title: 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 remain incomplete, new genomic technologies and analytic strategies provide unparalleled opportunities to fully explore the genetic architecture of cardiomyopathies. Such data hold the promise that mutation-specific pathophysiology will uncover novel therapeutic targets, and herald the beginning of precision therapy for cardiomyopathy patients.
authors.affiliation: Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia; Department of Genetics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Burke
authors.affiliation: National Heart & Lung Institute, Imperial College London, London, United Kingdom; National Heart Centre Singapore, Singapore; Duke-National University of Singapore, Singapore.
authors.forename: Stuart A
authors.initials: SA
authors.lastname: Cook
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts.
authors.forename: Jonathan G
authors.initials: JG
authors.lastname: Seidman
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland. Electronic address: cseidman@genetics.med.harvard.edu.
authors.forename: Christine E
authors.initials: CE
authors.lastname: Seidman
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005820:Genetic Testing / Q000379:methods*; D023281:Genomics / Q000379:methods*; D006801:Humans; D010641:Phenotype
keywords: dilated cardiomyopathy; genetic testing; genetics; hypertrophic cardiomyopathy; molecular etiology; restrictive cardiomyopathy