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The new Ghent criteria for Marfan syndrome: what do they change ?

L Faivre, G Collod-Beroud, L Adès, E Arbustini, A Child, Bert Callewaert UGent, Bart Loeys UGent, C Binquet, E Gautier and K Mayer, et al. (2012) CLINICAL GENETICS. 81(5). p.433-442
abstract
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
Marfan syndrome, Ghent criteria, new criteria, nosology, WEILL-MARCHESANI-SYNDROME, PATHOGENIC FBN1 MUTATIONS, I FIBRILLINOPATHIES, DIAGNOSTIC-CRITERIA, ECTOPIA LENTIS, 1009 PROBANDS, GENE, TGFBR2, MANIFESTATIONS, HOMOGENEITY
journal title
CLINICAL GENETICS
Clin. Genet.
volume
81
issue
5
pages
433 - 442
Web of Science type
Article
Web of Science id
000302617700007
JCR category
GENETICS & HEREDITY
JCR impact factor
3.944 (2012)
JCR rank
44/161 (2012)
JCR quartile
2 (2012)
ISSN
0009-9163
DOI
10.1111/j.1399-0004.2011.01703.x
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
2044822
handle
http://hdl.handle.net/1854/LU-2044822
date created
2012-02-24 16:40:17
date last changed
2012-09-19 13:31:05
@article{2044822,
  abstract     = {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.},
  author       = {Faivre, L and Collod-Beroud, G and Ad{\`e}s, L and Arbustini, E and Child, A and Callewaert, Bert and Loeys, Bart and Binquet, C and Gautier, E and Mayer, K and Arslan-Kirchner, M and Grasso, M and Beroud, C and Hamroun, D and Bonithon-Kopp, C and Plauchu, H and Robinson, P and De Backer, Julie and Coucke, Paul and Francke, U and Bouchot, O and Wolf, J and Stheneur, C and Hanna, N and Detaint, D and De Paepe, Anne and Boileau, C and Jondeau, G},
  issn         = {0009-9163},
  journal      = {CLINICAL GENETICS},
  keyword      = {Marfan syndrome,Ghent criteria,new criteria,nosology,WEILL-MARCHESANI-SYNDROME,PATHOGENIC FBN1 MUTATIONS,I FIBRILLINOPATHIES,DIAGNOSTIC-CRITERIA,ECTOPIA LENTIS,1009 PROBANDS,GENE,TGFBR2,MANIFESTATIONS,HOMOGENEITY},
  language     = {eng},
  number       = {5},
  pages        = {433--442},
  title        = {The new Ghent criteria for Marfan syndrome: what do they change ?},
  url          = {http://dx.doi.org/10.1111/j.1399-0004.2011.01703.x},
  volume       = {81},
  year         = {2012},
}

Chicago
Faivre, L, G Collod-Beroud, L Adès, E Arbustini, A Child, Bert Callewaert, Bart Loeys, et al. 2012. “The New Ghent Criteria for Marfan Syndrome: What Do They Change ?” Clinical Genetics 81 (5): 433–442.
APA
Faivre, L, Collod-Beroud, G., Adès, L., Arbustini, E., Child, A., Callewaert, B., Loeys, B., et al. (2012). The new Ghent criteria for Marfan syndrome: what do they change ? CLINICAL GENETICS, 81(5), 433–442.
Vancouver
1.
Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert B, et al. The new Ghent criteria for Marfan syndrome: what do they change ? CLINICAL GENETICS. 2012;81(5):433–42.
MLA
Faivre, L, G Collod-Beroud, L Adès, et al. “The New Ghent Criteria for Marfan Syndrome: What Do They Change ?” CLINICAL GENETICS 81.5 (2012): 433–442. Print.