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 language | English |
|---|---|
| Pages (from-to) | 265-270 |
| Number of pages | 6 |
| Journal | Pediatric Research |
| Volume | 69 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 2011 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
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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 journal › Article
}
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 -