Genetic testing in the contemporary diagnosis of cardiomyopathy

Abstract

The heritable cardiomyopathies are relatively common conditions that can lead to heart failure and sudden cardiac death. Family history collection, genetic testing and genetic counseling are recommended for these patients and families in multiple practice guidelines and consensus statements. Research discoveries and rapidly dropping costs of DNA sequencing technologies have resulted in the availability of multiple cardiomyopathy genetic testing panels. Genetic testing not only helps in determining the underlying etiology of idiopathic and familial cardiomyopathies, but is also a powerful tool in the determination of which relatives are at-risk and which are not. Both pre- and post-test genetic counseling is an imperative component of genetic testing, as there are many benefits and limitations of genetic testing that need discussed with each patient undergoing this process.