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

Sponsor

University of Aarhus (Other)

Overall Status

Completed

CT.gov ID

NCT01760668

Collaborator

(none)

Enrollment

Location

31.9

Duration (Months)

0.2

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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).

Condition or Disease	Intervention/Treatment	Phase
Turner Syndrome Bicuspid Aortic Valve Marfan Syndrome

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.

Study Design

Study Type:

Observational

Actual Enrollment :

5 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

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

Study Start Date :

Feb 1, 2013

Actual Primary Completion Date :

Oct 1, 2015

Actual Study Completion Date :

Oct 1, 2015

Arms and Interventions

Arm	Intervention/Treatment
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
Controls Men/females who died from conditions other than aortic dilation or dissection. Age 20-60 years.

Outcome Measures

Primary Outcome Measures

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]