Objective: To evaluate the prevalence of Noonan spectrum disorders (NSD) in a pediatric population with valvar pulmonary stenosis (vPS) and identify the clinical characteristics that differentiate those with NSD from those without NSD. Design: A retrospective chart review of 204 patients diagnosed with vPS between 9/1/2012 and 12/1/2016 at a pediatric medical center was performed. The quantitative features of vPS, genetic diagnosis information, and phenotypic characteristics of Noonan syndrome were collected. Chi-square test, Fisher’s exact test, t test, Wilcoxon rank-sum test, and ANOVA were used for comparisons among the groups. Logistic regression was used to test for the association between the clinical characteristics and the presence of NSD. Results: Syndromic diagnoses were made in 10% of the children with vPS, with NSD accounting for 6%. Hypertrophic cardiomyopathy (P
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Anderson, K., Cnota, J., James, J., Miller, E. M., Parrott, A., Pilipenko, V., … Shikany, A. (2019). Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. Congenital Heart Disease, 14(2), 264–273. https://doi.org/10.1111/chd.12721
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