Molecular Genetics Of Heterotaxy And Related Congenital Heart Defects

Investigating Genetic Causes of Heterotaxy and Congenital Heart Defects

S
Stephanie Ware, MD

Primary Investigator

Recruiting
100 years or below
All
Phase N/A
2 Locations

Brief description of study

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, we will perform genetic analyses on patients with heterotaxy and related congenital heart defects, or individuals at risk for these abnormalities. We 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. This study is intended to establish an ongoing registry and repository of samples. Patients will also be asked to provide information related to health problems of their family members which will be documented by study staff in a pedigree.
 
Potential subjects will be identified through the electronic medical record (EMR) by study staff. Study staff may also be notified by clinical staff of newly admitted/eligible patients via phone, email, in-person conversations, or through the EMR system.

Detailed description of study

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.  Study involves collection of blood samples from adults and children. Clinical information will be collected from enrolled subjects and entered into a database will include data related to cardiac function, phenotype, management, extra-cardiac disease, and pedigree information. All medical data and information will be obtained only after the family provides written or verbal permission for its acquisition and use. This data will be used for genotype/phenotype correlations if a causative or presumptive gene mutation is found. Cheek swabs (cytobrush) or saliva samples may be collected from subjects and family members in lieu of blood samples.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Heterotaxy syndrome, Congenital heart defect, Riley
  • Age: 100 years or below
  • Gender: All

Inclusion Criteria
•    Subjects with heterotaxy or related congenital heart defects

•    Family members of subjects with heterotaxy or related congenital heart defects

This study investigates the genetic causes of heterotaxy syndrome and related congenital heart defects. Heterotaxy syndrome is a rare birth defect affecting the heart and other organs, often with a genetic basis. The purpose of this study is to understand the genetic factors contributing to these conditions by analyzing genetic information from patients and their families.

Participants will provide blood, cheek swab, or saliva samples. Medical information about symptoms and disease progression will be collected. This information will help in understanding the relationship between genetic mutations and the physical characteristics of these conditions. The study will also establish a registry and repository of samples for ongoing research.

  • Who can participate: Individuals with heterotaxy or related congenital heart defects and their family members can participate.
  • Study details: Participants will provide samples such as blood, cheek swabs, or saliva. Medical data will be collected with permission and used for research on genetic links to the conditions.
Updated on 11 Dec 2025. Study ID: PEDS-IIR-WARE-HTX, 1403871897

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