Genetics of Cardiovascular and Neuromuscular Disease
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.
Observational Model: Family-Based
Blood draw (genetic testing)
University of Chicago
University of Chicago
Results (where available)
- Source: http://clinicaltrials.gov/show/NCT00138931
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
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).
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.
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.
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.
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...
To identify new dilated cardiomyopathy genes by genetic linkage and mutational analyses.
To map the genetic defect responsible for familial hypertrophic cardiomyopathy.
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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...
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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...