Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary.

Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) cause early onset of coronary heart diseases (CHD). According to the recommendations of the international MEDPED program, we tried to find FH cases. We analyzed 73 FH probands and their 304 first-degree relatives. A total of 39 probands were found from the 21000 subjects screened (1:538) from family doctors' registers recording all citizens, while the remaining 34 were derived from screened patients from lipid clinics. In our FH probands, four cases of FDB (R3500Q mutation) were diagnosed with allele-specific PCR, and the mutation was also detectable in five cases out of seven living family members. In the remaining 69 FH families, 156 people were diagnosed clinically with FH, and 31.8% of the males (against 13% of the not clinically diagnosed FH males, P<0.01), and 32.4% of the females (against 13.5% of the not clinically diagnosed FH females, P<0.01) suffered from early onset CHD. The plasma total cholesterol level of the FDB patients, especially in the younger patients, was very close to normal values. Therefore, the FDB patients seem to be under-represented in this type of survey. Because FDB is one of the independent causes of early onset CHD, the R3500Q mutation should be considered in families with a high frequency of cardiovascular diseases.

Doppler echocardiographic evaluation of left ventricular relaxation in patients with coronary artery disease.

The time constant of the left ventricular isovolumic pressure decline (Tc) was determined according to the Weiss equation in 23 patients with chest pain who underwent cardiac catheterization. Out of them 15 patients had significant coronary artery stenosis (CAD). Tc was compared to 21 diastolic Doppler data derived from the transmitral inflow. We could predict the Tc from Doppler data using a stepwise multiple regression model, Tc = (0.072 x A-Vpeak)-(0.387 x A-dect)-(0.137 x E-dect) + 0.050 (r = 0.7493, p < 0.0011 SEE = 0.007 All Doppler data and the predicted Tc were examined among the CAD and the healthy groups, the predicted Tc and E/A ratio indicated the best discriminant functions.

[Comparative study of digitalized M-mode and Doppler echocardiography in assessing left ventricular function]. / A digitalizált M-mód és Doppler echocardiographia összehasonlító vizsgálata a bal kamra funkciójának megítélésében.

The systolic and diastolic functions were examined using digitized M-mode and Doppler echocardiography in 27 patients with previous myocardial infarction and in 20 healthy subjects. Both methods separated well the patients from the control group but their difference was significantly greater when the ventricular function was assessed with Doppler parametres, digitized M-mode and Doppler echocardiographical results were controlled for possible correlations, but only time intervals showed significant correlations. The highest correlation was found between the values for isovolumic relaxation period. The authors conclude that Doppler echocardiography is to be preferred as a method for assessing the systolic and diastolic functions of the left ventricle.

[Reproducibility of the Doppler spectrum of the left ventricular stroke volume]. / A bal kamra kiáramlási Doppler spektrumának reprodukálhatósági vizsgálata.

The left ventricular stroke volume was determined in 15 healthy male volunteers of the same age (21-23 yrs). The systolic function was characterized by six, the diastolic function by five parameters. The diameter and the cross-sectional areas of the outflow tract were determined. Intraobserver, interobserver and day-to-day variability of these parameters were investigated. The reproducibility was tested by 4 statistical methods. The significance of the differences between the mean values was determined, as well as the percentual difference of the mean values and of the variation coefficients. Linear regression analysis was done and the correlation coefficient was determined for each parameter. The variation coefficient could be regarded as the best statistical method for characterizing the reproducibility. Thus the simplest, directly measured Doppler parameters gave the best reproducibility. The reproducibility of the complex, calculated parameters was poorer. Comparing the intra- and interobserver reproducibility error, the former one was less.

[Determination of the diastolic function of the left ventricle in post-infarction patients using a complex echocardiographic index]. / A bal kamra diastolés funkciójának megítélése postinfarctusos betegeken komplex echocardiographiás index alkalmazásával.

The diastolic function of 25 patients with ischemic heart disease was studied by both digitized M-mode and Doppler echocardiography. The control groups were a group of healthy subjects and patients with hypertension, resp. There was a significant difference in the diastolic parametres of the healthy and the diseased groups. The altered diastolic function of the latter showed, however, little variation. A new complex diastolic index was formed from the parametres involved in Doppler and M-mode echocardiography. It contains early and late diastolic filling rates, the isovolumic relaxation period, and the diametric change of the left ventricle during the isovolumic relaxation period. This index allowed us to separate the altered diastolic functions of patients with ischemic heart disease from those with left ventricular hypertrophy.

[Examination of the diastolic function of the left ventricle by Doppler echocardiography in coronary disease]. / A bal kamra diastolés functiójának vizsgálata Doppler echocardiographiával koszorúsér betegségben.

The authors examined the left ventricular diastolic function at rest and in pain-free period in patients with chest pain but without previous myocardial infarction. Two patient group were formed according to the results of coronarography: 15 patients had significant coronary artery stenosis, while the coronarography was negative in case of 11 patients. Four Doppler echocardiographic parameters were taken and their sensitivity, specificity, positive and negative predictive values were determined on the base of the result of the coronarography. The small number of patients allows only preliminary evaluation but the results suggest that the altered diastolic function enhances the probability of the presence of significant coronary artery disease, while a normal diastolic function decreases its probability.