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SUPRAVALVULAR AORTIC STENOSIS

JAMA. 1966;198(12):1302-1303. doi:10.1001/jama.1966.03110250116033.
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In the eight years since the first clinical diagnosis of supravalvular aortic stenosis, many questions regarding this entity have been raised and some have been answered. Myers and Willis,1 in the December issue of the Archives of Internal Medicine, present four cases with diverse clinical manifestations, in an effort to emphasize the broad clinical spectrum of this disease. The characteristic lesion occurs as part of a syndrome which includes an "elfin" facies, mental retardation, peripheral pulmonary artery stenosis, and supravalvular aortic stenosis. However, the lesion occurs in an isolated form almost twice as commonly as in the more easily recognized syndrome. Family studies suggest that the complete syndrome occurs sporadically while the isolated lesion occurs in families. The investigators point out that, though the lesion can present without a significant murmur, most cases may be suspected from examination of the patient. A high index of suspicion based upon knowledge

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