Noonan syndrome from a paediatric cardiologistˇs perspective
Authors:
E. Klásková
Authors‘ workplace:
Dětská klinika, Lékařská fakulta Univerzity Palackého a Fakultní nemocnice, Olomouc
Published in:
Čes-slov Pediat 2020; 75 (4): 227-331.
Category:
Overview
Noonan syndrome (NS) represents a genetic disorder associated with a high prevalence of cardiovascular disease, especially pulmonary valve stenosis, hypertrophic cardiomyopathy, atrial septal defect, and atrioventricular canal. These cardiac defects could be the first symptoms which lead to the suspicion of NS. Even if diagnosis of NS is based on clinical criteria, the molecular testing plays a key role in establishing genotype/phenotype correlation and enables better stratification of the cardiovascular risk in the future. More than 50% of patients with Noonan syndrome harbor PTPN11 pathogenic variant.
Keywords:
molecular genetic testing – hypertrophic cardiomyopathy – Noonan syndrome – pulmonary valve stenosis – ECG changes
Sources
1. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985; 21: 493–506.
2. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126: 746–759.
3. Noonan JA, Ehmke DA. Associated noncardiac malfomations in children with congenital heart disease. J Pediatr 1963; 63: 468–470.
4. Noonan JA, Lexington K. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968; 116 (4): 373–380.
5. Opitz JM, Summitt RL, Sarto GE. Noonan‘s syndrome in girls: A genocopy of Ullrich-Turner syndrome. J Pediatr 1965; 67: 968.
6. Ford CE, Jones KW, Polani DE, et al. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner‘s syndrome). Lancet 1959; 7075 (1): 711–713.
7. Linglart L, Gelb BD. Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. Am J Med Genet Part C 2020; 1–8.
8. Johnston JJ, Smagt van der JJ, Rosenfeld JA. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med 2018; 20 (10): 1175–1185.
9. Pierpont ME, Digillio MC. Cardiovascular disease in Noonan syndrome. Curr Opin Pediatr 2018; 30 (5): 601–608.
10. Burgt van der I, Berends E, Lommen E, et al. Clinical and molecular studies in a large dutch – Family with Noonan syndrome. Am J Med Genet 1994; 53 (2): 187–191.
11. Colquitt LC, Noonan JA. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit Heart Dis 2014; 9 (2): 264–273.
12. Holzmann J, Tibby SM, Rosenthal E, et al. Results of balloon pulmonary valvoplasty in children with Noonan´s syndrome. Cardiol Young 2018; 28 (5): 647–652.
13. Anderson K, Cnota J, James J, et al. Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. Congenit Heart Dis 2019; 14 (2): 264–273.
14. Digilio MC, Lepri FR, Dentici ML, et al. Atrioventricular canal defect in patients with RASopaties. Eur J Hum Genet 2013; 21: 200–204.
15. Pavlicek J, Gruszka T, Polanska S, et al. Parents’ request for termination of pregnancy due to a congenital heart defect of the fetus in a country with liberal interruption laws. J Matern-Fetal Neo Med 2019; 1–9.
16. Alexander PMA, Nugent AW, Daubeney PEF, et al. Long-term outcomes of hypertrophic cardiomyopathy diagnosed during childhood. Results from a National Population-Based Study. Circulation 2018; 138: 29–36.
17. Wilkinson JD, Lowe AM, Salbert BA, et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012; 164: 442–448.
18. Raaijmakers R, Noordam C, Noonan JA. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome? Eur J Pediatr 2008; 167: 1363–1367.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2020 Issue 4
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