New diagnostic options in hypertrophic cardiomyopathy

The pathophysiologic features and clinical manifestations of HCM have been elucidated by the introduction of several new diagnostic options. Knowledge of the molecular defects of HCM has advanced rapidly, and genetic screening studies have reemphasized the value of the standard electrocardiogram as an initial screening tool. Analysis of heart rate variability, late potentials, and QT dispersion were not found to be reliable prognostic markers in HCM. However, measurement of dispersion of conduction is probably a sensitive technique in identifying a high risk for sudden cardiac death. Significant developments include transthoracic and transesophageal echocardiography and their role in studying the mitral valve, early detection of left ventricular chamber dilatation, analysis of coronary flow, and intraoperative echocardiography. Finally, advances in the application of magnetic resonance imaging and positron-emission tomography are underway.