Purpose of review: The purpose of this review is to present our current understanding of the genetic etiologies that may cause or predispose to heart failure. We highlight known phenotypes for which a genetic evaluation has clinical utility.
Recent findings: The literature continues to demonstrate and confirm a genetic basis for conditions that cause heart failure. Evidence suggests a genetic model involving rare and common variants of strong or weak effect, in combination with environmental factors that may manifest as familial or simplex disease. Clinical genetic testing is available for several phenotypes, which can aid in the diagnosis and identification of at-risk family members. The evaluation of heart failure should include investigating etiologies with a genetic basis. Conducting a genetic evaluation in patients with heart failure requires the ability to identify possible genetic etiologies in an individual's phenotype, obtain relevant family history, and clinically interpret genetic testing results.
Keywords: Cardiomyopathy; Coronary artery disease; Genetic counseling; Genetic testing; Genetics; Heart failure.