Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
The study aim is:
- To examine aortic tissue by light microscopy
- To examine aortic tissue by electron microscopy
- To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
- To examine aortic tissue using biochemistry including proteomics.
- 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).
Bicuspid Aortic Valve
|Study Design:||Observational Model: Cohort
Time Perspective: Cross-Sectional
|Official Title:||Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome|
- Histone modifications [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]Permissive and repressive histone modifications on the X-chromosome
- mRNA and non-coding RNAs [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]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 ] [ Designated as safety issue: No ]mapping DNA-methylations of CpG-islands
- Electron microscopic evaluation [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
- Karyotyping by FISH and conventional karyotyping [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
- Proteomics [ Time Frame: Cross sectional ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||February 2013|
|Estimated Study Completion Date:||November 2014|
|Estimated Primary Completion Date:||October 2014 (Final data collection date for primary outcome measure)|
Turner syndrome (TS)
TS verified by genotyping Age > 18 years awaiting operation due to aortic dilation
Marfan syndrome (MS)
Females with MS verified clinically or by genotyping Age > 18 years awaiting operation due to aortic dilation
Bicuspid aortic valve
females with bicuspid aortic valve Age > 18 years awaiting operation due to aortic dilation
Men/females who died from conditions other than aortic dilation or dissection. Age 20-60 years.
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.
|Contact: Christian Trolle, MD||+4561339269||Christian.Trolle@KI.AU.DK|
|Contact: Claus H Gravholt, MD, PhD||+45 7846 firstname.lastname@example.org|
|Department of Endocrinology and Internal medicine||Recruiting|
|Aarhus C, Denmark, 8000|
|Contact: Christian Trolle, MD +4561339269 Christian.Trolle@KI.AU.DK|
|Contact: Christian Trolle, MD +4561339269 email@example.com|
|Principal Investigator: Christian Trolle, MD|
|Principal Investigator:||Christian Trolle||Aarhus University Hospital|
|Study Director:||Claus H Gravholt, MD, Ph.d.||Aarhus University Hospital|