Acquired Aortic Stenosis in a Twelve-Year-Old Girl with Xanthomatosis
- 16 December 1965
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 273 (25) , 1378-1380
- https://doi.org/10.1056/nejm196512162732507
Abstract
WE recently investigated and treated a twelve-year-old girl suffering from a tight supravalvular aortic stenosis related to familial hypercholesterolemia with xanthomatosis. Because of the rare occurrence of this lesion we consider this case worth reporting in detail.Case ReportThe patient was admitted for the 1st time in December, 1962, to Hôpital Sainte-Justine because of "xanthomatosis" and a heart murmur. She presented soft subcutaneous nodules on the heels, toes and elbows, between the fingers and also on the back and on the buttocks that had been noted since the age of 5. Except for slight exertional dyspnea there were no . . .Keywords
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