Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
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Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. / Sheikhzadeh, S; Brockstädt, Lars; Habermann, C R; Sondermann, C; Bannas, P; Mir, T S; Staebler, A; Seidel, H; Keyser, B; Arslan-Kirchner, M; Kutsche, K; Berger, Juergen; Blankenberg, S; Kodolitsch, Yskert.
In: CLIN GENET, Vol. 86, No. 6, 01.12.2014, p. 545-551.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
AU - Sheikhzadeh, S
AU - Brockstädt, Lars
AU - Habermann, C R
AU - Sondermann, C
AU - Bannas, P
AU - Mir, T S
AU - Staebler, A
AU - Seidel, H
AU - Keyser, B
AU - Arslan-Kirchner, M
AU - Kutsche, K
AU - Berger, Juergen
AU - Blankenberg, S
AU - Kodolitsch, Yskert
N1 - © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2014/12/1
Y1 - 2014/12/1
N2 - The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non-skeletal score points (p < 0.001), and to the presence of ≥7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non-skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.
AB - The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non-skeletal score points (p < 0.001), and to the presence of ≥7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non-skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.
U2 - 10.1111/cge.12308
DO - 10.1111/cge.12308
M3 - SCORING: Journal article
C2 - 24344637
VL - 86
SP - 545
EP - 551
JO - CLIN GENET
JF - CLIN GENET
SN - 0009-9163
IS - 6
ER -