UTHealth Turner Syndrome Research Registry

Study Overview
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Brief Summary
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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

Detailed Description
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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.

Official Title
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UTHealth Turner Syndrome Research Registry

Conditions
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Turner Syndrome

Intervention / Treatment
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* Genetic: Research genetic tests


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of Turner Syndrome Exclusion Criteria: Diagnosis excluding Turner Syndrome
Sexes Eligible for Study
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Female

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with Turner Syndrome<br>Chromosomal diagnosis and typical features | Genetic: Research genetic tests<br>* DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells<br>|
| Unaffected controls<br>Normal females and unaffected family members | Genetic: Research genetic tests<br>* DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Bicuspid aortic valve and thoracic aortic aneurysm | Imaging data | 10 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Health-related quality of life | Access to care and guideline-recommended care | 10 years |