The Utility of the Revised Ghent Nosology for Pediatric Marfan Syndrome

Abstract

Background: The Ghent nosology for Marfan syndrome was revised in 2010. It puts more weight on aortic root aneurysm, ectopia lentis and fibrillin-1 (FBN1) mutation. Skeletal findings on the old Ghent nosology are given less weight and the findings are defined as the systemic score.
Methods: We compared the old and revised Ghent nosology in Japanese pediatric patients with suspected Marfan syndrome. We enrolled 38 pediatric patients with diagnosed or suspected Marfan syndrome based on the old Ghent criteria, and the patients were followed at the University of Tokyo Hospital from April 2008 to December 2009.
Results: Thirteen patients fulfilled the criteria of the old Ghent nosology and twenty-two fulfilled the criteria of the revised nosology (p=0.0039). Of 22 patients fulfilled the revised nosology, seventeen patients had family histories (77%), ten had aortic root aneurysms (45%), ten had ectopia lentis (45%), and FBN1 mutation were detected in 2 out of 3 analyzed samples (67%). On the other hand, only 4 patients (18%) had enough systemic score points to fulfill the new criteria.
Conclusion: This revised nosology is easier to apply to children. Moreover, with the spread of FBN1 mutation analyses, improvement in diagnostic accuracy and an increase in the diagnosis of Marfan syndrome will be expected.