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Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene
Published online by Cambridge University Press: 22 December 2006
Abstract
Noonan's syndrome is an autosomal dominant genetic disease, in which mutation of the PTPN11 gene is found in from one-third to half of all cases. Pulmonary valvar stenosis and myocardiopathy are frequently associated cardiac malformations, whereas aortic valvar stenosis is rarely described. We report, as far as we know, the first case of familial Noonan syndrome with severe aortic valvar stenosis, demonstrating mutation of the PTPN11 gene in the father of the patient.
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- Brief Report
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- 2007 Cambridge University Press
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