Isolated mitral regurgitation without supravalvular aortic stenosis is rarely identified in Williams syndrome. We describe the case of a 24-year-old man with isolated mitral regurgitation in Williams syndrome. Severe regurgitation due to prolapse of the anterior leaflet was noted in an echocardiogram and color Doppler, and a left ventriculogram showed grade IV regurgitation. No pressure gradient between the left ventricle and the ascending aorta was found. Mitral regurgitation had been noted since his birth, and pediatricians suspected Williams syndrome because of postnatal growth deficiency, mental deficiency, unusual personality, and unusual facial features in his childhood. The diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by the fluorescent in situ hybridization technique after his admission to our department. The patient underwent mitral valve replacement, and microscopic examination of the excised valve revealed myxomatous degeneration.
The first case of an aneurysm of the femoral artery occupationally exposed to a vibratory tool is described. A 72-year-old man with a right common femoral artery aneurysm had had an occupational history of putting a "breaker," which breaks concrete into pieces by means of powerful vibration, on the right groin for more than 10 years. The patient underwent aneurysmectomy and graft replacement, with reconstruction of the deep femoral artery. Pathologic examination of the resected aneurysm revealed fibrosis and lipid deposition in the intima, well-maintained elastic fibers without disruption in the media, and thickened adventitia, in place of the typical findings of atherosclerosis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.