Bicuspid Aortic Valve, Marfan Syndrome, Turner Syndrome
Conditions
Keywords
Sex chromosome, Turner Syndrome, Marfan syndrome, Bicuspid aortic valve, Aortic Aneurysm, Epigenetics, Transcriptome, non-coding RNA, Electron microscopy, Proteomics
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 description
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.
Interventions
None listed
Sponsors
University of Aarhus
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 90 Years
Healthy volunteers
No
Inclusion criteria
Turner syndrome (TS). A. Inclusion * TS verified by genotyping * Age \> 18 years * Awaiting operation due to aortic dilation B. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery) Marfan syndrome (MS) A. Inclusion * Females with MS verified clinically or by genotyping * Age \> 18 years * Awaiting operation due to aortic dilation B. Exclusion \- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery) Bicuspid aortic valve A. Inclusion * Females with Bicuspid aortic valve * Age \> 18 years * Awaiting operation due to aortic dilation B. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery) Controls A. Inclusion * Men/females who died from conditions other than aortic dilation or dissection. * Age 20-60 years. B. Exclusion \- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Histone modifications | Cross sectional | Permissive and repressive histone modifications on the X-chromosome |
| mRNA and non-coding RNAs | 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 | Cross sectional | mapping DNA-methylations of CpG-islands |
| Electron microscopic evaluation | Cross sectional | — |
| Karyotyping by FISH and conventional karyotyping | Cross sectional | — |
| Proteomics | Cross sectional | — |
Countries
Denmark
Outcome results
None listed