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Report for Clinical Trial NCT00165984

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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

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.

NCT00165984 Congenital Heart Disease
MeSH:Heart Diseases

Primary Outcomes

Measure: To Evaluate the Incidence of the Pre-proendothelin SNP at Nucleotide 5665

Time: 7 years

Description: Follow-up study designed to determine the impact of genetic factors on survival in single ventricle patients

Measure: Survival

Time: 7 yr mean follow-up

Time Perspective: Prospective


There are 2 SNPs


1 G5665T

Meanwhile, a single base-pair polymorphism in the preproendothelin-1 (pp-ET1) gene (G5665T) has been shown to increase vasomotor reactivity in human mammary arteries. --- G5665T ---

2 G894T

A single base-pair polymorphism (G894T) is associated with an increased risk of vasospastic angina pectoris and with increased vascular responsiveness to phenylephrine in patients on cardiopulmonary bypass. --- G894T ---

HPO Nodes