Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. Over the past couple of decades, there has been a greater understanding of the molecular pathways regulating cardiac development. The development of gene targeting technology has led to the generation of a multitude of mouse models with cardiac developmental defects. These studies have led to the identification of numerous transcriptional regulators, signaling molecules and structural genes that are critical for normal cardiac morphogenesis. In addition, multiple genes have been identified that are controlled by these highly conserved molecular pathways.These investigations into the molecular mechanisms of cardiac development have assisted in the identification of genetic etiologies of CHD and provide evidence that many genes may have etiologic roles in human CHD.

Introduction:The traditional lipid and lipoprotein levels in patients with familial combined hyperlipidemia (FCHL) are relatively mildly elevated and do not fully explain the increased risk of cardiovascular disease (CVD). Hypercholesterolemia, hypertriglyceridemia, and elevated levels of apolipoprotein-B (apo-B) characterize FCH. Familial combined hyperlipidemia (FCHL) is a common lipid disorder characterized by elevated levels of plasma cholesterol and triglycerides that is present in 10% to 20% of patients with premature coronary artery disease. The importance of plasma TG as an independent risk factor for CAD was recognized provided support for the earlier observation that plasma TG levels predict relative risk in relatives of FCHL patientsGoal: To study of correlation between of lipid metabolism disorders and coronary atherosclerosisObjectives:- To define correlation of parameters of lipid metabolism in ischemic and control groups- To compare number of injured coronary arteries and parameters of lipid in ischemic menResults:In our study we involved 86 patients who were investigated coronary angiography. Of them 72 (82.7%) patients revealed changes of coronary artery, and one vessel change was 30 (41.6%), two vessels changes were 28 (38.9%), and three vessels 14 (19.4%) respectively. Lipid levels were significantly increased in case group compared with controls. There were no significant difference in number of injured coronary artery and lipid level.Conclusion:In this study found triglyceride was high level than cholesterol, LDL in ischemic disease. Familial combined disorder of metabolism lipid is possible to depend on hyperlipoproteinemia IIB type. Apolipoprotein B (108.5±3.2 mg/dl) was increased compare with control group (89.6±3.4 mg/dl) in ischemic disease.

