wenjuan CHEN
;
Mengjie ZHOU
;
Hao LI
Author Information
1. 湖南省儿童医院超声科，长沙 410007
- Keywords:
Child;
Williams syndrome;
Ultrasonography
- From:
Chinese Pediatric Emergency Medicine
2022;29(3):220-223
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features and ultrasonographic features of Williams syndrome(WS) in children, and to explore the diagnostic value of ultrasonography in this disease.Methods:A retrospective analysis was performed on 19 children with abnormal echocardiography at Hunan Children′s Hospital from January 2016 to December 2020, and the abnormal echocardiography was evaluated by WS phenotypic scoring method of American Academy of Pediatrics.Cardiological CT and genetic tests were performed, and the clinical data and ultrasound image characteristics were analyzed.Results:The WS score of 19 cases was more than six, which was highly suspicious clinically.In 19 cases, supra-aortic stenosis and pulmonary stenosis were the most common findings on echocardiography, accounting for 63.2%(12/19), among which three cases were complicated with aortic arch constriction and one case with mitral lobe deformity.There were 15.8%(3/19)children with supra-aortic stenosis associated with pulmonary artery velocity increase, and 10.5%(2/19)children with left and right pulmonary artery branch stenosis associated with aortic inner diameter narrowing.Other cardiac malformations were found in 42.1%(8/19) of the children.Chromosome 7 microdeletions accounted for 68.4%(13/19) in genetic examination, and no abnormalities were found in three cases(15.8%, 3/19). The genetic results of three cases were still under follow-up.Conclusion:Echocardiography can accurately and sensitively detect cardiac lesions in children with WS.Combined with WS score of American Academy of Pediatrics, the diagnosis rate of WS can be improved.
