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Genetic heterogeneity in familial dilated cardiomyopathy
K R Schultz1, R J Gajarski, R Pignatelli
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Insights
Familial dilated cardiomyopathy (FDCM) is a genetic heart condition. This study shows that the pure form of FDCM is caused by multiple genes, indicating significant genetic heterogeneity.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Familial dilated cardiomyopathy (FDCM) is a primary inherited myocardial disease.
- It is a major cause of morbidity, mortality, and cardiac transplantation globally.
- FDCM accounts for 20-30% of all dilated cardiomyopathy cases.
Purpose of the Study:
- To investigate the genetic basis of pure familial dilated cardiomyopathy.
- To determine if previously mapped loci are responsible for FDCM in a new family.
Main Methods:
- Parametric linkage analysis was performed on one family with pure FDCM.
- Linkage analysis was conducted for previously identified loci at 1p1-1q1 and 9q13-q22.
Main Results:
- Linkage to both the 1p1-1q1 and 9q13-q22 regions was excluded in the studied family.
- This exclusion demonstrates genetic heterogeneity in the pure form of FDCM.
Conclusions:
- The pure form of familial dilated cardiomyopathy is genetically heterogeneous, caused by multiple different genes.
- Identification of additional large families is necessary to identify the various genes responsible for FDCM.
Abstract:
Familial dilated cardiomyopathy (FDCM), an inherited primary form of myocardial disease, is a significant cause of morbidity and mortality at all ages and the leading reason for cardiac transplantation worldwide. Although typically inherited as an autosomal dominant disorder, all forms of inheritance have been recognized. FDCM appears to be responsible for approximately 20-30% of all cases of dilated cardiomyopathy, the most common form of cardiomyopathy. Recently, two families having autosomal dominant FDCM were mapped. The first family had conduction abnormalities and FDCM and was mapped to 1p1-1q1, while the second family, which had pure FDCM, was mapped to 9q13-q22. Neither gene has been identified to date. In this report, one family with pure FDCM was analyzed for linkage to the 1p1-1q1 and 9q13-q22 loci using parameteric linkage analysis, with linkage to both regions excluded. This demonstrates that the pure form of FDCM is caused by multiple different genes, i.e., genetic heterogeneity. Identification of large families with FDCM will be required to identify the various genes responsible for this important clinical entity.