Noonan’s Syndrome Diagnosed at Second Decade of Life

Abstract

In 1963 Noonan and Ehmke described an autosomal dominant condition called Noonan syndrome in a group of patients with abnormal facial deformations, congenital heart diseases and various malformations. Its Incidence is 1 in 1000 to 2500 live births. One can miss the diagnosis in mildly affected cases as it usually depends on clinical features. We are presenting a case of a 24yr old Egyptian male, who was incidentally diagnosed to have Noonan's Syndrome by means of morphological, clinical and echocardiographic & magnetic resonance imaging (MRI) findings. This young patient had frequent spells of loss of consciousness. ECG showed runs of ventricular tachycardia with evidence of biventricular hypertrophy and severely impaired LV systolic function by ECHO. Treatment and prognosis varies from individual to individual according to its severity. Our patient was referred to electrophysiology department and underwent ICD implantation for secondary prevention of sudden cardiac death. This case report gives a clear cut management pathway when dealing with a newly identified adult Noonan. Most of the cases need multidisciplinary approach.