Poor Nutritional Status Is Associated with Arrhythmic Events on 24-Hour Holter Recording.

BACKGROUND: Malnutrition is associated with cardiovascular disease morbidity and mortality. Arrhythmias may be the cardiac consequences of malnutrition. OBJECTIVES: The objective of the study was to evaluate the association between prognostic nutritional index (PNI), Controlling Nutritional Status (CONUT) score, and arrhythmic events on 24-h electrocardiography (ECG) Holter recording in patients without manifested arrhythmia. METHODS: In this retrospective analysis of 477 patients who underwent 24-h ECG Holter monitoring, PNI and CONUT score were calculated and patients were divided into tertiles according to PNI and into three groups according to CONUT score; 0: normal, 1-2: mild risk of malnutrition, ≥3: moderate-severe risk of malnutrition. Arrhythmic events were compared between PNI tertiles and CONUT score groups. RESULTS: Total number of premature atrial contractions, premature ventricular contractions (PVCs), PVC burden, and incidence of paroxysmal atrial fibrillation (PAF) were significantly higher in patients within the lowest PNI tertile. Total number of PVCs, PVC burden, and incidence of PAF were significantly higher in patients with CONUT score ≥3. The cut-off value for PNI to predict the presence of PVC was defined as 39.41 using ROC curve analysis. The area under the curve was 0.650 (p < 0.001). Multivariate analysis showed that PNI was independent predictor of the presence of PVC and PAF. Also, CONUT score was independent predictor of the presence of PVC and PAF. Incidence of nonsustained ventricular tachycardia did not differ between PNI tertiles or CONUT score groups. CONCLUSION: Poor nutritional status, assessed by PNI and CONUT score, is associated with arrhythmic events on 24-h ECG Holter recording in patients without manifested arrhythmia.

Prognostic Nutritional Index as a New Prediction Tool for Coronary Collateral Development.

BACKGROUND: Nutritional status is a predictor of the prognosis of cardiovascular diseases. The association between the Prognostic Nutritional Index (PNI), which is an immunonutritional parameter, and cardiovascular diseases has been extensively studied in the literature. OBJECTIVES: The aim of this study was to investigate whether PNI is associated with coronary collateral development. METHODS: This retrospective study included 172 patients with chronic total occlusion. The patients were diagnosed with stable coronary artery disease, and all patients underwent coronary angiography. PNI was calculated using serum albumin level and lymphocyte count. Collateral circulation was classified according to Rentrop grade. RESULTS: There was a positive correlation between PNI and Rentrop grade (r = 0.168, p = 0.026) and a negative correlation between C-reactive protein and PNI (r = -0.353, p < 0.001). Multivariate logistic regression analysis showed that uric acid and PNI were independent predictors of Rentrop grade (p = 0.008 and p = 0.037, respectively). CONCLUSIONS: This study showed that PNI, which can easily be calculated using serum albumin level and lymphocyte count, was a predictor of coronary collateral development in terms of Rentrop grade.

Levels of miR-130b-5p in peripheral blood are associated with severity of coronary artery disease.

BACKGROUND: Although patients with coronary artery disease (CAD) have a high mortality rate, the pathogenesis of CAD is still poorly understood. During the past decade, microRNAs (miRNAs) have emerged as new, potential diagnostic biomarkers in several diseases, including CAD. This study aimed to investigate the expression profiles of miRNAs in individuals with CAD and non-CAD. METHODS AND RESULTS: The Agilent's microarray analyses were performed to compare the whole blood miRNA profile of selected individuals with severe CAD (n = 12, ≥ 90% stenosis) and non-CAD (n = 12, ≤ 20 stenosis). Expressions of selected differentially expressed miRNAs (DEMs) were analyzed for validation in individuals with critical CAD (n = 50) and non-CAD (n = 43) using real-time PCR. Target prediction tools were utilized to identify miRNA target genes. We identified 6 DEMs that were downregulated in CAD patients, which included hsa-miR-18a-3p and hsa-miR-130b-5p, that were analyzed for further testing. Expression levels of hsa-miR-130b-5p were found negatively correlated with SYNTAX score and stenosis in female CAD patients (p < 0.05). In addition, both miRNAs were found positively correlated with plasma HDL and inversely correlated with fasting triglyceride levels (p < 0.05). In linear regression analysis adjusted for several confounders, the correlations have remained statistically significant. Computational prediction of target genes indicated a relevant role of hsa-miR-130b-5p and hsa-miR-18a-3p in modulating the expression of genes associated with cardiovascular diseases. CONCLUSION: Our findings highlight a significantly different pattern of miRNA expression in CAD patients in microarray results. Hsa-miR-18a-3p and hsa-miR-130b-5p might serve as biomarkers of CAD development and progression and warrant further attention.

Cholesterol-related gene variants are associated with diabetes in coronary artery disease patients.

Coronary artery disease (CAD) which is a complex cardiovascular disease is the leading cause of death worldwide. The changing prevalence of the disease in different ethnic groups pointing out the genetic background of CAD. In this study, we aimed to evaluate the contribution of selected cholesterol metabolism-related gene polymorphisms to CAD presence. A total of 493 individuals who underwent coronary angiography were divided into 2 groups: normal coronary arteries (≤ 30% stenosis) and critical disease (≥ 50% stenosis). Individuals were genotyped for APOC1 (rs11568822), APOD (rs1568565), LIPA (rs13500), SORL1 (rs2282649), and LDLR (rs5930) polymorphisms using hydrolysis probes in Real-Time PCR. Blood samples were drawn before coronary angiography and biochemical analyses were done. The results were statistically evaluated. When the study group was stratified according to CAD, the minor allele of APOD polymorphism was found related to decreased risk for T2DM in the non-CAD group. In logistic regression analysis adjusted for several confounders, LDLR rs5930 polymorphism was found associated with T2DM presence in the male CAD group [OR = 0.502, 95%CI (0.259-0.974), p = 0.042]. Besides, APOD and LIPA polymorphisms were shown to affect serum lipid levels in non-CAD T2DM patients (p < 0.05). The minor allele of APOC1 was found associated with triglyceride levels in males independent of CAD status. Besides, LDLR minor allele carrier females had elevated HbA1c and glucose levels independent from CAD status in the whole group. The cholesterol metabolism-related gene polymorphisms were found associated with T2DM and biochemical parameters stratified to sex, CAD, and T2DM status.

Hsa-miR-584-5p as a novel candidate biomarker in Turkish men with severe coronary artery disease.

Coronary artery disease (CAD) is still the preliminary cause of mortality and morbidity in the developed world. Identification of novel predictive and therapeutic biomarkers is crucial for accurate diagnosis, prognosis and treatment of the CAD. The aim of this study was to detect novel candidate miRNA biomarker that may be used in the management of CAD. We performed miRNA profiling in whole blood samples of angiographically confirmed Turkish men with CAD and non-CAD controls with insignificant coronary stenosis. Validation of microarray results was performed by qRT-PCR in a larger cohort of 62 samples. We subsequently assessed the diagnostic value of the miRNA and correlations of miRNA with clinical parameters. miRNA-target identification and network analyses were conducted by Ingenuity Pathway Analysis (IPA) software. Hsa-miR-584-5p was one of the top significantly dysregulated miRNA observed in miRNA microarray. Men-specific down-regulation (p = 0.040) of hsa-miR-584-5p was confirmed by qRT-PCR. ROC curve analysis highlighted the potential diagnostic value of hsa-miR-584-5p with a power area under the curve (AUC) of 0.714 and 0.643 in men and in total sample, respectively. The expression levels of hsa-miR-584-5p showed inverse correlation with stenosis and Gensini scores. IPA revealed CDH13 as the only CAD related predicted target for the miRNA with biological evidence of its involvement in CAD. This study suggests that hsa-miR-584-5p, known to be tumor suppressor miRNA, as a candidate biomarker for CAD and highlighted its putative role in the CAD pathogenesis. The validation of results in larger samples incorporating functional studies warrant further research.

