title: Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.
abstract: Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%-53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential.
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Yskert
authors.initials: Y
authors.lastname: von Kodolitsch
authors.affiliation: Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium.
authors.forename: Julie
authors.initials: J
authors.lastname: De Backer
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Helke
authors.initials: H
authors.lastname: Schüler
authors.affiliation: Diagnostic and Interventional Radiology Department and Clinic, Berlin, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Bannas
authors.affiliation: Diagnostic and Interventional Radiology Department and Clinic, Berlin, Germany.
authors.forename: Cyrus
authors.initials: C
authors.lastname: Behzadi
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Alexander M
authors.initials: AM
authors.lastname: Bernhardt
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Mathias
authors.initials: M
authors.lastname: Hillebrand
authors.affiliation: Department of Ophthalmology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Bettina
authors.initials: B
authors.lastname: Fuisting
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Sara
authors.initials: S
authors.lastname: Sheikhzadeh
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Meike
authors.initials: M
authors.lastname: Rybczynski
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Tilo
authors.initials: T
authors.lastname: Kölbel
authors.affiliation: Department of Legal Medicine, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Püschel
authors.affiliation: Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Blankenberg
authors.affiliation: Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
keywords: FBN1; Ghent nosology; Marfan syndrome; aorta; diagnosis; mutation