UTHealth Turner Syndrome Research Registry
UTHealth Turner Syndrome Research Registry
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
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.
Inclusion Criteria:

 -  Diagnosis of Turner Syndrome

 Exclusion Criteria:

 -  Diagnosis excluding Turner Syndrome