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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, Vol. 146, No. 24, 15.12.2008, p. 3157-3166.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Rybczynski, M, Bernhardt, AMJ, Rehder, U, Fuisting, B, Meiss, L, Voss, U, Habermann, C, Detter, C, Robinson, PN, Arslan-Kirchner, M, Schmidtke, J, Mir, TS, Berger, J, Meinertz, T & von Kodolitsch, Y 2008, 'The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome', AM J MED GENET A, vol. 146, no. 24, pp. 3157-3166. https://doi.org/10.1002/ajmg.a.32595

APA

Rybczynski, M., Bernhardt, A. M. J., Rehder, U., Fuisting, B., Meiss, L., Voss, U., Habermann, C., Detter, C., Robinson, P. N., Arslan-Kirchner, M., Schmidtke, J., Mir, T. S., Berger, J., Meinertz, T., & von Kodolitsch, Y. (2008). The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. AM J MED GENET A, 146(24), 3157-3166. https://doi.org/10.1002/ajmg.a.32595

Vancouver

Rybczynski M, Bernhardt AMJ, Rehder U, Fuisting B, Meiss L, Voss U et al. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. AM J MED GENET A. 2008 Dec 15;146(24):3157-3166. https://doi.org/10.1002/ajmg.a.32595

Bibtex

@article{1917cc8440a04eb2b418c691c85cb8cc,
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.",
keywords = "Adult, Cohort Studies, Female, Fibrillins, Humans, Male, Marfan Syndrome/complications, Mass Screening, Microfilament Proteins/genetics, Mutation/genetics, Syndrome",
author = "Meike Rybczynski and Bernhardt, {Alexander M J} and Uwe Rehder and Bettina Fuisting and Ludwig Meiss and Ursula Voss and Christian Habermann and Christian Detter and Robinson, {Peter N} and Mine Arslan-Kirchner and J{\"o}rg Schmidtke and Mir, {Thomas S} and J{\"u}rgen Berger and Thomas Meinertz and {von Kodolitsch}, Yskert",
note = "Copyright (c) 2008 Wiley-Liss, Inc.",
year = "2008",
month = dec,
day = "15",
doi = "10.1002/ajmg.a.32595",
language = "English",
volume = "146",
pages = "3157--3166",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "24",

}

RIS

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 -