Genetics of cardiomyopathies in clinical practice

Abstract:

Genetic testing is essential for understanding the etiology of hereditary cardiomyopathies, and is a basis for further clinical and genetic family screening. In clinical practice, gene mutations are identified by either gene panels consisting of most frequent genes associated with cardiomyopathies, or, sometimes, by the whole genome sequencing. Variable gene expression and penetration, as well as association of multiple phenotypes with the same genotype is typical for cardiomyopathies. Some gene mutations portend a more severe disease course or poorer patient outcomes, while other gene mutations may allow for targeted patients therapies.

Key words:
cardiomyopathy; familial screening; genetic testing; genotype; phenotype