Echocardiographic and Doppler findings in the Williams syndrome

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 segment^1-8 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.