Pulmonic stenosis is a congenital valve abnormality often seen in genetic syndromes with cardiac manifestations. Among these, Noonan syndrome is the most frequently associated with pulmonic stenosis. Noonan syndrome is a genetic disorder characterized by distinctive facial features, short stature, and congenital heart defects, with pulmonic valve stenosis being the predominant cardiac lesion. The stenosis is usually valvular and caused by dysplastic pulmonary valve leaflets, leading to obstruction of right ventricular outflow.
Other syndromes listed do not typically present with pulmonic stenosis:
Turner syndrome is more commonly linked with bicuspid aortic valve and coarctation of the aorta, not pulmonic stenosis.
Eisenmenger syndrome refers to the advanced phase of congenital heart defects with significant pulmonary hypertension and is not a genetic syndrome.
Marfan syndrome is predominantly associated with aortic root dilation and mitral valve prolapse, but not with pulmonic stenosis.
This association is well documented in adult echocardiography guidelines and texts, such as the "Textbook of Clinical Echocardiography" by Catherine Otto, which clearly identifies Noonan syndrome as the syndrome most commonly associated with pulmonic stenosis among congenital heart defects【16:Chapter on Congenital Heart Disease†Textbook of Clinical Echocardiography, 6e】.