Do pre-procedural laboratory parameters predict drug-eluting stent restenosis?

OBJECTIVE: Drug-eluting stents (DES) have considerably reduced the rates of in-stent restenosis (ISR). Several studies reported pre-procedural C-reactive protein (CRP), neutrophil to lymphocyte (N/L) ratio, red cell distribution width (RDW), serum uric acid (UA), and mean platelet volume (MPV) as independent predictors of ISR using bare metal stents. This study investigates whether any laboratory parameter obtained before the coronary stenting procedure is associated with ISR using DES in stable coronary artery disease. METHODS: Three hundred fifteen stents were retrospectively analysed in 285 patients who had undergone coronary stenting and a control coronary angiography within one year of stenting, between January 2012 and April 2014. Pre-procedural complete blood count, biochemistry, and CRP were recorded. Off-line quantitative coronary angiography analysis was performed. RESULTS: Overall restenosis rate was 10.2%. When the stents were analysed with respect to the presence of ISR, the number of diabetics and smokers was higher in the ISR group. CRP levels were significantly higher in the ISR group, but there were no differences in N/L, monocytes, eosinophils, RDW, MPV, UA, and total bilirubin levels. In the univariate regression analysis, DM, CRP, stent length, stent diameter, pre-procedural diameter stenosis, pre-procedural minimal lumen diameter (MLD), post-procedural residual diameter stenosis, post-procedural reference vessel diameter, and post-procedural MLD were predictors of ISR. However, multivariate regression analysis identified only DM and post-procedural residual stenosis as independent predictors of ISR. CONCLUSION: Pre-procedural blood parameters do not independently predict ISR in DES, which is mainly determined by the presence of diabetes and post-procedural residual stenosis.

Neutrophil to lymphocyte ratio is associated with more extensive, severe and complex coronary artery disease and impaired myocardial perfusion.

OBJECTIVES: We investigated the relation between neutrophil to lymphocyte ratio (N/L) and the extent, severity, and complexity of coronary artery disease (CAD) and myocardial perfusion. STUDY DESIGN: One hundred and fifty-one patients who underwent coronary angiography with stable angina pectoris (SAP) (n=93) or acute coronary syndrome (ACS) (n=58) were included in the study. Blood samples were drawn before coronary angiography. Gensini and SYNTAX scores and myocardial blush grade (MBG) were assessed. RESULTS: Neutrophil counts were 4.4±1.4 and 5.0±1.6 in the SAP and ACS groups (p=0.018), whereas lymphocyte counts were 2.2±0.7 and 2.1±0.7, respectively (p=0.104). N/L was 2.2±1.2 in the SAP and 2.6±1.0 in the ACS (p=0.002) groups. In patients with SAP, N/L was significantly correlated with Gensini and SYNTAX scores (Gensini score r=0.32, p=0.002; SYNTAX score r=0.36, p=0.000), but there was no significant correlation between N/L and MBG. In the ACS group, N/L had a more powerful association with both Gensini and SYNTAX scores (Gensini r=0.42, p=0.001; SYNTAX r=0.51, p=0.000). N/L was negatively correlated with MBG in ACS patients (r= -0.48, p=0.000). Significant correlations persisted both in the SAP and ACS groups after correcting for age, diabetes, hyperlipidemia, and statin use; however, the associations were weaker. Cut-off N/L to predict moderate to severe CAD according to SYNTAX score was 2.26, with 72% sensitivity and 71% specificity (area under the curve [AUC]: 0.772, 95% confidence interval [CI] 0.679-0.865, p<0.001). CONCLUSION: N/L is associated with severe, extensive and complex CAD and may be used to predict moderate to severe involvement in patients with CAD.

Therapeutic effects of line dancing in people with multiple sclerosis: an evaluator-blinded, randomized controlled study.

