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  • Title: [Extended aortoplasty for supravalvular aortic stenosis with Williams syndrome].
    Author: Nagasaka S, Taniguchi S, Kawata T, Mizuguchi K, Kawachi K, Kitamura S.
    Journal: Nihon Kyobu Geka Gakkai Zasshi; 1997 Apr; 45(4):601-6. PubMed ID: 9155132.
    Abstract:
    We report a male case of supravalvular aortic stenosis associated with Williams syndrome requiring surgery at age 11. At 5 years of age, this boy presented with a harsh systolic heart murmur and was diagnosed as having a supravalvular aortic stenosis. In association with mental retardation, elfin face and bilateral inguinal hernias, he was diagnosed as a Williams syndrome confirmed by the chromosomal analysis revealing the deletion of 7q11.23. The pressure gradient across the stenotic lesion of the ascending aorta, which had been 35 mmHg at age 5, progressed to 80 mmHg at age 11 years. Extended aortoplasty was performed using a patch of 20 mm Hemashield graft prosthesis. Postoperative cardiac catheterization confirmed that the pressure gradient in the ascending aorta completely disappeared following surgery.
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