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

L. Targa, G. Conti, M. Formichi, A. Banzato, F. Caneve, F. Corbara

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)141-145
Number of pages5
JournalGazzetta Medica Italiana Archivio per le Scienze Mediche
Volume162
Issue number6
Publication statusPublished - Dec 2003

Keywords

  • Coagulation
  • Heart defects, congenital
  • Noonan syndrome, diagnosis

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Noonan syndrome: Description of a case and review of the literature'. Together they form a unique fingerprint.

  • Cite this

    Targa, L., Conti, G., Formichi, M., Banzato, A., Caneve, F., & Corbara, F. (2003). Noonan syndrome: Description of a case and review of the literature. Gazzetta Medica Italiana Archivio per le Scienze Mediche, 162(6), 141-145.