Echocardiographic and Doppler findings in the Williams syndrome

Abraham Brand*, Andre Keren, Ram M. Reifen, Eva Gross-Kieselstein, Naomi Amir

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Williams syndrome is a relatively rare, usually nonfamilial disorder, characterized by typical facial features, growth deficiency, mental retardation, microcephaly, variable cardiovascular abnormalities and occasionally hypercalcemia.1-8 The characteristic cardiovascular defects include stenosis, hypoplasia or atresia of major vessels, mainly of the supravalvular aortic segment1-8 and the pulmonary arteries.4 Most cases reported have had a precordial murmur that was related to major defects defined by cardiac catheterization or autopsy.1-8 However, in other cases the clinical condition of the patients did not warrant invasive investigation and the etiology of the murmurs remained speculative.2 The M-mode echocardiographic features of supraaortic stenosis have been described by Bolen et al.5 When 2-dimensional echocardiography was first developed, supraaortic stenosis was reported in a few cases.6,7 In a recent report, severe mitral regurgitation was described in 2 cases with Williams syndrome and myxomotous degeneration of the mitral valve.8 This report presents 6 consecutive patients with Williams syndrome and precordial murmurs in whom echocardiographic and Doppler evaluations were useful for differentiating innocent murmurs from structural abnormalities.

Original languageAmerican English
Pages (from-to)633-635
Number of pages3
JournalAmerican Journal of Cardiology
Volume63
Issue number9
DOIs
StatePublished - 1 Mar 1989

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