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

Open Access

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

Abstract

Noonan syndrome is a genetic disorder leading to multiple congenital abnormalities and other  health complications, with an incidence of one in 1,000 to 2,500 live births. It is difficult to identify  because of its various clinical manifestations. This is the case of a 14-year old female admitted  for cardiac failure. The patient was born with normal birth weight but had stunted growth and  started walking at the age of five years old. She had speech as well as learning difficulties.  She had curly hair, deeply grooved philtrum, ptosis, hypertelorism, micrognathia, low set ears,  webbed neck, pectus carinatum, mild thoracic scoliosis and short stature. Her bone age was  in line with that of an 8–10 months old infant. Her luteinizing hormone level was below normal.  Echocardiography showed severe infundibular pulmonary stenosis, secundum atrial septal defect  (ASD), bidirectional shunt with a diameter of 2.1 cm, an anterior rim of 3.71 cm and a posterior  rim of 1.17 cm. She also had severe tricuspid regurgitation due to severe infundibular pulmonary  stenosis, and moderate mitral regurgitation due to posterior mitral leaflet prolapse. She received  hormonal therapy, an angiotensin-converting enzyme inhibitor, a beta-blocker, spironolactone and  furosemide. Resection of the infundibular muscle, ASD closure and repair mitral valve was planned.  

KEYWORDS: diagnosis, management, Noonan syndrome

  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/.