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

University of Aarhus

Status: Completed

Conditions: Marfan Syndrome; Bicuspid Aortic Valve; Turner Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT01760668

1-10-72-561-12

Details and patient eligibility

About

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).

Full 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.

Enrollment: 5 patients

Sex: All

Ages: 18 to 90 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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)

Trial design

5 participants in 4 patient groups

Turner syndrome (TS)

Description:

TS verified by genotyping Age \> 18 years awaiting operation due to aortic dilation

Marfan syndrome (MS)

Description:

Females with MS verified clinically or by genotyping Age \> 18 years awaiting operation due to aortic dilation

Bicuspid aortic valve

Description:

females with bicuspid aortic valve Age \> 18 years awaiting operation due to aortic dilation

Controls

Description:

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