Cited 9 times since 2013 (0.8 per year) source: EuropePMC Circulation journal : official journal of the Japanese Circulation Society, Volume 77, Issue 11, 29 5 2013, Pages 2793-2798 Clinical features differ substantially between Caucasian and Asian populations of Marfan syndrome. Franken R, den Hartog AW, van de Riet L, Timmermans J, Scholte AJ, van den Berg MP, de Waard V, Zwinderman AH, Groenink M, Yip JW, Mulder BJ
Background
Prevention of aortic dissection and sudden death in patients with Marfan syndrome (MFS) requires accurate diagnosis. MFS is diagnosed by the Ghent criteria, which are primarily based on clinical features of Caucasian MFS populations. We determined whether the Ghent criteria apply to Asian MFS populations.
Methods and results
In this multicenter study, we included 255 adult MFS patients according to the Ghent criteria of 2010. Patients were excluded if they were neither Caucasian nor Asian. The Asian MFS population (n=49) had a smaller body surface area (BSA: 1.8 m² vs. 2.0 m², P<0.001), a more severely affected aortic root (absolute aortic diameter: 42.9 mm vs. 43.3mm, P=0.802; corrected for BSA: 24.9 mm vs. 21.7 mm, P<0.001; Z-score: 4.5 vs. 3.6, P=0.013), and more often a positive systemic score (75.5% vs. 60.0%, P=0.045), but less frequently ectopia lentis (24.5% vs. 48.1%, P=0.004) compared with the Caucasian population (n=206).
Conclusions
The Ghent criteria do not necessarily apply to Asian MFS populations, resulting in a more severely affected cardiovascular system. This may be related to under diagnosis of MFS by multiple factors, including the use of Z-score, and genetic and racial differences. The Ghent criteria should be adapted for Asian populations in order to accurately diagnose MFS.
