Prevalence of Noonan Spectrum Disorders in Pediatric Patient
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A Study was conducted to investigate the prevalence of Noonan spectrum disorders (NSD) in a pediatric population with pulmonary valve stenosis (PVS) and explore other characteristics of NSD associated with PVS.

A retrospective medical record review was completed for patients with a diagnosis of PVS. Syndromic diagnoses, genotypes, cardiac characteristics and extra-cardiac characteristics associated with NSD were recorded.

--Syndromic diagnosis were made in 16% of 686 pediatric patients with PVS, with NSD accounting for 9% of the total diagnosis.

--Individuals with NSD were significantly more likely to have atrial septal defect (ASD) and/or hypertrophic cardiomyopathy (HCM) than the non-NSD individuals.

--Supravalvar pulmonary stenosis (SVPS) was also significantly correlated with NSD.

--Extracardiac clinical features presenting with PVS that were significantly associated with NSD included feeding issues, failure to thrive, developmental delay, short stature, and ocular findings.

--The strongest predictors of NSD diagnosis were cryptorchidism (70%), pectus abnormalities (66%) and ocular findings (48%).

--The presence of a second characteristic further increased this likelihood, the highest probability occurring with cryptorchidism combined with ocular findings (92%).

Finally, the 9% prevalence of NSD in PVS patients should warn clinicians to recognize NSD when meeting a child with PVS. The appearance of PVS with one or more NSD-related features should prompt a genetics evaluation and RAS pathway defect genetic testing. If a patient presents with SVPS, NSD should also be included in the differential.