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Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00165984
Recruitment Status : Completed
First Posted : September 14, 2005
Results First Posted : May 2, 2012
Last Update Posted : May 2, 2012
Children's Healthcare of Atlanta
Information provided by (Responsible Party):
Paul M. Kirshbom, MD, Emory University

Brief Summary:
There are many kids born with congenital heart disease. Some of these defects may lead to the formation of a single ventricle (the heart having only one pumping chamber). These children normally undergo a series of corrective surgeries to help overcome the problems of having just one ventricle. However there are some differences in how well the patients respond to the surgeries. In the adult population, studies have shown that there may be a genetic link that may be responsible for the differences in how patients respond. The investigators would like to study the pediatric population by looking for certain genetic markers in the patients' blood. They will also collect basic health information on each patient.

Condition or disease
Congenital Heart Disease

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Study Type : Observational
Actual Enrollment : 224 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy
Study Start Date : January 2004
Actual Primary Completion Date : August 2010
Actual Study Completion Date : August 2010

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. To Evaluate the Incidence of the Pre-proendothelin SNP at Nucleotide 5665 [ Time Frame: 7 years ]
  2. Survival [ Time Frame: 7 yr mean follow-up ]
    Follow-up study designed to determine the impact of genetic factors on survival in single ventricle patients

Biospecimen Retention:   Samples With DNA
Whole blood and serum.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All pediatric single ventricle patients or pediatric patients previously transplanted for single ventricle, who undergo an invasive procedure (surgery or catheterization) will be a candidate for enrollment in the study.

Inclusion Criteria:

  • Children who currently have functional single ventricle anatomy or have had heart transplantation for single ventricle anatomy who receive their cardiac care at Children's Healthcare of Atlanta, Egleston Hospital.
  • Family agrees to participate in the study following informed consent

Exclusion Criteria:

  • Conversion to two ventricle physiology, excluding transplantation.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00165984

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United States, Georgia
Children's Healthcare of Atlanta at Egleston
Atlanta, Georgia, United States, 30322
Sponsors and Collaborators
Emory University
Children's Healthcare of Atlanta
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Principal Investigator: Paul M Kirshbom, MD Emory University
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Responsible Party: Paul M. Kirshbom, MD, Associate professor of surgery, Emory University Identifier: NCT00165984    
Other Study ID Numbers: 599-2004
First Posted: September 14, 2005    Key Record Dates
Results First Posted: May 2, 2012
Last Update Posted: May 2, 2012
Last Verified: April 2012
Keywords provided by Paul M. Kirshbom, MD, Emory University:
hypoplastic heart ventricle
Additional relevant MeSH terms:
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Heart Diseases
Cardiovascular Diseases