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Home > "F" Clinical Trials Conditions > Family Studies of Hypertrophic/Dilated Cardiomyopathy  Family Studies of Hypertrophic/Dilated Cardiomyopathy
Family Studies of Hypertrophic/Dilated Cardiomyopathy
For Condition: Congestive Cardiomyopathy,Hypertrophic Cardiomyopathy
Status: Recruiting
Sponsor(s): National Heart, Lung, and Blood Institute (NHLBI) ,
Synopsis: This study will examine blood cells of patients (and their relatives) with hypertrophic cardiomyopathy or dilated cardiomyopathy for genes that may cause or modify the disease. Cardiomyopathy causes thickening or stretching of the heart muscle that can cause chest pain, shortness of breath, palpitations, and fainting. Cardiomyopathy sometimes runs in families and is caused by an abnormal gene or genes. Patients diagnosed with hypertrophic cardiomyopathy or dilated cardiomyopathy, or both, may enroll in this study. Relatives of patients will also be studied. Participants will have a review of their medical history and a brief physical examination, including and electrocardiogram (EKG) and echocardiogram-an ultrasound test of the heart. A small blood sample will be obtained for DNA (genetic) study.
Details: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden death in apparently healthy young individuals but its clinical manifestations are highly variable both within and between families. Linkage analysis and/or a candidate gene approach has been used to localize 10 genes, which when mutated, can cause HCM. Recently, mutations in disease genes for HCM have been shown to cause dilated cardiomyopathies. Thus, biased screening studies with HCM genes against patients with either hypertrophic or dilated cardiomyopathies are warranted. Clinical observations as well as experiments in our laboratory have demonstrated the contribution of modifier genes to the severity of any one individual's disease. Both biophysical and genomics studies in our laboratory are yielding a list of candidate modifier genes. The purpose of this protocol is to determine allele frequency of existing and newly identified genes for which there is mechanical, genomic or conceptual evidence that these genes modify or cause cardiac hypertrophy/dilation. Evidence for the effect of any one allele is established through a combination of association, linkage and/or mechanical analysis studies. The latter studies involve analysis of normal and transgenic animal skeletal/cardiac tissue from animals produced under the oversight of the Animal Use Committee.
Eligibility:
Study Type: Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION AND EXCLUSION CRITERIA: Individuals enrolled into this protocol have been referred on the basis of a diagnosis of Hypertrophic cardiomyopathy and/or dilated cardiomyopathy, or have relatives carrying such a diagnosis. There is no age, gender, or racial criteria applied to inclusion or exclusion.
Total Enrollment: 1000
Location and Contact Information:
National Heart, Lung and Blood Institute (NHLBI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 020283; 02-H-0283
Study Start Date: August 21, 2002
Record last reviewed: October 23, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00045825
Other Hypertrophic Cardiomyopathy Studies:
1. Family Studies of Hypertrophic/Dilated Cardiomyopathy
Related Studies:
Other Hypertrophic Cardiomyopathy Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Family Studies of Hypertrophic/Dilated Cardiomyopathy
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