BACKGROUND: Line dancing is a popular form of exercise shown to affect balance and mood positively. However, few studies examine its effectiveness in multiple sclerosis (MS). The study aims to investigate the effects of line dancing on balance, mood, and health-related quality of life in MS. METHODS: Participants were randomized into the line dance (n =15) and the control groups (n =16). Outcomes were measured using the Berg Balance Scale, Hospital Anxiety and Depression Scale, and Multiple Sclerosis Quality of Life-54 (MSQoL-54) at baseline and post intervention. RESULTS: Post-intervention in the line dancing group, significant improvements were observed in balance, anxiety status, and health-related quality of life. When the groups were compared, significant differences were found in balance, anxiety, and the mental health composite of the MSQoL-54. CONCLUSION: This study recommends the use of line dancing as a therapeutic intervention in MS. Nevertheless, comparisons with different intervention approaches and follow-up studies are needed.

The minor allele of ANGPTL8 rs2278426 has a protective effect against CAD in T2DM patients.

BACKGROUND: Coronary artery disease (CAD) is the leading cause of death worldwide despite advanced treatment and diagnosis strategies. Angiopoietin-like protein 8 (ANGPTL8) mainly functions in the lipid mechanism, which is a dysregulated mechanism during CAD pathogenesis. In this study, we aimed to determine the associations between an ANGPTL8 polymorphism rs2278426 and the severity, presence, and risk factors of CAD. METHODS: A total of 1367 unrelated Turkish individuals who underwent coronary angiography were recruited for the study and grouped as CAD (n = 736, ≥50 stenosis) and non-CAD (n = 549, ≤30 stenosis). Also, subjects were further divided into groups regarding type 2 diabetes mellitus (T2DM) status. Subjects were genotyped for rs2278426 (C/T) by quantitative real-time PCR. Secondary structure analyses of protein interactions were revealed using I-TASSER and PyMOL. RESULTS: Among CAD patients, T allele carriage frequency was lower in the T2DM group (p = 0.046). Moreover, in male non-CAD group, T allele carriage was more prevalent among T2DM patients than non-T2DM (p = 0.033). In logistic regression analysis adjusted for obesity, T allele carrier males had an increased risk for T2DM in non-CAD group (OR = 2.244, 95 % CI: 1.057-4.761, p = 0.035). Also, in T2DM group, stenosis (p = 0.002) and SYNTAX score (p = 0.040) were lower in T allele carrier males than in non-carriers. Analyzes of secondary structure showed that ANGPTL8 could not directly form complexes with ANGPTL3 or ANGPTL4. CONCLUSION: In conclusion, T allele carriage of ANGPTL8 rs2278426 has a protective effect on CAD in T2DM patients. Further research should be conducted to explore the association between ANGPTL8 polymorphism (rs2778426) and CAD.

Genetic variants of ANRIL and coronary artery disease: Insights from a Turkish study population.

BACKGROUND AND AIM: Coronary artery disease (CAD) remains a leading cause of morbidity and mortality globally despite advancements in treatment. Long non-coding RNAs (lncRNAs) play crucial roles in the atherosclerotic process, with ANRIL being one such lncRNA. This study explored the association between ANRIL polymorphisms (rs1333049:C > G, rs564398:T > C, and rs10757274:A > G) and CAD along with CAD risk factors in a Turkish patient group. METHODS: The study included 1285 participants, consisting of 736 patients diagnosed with CAD (mean age = 63.3 ± 10.5 years) and 549 non-CAD controls (mean age = 57.52 ± 11.01 years). Genotypes for rs1333049, rs564398, and rs10757274 were determined using qRT-PCR. RESULTS: G allele carriage of both rs1333049 and rs10757274 polymorphisms were associated with higher Gensini score, SYNTAX score, total cholesterol, and triglyceride levels in female CAD patients and non-CAD males. Females with rs564398 CC genotype were more susceptible to CAD (p = 0.02) and severe CAD (p = 0.05). Moreover, the G and T alleles of rs10757274 and rs564398 were more prevalent among hypertensive males. Also, carrying the C allele for rs564398 was associated with a decreased risk for type 2 diabetes mellitus (T2DM) (p = 0.02). Besides, carriers of the rs1333049 C allele for decreased risk for T2DM (p = 0.03) and CAD complexed with T2DM (p = 0.04) in logistic regression analyses. CONCLUSIONS: In conclusion, selected ANRIL polymorphisms were associated with CAD presence/severity and CAD risk factors, T2DM, and hypertension. Notably, this study, the largest sample-sized study examining the effects of selected polymorphisms on CAD and its risk factors among Turkish individuals, supported the findings of previous studies conducted on different ethnicities.

