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Mapping Novel Disease Genes for Dilated Cardiomyopathy

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
Mayo Clinic Identifier:
First received: September 30, 2002
Last updated: February 19, 2014
Last verified: February 2014
To identify new dilated cardiomyopathy genes by genetic linkage and mutational analyses.

Cardiomyopathy, Congestive Cardiovascular Diseases Heart Diseases Heart Failure, Congestive

Study Type: Observational

Resource links provided by NLM:

Further study details as provided by Mayo Clinic:

Study Start Date: July 2002
Study Completion Date: June 2006
Primary Completion Date: June 2006 (Final data collection date for primary outcome measure)
Detailed Description:


Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder causing congestive heart failure. Current medical therapy has minimal impact on prognosis and cardiac transplantation is the only definitive treatment for end-stage disease. The molecular and cellular mechanisms underlying DCM are poorly defined, but the importance of single gene defects in disease pathogenesis is becoming increasingly apparent.


The genetic epidemiology study will identify novel dilated cardiomyopathy genes using genetic linkage and mutational analyses. The first aim is to determine the chromosomal location of novel familial dilated cardiomyopathy genes. This will be accomplished by genome-wide genotyping and genetic linkage analyses in three large families with autosomal dominant dilated cardiomyopathy. Previously identified dilated cardiomyopathy genes have been excluded in these families. The second aim is to identify mutations in novel genes that cause familial dilated cardiomyopathy by linkage and sequence analyses of candidate genes mapping to dilated cardiomyopathy loci. Once novel genes for familial dilated cardiomyopathy are identified, the third aim will be to determine the role of these genes in a large cohort of unrelated patients with familial and sporadic dilated cardiomyopathy. High throughput DNA sequence analyses will be performed to identify additional inherited and de novo mutations.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
No eligibility criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00046618

Sponsors and Collaborators
Mayo Clinic
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Timothy Olson Mayo Clinic
  More Information

Publications: Identifier: NCT00046618     History of Changes
Other Study ID Numbers: 1187
R01HL071225 ( U.S. NIH Grant/Contract )
Study First Received: September 30, 2002
Last Updated: February 19, 2014

Additional relevant MeSH terms:
Heart Failure
Cardiovascular Diseases
Heart Diseases
Cardiomyopathy, Dilated
Cardiomegaly processed this record on August 21, 2017