Prospective Characterization of the Heart, Aorta and Blood Pressure in Turner Syndrome. Association With Aortic Dissection.

Study Overview
=================
Brief Summary
-----------------
Turner syndrome is a congenital complete or partial lack 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. Our study aim is: Using MRI to further characterize and find risk factors leading to aortic dilation. Using MRI to assess the degree of aortic distensibility. Using Computed tomography x-ray scanning of the heart and coronary arteries to characterize the prevalence and degree of ischemic heart disease and coronary anomalies. Using pressure sensitive ultrasound (applanation tonometry) to assess the degree of aortic stiffness when compared to controls using end points as Pulse Wave Velocity, Augmentation Index and Central Pulse Pressure.

Detailed Description
-----------------
Turner syndrome is a congenital complete or partial lack 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, congenital heart defects, hypertension, stroke, ovarian failure, infertility, decreased final height and autoimmune diseases in general Our study aim is: Using MRI to further characterize and find risk factors leading to aortic dilation. Using MRI to describe aortic dimensions Using MRI to assess the degree of aortic distensibility. Using Computed tomography x-ray scanning of the heart and coronary arteries to characterize the prevalence and degree of ischemic heart disease and coronary anomalies. Using pressure sensitive ultrasound (applanation tonometry) to assess the degree of aortic stiffness when compared to controls using end points as Pulse Wave Velocity, Augmentation Index and Central Pulse Pressure.

Official Title
-----------------
Prospective Characterization of the Heart, Aorta and Blood Pressure in Women With Turner Syndrome. Association With Aortic Dissection.

Conditions
-----------------
Turner Syndrome, Aortic Aneurysm, Ischemic Heart Disease, Hypertension, Congenital Heart Defect

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria with respect to individuals acting as controls: Healthy age matched females Exclusion Criteria: Contraindications for MRI Contraindications for CT Severe obesity Acute og Chronic disease with known or presumed significance with concern to outcomes of the study Previous or present malignant disease Clinically significant liver disease Mechanic or biological heart valves

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 90 Years

Sexes Eligible for Study
-----------------
Female

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Turner syndrome<br>Females with Turner syndrome | |
| Control group<br>age matched females acting as controls | |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Aortic dimensions | Aortic dimensions measured by MRI | Once | 
| Agatston score | Coronary CT evaluation of Agatston score | Once | 
| Segment involvement score | Segment involvement score (SIS) calculated as the sum of segments with one or more coronary plaques (score 0-18). | Once | 
| Aortic distensibility | Aortic distensibillity as measured by MRI | Once | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 24 hour blood pressure | 24 hour blood pressure | 24 hour | 
| Pulse Wave Velocity | Pulse Wave Velocity measured by applanation tonometry. | Once | 
| Augmentation index | Augmentation index measured by applanation tonometry. | Once | 
| Central blood pressure | Central blood pressure measured by applanation tonometry. | Once | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Turner Syndrome, Aortic Aneurysm, Ischemic heart disease, Hypertension, Congenital Heart Defect, Pulse Wave Velocity, Augmentation Index, Central Blood Pressure, Agatston Score, Segment involvement score