Congenital heart defect of Noonan Syndrome

Abstract

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.