CLINICAL CASES   

Gazzetta Medica Italiana Archivio per le Scienze Mediche 2003 December;162(6):141-5

Copyright © 2003 EDIZIONI MINERVA MEDICA

language: English

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

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

Cardiology Unit, Civic Hospital, ASL n. 17, Este (Padova), Italy

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.