Genetics of Cardiovascular and Neuromuscular Disease
Summary
We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy. An equal number of genetic regions have been associated with muscular dystrophy and there is overlap because some of the identical genes, when mutated, produce both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to screen these samples for mutations in genes known to be involved in these disorders.
Study Design
Observational Model: Family-Based
Conditions
Cardiomyopathy
Intervention
Blood draw (genetic testing)
Location
University of Chicago
Chicago
Illinois
United States
60637
Status
Recruiting
Source
University of Chicago
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00138931
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Cardiomyopathies
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
Phlebotomy
The techniques used to draw blood from a vein for diagnostic purposes or for treatment of certain blood disorders such as erythrocytosis, hemochromatosis, polycythemia vera, and porphyria cutanea tarda.
Blood Grouping And Crossmatching
Testing erythrocytes to determine presence or absence of blood-group antigens, testing of serum to determine the presence or absence of antibodies to these antigens, and selecting biocompatible blood by crossmatching samples from the donor against samples from the recipient. Crossmatching is performed prior to transfusion.
Leeching
The application of LEECHES to the body to draw blood for therapeutic purposes. Such medicinal leeching, an ancient medical practice, is still being used in microsurgery and the treatment of venous congestion or occlusion.
Genetic Testing
Detection of or testing for certain ALLELES, mutations, genotypes, or karyotypes that are associated with genetic traits, heritable diseases, or with a predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Clinical Trials
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
The purpose of this trial is to study the genetic and phenotypic aspects of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), and determine the impact of genetic testing...
Mapping Novel Disease Genes for Dilated Cardiomyopathy
To identify new dilated cardiomyopathy genes by genetic linkage and mutational analyses.
Genetic Analysis of Familial Hypertrophic Cardiomyopathy
To map the genetic defect responsible for familial hypertrophic cardiomyopathy.
Peri-partum cardiomyopathy is a heart muscle weakness that occurs during or following pregnancy. Research suggests that many initial heart injuries including viruses, pregnancy and other...
Biomarkers in Aortic Stenosis - B.A.S.S.
This study is being done to determine whether or not new blood test(s) can determine the severity of heart conditions. Aortic stenosis, hypertrophic cardiomyopathy, mitral regurgitation, a...
PubMed Articles
Genetic Testing in the Contemporary Diagnosis of Cardiomyopathy.
The heritable cardiomyopathies are relatively common conditions that can lead to heart failure and sudden cardiac death. Family history collection, genetic testing and genetic counseling are recommend...
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.
A great deal of progress has recently been made in the discovery and understanding of the genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a new diagnosis of idiopa...
Making genetics not so important: Family work in dealing with familial hypertrophic cardiomyopathy.
The literature shows that genetic testing could stimulate solidarity among family members, but also lead to major conflicts. To prevent negative effects, clinical geneticists and ethicists have stress...
Abstract Objective. Recent guidelines on serum testing of prostate-specific antigen (PSA) levels in asymptomatic men emphasize the importance of an informed decision. This study assessed the proportio...
Hypertrophic cardiomyopathy: A clinical and genetic update.
This article presents an overview of hypertrophic cardiomyopathy (HCM) and the associated clinical findings, treatment, and management for nurse practitioners. Topics include an overview of the condit...
