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FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression

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FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression. / Kuehne, Kristine; Keyser, Britta; Groene, Eike F; Sheikhzadeh, Sara; Detter, Christian; Lorenzen, Victoria; Hillebrand, Mathias; Bernhardt, Alexander M J; Hoffmann, Boris; Mir, Thomas S; Robinson, Peter N; Berger, Juergen; Reichenspurner, Hermann; Kodolitsch, Yskert; Rybczynski, Meike.

In: INT J CARDIOL, Vol. 168, No. 2, 2, 2013, p. 953-959.

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

Harvard

Kuehne, K, Keyser, B, Groene, EF, Sheikhzadeh, S, Detter, C, Lorenzen, V, Hillebrand, M, Bernhardt, AMJ, Hoffmann, B, Mir, TS, Robinson, PN, Berger, J, Reichenspurner, H, Kodolitsch, Y & Rybczynski, M 2013, 'FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression', INT J CARDIOL, vol. 168, no. 2, 2, pp. 953-959. https://doi.org/10.1016/j.ijcard.2012.10.044

APA

Kuehne, K., Keyser, B., Groene, E. F., Sheikhzadeh, S., Detter, C., Lorenzen, V., Hillebrand, M., Bernhardt, A. M. J., Hoffmann, B., Mir, T. S., Robinson, P. N., Berger, J., Reichenspurner, H., Kodolitsch, Y., & Rybczynski, M. (2013). FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression. INT J CARDIOL, 168(2), 953-959. [2]. https://doi.org/10.1016/j.ijcard.2012.10.044

Vancouver

Kuehne K, Keyser B, Groene EF, Sheikhzadeh S, Detter C, Lorenzen V et al. FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression. INT J CARDIOL. 2013;168(2):953-959. 2. https://doi.org/10.1016/j.ijcard.2012.10.044

Bibtex

@article{9046f493f09743e783b78a2155882475,
title = "FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression",
abstract = "BACKGROUND: Until today, FBN1 gene mutation characteristics were not compared with clinical features for the prediction of mitral valve disease progression.METHODS: Therefore, we conducted a study of 116 patients (53 men, 63 women aged 33 ± 15 years) with a causative FBN1 gene mutation and ≤ moderate mitral valve regurgitation at baseline.RESULTS: During 7.4 ± 6.8 years 30 patients developed progression of mitral valve regurgitation ≥ 1 grade (primary endpoint), and 26 patients required mitral valve surgery (secondary endpoint). Cox regression analysis identified an association of atrial fibrillation (hazard ratio (HR)=2.703; 95% confidence interval (CI) 1.013-7.211; P=.047), left ventricular ejection fraction (HR=.970; 95%CI .944-.997; P=.032), indexed end-diastolic left ventricular diameter (HR=15.165; 95%CI 4.498-51.128; P<.001), indexed left atrial diameter (HR=1.107; 95%CI 1.045-1.173; P=.001), tricuspid valve prolapse (HR=2.599; 95%CI 1.243-5.437; P=.011), posterior leaflet prolapse (HR=1.075; 95%CI 1.023-1.130; P=.009), and posterior leaflet thickening (HR=3.368; 95%CI 1.265-8.968; P=.015) with progression of mitral valve disease, whereas none of the FBN1 gene mutation characteristics were associated with progression of mitral valve disease. However, Cox regression analysis identified a marginal relationship of FBN1 gene mutations located both in a transforming-growth-factor beta-binding protein-like (TGFb-BP) domain (HR=3.453; 95%CI .982-12.143; P=.053), and in the calcium-binding epidermal growth factor-like (cbEGF) domain (HR=2.909; 95%CI .957-8.848; P=.060) with mitral valve surgery, a finding that was corroborated by Kaplan-Meier analysis (P=.014; and P=.041, respectively).CONCLUSION: Clinical features were better predictors of mitral valve disease progression than FBN1 gene mutation characteristics.",
keywords = "Adolescent, Adult, Aged, Child, Child, Preschool, Disease Progression, Female, Humans, Infant, Infant, Newborn, Male, Microfilament Proteins, Middle Aged, Mitral Valve Insufficiency, Mutation, Young Adult",
author = "Kristine Kuehne and Britta Keyser and Groene, {Eike F} and Sara Sheikhzadeh and Christian Detter and Victoria Lorenzen and Mathias Hillebrand and Bernhardt, {Alexander M J} and Boris Hoffmann and Mir, {Thomas S} and Robinson, {Peter N} and Juergen Berger and Hermann Reichenspurner and Yskert Kodolitsch and Meike Rybczynski",
note = "Copyright {\textcopyright} 2012 Elsevier Ireland Ltd. All rights reserved.",
year = "2013",
doi = "10.1016/j.ijcard.2012.10.044",
language = "English",
volume = "168",
pages = "953--959",
journal = "INT J CARDIOL",
issn = "0167-5273",
publisher = "Elsevier Ireland Ltd",
number = "2",

