title: The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
abstract: The diagnosis of Marfan syndrome (MFS) is based on evaluating a large number of clinical criteria. We have observed that many persons presenting in specialized centers for "Marfan-like" features do not have MFS, but exhibit a large spectrum of other syndromes. The spectrum of these syndromes and the distribution of "Marfan-like" features remain to be characterized. Thus, we prospectively evaluated 279 consecutive patients with suspected MFS (144 men and 135 women at a mean age of 34+/-13 years) for presence of 27 clinical criteria considered characteristic of MFS. The most frequent reasons to refer individuals for suspected MFS were skeletal features (31%), a family history of MFS, or aortic complications (29%), aortic dissection or aneurysm (19%), and eye manifestations (9%). Using established criteria, we confirmed MFS in 138 individuals (group 1) and diagnosed other connective tissue diseases, both with vascular involvement in 30 (group 2) and without vascular involvement in 39 (group 3), and excluded any distinct disease in 72 individuals (group 4). Clinical manifestations of MFS were present in all four patient groups and there was no single clinical criterion that exhibited positive and negative likelihood ratios that were per se sufficient to confirm or rule out MFS. We conclude that "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. These alternative diseases require future study to characterize their responses to therapy and long-term prognosis.
authors.affiliation: Centre of Cardiology and Cardiovascular Surgery, The University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Meike
authors.initials: M
authors.lastname: Rybczynski
authors.forename: Alexander M J
authors.initials: AM
authors.lastname: Bernhardt
authors.forename: Uwe
authors.initials: U
authors.lastname: Rehder
authors.forename: Bettina
authors.initials: B
authors.lastname: Fuisting
authors.forename: Ludwig
authors.initials: L
authors.lastname: Meiss
authors.forename: Ursula
authors.initials: U
authors.lastname: Voss
authors.forename: Christian
authors.initials: C
authors.lastname: Habermann
authors.forename: Christian
authors.initials: C
authors.lastname: Detter
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
authors.forename: Mine
authors.initials: M
authors.lastname: Arslan-Kirchner
authors.forename: Jörg
authors.initials: J
authors.lastname: Schmidtke
authors.forename: Thomas S
authors.initials: TS
authors.lastname: Mir
authors.forename: Jürgen
authors.initials: J
authors.lastname: Berger
authors.forename: Thomas
authors.initials: T
authors.lastname: Meinertz
authors.forename: Yskert
authors.initials: Y
authors.lastname: von Kodolitsch
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005260:Female; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000175:diagnosis*; D008403:Mass Screening; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D013577:Syndrome
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins