UTHealth Turner Syndrome Research Registry
The University of Texas Health Science Center, Houston
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
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 R…
Eligibility
- Age range
- Not specified
- Sex
- Female
- Healthy volunteers
- Not specified
Inclusion Criteria: * Diagnosis of Turner Syndrome Exclusion Criteria: * Diagnosis excluding Turner Syndrome
Interventions
- GeneticResearch genetic tests
DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells
Location
- University of Texas Health Science Center HoustonHouston, Texas