Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg

2017 ◽  
Vol 58 (1) ◽  
pp. 41-43
Author(s):  
Arda Cetinkaya ◽  
Ali Karaman ◽  
Mehmet Burak Mutlu ◽  
Taner Yavuz
Keyword(s):  
Marfan Syndrome ◽  
Fbn1 Mutation

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

2008 ◽  
Vol 74 (1) ◽  
pp. 39-46 ◽  
Author(s):  
M Attanasio ◽  
I Lapini ◽  
L Evangelisti ◽  
L Lucarini ◽  
B Giusti ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Mutation Screening ◽  
Fbn1 Mutation

scholarly journals Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma

2013 ◽  
Vol 161 (4) ◽  
pp. 880-883 ◽  
Author(s):  
John Kuchtey ◽  
Ta Chen Chang ◽  
Lampros Panagis ◽  
Rachel W. Kuchtey
Keyword(s):  
Marfan Syndrome ◽  
Pigmentary Glaucoma ◽  
Fbn1 Mutation

FBN1 Mutation Does Not Influence Handling of Patients with Confirmed Marfan Syndrome

2013 ◽  
Vol 61 (S 02) ◽  
Author(s):  
V Stark ◽  
GC Müller ◽  
K Steiner ◽  
K Kutsche ◽  
J Weil ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Fbn1 Mutation

scholarly journals Longitudinal changes in aortic distensibility in patients with Marfan syndrome

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
M M Van Andel ◽  
V De Waard ◽  
J Timmermans ◽  
A J H A Scholte ◽  
M P Van Den Berg ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Aortic Root ◽  
Medication Use ◽  
Aortic Distensibility ◽  
Descending Aorta ◽  
Aortic Root Surgery ◽  
Younger Age ◽  
Fbn1 Mutation ◽  
Over Time ◽  
Mutation Type

Abstract Background Patients with Marfan syndrome (MFS) may develop aortic dissection due to progressive dilatation in the entire aorta. Increased aortic stiffness, i.e.a. decreased distensibility has been shown to often precede these dismal sequelae. Therefore, we investigated longitudinal changes in aortic distensibility throughout the entire aorta by means of Cardiac Magnetic Resonance (CMR) imaging in patients with MFS. Methods This retrospective study included all MFS patients with four CMR examinations performed between 1996 and 2012. Aortic distensibility was measured and calculated by a single analyst, in the ascending, proximal- and distal descending, and abdominal aorta. Changes in distensibility were studied using linear mixed-effects regression models. Furthermore, we investigated the association between distensibility and age, sex, blood pressure, medication use, FBN1 mutation type, and previous aortic root surgery. Results In total, 35 MFS patients (age at inclusion 28 [IQR 23–32] years, 54% male) were included. Mean aortic distensibility was low in the ascending and proximal descending aorta (resp. 3.25±1.87, 3.91±1.73x10–3 mmHg–1) at the first scan. Distensibility decreased significantly over time at level 2, 3, and 4 (resp. p=0.021, p=0.002, p=0.038) (Figure 1). The rate of distensibility loss per year (x10–3 mmHg–1/year) was respectively 0.04 and 0.06 in the proximal- and distal descending aorta. Men seemed to have a lower but more stable distensibility, whereas women showed a higher distensibility at younger age, but a faster deterioration rate over time (difference in distensibility loss per year between men and women: 0.08, p=0.038). Distensibility did not correlate significantly with medication use, FBN1 mutation type or previous aortic root surgery. Conclusion Patients with MFS have low distensibility at all levels of the aorta at young age, which keeps decreasing over time. Men had lower distensibility at younger age than women. Distensibility was stably low in men, while still deteriorating over time in women. FUNDunding Acknowledgement Type of funding sources: Private grant(s) and/or Sponsorship. Main funding source(s): AMC FoundationHorstingstuit Foundation

scholarly journals Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype

1998 ◽  
Vol 11 (S1) ◽  
pp. S198-S200 ◽  
Author(s):  
Cheryl Black ◽  
Anne P. Withers ◽  
Jonathon R. Gray ◽  
Allan B. Bridges ◽  
Ashley Craig ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Fbn1 Mutation

scholarly journals Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

2015 ◽  
Vol 8 (2) ◽  
pp. 383-388 ◽  
Author(s):  
Romy Franken ◽  
Alexander W. den Hartog ◽  
Teodora Radonic ◽  
Dimitra Micha ◽  
Alessandra Maugeri ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Fbn1 Mutation ◽  
Beneficial Outcome

Identification of an FBN1 mutation in bovine Marfan syndrome-like disease

2011 ◽  
Vol 43 (1) ◽  
pp. 11-17 ◽  
Author(s):  
T. Hirano ◽  
T. Matsuhashi ◽  
N. Kobayashi ◽  
T. Watanabe ◽  
Y. Sugimoto
Keyword(s):  
Marfan Syndrome ◽  
Fbn1 Mutation

scholarly journals Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation

1999 ◽  
Vol 64 (4) ◽  
pp. 993-1001 ◽  
Author(s):  
Terhi Rantamäki ◽  
Ilkka Kaitila ◽  
Ann-Christine Syvänen ◽  
Matti Lukka ◽  
Leena Peltonen
Keyword(s):  
Marfan Syndrome ◽  
Germ Line ◽  
Fbn1 Mutation

scholarly journals Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos

2018 ◽  
Vol 26 (11) ◽  
pp. 2631-2637 ◽  
Author(s):  
Yanting Zeng ◽  
Jianan Li ◽  
Guanglei Li ◽  
Shisheng Huang ◽  
Wenxia Yu ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Human Cells ◽  
Base Editing ◽  
Fbn1 Mutation
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