BACKGROUND:Congenital heart defects (CHD) turn out to be the leading cause of infant mortality in their first yearafter infectious diseases. Per 1,000 infants, born with CHD, about 19-75 failed to survive. It revealsthe fact that CHD is a major cause of childhood mortality in worldwide. Beyond the progress ofmedicine and surgery, the cause of CHD is not fully defined. The majority of studies reveal that CHDis triggered by many factors, such as the genetic and environmental factors.Based on the evidences of the sequence of the human genome and advances in moleculartechnology, genetic factors play a major role. Per 100 newborninfants, they’re found one child, bornwith a CHD is concerned as a highly frequent incident for birth anomaly. Only 0.5% of these congenitaldefects enable to be inherited in accordance with Mendel’s genetic laws, which is associated withthe change and mutation of a single gene. Many found that most congenital anomalies dependupon mutation or change in multiple genes and other relevant factors. As a result of the progressivedevelopment of molecular biology in the past 20 years discovered a range of genes involved in fetusformation, development, growth and control of processes. In our country case, corrective surgeryfor CHD dominates among all cardiovascular surgery in Mongolia. Particularly, for all incidents donesome corrective surgery of congenital heart defects, atrial septal defect operation occupies 42.44%,in other word it is a substantial part of the CHDoperation (D.Tsegeenjav, 2009). Molecular geneticsstudy of infant born with heart defects and simultaneous anomaly of other organ system researchstill has not been done for Mongolian population. In many cases the diagnosis of CHD is delayeduntil their adulthood, which is a research gap to address without further delay and the finding mustbe applied in practice in the near future.GOAL:The aim of the research is to conduct a molecular genetic study of children, born with CHD andcombined abnormalities of other organs and systems, identify gene lesion, location and characteristicsof mutations, pathogenetic mechanism of congenital defects and anomalies among the Mongolianpopulation.RESULT:For this study, there are 118 patients, with congenital heart disease, received surgical treatmentin the cardiovascular department of III central state hospital named P.N. Shastin, involved afterconfirmed diagnosis through objective and instrumental investigations (ECG, Fluoroscopy, EchoKG).The 118 healthy family members of patients sampled as a control group. According to the diagnosisof patients with congenital heart defect, such as atrial septal defects-95 (81.2% ± 3.6), ventricularseptal defects-17 (14.5% ± 3.3), patent ductusarteriosus- 2 (1.7± 0 .0%) have combined severedefects - 4 (3.3% ± 1.0). Out of 118 patients with congenital heart defects, 32.2% (38 patients)was male, whereas women accounted for 67.8% (80 patients) with average age of 22, 3 ± 12.9(minimum 1.0 year, maximum 51 year). These comprised 42.4% in 1-17 years old (average age10 ± 5.27) and 57.6% in 18-51 years old (average age 31 ± 9.54). The 33.9% ± 4.4 (40 patients) of operated patients responded the questionnaire that they have a hereditary heart defect. Shortnessof breath, heart pain, and recurrent pneumonia were the main complaints of patients with CHDthat significantly authentic to statistical probability. From the taken 118 blood samples, 95 werediagnosed ASD, in 7 diagnosed VSD, in 2 diagnosed PDA, in 4 diagnosed combined defects. Forthe 95 samples, we decided to examine the ASD associated GATA4, TBX5gene. It draws attentionto the fact that 81.2% of all congenital heart defects found only ASD. To examine the ASD genes inthe sample, the following changes have occurred. The study found 8 variants of mutations formingASD. It includes on exon 1 Gly 93 Ala (c.278G> C), on exon 1 P163S (c.487C>T).CONCLUSIONS:1. Patients with ASD alone occupy 81,2% of all heart defects in our study.2. For the samples of ASD, the study found 8 different mutations of GATA4.3. In the sample of blood not found TBX5 gene mutation.4. In the samples, one patient with dextrocardiasitusinvertus was combined with congenital heartdefects found E359Xfs (c.1075delG) deletion variation on exon3.

Background: Cardiac surgery with cardiopulmonary bypass is grown rapidly in last years. The application of cardiopulmonary bypass using a heart-lung machine to perform open heart surgery is known to be associated with numerous pathophysiologic changes including injury of cellular components as erythrocyte, platelets, coagulopathy, and fibrinolysis. Objectives: Our study objective is to study on relation of open heart surgery phases and blood coagulation parameters. Materials and Methods: Blood samples from 49 patients (28 females and 21 males, aged 18- 63 years) who underwent open heart surgery with cardiopulnonary bypass (CPB) were collected before and at several time points during, after surgery and analyzed for coagulation parameters at Shastin Third Central Hospital. Results: To compare long continued cardiopulmonary bypass (over 1 h) surgery with less 1 h groups there prothrombin time was found 18.8±5.9 sec, international normalized ratio (INR) 2.09±0.9 sec prolonged (p<0.001) in 7 days after surgery. All coagulation parameters were decreased significantly (p<0.001) in during extracorporeal circulation and after 1 h declamping than preoperative level and reached near normal value in 48 h after surgery. Our results have referred to platelet counts reduction to about 53% in during surgery, 46.8% in 48 h after surgery of the preoperative level 237.4±57.1 with final return to normal levels 228.9±78.6 within 7 days. Conclusions
1. The cardiopulmonary bypass time and patient age in relation to open heart surgery type there were significant difference (p <0.01).
2. The coagulation parameters have revealed significant changes (p <0.01) in relation cardiopulmonary bypass time.
3. All coagulation parameters were decreased significantly (p<0.001) in during extracorporeal circulation and after 1 h decamping than preoperative level and reached near normal value in 48 h after surgery.
4. There was direct and less correlation between platelet level and CPB time (r=0.37, p<0.001).