Noonan syndrome from a paediatric cardiologistˇs perspective
Authors:
E. Klásková
Authors place of work:
Dětská klinika, Lékařská fakulta Univerzity Palackého a Fakultní nemocnice, Olomouc
Published in the journal:
Čes-slov Pediat 2020; 75 (4): 227-331.
Category:
Summary
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
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2020 Číslo 4
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