The 2010 Ghent criteria classified 83% of FBN1 mutation probands as having Marfan syndrome compared to 89% with the 1996 criteria, resulting in a different diagnosis for 15% of patients.
Observational (n=1,009)
How do the 2010 new Ghent criteria compare to the 1996 Ghent criteria for diagnosing Marfan syndrome in patients with an FBN1 mutation?
The 2010 Ghent criteria for Marfan syndrome are easier to apply but reclassify about 15% of patients compared to the 1996 criteria, emphasizing the need for regular clinical and aortic follow-up.
Absolute Event Rate: 83% vs 89%
Faivre L, Collod‐Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan‐Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon‐Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G. The new Ghent criteria for Marfan syndrome: what do they change? The diagnosis of Marfan syndrome (MFS) is challenging and international criteria have been proposed. The 1996 Ghent criteria were adopted worldwide, but new diagnostic criteria for MFS were released in 2010, giving more weight to aortic root aneurysm and ectopia lentis. We aimed to compare the diagnosis reached by applying this new nosology vs the Ghent nosology in a well‐known series of 1009 probands defined by the presence of an FBN1 mutation. A total of 842 patients could be classified as MFS according to the new nosology (83%) as compared to 894 (89%) according to the 1996 Ghent criteria. The remaining 17% would be classified as ectopia lentis syndrome (ELS), mitral valve prolapse syndrome or mitral valve, aorta, skeleton and skin (MASS) syndrome, or potential MFS in patients aged less than 20 years. Taking into account the median age at last follow‐up (29 years), the possibility has to be considered that these patients would go on to develop classic MFS with time. Although the number of patients for a given diagnosis differed only slightly, the new nosology led to a different diagnosis in 15% of cases. Indeed, 10% of MFS patients were reclassified as ELS or MASS in the absence of aortic dilatation; conversely, 5% were reclassified as MFS in the presence of aortic dilatation. The nosology is easier to apply because the systemic score is helpful to reach the diagnosis of MFS only in a minority of patients. Diagnostic criteria should be a flexible and dynamic tool so that reclassification of patients with alternative diagnosis is possible, requiring regular clinical and aortic follow‐up.
Faivre et al. (Thu,) conducted a observational in Marfan syndrome (n=1,009). 2010 Ghent criteria vs. 1996 Ghent criteria was evaluated on Diagnosis of Marfan syndrome. The 2010 Ghent criteria classified 83% of FBN1 mutation probands as having Marfan syndrome compared to 89% with the 1996 criteria, resulting in a different diagnosis for 15% of patients.