Turner Syndrome Clinical Trial
Official title:
Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
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).
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. ;
Observational Model: Cohort, Time Perspective: Cross-Sectional
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