Vol. 47 | No. 2 | July-December 2019Back

Open Access

Noonan Syndrome in a 14-year-old Female with Heart Failure

More Info

Dian Aristi Nugraheni1 | Sri Lilijanti Widjaja2 | Alfa Alfin Nursidiq1 

1Department of Cardiology and Vascular Medicine, Faculty of Medicine Universitas Sebelas Maret,   Dr. Moewardi Hospital, Surakarta Indonesia 

2Pediatric Department of Faculty Medicine, Universitas Sebelas Maret,  Dr. Moewardi Hospital, Surakarta Indonesia

  1. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B,  Pierpont ME et al. Noonan syndrome: clinical features,  diagnosis, and manage¬ment guidelines. Pediatrics. 2010;126(4):746-759. 
  2. Noonan JA and Ehmke DA. Associated noncardiac malformations in children with congenital heart disease.  Midwest SocPediatr Res. 1963; 63:468–470 
  3. Preus M. Differential diagnosis of the Williams and the Noonan syndromes. Clinical Genetics. 1984;25:429-434. 
  4. Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I,  Sarkozy A, et al.Germline missense mutations affecting  KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet. 2006; 79(1):  129–135. 
  5. Binder G, Neuer K, Ranke MB, and Wittekindt NE. PTPN11 mutations are associated with mild growth hormone  resistance in individuals with Noonan syndrome. J Clin  Endocrinol Metab. 2005; 90:5377–5381. 
  6. Tartaglia M and Gelb BD. Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic  spectrum and molecular mechanisms. Ann N Y Acad Sci.  2010;1214: 99–121. 
  7. Marino B, Digilio MC, Toscano A, Giannotti A, and  Dallapiccola B. Congenital heart diseases in children with  Noonan syndrome: an expanded cardiac spectrum with  high prevalence of atrioventricular canal. J Pediatr. 1999;  135:703–706. 
  8. Patton MA. Noonan syndrome: a review. Growth Genet  Horm. 1994; 33:1–3 
  9. Bhambhani V and Muenke M. Noonan Syndrome. Am  Fam Physician. 2014;89(1):37-43. 
  10. Roberts AE, Allanson JE, Tartaglia M, and Gelb BD. Noonan  syndrome. Lancet. 2013 Jan 26;381(9863):333-342.

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits use, share — copy and redistribute the material in any medium or format, adapt — remix, transform, and build upon the material, as long as you give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. You may not use the material for commercial purposes. If you remix, transform, or build upon the material, you must distribute your contributions under the same license as the original. You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by-nc-sa/4.0/.