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The revised Ghent nosology for the Marfan syndrome

Bart Loeys UGent, Harry C Dietz, Alan C Braverman, Bert Callewaert UGent, Julie De Backer UGent, Richard B Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence Faivre and Dianna M Milewicz, et al. (2010) JOURNAL OF MEDICAL GENETICS. 47(7). p.476-485
abstract
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS-whether or not established correctly-can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
EHLERS-DANLOS-SYNDROME, ARTERIAL-TORTUOSITY-SYNDROME, MITRAL-VALVE-PROLAPSE, SHPRINTZEN-GOLDBERG SYNDROME, WEILL-MARCHESANI-SYNDROME, BICUSPID AORTIC-VALVE, DURAL ECTASIA, CONNECTIVE-TISSUE, FBN1 MUTATIONS, GENETIC-HETEROGENEITY
journal title
JOURNAL OF MEDICAL GENETICS
J. Med. Genet.
volume
47
issue
7
pages
476 - 485
Web of Science type
Article
Web of Science id
000279326400007
JCR category
GENETICS & HEREDITY
JCR impact factor
7.037 (2010)
JCR rank
16/154 (2010)
JCR quartile
1 (2010)
ISSN
0022-2593
DOI
10.1136/jmg.2009.072785
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1013955
handle
http://hdl.handle.net/1854/LU-1013955
date created
2010-07-22 15:11:14
date last changed
2010-09-15 14:32:38
@article{1013955,
  abstract     = {The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95\% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS-whether or not established correctly-can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.},
  author       = {Loeys, Bart and Dietz, Harry C and Braverman, Alan C and Callewaert, Bert and De Backer, Julie and Devereux, Richard B and Hilhorst-Hofstee, Yvonne and Jondeau, Guillaume and Faivre, Laurence and Milewicz, Dianna M and Pyeritz, Reed E and Sponseller, Paul D and Wordsworth, Paul and De Paepe, Anne},
  issn         = {0022-2593},
  journal      = {JOURNAL OF MEDICAL GENETICS},
  keyword      = {EHLERS-DANLOS-SYNDROME,ARTERIAL-TORTUOSITY-SYNDROME,MITRAL-VALVE-PROLAPSE,SHPRINTZEN-GOLDBERG SYNDROME,WEILL-MARCHESANI-SYNDROME,BICUSPID AORTIC-VALVE,DURAL ECTASIA,CONNECTIVE-TISSUE,FBN1 MUTATIONS,GENETIC-HETEROGENEITY},
  language     = {eng},
  number       = {7},
  pages        = {476--485},
  title        = {The revised Ghent nosology for the Marfan syndrome},
  url          = {http://dx.doi.org/10.1136/jmg.2009.072785},
  volume       = {47},
  year         = {2010},
}

Chicago
Loeys, Bart, Harry C Dietz, Alan C Braverman, Bert Callewaert, Julie De Backer, Richard B Devereux, Yvonne Hilhorst-Hofstee, et al. 2010. “The Revised Ghent Nosology for the Marfan Syndrome.” Journal of Medical Genetics 47 (7): 476–485.
APA
Loeys, B., Dietz, H. C., Braverman, A. C., Callewaert, B., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., et al. (2010). The revised Ghent nosology for the Marfan syndrome. JOURNAL OF MEDICAL GENETICS, 47(7), 476–485.
Vancouver
1.
Loeys B, Dietz HC, Braverman AC, Callewaert B, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. JOURNAL OF MEDICAL GENETICS. 2010;47(7):476–85.
MLA
Loeys, Bart, Harry C Dietz, Alan C Braverman, et al. “The Revised Ghent Nosology for the Marfan Syndrome.” JOURNAL OF MEDICAL GENETICS 47.7 (2010): 476–485. Print.