Motivation. Our previous study showed differences in the atherosclerosis phenotype between Lithuanian and Swedish men that could be influenced by complementary factors, namely oxidation processes and/or oxidative stress. The goal of this study was to evaluate the mainstream biological pathways inducing and maintaining the atherosclerotic process by analyzing genetic biomarkers particularly in inflammatory and metabolic pathways where the main focus is laid on the oxidation process. Methods. There were 32 families recruited for the study and clinical as well as biochemical analyses were performed. For genetic analysis 150 SNPs in 89 genes were selected in order to construct a microarray based on Arrayed Primer Extension (APEX) genotyping technology. Genotyping was carried out in 28 families and transmission disequilibrium test (TDT), siblingTDT (STDT), and combined analysis were performed. Results. Clinical and biochemical analysis revealed that probands with premature CAD were more likely to have diabetes mellitus, arterial hypertension, dyslipidemia and were male with high body mass index. Genetic analysis showed six SNPs statistically significantly associated with the atherosclerosis phenotype in the candidate genes ITGA2, IL1B, ALOX5A, OR13G1, MMP9 and NFKB1. These genes belong to different biological pathways: trombocyte adhesion and vessel damage, inflammation response, cholesterol and lypoxygenase metabolic pathway and nutrition. Conclusions. Generalized clinical, biochemical, bioinformatical and candidate genes association results support our hypothesis and indicate that the oxidation process may be of key importance in the formation of atherosclerosis., Ingrida Pepalyte, Zita Aušrele Kučinskiene, Kristina Grigalioniene, Žaneta Petrulioniene, Vilma Dženkevičiute, Loreta Bagdonaite, Vaidutis Kučinskas, and Literatura
Hypertrofická kardiomyopatie (HCM) je nejčastější geneticky podmíněné srdeční onemocnění s prevalencí 1 : 500. Ve familiárních případech je dědičnost autozomálně dominantní s neúplnou penetrancí a různou expresivitou, může ovšem vznikat i de novo mutacemi. Nesmírná heterogenita projevů i prognózy HCM případ od případu značně komplikuje klinický management, a proto toto onemocnění stále často přináší mnoho otázek nejen pro lékaře prvního kontaktu, ale i pro kardiology. Stanovení rizika náhlé srdeční smrti u pacientů s HCM je integrální součástí klinického managementu a doporučení pro stratifikaci se neustále vyvíjí. V této kazuistice prezentujeme případ familiární HCM u dvou bratrů nesoucích stejnou mutaci s velmi rozdílným klinickým nálezem a průběhem., Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease with a prevalence of 1 : 500. In familial cases the inheritance is autosomal dominant with non‑complete penetrance and variable expression; however, it can also be caused by de novo mutations. The heterogeneity of both its presentation and prognosis from case to case largely complicates clinical management, and therefore the disease often represents a dilemma for primary care clinicians as well as cardiologists. An estimation of sudden cardiac death risk is an integral part of clinical management and the stratification guidelines are continuously developing. We report on a case of familial HCM in two brothers with the same gene mutation, with very different clinical presentations and consequences., and Kilianová A., Špinarová M., Špinarová L., Grochová I., Feitová V., Krejčí J.