A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

作者：Yang Jeong Hoon; Han Hyejin; Jang Shin Yi; Moon Ju Ryoung; Sung Kiick; Chung Tae Young; Lee Heung Jae; Ki Chang Seok; Kim Duk Kyung^*

来源：American Journal of Medical Genetics, Part A, 2012, 158A(5): 989-995.

DOI：10.1002/ajmg.a.34392

• Marfan syndrome
• Ghent nosology
• revised Ghent nosology
• fibrillin-1 gene
• Marfan-like syndromes

Recently, a revised Ghent nosology has been established for the diagnosis of Marfan syndrome (MFS) that puts more weight on the aortic root aneurysm and ectopia lentis. We compared the application of the Ghent and revised Ghent nosologies in adult Korean patients for whom there is suspicion of MFS. From January 1995 to June 2010, we enrolled 106 patients older than 20 years for whom there was suspicion of MFS, and who had undergone genetic analysis of the fibrillin-1 gene (FBN1). Of 106 patients, 86 patients (81%) fulfilled the criteria of the Ghent nosology, and 84 patients (79%) met the criteria of the revised Ghent nosology. The two patients who met the Ghent nosology criteria, but not the criteria of the revised Ghent nosology were diagnosed with LoeysDietz syndrome and MASS phenotype. The level of agreement between both nosologies was very high (??=?0.94, 95% confidence interval: 0.86 to 1.0). Marfan-like syndromes were diagnosed in 30% (6/20 patients) with negative Ghent and revised Ghent criteria and no FBN1 mutations. These results suggest that adult Korean patients who fulfill the old Ghent criteria almost all fulfill the new criteria for the diagnosis of MFS.

• 出版日期2012-5