Abstract
A genetic evaluation is recommended for the genetic cardiomyopathies, morphologically defined as hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy, which can all underlie heart failure in children and the young. Left ventricular noncompaction can also present with each of these phenotypes. The genetic heterogeneity observed in these conditions can complicate the goal of distinguishing benign from relevant variants, particularly when dealing with adult-onset disease. Ethical dilemmas may also arise when considering predictive testing in at-risk minors. The benefit of predicting risk in relatives, however, outweighs concerns. A team-based approach consisting of a cardiologist and a clinical genetics professional working closely with a laboratory-based molecular geneticist can maximize the benefit of a genetic evaluation. This chapter provides principles relevant to genetic testing for cardiomyopathy, followed by information specific to genetic testing for cardiomyopathies in children and the young.