Project: Research project

Project Details


Dilated cardiomyopathy (DC) is a disease of unknown cause characterized by
dilation and impaired function of one or both ventricles. Although the
prevalence of this condition is low, approximately 37 per 100,00(), the
severity of the disease often leads to cardiac transplantation. Unraveling
the etiology of DC will lead to improved prevention and treatment
strategies. From a previously funded study we have developed a
comprehensive data base for 94 families that have members affected with
DC. These data include extensive electrocardiographic and
echocardiographic measurements, as well as environmental risk factors.
From these data we have estimated that 24% of the index cases with DC were
familial (i.e., at least one other first-degree relative had DC).
Additional analyses support the hypothesis that genetics plays a major
role in the etiology of DC in some of our families. Hence, detailed
statistical genetic analyses are now warranted. In Aim 1, we hypothesize
that index patients with familial DC differ according to a number of
characteristics from index patients without familial disease. Univariate
statistical comparisons will be made between familial and non-familial
index cases. In Aim 2, we hypothesize that a major gene is segregating in
at least some of our families for traits related to DC; segregation
analyses will be used to assess a wide variety of traits. In Aim 3, we
hypothesize that a linear combination of measured traits related to DC
will be useful to discern a single major gene; this will be assessed
through pedigree discriminant segregation analysis. In Aim 4, we
hypothesize that genetic heterogeneity exists. We will use statistical
procedures to classify pedigrees into those segregating for a major gene
and those not segregating. The characteristics of index patients will then
be compared between those index patients classified as from segregating
pedigrees and those classified as from non-segregating pedigrees, in order
to determine if measured characteristics can be useful to discriminate
genetic cases from non-genetic cases. The results from this project could
lead to clinically useful criteria for counseling patients and their
families, a better definition of the genetic etiology of DC, and a guide
to future genetic linkage studies. Out data resource is unique because of
the large number of unselected index patients and their relatives who have
had comprehensive evaluations regardless of their medical history. No
other resource of this extent is available to assess the genetic etiology
of idiopathic dilated cardiomyopathy.
Effective start/end date9/30/949/29/96


  • National Heart, Lung, and Blood Institute
  • National Heart, Lung, and Blood Institute


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