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Dilated cardiomyopathy is a disease of the heart muscle. It can cause the heart’s main pumping chamber (left ventricle) to stretch; as a result it can’t pump blood as well as it should. Dilated cardiomyopathy is a leading cause of irregular heartbeat (arrhythmia) and heart failure; however, the condition is largely underdiagnosed and often discovered late in the course of disease, once clinical symptoms are present.

Genetic testing is primarily meant to identify whether an individual carries a disease-causing mutation (a DNA sequence that differs from what is found in most people) that could be common among family members. Family members with this mutation who do not show symptoms of the disease may be at risk of developing dilated cardiomyopathy later in life. Identification of these high-risk family members could allow for heightened medical monitoring and early management if symptoms appear.