BACKGROUND: Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We report a case of Noonan syndrome with giant coronary aneurysms. CASE REPORT: A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. Cross sectional echocardiography showed valvar and subvalvar pulmonary stenosis. The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms. CONCLUSIONS: These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome.
BACKGROUND:Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We report a case of Noonan syndrome with giant coronary aneurysms. CASE REPORT: A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. Cross sectional echocardiography showed valvar and subvalvar pulmonary stenosis. The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms. CONCLUSIONS: These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome.
Authors: Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober Journal: Genet Med Date: 2008-07 Impact factor: 8.822