Clinical Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy
Clinical Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy
Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses.
In this study researchers hope to determine the signs and symptoms (clinical correlation) associated with specific genetic abnormalities causing inherited heart diseases.
In order to do this, researchers plan to evaluate patients and family members of patients diagnosed with inherited heart disease. Patients participating in the study will undergo several tests including blood tests, electrocardiograms (EKG), and echocardiograms. Patients may also be asked to undergo an MRI of the heart to provide a clearer picture of it.
Patients participating in this study may not be directly benefited by it. However, information gathered from the study may contribute to the medical care, treatment, and prevention of problems for others in the future.
Familial cardiomyopathy (FC) often demonstrates both non-allelic and allelic genetic heterogeneity. We propose to determine the clinical correlates of specific genetic defects which cause FC by identifying and expanding a set of kindreds with identical and distinct molecular defects.
Individuals with cardiomyopathy referred for evaluation to the NIH.