Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Indiana University
Summary
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.
Description
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. Th…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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
Location
- Indiana University School of MedicineIndianapolis, Indiana