Noonan syndrome: Description of a case and review of the literature

Noonan syndrome is a rare disease characterized by dysmorphic face, congenital heart disease (pulmonary stenosis, hypertrophic cardiomyopathy) and short stature. Abnormal bleeding has been reported in several patients. Approximately half of all cases are sporadic, even though autosomal dominant inheritance with variable expression is also well established. In the absence of a biochemical and/or biomolecular marker, diagnosis of Noonan syndrome is still on a clinical basis. We describe the case of a 32-year-old male affected by Noonan syndrome. Particular attention has been paid to cardiovascular alterations associated with abnormalities of the coagulation system. In this report we underline the complexity of the cardiovascular involvement, describing the occurrence of an atrial septal aneurysm. Moreover, we focus on the importance of a detailed search for bleeding complications for a better management of these patients, even though coagulation parameter evaluation may not always predict bleeding risk. A review of the literature is also reported.