Genetic Study of Heterotaxy Syndrome and Related Congenital Heart Defects in Patients and Families

What this Trial Is About

Heterotaxy syndrome is a rare condition involving abnormal arrangement of the heart and other organs, often due to genetic causes. This research aims to better understand the molecular genetics behind heterotaxy and related congenital heart defects by collecting specimens and data from affected individuals and their families. The knowledge gained will help improve genetic counseling and contribute to understanding normal and abnormal development of left-right body asymmetry. Participants include patients with heterotaxy and related congenital heart defects as well as their family members. The study involves genetic analyses and collection of medical information about symptoms and disease progression. There are no treatment interventions, as this is an observational study focused on gathering data to clarify causes and improve management. During the study, participants provide specimens and medical information for analysis. Researchers will use this information to study the genetic causes of these conditions over an 8-year period. The main outcome measured is improved understanding of the molecular genetics of heterotaxy and related defects. The study is conducted by Indiana University and will continue through December 2030.

Molecular Genetics of Heterotaxy and Related Congenital Heart Defects