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

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

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.

Study Overview

• Status: Unknown
• Conditions: Hypertension; Ischemic Heart Disease; Aortic Aneurysm; Turner Syndrome; Congenital Heart Defect

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.

• Study Type: Observational
• Enrollment (Actual): 106

Contacts and Locations

Study Locations

• Denmark
  • Aarhus, Denmark, 8000
    • Department of Endocrinology and Internal Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 90 years (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Females with Turner Syndrome previously participating in our study number 2001024 are recruited from out-patient clinics.

Controls are healthy volunteers recruited from the general population by advertisement.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Turner syndrome; Females with Turner syndrome
Control group; 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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
echocardiography	echocardiography evaluating Mitral and aortic valves, left ventricular hypertrophy, diastolic and systolic function etc..	Once

Collaborators and Investigators

• Sponsor: University of Aarhus
• Investigators: Study Chair: Claus H Gravholt, MD, Aarhus University Hospital

Publications and helpful links

General Publications

• Viuff MH, Just J, Brun S, Dam TV, Hansen M, Melgaard L, Hougaard DM, Lappe M, Gravholt CH. Women With Turner Syndrome Are Both Estrogen and Androgen Deficient: The Impact of Hormone Replacement Therapy. J Clin Endocrinol Metab. 2022 Jun 16;107(7):1983-1993. doi: 10.1210/clinem/dgac167.
• Wen J, Trolle C, Viuff MH, Ringgaard S, Laugesen E, Gutmark EJ, Subramaniam DR, Backeljauw P, Gutmark-Little I, Andersen NH, Mortensen KH, Gravholt CH. Impaired aortic distensibility and elevated central blood pressure in Turner Syndrome: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2018 Dec 13;20(1):80. doi: 10.1186/s12968-018-0497-0.
• Subramaniam DR, Stoddard WA, Mortensen KH, Ringgaard S, Trolle C, Gravholt CH, Gutmark EJ, Mylavarapu G, Backeljauw PF, Gutmark-Little I. Continuous measurement of aortic dimensions in Turner syndrome: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2017 Feb 24;19(1):20. doi: 10.1186/s12968-017-0336-8.

Study record dates

Study Major Dates

• Study Start: December 1, 2013
• Primary Completion (ACTUAL): March 1, 2016
• Study Completion (ANTICIPATED): October 1, 2016

Study Registration Dates

• First Submitted: August 30, 2012
• First Submitted That Met QC Criteria: August 30, 2012
• First Posted (ESTIMATE): September 3, 2012

Study Record Updates

• Last Update Posted (ESTIMATE): May 24, 2016
• Last Update Submitted That Met QC Criteria: May 23, 2016
• Last Verified: June 1, 2015

More Information

Terms related to this study

• Keywords: Hypertension; Pulse Wave Velocity; Augmentation Index; Turner Syndrome; Aortic Aneurysm; Ischemic heart disease; Congenital Heart Defect; Central Blood Pressure; Agatston Score; Segment involvement score
• Additional Relevant MeSH Terms: Pathologic Processes; Cardiovascular Diseases; Vascular Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Endocrine System Diseases; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Coronary Disease; Cardiovascular Abnormalities; Chromosome Disorders; Sex Chromosome Disorders; Aortic Diseases; Sex Chromosome Disorders of Sex Development; Heart Diseases; Coronary Artery Disease; Myocardial Ischemia; Hypertension; Syndrome; Heart Defects, Congenital; Aneurysm; Aneurysm, Dissecting; Aortic Aneurysm; Turner Syndrome; Gonadal Dysgenesis
• Other Study ID Numbers: 35202