Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.

ABSTRACT: Over the last quarter-century, there has been tremendous progress in genetics research that has defined molecular causes for cardiomyopathies. More than a thousand mutations have been identified in many genes with varying ontologies, therein indicating the diverse molecules and pathways that cause hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies. Translation of this research to the clinic via genetic testing can precisely group affected patients according to molecular etiology, and identify individuals without evidence of disease who are at high risk for developing cardiomyopathy. These advances provide insights into the earliest manifestations of cardiomyopathy and help to define the molecular pathophysiological basis for cardiac remodeling. Although these efforts r

SUBMITTER: Burke MA 

PROVIDER: S-EPMC5843375 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature