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Noonan syndrome associated with hypoplastic left heart syndrome

Published online by Cambridge University Press:  22 August 2022

Kendall M. Lawrence Open the ORCID record for Kendall M. Lawrence [Opens in a new window] ,
Danielle S. Burstein ,
Rebecca Ahrens-Nicklas ,
J. William Gaynor  and
Muhammad A. Nuri
Kendall M. Lawrence
Affiliation:
Division of Cardiovascular Surgery, University of Pennsylvania, Philadelphia, PA, USA
Danielle S. Burstein
Affiliation:
Division of Cardiology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Rebecca Ahrens-Nicklas
Affiliation:
Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
J. William Gaynor
Affiliation:
Division of Cardiothoracic Surgery, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Muhammad A. Nuri*
Affiliation:
Division of Cardiothoracic Surgery, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
*
Author for correspondence: Kendall M. Lawrence, MD, 3401 Civic Center Blvd, Division of Cardiac Surgery, Philadelphia, PA 19104, USA. E-mail: kendall.massengill@gmail.com
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Abstract

Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. Here, we report two patients with PTPN11-related Noonan syndrome and hypoplastic left heart syndrome variants.

Keywords

Noonan syndromehypoplastic left heart syndromelymphatic disorders
Type
Brief Report
Information
Cardiology in the Young , Volume 33 , Issue 4 , April 2023 , pp. 652 - 654
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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References

Roberts, AE, Allanson, JE, Tartaglia, M, Gelb, BD. Noonan syndrome. Lancet. 2013; 381: 333–342. DOI 10.1016/S0140-6736(12)61023-X.CrossRefGoogle ScholarPubMed
Pierpont, ME, Digilio, MC. Cardiovascular disease in Noonan syndrome. Curr Opin Pediatr. 2018; 30: 601–608. DOI 10.1097/MOP.0000000000000669.CrossRefGoogle ScholarPubMed
Linglart, L, Gelb, BD. Congenital heart defects in Noonan syndrome: diagnosis, management, and treatment. Am J Med Genet C Semin Med Genet. 2020; 184: 73–80. DOI 10.1002/ajmg.c.31765.CrossRefGoogle ScholarPubMed
Schulz, S, Fröber, R, Kraus, C, Schneider, U. Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. Prenat Diagn. 2012; 32: 1016–1018. DOI 10.1002/pd.3938.CrossRefGoogle ScholarPubMed
Tartaglia, M, Kalidas, K, Shaw, A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002; 70: 1555–1563. DOI 10.1086/340847.CrossRefGoogle ScholarPubMed
Digilio, MC, Romana Lepri, F, Dentici, ML, et al. Atrioventricular canal defect in patients with RASopathies. Eur J Hum Genet. 2013; 21: 200–204. DOI 10.1038/ejhg.2012.145.CrossRefGoogle ScholarPubMed
Dori, Y, Smith, C, Pinto, E, et al. Severe lymphatic disorder resolved with MEK inhibition in a patient with noonan syndrome and SOS1 mutation. Pediatrics 2020; 146: 333. DOI 10.1542/peds.2020-0167.CrossRefGoogle Scholar
Artoni, A, Selicorni, A, Passamonti, SM, et al. Hemostatic abnormalities in Noonan syndrome. Pediatrics 2014; 133: e1299–e1304. DOI 10.1542/peds.2013-3251.CrossRefGoogle ScholarPubMed
Smpokou, P, Zand, DJ, Rosenbaum, KN, Summar, ML. Malignancy in Noonan syndrome and related disorders. Clin Genet. 2015; 88: 516–522. DOI 10.1111/cge.12568.CrossRefGoogle ScholarPubMed
Andelfinger, G, Marquis, C, Raboisson, M-J, et al. Hypertrophic cardiomyopathy in Noonan Syndrome treated by MEK-inhibition. J Am Coll Cardiol. 2019; 73: 2237–2239. DOI 10.1016/j.jacc.2019.01.066.CrossRefGoogle ScholarPubMed