Phenotyping heart failure by genetics and associated conditions.

Abstract

Heart failure is a highly heterogeneous disease, and genetic testing may allow phenotypic distinctions that are incremental to those obtainable from imaging. Advances in genetic testing have allowed for the identification of deleterious variants in patients with specific heart failure phenotypes (dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and hypertrophic cardiomyopathy), and many of these have specific treatment implications. The diagnostic yield of genetic testing in heart failure is modest, and many rare variants are associated with incomplete penetrance and variable expressivity. Environmental factors and co-morbidities have a large role in the heterogeneity of the heart failure phenotype. Future endeavours should concentrate on the cumulative impact of genetic polymorphisms in the development of heart failure.