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Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis

Kailyn Anderson1, James Cnota2,3, Jeanne James4,5, Erin M. Miller2,3, Ashley Parrott3, Valentina Pilipenko1,2, Kathryn Nicole Weaver1,2, Amy Shikany3

1 Department of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
2 Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio
3 The Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
4 Department of Cardiology, Medical College of Wisconsin, Milwaukee, Wisconsin
5 Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin

* Corresponding Author: Amy Shikany, MS, The Heart Institute, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave MLC 7020, Cincinnati, OH 45229. Email: email

Congenital Heart Disease 2019, 14(2), 264-273. https://doi.org/10.1111/chd.12721

Abstract

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 < .0001), short stature (P < .0001), developmental delay (P < .0001), ophthalmological abnormalities (P < .0001), pectus carinatum/excavatum (P = .01), neurological abnormalities (P = .022), and aortic stenosis (P = .031) were present more often in individuals with NSD compared to nonsyndromic vPS. A logistic regression analysis showed a 4.8‐fold increase in odds for NSD for each additional characteristic (P < .0001).
Conclusions: At least 6% of the children with vPS have an underlying NSD. Individuals with vPS and NSD were significantly more likely to have additional features known to be associated with NSD than those with vPS without NSD. We conclude that vPS in the presence of one or more significant characteristics should prompt referral for genetic evaluation as a guide to ascertain patients at risk for NSD while optimizing the use of clinical genetics evaluation and potential genetic testing.

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Cite This Article

APA Style
Anderson, K., Cnota, J., James, J., Miller, E.M., Parrott, A. et al. (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
Vancouver Style
Anderson K, Cnota J, James J, Miller EM, Parrott A, Pilipenko V, et al. Prevalence of noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. Congeni Heart Dis. 2019;14(2):264-273 https://doi.org/10.1111/chd.12721
IEEE Style
K. Anderson et al., "Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis," Congeni. Heart Dis., vol. 14, no. 2, pp. 264-273. 2019. https://doi.org/10.1111/chd.12721



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