Congenital heart defect of Noonan Syndrome
Noonan syndrome is autosomal dominant, approximately 50% of cases the disease is caused by mutations in the PTPN11 ( protein-phosphate non-receptor type 11) gene on chromosome12, which one is the most common hereditary diseases associated with the congenital heart defect, being second for the frequency of Down syndrome. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome was first recognized as a clinical entity in the sixties by Noonan and Ehmke. when they described several patients with pulmonary stenosis associated with characteristic facial anomalies, short stature, webbed neck, chest deformity, and undescended testes.
Other
Noonan syndrome is a common genetic disorder characterized clear by facial anomalies, congenital heart defects, chest deformities, undescended testes, short stature, and broad neck. The phenotypic of Noonan syndrome will be extremely variable, with a few affected subjects showing just minor features of typically the syndrome. Cardiac malformations will be also heterogeneous. Pulmonary stenosis, with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy, most popular congenital heart defects discovered in Noonan syndrome. Nevertheless, atrial septal defect, atrioventricular septal defect, left-sided obstructive lesions, tetralogy of Fallot and patent ductus arteriosus have also been described. Autosomal dominant inheritance features have been documented in some family members, although many cases seem to be sporadic. The diagnosis of Noonan syndrome clinical or a DNA test for mutation analysis be carried out in blood.
