A Case of Noonan Syndrome Combined with Infundibular Pulmonic Stenosis

The Noonan syndrome is a rate clinical syndrome associated with similar congenital abnormalities, that is characteristics of Turner syndrome, such as short stature, webbed neck, low posterior hairline, cubitus valgus, shield chest or funnel chest, congenital features similar to Turner syndrome but with a normal karyotype, and Opitz et al. proposed the name "Noonan syndrome" for this condition in 1965. We experienced a 31-year old man with Noonan syndrome combined with valvular and infundibular pulmonic stenosis who had short stature, webbed neck and normal karyotype. So we report a case Noonan syndrome with a review of literature.

Doppler Echocardiography in the Diagnosis and the Estimation of the Severity of the Infundibular Pulmonic Stenosis

BACKGROUND: The diagnosis and estimation of severity of infundibular pulmonic stenosis (PS) is difficult by two-dimensional or M-mode echocardiography. In continuous wave(CW) Doppler signal valvular PS is seen as a parabolic velocity profile but infundibular PS is seen as a velocity signal with its peak in late systole. The purpose of this study is that Doppler echocardiography can discriminate valvular PS from infundibular PS and assess the severity of infundibular obstruction. METHOD: Six patients with valvular and infundibular PS by Doppler echocardiography and cardiac catheterization were studied. All had been undergone surgery. We compared their Doppler echocardiographic and cardiac catheterization finding with surgical finding. RESULT: 1) CW Doppler signal of infundibular PS had lesser peak velocity(2.84m/sec vs 4.33m/sec, p < 0.05) and later systolic peak in velocity(AT/ET ratio : 0.73 vs 0.51, p < 0.05) than that of valvular PS. 2) Pressure gradient across the infundibular obstruction measured by Doppler echocardiography correlated well with that by cardiac catheterization(r=0.89, p < 0.05). 3) Operation finding showed infundibular PS in 5 case but not one and coexisting other anomaly such as ASD in 4 case, TOF in 1 case, PAPVR in 1 case. CONCLUSION: Doppler echocardiography is a useful noninvasive method for the diagnosis and the estimation of severity of infundibular obstruction in patient with PS.