Genetic basis of cardiomyopathy

The molecular basis of cardiac growth and development is a fundamental question that has intrigued many investigators in cardiovascular research. Adult cardiomyocytes are terminally differentiated and lose their ability to proliferate shortly after birth; however, in response to injury, myocytes have the capacity to synthesize new DNA and exhibit plasticity by a compensatory growth response, as is shown by re-expression of the fetal isoforms of many muscle-specific genes, which is characteristic of the proliferative response. The long-term effects of these compensatory responses may lead to the development and progression of diseases such as hypertrophic cardiomyopathy and dilated cardiomyopathy, because of a single point mutation. This concept has engaged scientists to investigate human models to explore the molecular basis of hypertrophy or dilation of the myocardium.