Noonan syndrome physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Physical Examination
The most important part of the diagnosis of Noonan syndrome is a careful physical exam. Although patients often do not manifest all the features of the disorder, certain physical exam findings can orient towards the diagnosis:
- Cardiac auscultation can often detect signs of congenital or acquired heart disease in Noonan syndrome patients. The most common murmur is that of pulmonary stenosis, a harsh crescendo-decrescendo systolic ejection murmur hear best in the pulmonic area (the second intercostal space along the left sternal border). Significant splitting of S2 can also be heard that can be secondary to the RV outflow tract obstruction or and underlying ASD. Another possible finding is a systolic ejection murmur at the aortic site without radiation to the carotids that decreases with squatting or handgrip maneuvers signifying the possible presence of hypertrophic cardiomyopathy.
References
Template:Phakomatoses and other congenital malformations not elsewhere classified