Inherited cardiomyopathies.

Copyright © 2011 Massachusetts Medical Society. I nherited cardiomyopathies are a major cause of heart disease in all age groups, often with an onset in adolescence or early adult life. Not only the patients but also their families can be severely burdened by these illnesses. More than 20 years ago, the first “disease gene” for hypertrophic cardiomyopathy was identified.1,2 This finding led to the concept that hypertrophic cardiomyopathy is a disease of the sarcomere.3 Similar advances in the elucidation of the genetic basis of other forms of cardiomyopathy, as well as in other inherited cardiovascular diseases, soon followed. The identification of disease genes in numerous inherited diseases has raised expectations for new forms of treatment, but experience has shown that such novel therapies rarely follow.4 For some inherited cardiomyopathies, however, there are realistic prospects that molecular insights will soon lead to novel treatments. This review focuses on recent findings regarding the mechanisms underlying cardiomyopathies that will inform clinical practice and guide the search for therapeutic targets.