Left ventricular rotational abnormalities in hemophilia-insights from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.

BACKGROUND: Hemophilia is an X-linked inherited disorder primarily affecting males, its major types are type A (deficiency in factor VIII) and B (deficiency in factor IX), and is considered to be the most common severe congenital coagulation factor deficiency. The present study was designed to test whether any differences in left ventricular (LV) rotational mechanics could be demonstrated between male patients with hemophilia and healthy controls using three-dimensional speckle-tracking echocardiography (3DSTE)-derived virtual LV models. METHODS: The present study consisted of 17 patients with hemophilia, however, 3 patients were excluded due to insufficient image quality. In the remaining patient population, 12 patients had hemophilia A and 2 patients had hemophilia B (mean age: 42.2±18.9 years, all males). The control group comprised 16 age-matched healthy subjects (46.0±5.9 years, all males). RESULTS: None of the routine two-dimensional echocardiographic data differ between patients with hemophilia and controls. None of the patients and controls showed ≥ grade 1 valvular regurgitations and had valvular stenoses. In one subject, the near absence of LV twist called as LV "rigid body rotation" could be detected, data of which were managed separately. While 3DSTE-derived apical LV rotation was 3.65 degrees, basal LV rotation proved to be 3.57 degrees leading to 0.08-degree LV apico-basal gradient suggesting counterclockwise LV "rigid body rotation". In the remaining patients, both LV apical rotation (7.25±6.20 vs. 10.39±4.16 degrees, P<0.02) and LV twist (10.24±5.60 vs. 14.38±3.93 degrees, P<0.003) showed significant impairment in patients with hemophilia. CONCLUSIONS: LV rotational abnormalities are present in hemophilia with reduced LV apical rotation and twist.

Left Atrial Volumetric and Functional Properties in Hemophilia - Insights from a Three-Dimensional Speckle-Tracking Echocardiographic MAGYAR-Path Study.

Introduction: Hemophilia is an inherited disorder due to deficiencies in factor VIII (type A) and factor IX (type B). Abnormalities in myocardial mechanics could be theorized due to hemophilia-associated hypocoagubility and related quantitative and qualitative changes of the blood. The present study aimed a detailed assessment of left atrial (LA) volumetric and functional properties in patients with hemophilia using three-dimensional speckle-tracking echocardiography (3DSTE). Materials and Methods: The study consisted of 12 subjects with hemophilia type A and 2 cases with hemophilia type B (mean age: 40.8 ± 19.1 years, all males). Results of hemophilia patients were compared to that of 23 age-, gender- and risk factor-matched controls (42.4 ± 9.0 years, all males). Routine two-dimensional Doppler echocardiography and 3DSTE were performed in all subjects. Results: LA volumes respecting cardiac cycle did not differ between controls and hemophilia patients. From LA volume-based functional properties, LA stroke volumes were similar between the groups examined in all phases of LA function. While total atrial emptying fraction featuring LA reservoir function was reduced in patients with hemophilia compared to that of controls, passive and active atrial emptying fraction characterizing LA conduit and booster pump functions were similar between the groups. From LA strains, peak mean segmental circumferential and longitudinal LA strains were impaired in patients with hemophilia, other peak LA strains were similar between the groups. LA strains at atrial contraction did not differ between groups of hemophilia patients and controls. Conclusions: Hemophilia is not associated with LA volumetric changes, but mild LA functional abnormalities are present.

Human autonomic responses to blood donation.

In order to characterize autonomic responses to acute volume loss, supine ECG, blood pressure (BP) and uncalibrated breathing signal (UBS) recordings were taken before and after blood donation in 48 healthy volunteers. Time and frequency domain parameters of RR interval (RRI), BP and UBS variability were determined. Baroreflex gain was calculated by the technique of the spontaneous sequences and cross-spectral analysis. The systolic (SAP), diastolic (DAP) and mean BP (MAP) increased after the blood withdrawal. The central frequency of breathing and mean heart rate did not change. RRI variability increased in low frequency band (LF), tended to decrease in high frequency band (HF). Systolic BP variability increased in both frequency bands, but was statistically significant only in the high frequency band. Diastolic BP power increased in both frequencies. From the different baroreflex gain estimates, up sequence BRS and HF alpha index decreased significantly. The phase angle between RRI and systolic blood pressure powers in LF band did not change (-58 +/- 24 degrees and -54 +/- 26 degrees ). In the high frequency range, the phase became more negative (-1 +/- 29 degrees and -17 +/- 32 degrees, p = 0.001). The withdrawal of 350-400 ml blood in 5 min resulted in sympathetic activation, which was reflected in increased systolic, diastolic and mean BP. The increased BP oscillation was a sensitive marker of the minor volume depletion. This was coupled by increased RRI oscillation via baroreflex mechanisms in the LF band. Changes in the RRI and BP oscillations in the HF band showed no similar coupling. That points to the fact that RRI oscillations in this band should not be explained entirely by baroreflex mechanisms. Vagal withdrawal was reflected in decreased root mean square of successive differences (RMSSD), decreased HF RRI power and decreased up sequence BRS.