Clinical Trial: Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome

Brief Summary:

The study aim is:

  1. To examine aortic tissue by light microscopy
  2. To examine aortic tissue by electron microscopy
  3. To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
  4. To examine aortic tissue using biochemistry including proteomics.
  5. To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined.

30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital.

The investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).


Detailed Summary: Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general.
Sponsor: University of Aarhus

Current Primary Outcome:

  • Histone modifications [ Time Frame: Cross sectional ]
    Permissive and repressive histone modifications on the X-chromosome
  • mRNA and non-coding RNAs [ Time Frame: Cross sectional ]
    Identification of the entire transcriptome including both mRNA and non-coding RNAs (lincRNA as well as miRNA)from the X-chromosome
  • DNA-methylations of CpG-islands [ Time Frame: Cross sectional ]
    mapping DNA-methylations of CpG-islands
  • Electron microscopic evaluation [ Time Frame: Cross sectional ]
  • Karyotyping by FISH and conventional karyotyping [ Time Frame: Cross sectional ]
  • Proteomics [ Time Frame: Cross sectional ]


Original Primary Outcome:

  • Histone modifications [ Time Frame: Once ]
    Permissive and repressive histone modifications on the X-chromosome
  • mRNA and non-coding RNAs [ Time Frame: Once ]
    Identification of the entire transcriptome including both mRNA and non-coding RNAs (lincRNA as well as miRNA)from the X-chromosome
  • DNA-methylations of CpG-islands [ Time Frame: Once ]
    mapping DNA-methylations of CpG-islands
  • Light microscopic evaluation [ Time Frame: Once ]
    Light microscopic evaluation
  • Electron microscopic evaluation [ Time Frame: Once ]
    Electron microscopic evaluation
  • Karyotyping by FISH and conventional karyotyping [ Time Frame: Once ]
    Karyotyping by FISH and conventional karyotyping
  • Proteomics [ Time Frame: Once ]
    Proteomics


Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Aarhus

Dates:
Date Received: January 2, 2013
Date Started: February 2013
Date Completion:
Last Updated: May 23, 2016
Last Verified: June 2015