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[Molecular basis of heart failure and dilated cardiomyopathy]
Karl Josef Osterziel1, Andreas Perrot
1Universitätsklinikum Charité, Kardiologie am Campus Virchow-Klinkum und Campus Buch, Berlin. osterziel@fvk-berlin.de
Insights
Dilated cardiomyopathy (DCM) is a genetic heart condition affecting 25-30% of patients. Research into DCM disease genes offers potential for new diagnostic and therapeutic strategies.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is a primary cause of heart failure.
- Approximately 25-30% of DCM cases have a familial origin.
- Autosomal dominant inheritance is most common, followed by X-chromosomal inheritance.
Purpose of the Study:
- To review current knowledge of familial dilated cardiomyopathy.
- To discuss identified DCM disease genes and their implications.
- To explore the hypothesis of DCM as a disorder of myocardial force generation/transmission.
Main Methods:
- Review of prospective studies on familial DCM.
- Analysis of identified DCM-associated genes.
- Discussion of mutation penetrance and age-dependency.
Main Results:
- Nine DCM disease genes have been identified to date.
- Mutation penetrance is variable and age-dependent.
- Relatives may exhibit minor cardiac abnormalities with unknown progression.
Conclusions:
- Understanding DCM disease genes advances the hypothesis of force generation/transmission defects.
- Further research into gene expression and function may yield novel diagnostic and therapeutic approaches for DCM.
Abstract:
Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure. Several prospective studies have shown that about 25-30% of all cases are of familial etiology. The most common mode of inheritance is autosomal dominant. Less frequently is inheritance as an X-chromosomal trait. Examination of families has identified nine disease genes so far. The penetrance of the identified mutations is highly variable and age-dependent. Many relatives of patients with DCM show only minor cardiac abnormalities, and it is unknown whether they progress to full cardiomyopathy in later life. Knowledge of the DCM disease genes led to the new hypothesis that DCM is a disease of myocardial generation or transmission of force. Better understanding of the expression and function of disease genes may lead to new diagnostic and therapeutic tools.