Systolic and diastolic functional parameters in Morbus Fabry patients with cardiomyopathy

Abstract

BACKGROUND We compared diastolic and systolic echocardiographic parameters and ECG changes in hemizygous Morbus Fabry (MF) males (n=41) and heterozygous MF females (n=77) and in MF patients with versus without cardiomyopathy(CM) or diastolic dysfunction(DD). RESULTS There were no significant changes in gender when considering systolic echocardiographic parameters, however patients with diastolic dysfunction had a decreased long axis shortening (LAX) (p<0.015) compared to patients without diastolic dysfunction. Similarly patients with CM presented with decreased LAX (p<0.003 ) and as a possible compensatory mechanism increased fractional shortening (FS) (p<0.020 )and ejection fraction (EF) (p<0.036) compared to patients without CM. The diastolic echocardiographic parameters showed no substantial difference in gender. In patients with DD an increased A-wave Vmax (p<0.017), a tendency for smaller E/A ratio (p<0.074) and no significant change in the E-wave Vmax was established compared to patients without DD. In patients with CM the values for A-wave Vmax and IVRT were increased (p<0.0001) and the E/A-Ratio was decreased compared to patients without CM. The left atrial volume was more than twice as large in patients with diastolic dysfunction compared to patients with normal diastolic function and nearly twice as large in patients with cardiomyopathy compared to patients without CM. The ECG Index showed no correlation to patients with or without CM nor to patients with or without DD. Nevertheless, this may also be due to the small patient collective or definition of DD in this study, as with increasing age, MVWT, RWT, A-wave Vmax and IVRT, the ECG-Index tends to decrease. And as the E-wave Vmax and the E/A ratio decreased, the ECG-Index decreased. CONCLUSIONS These are indicators that there may be a connection between diastolic dysfunction and the ECG-Index, this however needs to be examined in a larger collective of patients.