Hypertension and Occupational Health: A General Overview and Expert Consensus Suggestions.

Hypertension is a common public health issue, and its incidene increases parallel to age. It is inevitable that certain occupational conditions may pose risks for high blood pressure or cause difficulties in managing blood pressure. Working under specific circumstances may compromise the safety of individuals with hypertension and potentially others. Therefore, it is crucial to implement activities that enhance awareness of hypertension, to ensure regular periodic examinations, and to establish necessary precautions in the workplace for the health of employees and the public. Given the limited resources offering guidance on hypertension in the context of occupational health, the authors of this paper, who hail from different disciplines, have prepared a set of consensus-based suggestions.

Duration of migraine is associated with cardiac diastolic dysfunction.

OBJECTIVE: Migraine is a common type of headache accompanied or preceded by signs of central and autonomic nervous system dysfunction. Autonomic dysfunction has been suggested to be a potential contributor to impaired cardiac diastolic function. Cardiac diastolic dysfunction is characterized by normal left ventricular contractility but impaired ventricular relaxation. It is a growing clinical entity implicated in morbidity and mortality due to heart failure. The aim of this study was to determine if any relationship exists between migraine and diastolic dysfunction. METHODS: Migraineurs (N = 55), and age- and sex-matched healthy controls (N = 52) were evaluated by conventional and tissue Doppler echocardiography. Migraine-related disability in the previous 3 months was assessed by the Migraine Disability Assessment questionnaire. Baseline characteristics were recorded, and blood samples were collected. RESULTS: The groups did not differ in terms of sex or age. The migraine group had higher lipid levels compared with the control group. Diastolic dysfunction was significantly higher among the 30 migraineurs with a history of migraine of 10 years or more compared with the 25 migraineurs with a history of less than 10 years, (P = 0.003). In logistic regression analysis, migraine duration was shown to be an independent predictor of diastolic dysfunction (odds ratio 1.130, 95% confidence interval, P = 0.044). CONCLUSIONS: Cardiac diastolic dysfunction is associated with migraine. A long history of migraine is an independent predictor of diastolic dysfunction.

Investigation of miR-26a-5p and miR-19a-3p expression levels in angiographically confirmed coronary artery disease.

BACKGROUND: MicroRNAs have been found to have an essential role in cardiovascular diseases. In previous experiments, the changed expressions of miR-26a-5p and miR-19a-3p were confirmed in patients with severe coronary atherosclerosis by miRNA microarrays. However, the role of two miRNAs in coronary artery diseases (CAD) still needs to be investigated further. Our current study aimed to analyse two miRNAs in angiographically confirmed CAD and non-CAD with insignificant coronary stenosis. This study aimed to identify the potential diagnostic value of circulating miRNA with CAD. METHODS: The CAD patients (n = 50) and non-CAD controls (n = 43) were studied. miRNAs (miR-26a-5p and miR-19a-3p) were quantified by TaqMan miRNA assays using real-time PCR. We subsequently assessed the diagnostic value of the miRNAs and correlations of miRNA with clinical parameters. Target prediction tools were utilised to identify miRNA target genes. RESULTS: The expression of miR-26a-5p was significantly increased in CAD compared to non-CAD controls (p < 0.05). Tertile groups were formed according to the expression levels of miRNAs, and high expression tertile (T3) was compared with low expression tertile (T1). It was found that CAD presence was more prevalent in T3 of miR-26a-5p, and the frequency of diabetes was higher in T3 of miR-19a-3p. There were significant correlations between miRNAs and diabetes risk factors such as HbA1c, glucose levels, and BMI (p < 0.05). CONCLUSIONS: Our findings show that miR-26a-5p expression is altered in CAD presence while miR-19a-3p expression is different in diabetes. Both miRNAs are closely related to risk factors of CAD, therefore, could be therapeutic targets for CAD treatment.

