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 journalArticlepeer-review

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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