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

NCT01678274 | Unknown

• 1 other identifier: 35202
• Study Type: observational
• Target: 106
• Locations: 1 country
• Sites: 1

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.

Conditions

Turner Syndrome; Aortic Aneurysm; Ischemic Heart Disease; Hypertension; Congenital Heart Defect

Keywords

Turner Syndrome; Aortic Aneurysm; Ischemic heart disease; Hypertension; Congenital Heart Defect; Pulse Wave Velocity; Augmentation Index; Central Blood Pressure; Agatston Score; Segment involvement score

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (4)

• 24 hour blood pressure

  24 hour

• Pulse Wave Velocity

  Once

• Augmentation index

  Once

• Central blood pressure

  Once

Other Outcomes (1)

• echocardiography

  Once

Study Arms (2)

Turner syndrome

Females with Turner syndrome

Control group

age matched females acting as controls

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Healthy age matched females

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Aarhus: lead

Study Sites (1)

Department of Endocrinology and Internal medicine

Aarhus, 8000, Denmark

Location

Related Publications (4)

• Ridder LO, Stochholm K, Mortensen KH, Andersen NH, Gravholt CH. The TGFbeta system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations. Clin Endocrinol (Oxf). 2023 Dec;99(6):545-551. doi: 10.1111/cen.14907. Epub 2023 Mar 15.

  PMID: 36890688 DERIVED

• 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.

  PMID: 35302622 DERIVED

• 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.

  PMID: 30541571 DERIVED

• 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.

  PMID: 28231838 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood Serum

MeSH Terms

Conditions

Turner Syndrome; Aortic Aneurysm; Myocardial Ischemia; Hypertension; Heart Defects, Congenital

Condition Hierarchy (Ancestors)

Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Aneurysm; Vascular Diseases; Aortic Diseases

Study Officials

• Claus H Gravholt, MD

  Aarhus University Hospital

  STUDY CHAIR

• Christian Trolle, MD

  Aarhus University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 30, 2012
• First Posted: September 3, 2012
• Study Start: December 1, 2013
• Primary Completion: March 1, 2016
• Study Completion: October 1, 2016
• Last Updated: May 24, 2016

Record last verified: 2015-06

Locations

DK (1)