Clinical Trial: Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Brief 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.

Detailed Summary: 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.
Sponsor: Indiana University

Current Primary Outcome: Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects [ Time Frame: 8 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Indiana University

Dates:
Date Received: April 28, 2015
Date Started: July 2009
Date Completion: June 2019
Last Updated: March 7, 2017
Last Verified: March 2017