Srce in ožilje (Slovene)

Coronary artery disease (CAD) is a complex disease trait, which appears to be due to interaction of multiple genetic and environmental factors. The genetic variability of the candidate genes for CAD affects the genetic predisposition to CAD. In the association study of 171 Slovenian patients with CAD were compared with 134 subjects in the control group. Multiple logistic-regression analysis showed that the positive family history of CAD confers the 2.4-fold independent risk for CAD and DD genotype of the insertion/ deletion polymorphism of the angiotensin converting enzyme confers the 2.3-fold independent risk for CAD. Polymorphism of the apoprotein E influences the LDL cholesterol level. Despite the effect on the LDL cholesterol level, it did not affect the phenotype expression of CAD. Mutational analysis of patients with familial hypercholesterolemia was performed. Familial defective apoprotein B-100 was found in 1.1 %. With the non-radioactive Southern blot method we did not identify any large deletion in the LDL gene. Diffuse and distal CAD is characterised by long atherosclerotic segments, and the structure of the vessel wall is altered diffusely and concentrically in the whole course of the vessel. The study involved 67 patients with diffuse and distal CAD and the morphometrical analysis is in progress. The endomyocardial biopsy specimens of 65 patients with unexplained congestive heart failure were evaluated. The results of histopathological analysis were consistent with active myocarditis according to the Dallas criteria in 10 patients (15%), borderline myocarditis in 9 (13.8%), and dilated cardiomyopathy in 25 patients (38.5%). The highest numerical areal density of mast cells was found in active myocarditis. Increased number of mast cells and higher degree of degranulation of mast cell in myocarditis compared to dilated cardiomyopathy and control group indicates that they are activated. Mast cells are most probably involved in the pathogenesis of myocarditis.