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… 

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

The literature was reviewed and the challenges and concepts of diagnosing MFS in adults were discussed, with a focus on the Ghent nosology, which proposed more stringent clinical criteria but yielded similar frequencies of MFS to the Berlin nosology.

The Neurosurgical Manifestations of Marfan Syndrome

This chapter focuses on the diagnosis and management of Marfan’s syndrome and discusses some of the other possible spinal and cerebro-vascular sequelae of MFS relevant to neurosurgical practice.

The Early Diagnosis of the Marfan Syndrome: What is the Role of the Pediatric Dentist?

The aim of this article was to describe through two cases the orofacial manifestations of Marfan syndrome and to demonstrate the role of the pediatric dentist in the early diagnosis of this genetic defect from the oral pathognomonic signs of this syndrome.

Nouveautés dans le syndrome de Marfan § Recent progress in Marfan Syndrome

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.

Editorial comment: New diagnostic criteria for Marfan syndrome

  • R. Hennekam
  • Medicine
    American journal of medical genetics. Part A
  • 2012
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.

Marfan syndrome

  • E. Gonzales
  • Medicine
    Journal of the American Academy of Nurse Practitioners
  • 2009
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.

Marfan Syndrome

Recent advances in molecular, surgical, and clinical research have yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies.

Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults

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.
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References

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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.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

“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.

Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

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.

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

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.

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

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.

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A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome

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.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

The natural history of ATS in this series was less severe than previously reported, but it does indicate a risk for ischemic events and overt diabetes is not related to SLC2A10 mutations associated with ATS.
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