Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

Chantal Stheneur, Laurence Faivre, Gwenaëlle Collod-Béroud, Elodie Gautier, Christine Binquet, Claire Bonithon-Kopp, Mireille Claustres, Anne H. Child, Eloisa Arbustini, Lesley C. Adès, Uta Francke, Karin Mayer, Mine Arslan-Kirchner, Anne De Paepe, Bertrand Chevallier, Damien Bonnet, Guillaume Jondeau, Catherine Boileau

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.

Original languageEnglish
Pages (from-to)265-270
Number of pages6
JournalPediatric Research
Volume69
Issue number3
DOIs
Publication statusPublished - Mar 2011

Fingerprint

Marfan Syndrome
Exons
Mutation
Diaphragmatic Hernia
Life Expectancy
Connective Tissue
Dilatation
Heart Failure
Databases
Population

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Stheneur, C., Faivre, L., Collod-Béroud, G., Gautier, E., Binquet, C., Bonithon-Kopp, C., ... Boileau, C. (2011). Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatric Research, 69(3), 265-270. https://doi.org/10.1203/PDR.0b013e3182097219

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. / Stheneur, Chantal; Faivre, Laurence; Collod-Béroud, Gwenaëlle; Gautier, Elodie; Binquet, Christine; Bonithon-Kopp, Claire; Claustres, Mireille; Child, Anne H.; Arbustini, Eloisa; Adès, Lesley C.; Francke, Uta; Mayer, Karin; Arslan-Kirchner, Mine; De Paepe, Anne; Chevallier, Bertrand; Bonnet, Damien; Jondeau, Guillaume; Boileau, Catherine.

In: Pediatric Research, Vol. 69, No. 3, 03.2011, p. 265-270.

Research output: Contribution to journalArticle

Stheneur, C, Faivre, L, Collod-Béroud, G, Gautier, E, Binquet, C, Bonithon-Kopp, C, Claustres, M, Child, AH, Arbustini, E, Adès, LC, Francke, U, Mayer, K, Arslan-Kirchner, M, De Paepe, A, Chevallier, B, Bonnet, D, Jondeau, G & Boileau, C 2011, 'Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year', Pediatric Research, vol. 69, no. 3, pp. 265-270. https://doi.org/10.1203/PDR.0b013e3182097219
Stheneur C, Faivre L, Collod-Béroud G, Gautier E, Binquet C, Bonithon-Kopp C et al. Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatric Research. 2011 Mar;69(3):265-270. https://doi.org/10.1203/PDR.0b013e3182097219
Stheneur, Chantal ; Faivre, Laurence ; Collod-Béroud, Gwenaëlle ; Gautier, Elodie ; Binquet, Christine ; Bonithon-Kopp, Claire ; Claustres, Mireille ; Child, Anne H. ; Arbustini, Eloisa ; Adès, Lesley C. ; Francke, Uta ; Mayer, Karin ; Arslan-Kirchner, Mine ; De Paepe, Anne ; Chevallier, Bertrand ; Bonnet, Damien ; Jondeau, Guillaume ; Boileau, Catherine. / Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. In: Pediatric Research. 2011 ; Vol. 69, No. 3. pp. 265-270.
@article{abe95d182b094cdbb8ab961228b4951d,
title = "Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year",
abstract = "Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82{\%} died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.",
author = "Chantal Stheneur and Laurence Faivre and Gwena{\"e}lle Collod-B{\'e}roud and Elodie Gautier and Christine Binquet and Claire Bonithon-Kopp and Mireille Claustres and Child, {Anne H.} and Eloisa Arbustini and Ad{\`e}s, {Lesley C.} and Uta Francke and Karin Mayer and Mine Arslan-Kirchner and {De Paepe}, Anne and Bertrand Chevallier and Damien Bonnet and Guillaume Jondeau and Catherine Boileau",
year = "2011",
month = "3",
doi = "10.1203/PDR.0b013e3182097219",
language = "English",
volume = "69",
pages = "265--270",
journal = "Pediatric Research",
issn = "0031-3998",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

AU - Stheneur, Chantal

AU - Faivre, Laurence

AU - Collod-Béroud, Gwenaëlle

AU - Gautier, Elodie

AU - Binquet, Christine

AU - Bonithon-Kopp, Claire

AU - Claustres, Mireille

AU - Child, Anne H.

AU - Arbustini, Eloisa

AU - Adès, Lesley C.

AU - Francke, Uta

AU - Mayer, Karin

AU - Arslan-Kirchner, Mine

AU - De Paepe, Anne

AU - Chevallier, Bertrand

AU - Bonnet, Damien

AU - Jondeau, Guillaume

AU - Boileau, Catherine

PY - 2011/3

Y1 - 2011/3

N2 - Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.

AB - Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.

UR - http://www.scopus.com/inward/record.url?scp=79951632176&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79951632176&partnerID=8YFLogxK

U2 - 10.1203/PDR.0b013e3182097219

DO - 10.1203/PDR.0b013e3182097219

M3 - Article

C2 - 21135753

AN - SCOPUS:79951632176

VL - 69

SP - 265

EP - 270

JO - Pediatric Research

JF - Pediatric Research

SN - 0031-3998

IS - 3

ER -