The role of Doppler left ventricular filling indexes and Doppler tissue echocardiography in the assessment of cardiac involvement in hereditary hemochromatosis.

Although cardiac dysfunction in hereditary hemochromatosis (HHC) can be evaluated by conventional echocardiography, findings are often not specific. To test the hypothesis that the assessment of (1) conventional Doppler left ventricular filling indexes and (2) intrinsic elastic properties of the myocardium by Doppler tissue echocardiography can both enhance the accuracy of echocardiographic diagnosis of cardiac involvement in HHC, a group of 18 patients with HHC (mean age 50 +/- 17 years) and 22 age-matched healthy subjects were studied. The following indexes were characteristic for HHC: (1) the duration of atrial reversal measured from pulmonary venous flow (ms) was longer (118 +/- 20 vs 90 +/- 16; P <.001); (2) systolic lateral mitral, early-diastolic medial mitral, and early-diastolic lateral tricuspid annular velocities were reduced by 23%, 31%, and 13%, respectively; (3) late-diastolic mean myocardial velocity and myocardial velocity gradient (MVG) were also reduced by 22% and 34%, respectively. Late-isovolumic relaxation (late-IVR) MVG (s(-1)) was positive in HHC as opposed to negative in healthy subjects (1.72 +/- 0.85 vs -0.89 +/- 1.15; P <.001) indicating impaired early-diastolic subepicardial relaxation in HHC. The assessment of atrial reversal flow duration, the difference in duration between A-wave and atrial reversal flow, and the presence of positive late IVR-MVG findings were the most accurate variables to differentiate patients with HHC from healthy subjects (80%, 67%, 94% sensitivity and 90%, 95%, 86% specificity, respectively).