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.
ABSTRACT
The children with dilated cardiomyopathy (DCM) are in the different stages of growth and development,so the measurements of the cardiac size and the function in the echocardiography can change with those growth and development.But the influence factors of growth and development had been ignored by the previous standards,which was not conducive to evaluate the efficacy of drugs and the prognosis of patients.The disadvantages above can be overcome by converting the echocardiographic measurements into the Z score after correction of the body surface area.With the development of the ultrasonic technology,there have been some studies of the Z score combined with the ultrasound to assess the left/right ventricular heart function and prognosis in children with dilated cardiomyopathy.The progresses of Z score in children with dilated cardiomyopathy were reviewed in this article.