UTHealth Turner Syndrome Research Registry
Study Details
Study Description
Brief Summary
The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS.
The investigators will correlate the patterns and prevalence of structural heart defects in TS women with emerging molecular data to identify patients who are at high risk for cardiovascular complications
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Detailed Description
Turner syndrome (TS) is a common chromosomal disorder that affects approximately 1 in 2500 live female births. Complete or partial monosomy of one of the X chromosomes in a female is associated with various congenital heart defects (CHDs), which include aortic dilatation, coarctation of aorta and BAV. Congenital cardiovascular defects related to CHD are the leading cause of death in women with TS. The Turner Syndrome Network Registry (TRN Registry) and genetic sample repository can address gaps in knowledge of CHD in TS by facilitating the recognition of demographic and genetic patterns. TRN Registry-based research can improve surveillance of TS patients who are at risk for CHD and provide valuable insight into genetic components of CHD.
The investigators will recruit TS patients into the TRN Registry and obtain blood and/or saliva samples after informed consent. The genetic diagnosis of TS will be confirmed using chromosomal microarrays. The array data will be also be used to identify genomic copy number variants, and rare variants in protein coding genes will be determined by exome sequencing. The investigators will derive induced pluripotent stem cells from some participants to determine why CHD is so prevalent in TS. CHD risk genes will be identified in comparisons between TS cases with and without congenital heart defects. To facilitate these comparisons, the investigators will abstract the demographic and medical data of registry participants from questionnaires and medical records. Imaging will be used to confirm the diagnosis of CHD and to determine the prevalence and severity of additional cardiovascular defects.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Patients with Turner Syndrome Chromosomal diagnosis and typical features |
Genetic: Research genetic tests
DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells
|
| Unaffected controls Normal females and unaffected family members |
Genetic: Research genetic tests
DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells
|
Outcome Measures
Primary Outcome Measures
- Bicuspid aortic valve and thoracic aortic aneurysm [10 years]
Imaging data
Secondary Outcome Measures
- Health-related quality of life [10 years]
Access to care and guideline-recommended care
Eligibility Criteria
Criteria
Inclusion Criteria:
- Diagnosis of Turner Syndrome
Exclusion Criteria:
- Diagnosis excluding Turner Syndrome
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of Texas Health Science Center Houston | Houston | Texas | United States | 77030 |
Sponsors and Collaborators
- The University of Texas Health Science Center, Houston
- American Heart Association
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- HSC-MS-15-0120