Family Studies of Inherited Heart Disease

Completed

Conditions studied: Hypertrophic Cardiomyopathy

In brief

Hypertrophic cardiomyopathy (HCM) is a genetically inherited heart disease. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. Hypertrophic cardiomyopathy (HCM) is the most important cause of sudden death in apparently healthy young people. A genetic test called linkage analysis is used to locate genes causing inherited diseases like HCM. Linkage analysis requires large families to be evaluated clinically in order to identify the members with and without the disease. In this study researchers will collect samples of DNA from family members of patients with HCM. The diagnosis of the disease will be made by history and physical examination, electrocardiogram (12 lead ECG), and ultrasound of the heart (2-D echocardiogram). The ability of the researchers to locate the gene responsible for the disease improves with increases in the size of the family and members evaluated. In order to continue research on the genetic causes of heart disease, researchers intend on studying families with specific genetic mutations (beta-MHC) causing HCM. Researcher plan to also study families with HCM not linked to specific gene mutations (beta-MHC).

Key facts

Study ID
NCT00001225
Run by
National Heart, Lung, and Blood Institute (NHLBI)
People needed
5880
Starts
1987-04-01
Expected to finish
2002-08-01
Last updated by the study team
2008-03-04

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

Where it is running

Full record on ClinicalTrials.gov

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