The revised Ghent nosology for the Marfan syndrome

@article{Loeys2010TheRG,
  title={The revised Ghent nosology for the Marfan syndrome},
  author={Bart L. Loeys and Harry C. Dietz and Alan C Braverman and Bert Callewaert and Julie De Backer and Richard B. Devereux and Yvonne Hilhorst‐Hofstee and Guillaume Jondeau and Laurence Faivre and Dianna M. Milewicz and Reed E. Pyeritz and Paul D. Sponseller and Paul Wordsworth and Anne De Paepe},
  journal={Journal of Medical Genetics},
  year={2010},
  volume={47},
  pages={476 - 485}
}
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… Expand

Paper Mentions

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Marfan syndrome (MFS) is a rare genetic disease (1/5000) characterized by the association of ocular impairment, cardiovascular disease and musculoskeletal disease. In some… Expand
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TLDR
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It is suggested that adult Korean patients who fulfill the old Ghent criteria almost all fulfill the new criteria for the diagnosis of MFS, and the level of agreement between both nosologies was very high. Expand
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The diagnosis remains sometimes difficult particularly during childhood, because of the great variability of expression of the disease, from neonatal Marfan syndrome, to a weak clinical expression and especiallyBecause of the evolution of the signs with the age, which no classification takes into account. Expand
Nouveautés dans le syndrome de Marfan
TLDR
The diagnosis remains sometimes difficult particularly during childhood, because of the great variability of expression of the disease, from neonatal Marfan syndrome, to a weak clinical expression and especiallyBecause of the evolution of the signs with the age, which no classification takes into account. Expand
Editorial comment: New diagnostic criteria for Marfan syndrome
  • R. Hennekam
  • Medicine
  • American journal of medical genetics. Part A
  • 2012
TLDR
It is concur that the diagnosis Marfan syndrome may have significant impact on the lives of patients, but that will not improve by changing the criteria, but only by educating society, including insurance companies, about the disorder. Expand
Marfan syndrome
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  • Journal of the American Academy of Nurse Practitioners
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An overview of Marfan syndrome, including diagnostic criteria, genetic factors involved, emerging theories for treatment, a case study, and an overview of genetic counseling for individuals and families of those with MFS is provided. Expand
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Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults
TLDR
It was found that both adults and children had similar high rates of aortic root dilatation, which equivocally indicate that the aforementioned abnormalities develop in early childhood, therefore, they may be used in the early identification of patients with MFS. Expand
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TLDR
More stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; and potential contribution of molecular analysis to the diagnosis of Marfan Syndrome are proposed. Expand
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome
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“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 and require future study to characterize their responses to therapy and long‐term prognosis. Expand
Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population.
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It was possible that the diagnosis of MS according to the Ghent nosology for Japanese patients was underestimated, especially for skeletal involvements. Expand
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
TLDR
Because of its implications for aortic follow-up, FBN1 molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected. Expand
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
TLDR
A significant difference was showed in the number of FBN1 mutations between patients fulfilling and those not fulfilling the diagnostic criteria for MFS, which seems to be a good predictor of the presence of anFBN1 mutation. Expand
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations
TLDR
It is confirmed that the majority of clinical manifestations of Marfan syndrome increase with age, which emphasizes the poor applicability of the international criteria to this diagnosis in childhood and the need for follow-up monitoring in cases of clinical suspicion of Mar fan syndrome. Expand
Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome
TLDR
The results support the clinical homogeneity but the genetic heterogeneity of Weill–Marchesani syndrome, and fail to distinguish AR from AD inheritance in individual cases. Expand
Evaluation of three different measurement methods for dural ectasia in Marfan syndrome.
TLDR
Considering the key role played by dural ectasia in reinforcing the diagnosis of Marfan syndrome according to the Ghent nosology, a standardized and reliable method should be sought. Expand
A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome
TLDR
Mitral valve prolapse and main pulmonary artery dilatation are common findings in MFS patients at all ages and are easy to assess with echocardiography, making them of limited value in the diagnostic evaluation. Expand
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
TLDR
Two SGS patients who harbour mutations in FBN1 are reported, suggesting a role for fibrillin-1 in early craniofacial and central nervous system development. Expand
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