}

RIS

TY - JOUR

T1 - FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression

AU - Kuehne, Kristine

AU - Keyser, Britta

AU - Groene, Eike F

AU - Sheikhzadeh, Sara

AU - Detter, Christian

AU - Lorenzen, Victoria

AU - Hillebrand, Mathias

AU - Bernhardt, Alexander M J

AU - Hoffmann, Boris

AU - Mir, Thomas S

AU - Robinson, Peter N

AU - Berger, Juergen

AU - Reichenspurner, Hermann

AU - Kodolitsch, Yskert

AU - Rybczynski, Meike

N1 - Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

PY - 2013

Y1 - 2013

N2 - BACKGROUND: Until today, FBN1 gene mutation characteristics were not compared with clinical features for the prediction of mitral valve disease progression.METHODS: Therefore, we conducted a study of 116 patients (53 men, 63 women aged 33 ± 15 years) with a causative FBN1 gene mutation and ≤ moderate mitral valve regurgitation at baseline.RESULTS: During 7.4 ± 6.8 years 30 patients developed progression of mitral valve regurgitation ≥ 1 grade (primary endpoint), and 26 patients required mitral valve surgery (secondary endpoint). Cox regression analysis identified an association of atrial fibrillation (hazard ratio (HR)=2.703; 95% confidence interval (CI) 1.013-7.211; P=.047), left ventricular ejection fraction (HR=.970; 95%CI .944-.997; P=.032), indexed end-diastolic left ventricular diameter (HR=15.165; 95%CI 4.498-51.128; P<.001), indexed left atrial diameter (HR=1.107; 95%CI 1.045-1.173; P=.001), tricuspid valve prolapse (HR=2.599; 95%CI 1.243-5.437; P=.011), posterior leaflet prolapse (HR=1.075; 95%CI 1.023-1.130; P=.009), and posterior leaflet thickening (HR=3.368; 95%CI 1.265-8.968; P=.015) with progression of mitral valve disease, whereas none of the FBN1 gene mutation characteristics were associated with progression of mitral valve disease. However, Cox regression analysis identified a marginal relationship of FBN1 gene mutations located both in a transforming-growth-factor beta-binding protein-like (TGFb-BP) domain (HR=3.453; 95%CI .982-12.143; P=.053), and in the calcium-binding epidermal growth factor-like (cbEGF) domain (HR=2.909; 95%CI .957-8.848; P=.060) with mitral valve surgery, a finding that was corroborated by Kaplan-Meier analysis (P=.014; and P=.041, respectively).CONCLUSION: Clinical features were better predictors of mitral valve disease progression than FBN1 gene mutation characteristics.

AB - BACKGROUND: Until today, FBN1 gene mutation characteristics were not compared with clinical features for the prediction of mitral valve disease progression.METHODS: Therefore, we conducted a study of 116 patients (53 men, 63 women aged 33 ± 15 years) with a causative FBN1 gene mutation and ≤ moderate mitral valve regurgitation at baseline.RESULTS: During 7.4 ± 6.8 years 30 patients developed progression of mitral valve regurgitation ≥ 1 grade (primary endpoint), and 26 patients required mitral valve surgery (secondary endpoint). Cox regression analysis identified an association of atrial fibrillation (hazard ratio (HR)=2.703; 95% confidence interval (CI) 1.013-7.211; P=.047), left ventricular ejection fraction (HR=.970; 95%CI .944-.997; P=.032), indexed end-diastolic left ventricular diameter (HR=15.165; 95%CI 4.498-51.128; P<.001), indexed left atrial diameter (HR=1.107; 95%CI 1.045-1.173; P=.001), tricuspid valve prolapse (HR=2.599; 95%CI 1.243-5.437; P=.011), posterior leaflet prolapse (HR=1.075; 95%CI 1.023-1.130; P=.009), and posterior leaflet thickening (HR=3.368; 95%CI 1.265-8.968; P=.015) with progression of mitral valve disease, whereas none of the FBN1 gene mutation characteristics were associated with progression of mitral valve disease. However, Cox regression analysis identified a marginal relationship of FBN1 gene mutations located both in a transforming-growth-factor beta-binding protein-like (TGFb-BP) domain (HR=3.453; 95%CI .982-12.143; P=.053), and in the calcium-binding epidermal growth factor-like (cbEGF) domain (HR=2.909; 95%CI .957-8.848; P=.060) with mitral valve surgery, a finding that was corroborated by Kaplan-Meier analysis (P=.014; and P=.041, respectively).CONCLUSION: Clinical features were better predictors of mitral valve disease progression than FBN1 gene mutation characteristics.

KW - Adolescent

KW - Adult

KW - Aged

KW - Child

KW - Child, Preschool

KW - Disease Progression

KW - Female

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Microfilament Proteins

KW - Middle Aged

KW - Mitral Valve Insufficiency

KW - Mutation

KW - Young Adult

U2 - 10.1016/j.ijcard.2012.10.044

DO - 10.1016/j.ijcard.2012.10.044

M3 - SCORING: Journal article

C2 - 23176764

VL - 168

SP - 953

EP - 959

JO - INT J CARDIOL

JF - INT J CARDIOL

SN - 0167-5273

IS - 2

M1 - 2

ER -