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Hereditary dilated cardiomyopathy
1Department of Medicine, University of California, San Diego, La Jolla 92093.
Insights
Dilated cardiomyopathy (DCM) has a heritable cause in 20-30% of cases, often unexplained. Identifying the genes responsible for hereditary dilated cardiomyopathy (HDCM) is crucial for diagnosis, counseling, and treatment.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Dilated cardiomyopathy (DCM) is a significant cause of heart disease and death.
- While often idiopathic, recent research indicates a genetic basis for 20-30% of DCM cases.
- Hereditary forms of DCM (HDCM) can present with varied inheritance patterns and ventricular involvement.
Purpose of the Study:
- To highlight the prevalence and significance of hereditary dilated cardiomyopathy (HDCM).
- To emphasize the need for genetic identification of causative genes in HDCM.
- To underscore the importance of family screening for DCM.
Main Methods:
- Review of current literature on DCM etiology and genetics.
- Analysis of inheritance patterns including autosomal dominant, recessive, X-linked, and mitochondrial.
- Discussion of diagnostic tools like family pedigree analysis and echocardiography.
Main Results:
- A substantial portion of idiopathic DCM cases are hereditary.
- Diverse inheritance modes exist for HDCM, with autosomal dominant being most common.
- Specific causative genes for primary HDCM remain largely undiscovered.
Conclusions:
- Identifying HDCM genes will improve diagnostics, genetic counseling, and therapeutic strategies.
- Comprehensive family screening is essential due to the heritable nature of DCM.
- Further research into HDCM pathogenesis is warranted for improved patient outcomes.
Abstract:
Dilated cardiomyopathy (DCM) is a common and important cause of morbidity and mortality. Many factors can contribute to the development of this disorder, although most commonly the etiology is unexplained. However, recent studies in individuals with idiopathic DCM now reveal a heritable cause in 20-30% of individuals. Diverse modes of inheritance have been demonstrated, encompassing an autosomal dominant type (by far the most common), together with recessive and X-linked forms, and maternal inheritance through mitochondrial DNA. The hereditary forms of DCM (HDCM) predominantly affect the left ventricle, although inherited abnormalities affecting primarily the right ventricle also are described. HDCM may occur as a primary cardiomyopathy, or secondary to inherited systemic metabolic or neuromuscular disorders. The causative genes for primary HDCM of the autosomal dominant and recessive types have not yet been discovered, but the combination of family pedigree analysis and phenotyping by echocardiography, together with new genetic techniques, should now allow their identification. Knowledge of the gene or genes responsible for HDCM would improve diagnostic accuracy, facilitate genetic counseling, advance understanding of pathogenesis, and provide the starting point for new methods of treatment. Because of the frequently heritable nature of DCM, it is of great importance that a diligent search for all potentially affected family members be undertaken.