Clinical genetic aspects of cardiomyopathies

Abstract

Cardiomyopathies are a major cause of heart disease. Not only the patients, but also their families are severely burdened by these illnesses. In the past decade, studies revealed the heterogeneity of these diseases in terms of clinical presentation, as well as their genetics. Studies done in the last few decades revealed a new concept of complex manifestation of cardiomyopathies with different heterogeneity level, penetration, and inheritance. The incomplete penetrance, genetic heterogeneity, and variable expression in cardiomyopathies paradoxically raise hopes that the development of novel disease modifying therapies may be achievable.

Keywords

• Genetic heterogeneity
• penetrance
• phenocopy
• variable expression