Clinical Utilization and Function of Tissue Doppler Imaging in Detecting Congenital Cardiomyopathies

Hypertrophic cardiomyopathy (HCM) is caused by sarcomere genes and is the most common monogenic cardiovascular disorder. Left ventricular hypertrophy (LVH) is the classic hallmark sign for diagnosis; however, LVH may not manifest until adolescence or later in individuals who are mutation carriers. Genetic testing can identify individuals who carry pathogenic sarcomere mutations and have a clinical diagnosis of HCM—that is, mutation carriers who have not yet manifested LVH but are very likely to develop the disease. Evaluating this new patient subset with state-of-the-art echocardiography has shown evidence of early signs of left ventricular impairment. Tissue Doppler imaging is able to detect mutation carriers who may have altered diastolic function, by identifying individuals with reduced tissue Doppler velocities. This article reviews the findings of using tissue Doppler imaging in HCM and other forms of cardiomyopathy. Understanding this source of HCM presents an opportunity to predict and better manage disease.