AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)

NCT02250456 | Unknown

• 1 other identifier: 5545
• Study Type: observational
• Target: 125
• Locations: 1 country
• Sites: 6

Brief Summary

Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and ovarian failure with infertility. Other anomalies are inconstant: morphological characteristics of varying intensity, associated malformations, and increased risk of acquired diseases ... The prognosis of patients reaching the Turner Syndrome is linked to cardiovascular complications (congenital heart disease, dilatation of the ascending aorta with risk of dissection or rupture of aneurysm), causing early mortality with reduction of life expectancy of at least 10 years. For these reasons, screening for heart disease and dilatation of the ascending aorta is established and is intended to prevent the complications associated with medical treatment and / or surgery to increase life expectancy and reduce the co-morbidities. On the vascular level, the recommendations other than those relating to the monitoring of the diameter of the ascending aorta include research of renal artery stenosis by doppler ultrasound if the patient is hypertensive and looking for lymphedema. However, other arterial lesions were described in the literature, outside of the aneurysm of the ascending aorta. These peripheral arterial lesions can also be life and / or functional prognosis of the patient. Ascending aorta dilation seems not to be exclusive in Turner syndrome. In addition, specific vascular lesions outside the affected artery are described: hepatic cirrhosis by vascular depletion, lymphedema and varicose veins. The prevalence of venous or lymphatic disease is unknown. A single-center review of 9 cases of patients followed at the University Hospital of Strasbourg showed the presence of vascular lesions discovered incidentally during assessments performed for reasons other than cardiovascular screening: cystic lymphangioma, internal carotid aneurysm, agenesis of the inferior vena cava, early varicose veins, embryonic cerebral artery, etc ... None of these patients showed any dilatation of the ascending aorta or heart disease. Peripheral vascular abnormalities in this patient group are exclusive. In this study, we seek to demonstrate that arterial disease in Turner syndrome involve the entire arterial territory and is not confined to the ascending aorta. Screening for arterial lesions should be performed on the entire arterial vascular tree and regularly in the course of time, especially as the presence of cardiovascular risk factors increases with the age of these patients. The venous and lymphatic vascular damage in the literature and in our series of cases in University Hospital of Strasbourg description should also lead to the detection of these lesions. These vascular complications can be alone responsible for the reduction in life expectancy or responsible for serious morbidity. Improved screening of associated vascular lesions is necessary to enable the best prevention of cardiovascular complications. It is also to establish the prevalence of vascular anomalies, whether arterial, venous or lymphatic, to better understand the disease and its management. By collecting systematically karyotype leading to diagnosis, it may be possible to make a link between the genetic defect and heart or vascular disease.

Conditions

Turner Syndrome; Peripheral Angiopathy; Vascular Malformation; Lymphedema

Outcome Measures

Primary Outcomes (1)

• Collection of clinical events and systematized vascular ultrasound explorations

  Reports of annual clinical events and results of complementary cardiovascular investigations. Systematized arterial and venous ultrasound explorations once a year. Reports karyotype used to put the diagnosis of turner Syndrome to perform correlations karyotype - phenotype and karyotype - event. Annual standardized biological exploration.

  Annual evaluation with a 5 years follow-up

Study Arms (1)

Turner syndrome patients and vascular abnormalities

Procedure: Echo doppler

Interventions

Echo doppler PROCEDURE

vascular ultrasound explorations

Turner syndrome patients and vascular abnormalities

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patient with Turner Syndrome.

You may qualify if:

• Any woman over 18 years with Turner Syndrome confirmed by karyotype
• Affiliated to a social security scheme
• Having signed an informed consent
• Having been informed of the results of the medical examination prior

You may not qualify if:

• Inability to give informed patient information related to comprehension difficulties
• Topic featuring against-indications for MRI examination:
• pacemaker or automatic defibrillator, implanted pump
• auditory nerve stimulator, anal nerve stimulator, etc ...
• the ferromagnetic objects in the soft tissues, intraocular metallic objects, cerebral vascular clips
• claustrophobia
• morphotype not allowing access to MRI
• Patient under judicial protection, guardianship or trusteeship

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (6)

Service de Chirurgie et Médecine Vasculaire, CHU Jean Minjoz

Besançon, 25030, France

Location

Service d'Angiologie, CHU Bocage

Dijon, 21079, France

Location

Service de gynécologie, Centre Médico Chirurgical Obstétrical, Hôpitaux Universitaires

Schiltigheim, 67303, France

Location

Service d'endocrinologie, Hôpital Civil, Hôpitaux Universitaires

Strasbourg, 67091, France

Location

Service d'explorations fonctionnelles non invasives cardio-vasculaires, Nouvel Hôpital Civil, Hôpitaux Universitaires

Strasbourg, 67091, France

Location

Service HTA, maladies vasculaires et pharmacologie clinique, Nouvel Hôpital Civil, Hôpitaux Universitaires

Strasbourg, 67091, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood

MeSH Terms

Conditions

Turner Syndrome; Peripheral Vascular Diseases; Vascular Malformations; Lymphedema

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; Heart Defects, Congenital; 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; Vascular Diseases; Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Sébastien GAERTNER, MD

  Hôpitaux Universitaires de Strasbourg

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: September 23, 2014
• First Posted: September 26, 2014
• Study Start: July 1, 2013
• Primary Completion: July 1, 2024
• Study Completion: July 1, 2024
• Last Updated: June 30, 2022

Record last verified: 2022-06

Locations

FR (6)