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Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan’s syndrome
  1. J De Backer1,*,
  2. G J Nollen2,*,
  3. D Devos3,
  4. G Pals4,
  5. P Coucke1,
  6. K Verstraete3,
  7. E E van der Wall5,
  8. A De Paepe1,
  9. B J M Mulder2
  1. 1Center for Medical Genetics of the Ghent University Hospital, Ghent, Belgium
  2. 2Department of Cardiology of the Academic Medical Center, Amsterdam, the Netherlands
  3. 3Department of Radiology and Medical Imaging of the Ghent University Hospital, Ghent, Belgium
  4. 4Department of Molecular Genetics, VU University Medical Center, Amsterdam, the Netherlands
  5. 5Department of Cardiology of the Leiden University Medical Center, Leiden, the Netherlands
  1. Correspondence to:
    Dr Barbara J M Mulder
    Department of Cardiology, Room B2-240, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands; b.j.mulder{at}

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Marfan’s syndrome (MFS) is an autosomal dominant connective tissue disorder, with clinical manifestations in the skeletal, ocular, and cardiovascular organ systems, caused by mutations in the fibrillin 1 gene (FBN1). MFS shows full penetrance but with considerable clinical variability both between and within families. More than 500 different mutations have been identified so far, scattered throughout the gene and usually unique to individual families.

Prognosis in MFS is mainly determined by progressive dilatation of the aorta, potentially leading to aortic dissection and death at young age. Recently, we have shown that increased aortic stiffness is an independent predictor of progressive aortic dilatation.1

It has been suggested that genetic variation in FBN1 as assessed by analysis of an intragenic polymorphism (variable number tandem repeat (VNTR) polymorphism in intron 28) is an important factor contributing to risk associated with pulse pressure and aortic stiffness in healthy middle aged men and in patients with coronary artery disease.2,3 In patients with MFS the association between aortic stiffness and the FBN1 genotype or FBN1 mutations has not been investigated previously.

Our purpose was to investigate the association between aortic stiffness parameters and the FBN1 genotype in patients with MFS. The genotype was characterised by the mutation on the one hand and by a specific intragenic FBN1 polymorphism on the other.


A cohort of 67 patients with MFS (31 men, mean (SD) age 32 (10) years) representing 51 families with …

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  • * Both authors contributed equally to this manuscript

  • This study was supported by a grant from the Netherlands Heart Foundation (2000.108) (G J Nollen), by a research grant from Ghent University (BOF 011D4701) (J De Backer), and by a research grant from the Fund For Scientific Research Belgium (FWO G029002) (A De Paepe).

  • The study was approved by the local ethics committees (University Hospital Ghent, Belgium and Academic Medical Centre Amsterdam, the Netherlands) and individual oral and written informed consent was obtained from each patient.