About this trial
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
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Diagnosis of Turner Syndrome
Disqualifiers
Diagnosis excluding Turner Syndrome
Trial population
The study population consists of females diagnosed with Turner Syndrome. This diagnosis can be based on physical symptoms (e.g. short stature, developmental delay, pubertal delay, etc.) or karyotype (e.g. 45X/46XX mosaic, 45X, etc.).
Trial design
Cohort
Prospective
Treatments tested in this trial
Research genetic tests
GeneticDNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells
Treatment groups
Trial outcomes
Primary outcomes
Bicuspid aortic valve and thoracic aortic aneurysm
Imaging data
Secondary outcomes
Health-related quality of life
Access to care and guideline-recommended care
Sponsors and contacts
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The University of Texas Health Science Center, Houston
Lead sponsor
American Heart Association
Collaborator