The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome
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The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. / Rybczynski, Meike; Bernhardt, Alexander M J; Rehder, Uwe; Fuisting, Bettina; Meiss, Ludwig; Voss, Ursula; Habermann, Christian; Detter, Christian; Robinson, Peter N; Arslan-Kirchner, Mine; Schmidtke, Jörg; Mir, Thomas S; Berger, Jürgen; Meinertz, Thomas; von Kodolitsch, Yskert.
in: AM J MED GENET A, Jahrgang 146, Nr. 24, 15.12.2008, S. 3157-3166.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome
AU - Rybczynski, Meike
AU - Bernhardt, Alexander M J
AU - Rehder, Uwe
AU - Fuisting, Bettina
AU - Meiss, Ludwig
AU - Voss, Ursula
AU - Habermann, Christian
AU - Detter, Christian
AU - Robinson, Peter N
AU - Arslan-Kirchner, Mine
AU - Schmidtke, Jörg
AU - Mir, Thomas S
AU - Berger, Jürgen
AU - Meinertz, Thomas
AU - von Kodolitsch, Yskert
N1 - Copyright (c) 2008 Wiley-Liss, Inc.
PY - 2008/12/15
Y1 - 2008/12/15
N2 - 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.
AB - 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.
KW - Adult
KW - Cohort Studies
KW - Female
KW - Fibrillins
KW - Humans
KW - Male
KW - Marfan Syndrome/complications
KW - Mass Screening
KW - Microfilament Proteins/genetics
KW - Mutation/genetics
KW - Syndrome
U2 - 10.1002/ajmg.a.32595
DO - 10.1002/ajmg.a.32595
M3 - SCORING: Journal article
C2 - 19012347
VL - 146
SP - 3157
EP - 3166
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 24
ER -