How to cite this article: Rybczynski M, Bernhardt AMJ, Rehder U, Fuisting B, Meiss L, Voss U, Habermann C, Detter C, Robinson PN, Arslan-Kirchner M, Schmidtke J, Mir TS, Berger J, Meinertz T, von Kodolitsch Y. 2008. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet Part A 146A:3157–3166.
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome†
Article first published online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3157–3166, 15 December 2008
How to Cite
Rybczynski, M., Bernhardt, A. M.J., Rehder, U., Fuisting, B., Meiss, L., Voss, U., Habermann, C., Detter, C., Robinson, P. N., Arslan-Kirchner, M., Schmidtke, J., Mir, T. S., Berger, J., Meinertz, T. and von Kodolitsch, Y. (2008), The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am. J. Med. Genet., 146A: 3157–3166. doi: 10.1002/ajmg.a.32595
- Issue published online: 21 NOV 2008
- Article first published online: 14 NOV 2008
- Manuscript Accepted: 8 SEP 2008
- Manuscript Received: 23 APR 2008
- Marfan syndrome;
- Loeys–Dietz syndrome;
- MASS phenotype;
- FBN1 gene;
- TGFBR1 gene;
- TGFBR2 gene;
- genetic counseling
The diagnosis of Marfan syndrome (MFS) is based on evaluating a large number of clinical criteria. We have observed that many persons presenting in specialized centers for “Marfan-like” features do not have MFS, but exhibit a large spectrum of other syndromes. The spectrum of these syndromes and the distribution of “Marfan-like” features remain to be characterized. Thus, we prospectively evaluated 279 consecutive patients with suspected MFS (144 men and 135 women at a mean age of 34 ± 13 years) for presence of 27 clinical criteria considered characteristic of MFS. The most frequent reasons to refer individuals for suspected MFS were skeletal features (31%), a family history of MFS, or aortic complications (29%), aortic dissection or aneurysm (19%), and eye manifestations (9%). Using established criteria, we confirmed MFS in 138 individuals (group 1) and diagnosed other connective tissue diseases, both with vascular involvement in 30 (group 2) and without vascular involvement in 39 (group 3), and excluded any distinct disease in 72 individuals (group 4). Clinical manifestations of MFS were present in all four patient groups and there was no single clinical criterion that exhibited positive and negative likelihood ratios that were per se sufficient to confirm or rule out MFS. We conclude that “Marfan-like” features are not exclusively indicative of MFS but also of numerous, alternative inherited diseases with many of them carrying a hitherto poorly defined cardiovascular risk. These alternative diseases require future study to characterize their responses to therapy and long-term prognosis. © 2008 Wiley-Liss, Inc.