Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
| Status: | Recruiting |
|---|---|
| Conditions: | Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 3/3/2019 |
| Start Date: | July 2009 |
| End Date: | June 2022 |
| Contact: | Lindsey R. Elmore, BA, BS |
| Email: | lhelvaty@iupui.edu |
| Phone: | 317-278-3020 |
The goal of this study is to obtain specimens and data from individuals and their families
with heterotaxy and related congenital heart defects in order to clarify the molecular
genetics of this disorder. The knowledge gained from the analysis of this information will
provide the basis for future genetic counseling as well as contribute to knowledge about the
biology of normal and abnormal development of left-right anatomic asymmetry.
with heterotaxy and related congenital heart defects in order to clarify the molecular
genetics of this disorder. The knowledge gained from the analysis of this information will
provide the basis for future genetic counseling as well as contribute to knowledge about the
biology of normal and abnormal development of left-right anatomic asymmetry.
Heterotaxy syndrome is a rare birth defect that involves the heart and other organs. Many
cases are genetic. Fundamental lack of information about the genetic basis of heterotaxy and
related congenital heart defects in the vast majority of children has hindered management and
therapy. The study outlined in this protocol is designed to obtain information about the
causes of heterotaxy and related congenital heart defects. In this study, investigators will
perform genetic analyses on patients with heterotaxy and related congenital heart defects, or
individuals at risk for these abnormalities. The investigators will collect medical
information related to symptoms and disease course. These results will provide important
information on the causes, management, and prognosis of heterotaxy and related congenital
heart defects.
cases are genetic. Fundamental lack of information about the genetic basis of heterotaxy and
related congenital heart defects in the vast majority of children has hindered management and
therapy. The study outlined in this protocol is designed to obtain information about the
causes of heterotaxy and related congenital heart defects. In this study, investigators will
perform genetic analyses on patients with heterotaxy and related congenital heart defects, or
individuals at risk for these abnormalities. The investigators will collect medical
information related to symptoms and disease course. These results will provide important
information on the causes, management, and prognosis of heterotaxy and related congenital
heart defects.
Inclusion Criteria:
- Subjects with heterotaxy and related congenital heart defects
- Family members of subjects with heterotaxy and related congenital heart defects
Exclusion Criteria:
- Subjects without heterotaxy and related congenital heart defects
- Family members of subjects without heterotaxy and related congenital heart defects
We found this trial at
1
site
340 W 10th St #6200
Indianapolis, Indiana 46202
Indianapolis, Indiana 46202
(317) 274-3772
Phone: 317-278-3020
Indiana University School of Medicine With more than 2,000 students in 2013, the Indiana University...
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