Clinical Domain Working Groups

The dilated cardiomyopathy (DCM) Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause dilated cardiomyopathy. Dilated cardiomyopathy is defined as left ventricular enlargement (LVE) accompanied by systolic dysfunction with other usually detectable clinical causes excluded. Systolic dysfunction is most commonly measured by a reduced left ventricular ejection fraction (LVEF). Echocardiography is the most commonly used method to estimate a LVEF, and a LVEF <50% would be considered systolic dysfunction. While DCM can commonly involve both ventricles (biventricular dysfunction), the left ventricular involvement is necessary to be included into the DCM definition. Thinning of ventricular myocardium commonly occurs with LVE. In contrast, in hypertrophic cardiomyopathy (HCM), LV wall thickness is greatly increased, and systolic function is preserved or supranormal. Also in contrast, arrhythmogenic right ventricular (RV) cardiomyopathy classically has a very prominent arrhythmic phenotype along with RV involvement, commonly exceeding that of LV involvement. Additional material that provides more detail, and that may be helpful for genetics professionals who are not expert in clinical cardiology is available here: https://www.ncbi.nlm.nih.gov/pubmed/20864896 .

The DCM gene list includes 116 genes. The list was generated with input from a medical librarian (thorough literature search), OMIM, commercial lab offerings and expert judgement.