Genetically inherited heart diseases (familial cardiopathies) are conditions affecting the
heart passed on to family members by abnormalities in genetic information. These conditions
are responsible for many heart related deaths and illnesses.
Researchers are interested in learning more about the specific genetic abnormalities causing
heart diseases. In addition, they would like to find out how these abnormal genes can
contribute to the development of other medical problems.
In order to do this, researchers plan to study patients and family members of patients
diagnosed with genetically inherited heart disease. Those people participating in the study
will undergo a variety of tests including blood tests, echocardiograms, and magnetic
resonance imaging studies (MRI). These tests will be used to help researchers find the
genetic problem causing the familial cardiopathy.
Researchers hope that the information gathered from this study can be used to develop better
medical care through early diagnosis, management, and treatment plans.
Familial cardiomyopathies (FC) are important cardiovascular causes of morbidity and
mortality that demonstrate both allelic and non-allelic genetic heterogeneity. We propose
to perform genetic studies to determine novel molecular causes of FC and to describe their
clinical correlates. This will permit: (1) pre-symptomatic diagnosis; (2) definition of
cardiac phenotype, disease penetrance; (3) natural history; (4) study of abnormal physiology
that is a consequence of the molecular defect; (5) elucidation of specific mechanisms of
arrythmias and sudden death; and (6) demonstration and characterization of skeletal muscle
INCLUSION AND EXCLUSION CRITERIA
The subjects will consist of family members who may have inherited FC and spouses that may
help in the linkage studies. Family members or spouses who do not wish to participate in
the research protocol will be excluded from the study.