Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Am J Med Genet A. 2012 May;158A(5):989-95. doi: 10.1002/ajmg.a.34392. Epub 2011 Dec 7.
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 Loeys-Dietz syndrome and MASS phenotype. The level of agreement between both nosologies was very high (κ = 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.
最近，为马凡综合征（MFS）的诊断制定了修订后的根特分类法，该分类法更侧重于主动脉根部瘤和晶状体异位。我们比较了根特分类法和修订后的根特分类法在怀疑患有 MFS 的成年韩国患者中的应用。从 1995 年 1 月至 2010 年 6 月，我们招募了 106 名年龄在 20 岁以上的患者，这些患者怀疑患有 MFS 并接受了原纤维蛋白 1 基因（FBN1）的基因分析。在 106 名患者中，86 名（81%）符合根特分类法的标准，84 名（79%）符合修订后的根特分类法的标准。两名符合根特分类法标准但不符合修订后的根特分类法标准的患者被诊断为 Loeys-Dietz 综合征和 MASS 表型。两种分类法之间的一致性非常高（κ=0.94，95%置信区间：0.86 至 1.0）。在阴性根特和修订后根特标准且无 FBN1 突变的 20 名患者中的 6 名（30%）被诊断为马凡样综合征。这些结果表明，符合旧根特标准的成年韩国患者几乎都符合新的 MFS 诊断标准。
