The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve Stenosis
| Autor: | Leslie M. McCallen, Kathryn C. Chatfield, Ellen M. Considine, Janet M. Bell |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
musculoskeletal diseases
Male congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Protein Tyrosine Phosphatase Non-Receptor Type 11 Short stature medicine Prevalence Humans Spectrum disorder cardiovascular diseases skin and connective tissue diseases Genetic testing Retrospective Studies medicine.diagnostic_test business.industry Medical record Noonan Syndrome Hypertrophic cardiomyopathy Infant medicine.disease Pulmonary Valve Stenosis Stenosis Phenotype Child Preschool Pediatrics Perinatology and Child Health Pulmonary valve stenosis Failure to thrive Mutation cardiovascular system Female medicine.symptom business |
| Zdroj: | The Journal of pediatrics. 234 |
| ISSN: | 1097-6833 |
| Popis: | Objective To investigate the prevalence of Noonan spectrum disorders in a pediatric population with pulmonary valve stenosis (PVS) and explore other characteristics of Noonan spectrum disorders associated with PVS. Study design A retrospective medical record review was completed for patients with a diagnosis of PVS seen at the Children's Hospital Colorado Cardiology clinic between 2009 and 2019. Syndromic diagnoses, genotypes, cardiac characteristics, and extracardiac characteristics associated with Noonan spectrum disorders were recorded; statistical analysis was conducted using R. Results Syndromic diagnoses were made in 16% of 686 pediatric patients with PVS, with Noonan spectrum disorders accounting for 9% of the total diagnoses. Individuals with Noonan spectrum disorders were significantly more likely to have an atrial septal defect and/or hypertrophic cardiomyopathy than the non-Noonan spectrum disorder individuals. Supravalvar pulmonary stenosis was also correlated significantly with Noonan spectrum disorders. Extracardiac clinical features presenting with PVS that were significantly associated with Noonan spectrum disorders included feeding issues, failure to thrive, developmental delay, short stature, and ocular findings. The strongest predictors of a Noonan spectrum disorder diagnosis were cryptorchidism (70%), pectus abnormalities (66%), and ocular findings (48%). The presence of a second characteristic further increased this likelihood, with the highest probability occurring with cryptorchidism combined with ocular findings (92%). Conclusions The 9% prevalence of Noonan spectrum disorder in patients with PVS should alert clinicians to consider Noonan spectrum disorders when encountering a pediatric patient with PVS. The presence of PVS with 1 or more Noonan spectrum disorder-related features should prompt a genetic evaluation and genetic testing for RAS pathway defects. Noonan spectrum disorders should also be included in the differential when a patient presents with supravalvar pulmonary stenosis. |
| Databáze: | OpenAIRE |
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