Long-term effects of angiotensin receptor neprilysin inhibitor therapy in heart failure patients with reduced ejection fraction: A retrospective cohort study.

Heart failure is an increasing public health issue with substantial morbidity and mortality rates. This study aimed to evaluate the efficacy, safety, and long-term outcomes of angiotensin receptor neprilysin inhibitor (ARNi) in the treatment of heart failure with reduced ejection fraction (HFrEF) 5 years after treatment initiation. This retrospective study analyzed a cohort of 75 patients diagnosed with HFrEF over a period of 5 years after the initiation of ARNi therapy. The initial clinical condition, laboratory and echocardiographic measurements including left ventricular ejection fraction (LVEF), New York Heart Association functional classes (NYHA-FC) and the prognostic nutritional index were compared to the corresponding values obtained after a 5-year period of ARNi therapy. In addition, the number of annual hospitalizations, mortality rates and any history of adverse effects during the follow-up period were recorded. The N-terminal pro-brain natriuretic peptide (NT-proBNP) level, LVEF, and NYHA-FC values demonstrated significant improvement at the end of the 5-year follow-up period (all parameters, P < .001). Although the observed increase in the prognostic nutritional index was not statistically significant (P = .077), it is worth noting. A significant reduction in daily diuretic doses and hospitalizations due to heart failure was observed following the use of ARNi (all comparisons, P < .001). The prevalence of hypotension was around 16% (being symptomatic in 4%), making it the most frequently observed adverse event. The 5-year cardiovascular mortality rate was 17.3%. The use of ARNi in HFrEF patients was associated with a notable improvement in NYHA-FC, LVEF, and NT-proBNP levels in the long-term, while also leading to a better nutritional status and reduced need for diuretics and annual hospitalization. Additionally, ARNi usage has been associated with improved nutritional status, decreased reliance on diuretics, and reduced frequency of annual hospitalizations. These effects were associated with a lack of significant increase in adverse effects. These results may contribute to a better understanding of ARNi's long-term effects on patient outcomes.

Alteration of circulating miRNAs during myocardial infarction and association with lipid levels.

BACKGROUND: Increasing mortality and morbidity of coronary artery disease (CAD) highlight the emerging need for novel noninvasive markers such as circulating microRNAs (miRNAs). OBJECTIVE: To evaluate the circulating levels of miR-126-3p, miR-210-3p, let-7g-5p, and miR-326, and their associations with known contributors to CAD, in CAD subgroups. METHODS: We divided the cohort into 4 groups: non-CAD controls (≤30% stenosis; n = 55), and patients with stable angina pectoris (SAP; n = 48), unstable AP (UAP; n = 46), and myocardial infarction (MI; n = 36). The circulating levels of miR-126-3p, miR-210-3p, let-7g-5p, and miR-326 were determined using TaqMan Advanced miRNA Assays in serum specimens. RESULTS: Circulating miR-126-3p levels were lower in the MI and UAP groups, compared with the non-CAD group, whereas miR-210-3p circulating levels were lower in the MI group than others. The levels of circulating let-7g-5p were shown to be useful for distinguishing UAP from MI, and there were substantial differences in circulating let-7g-5p levels between the UAP and MI groups. Moreover, lipid levels and ratios were lower in individuals with high circulating miR-126-3p and miR-210-3p levels. CONCLUSIONS: The study results suggest that circulating miR-126-3p, miR-210-3p, and let-7g-5p are differentiated between different clinical presentations of CAD and associated with lipid levels, which are important risk factors and determinants of CAD.

Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis).

PURPOSE: In this prospective study we aimed to determine the rate of Fabry Disease (FD) in patients with left ventricular hypertrophy (LVH), and to evaluate the clinical presentations of patients with FD in a comprehensive manner. In addition, we aimed to raise awareness about this issue by allowing early diagnosis and treatment of FD. METHODS: Our study was planned as national, multicenter, observational. Totally 22 different centers participated in this study. A total of 886 patients diagnosed with LVH by echocardiography (ECHO) were included in the study. Demographic data, biochemical parameters, electrocardiography (ECG) findings, ECHO findings, treatments and clinical findings of the patients were recorded. Dry blood samples were sent from male patients with suspected FD. The α-Gal A enzyme level was checked and genetic testing was performed in patients with low enzyme levels. Female patients suspected of FD were genetically tested with the GLA Gene Mutation Analysis. RESULTS: FD was suspected in a total of 143 (16.13%) patients included in the study. The α-Gal-A enzyme level was found to be low in 43 (4.85%) patients whom enzyme testing was requested. GLA gene mutation analysis was positive in 14 (1.58%) patients. Male gender, E/e' mean ,and severe hypertrophy are important risk factor for FD. CONCLUSION: In daily cardiology practice, FD should be kept in mind not only in adult patients with unexplained LVH but also in the entire LVH population. Dry blood test (DBS) should be considered in high-risk patients, and mutation analysis should be considered in required patients.

Shone's complex with dextrocardia and situs inversus totalis: a case report.

Parachute mitral valve complex is an unusual congenital anomaly that has been described by Shone et al. It is characterized by a parachute deformity of the mitral valve associated with additional forms of left heart anomalies, such as aortic valvular stenosis and coarctation of the aorta. A 21-year-old female who was referred to our department because of progressive dyspnea on effort and at rest and minimal cyanosis is presented in this case report. On cardiac auscultation, the patient had a grade III/VI pansystolic murmur best heard at the lower left sternal border. The chest X-ray demonstrated dextrocardia and mild cardiomegaly. Echocardiographic evaluation revealed Shone's complex, including parachute mitral valve anomaly.

Val109Asp polymorphism in Intelectin 1 gene is associated with coronary artery disease severity in women.

OBJECTIVE: Intelectin-1 is an anti-inflammatory adipokine encoded by the Intelectin 1 (ITLN1) gene. Genetic variations in the ITLN1 gene affect the risk of coronary artery disease (CAD) and related CAD risk factors. In this study, we aimed to investigate whether the ITLN1 gene Val109Asp polymorphism has an effect on the severity of CAD and serum lipid levels in both men and women. METHODS: A total of 493 subjects who underwent coronary angiography (43.5% women, mean age 63.1±9.5 years) were grouped as individuals with critical CAD (≥70% stenosis, n=202), non-critical CAD (31%-69% stenosis, n=90), and non-CAD (control group) (1%-30% stenosis, n=201). Genotyping was performed using LightSNiP assay in Real-Time PCR. RESULTS: The frequency of the Val allele was significantly different among all the patients with critical CAD (n=41) and non-CAD control (n=51) groups in women (p=0.033) but not in men (n=77 and n=38). Women with the Val allele had a 1.69-fold increased risk for critical CAD (p=0.033). In addition, the presence of Val allele was associated with higher coronary stenosis after adjustment for several confounders only in women with critical CAD (p=0.025). Furthermore, carriers of the Val allele exhibited an increased low-density lipoprotein cholesterol (LDL-C) in men with critical CAD than in those with non-CAD (p<0.05). CONCLUSION: These results suggest that the Val allele of the ITLN1 Val109Asp polymorphism is associated with critical CAD and high LDL-C levels in our study population. Further studies are required to elucidate the effect of Val109Asp polymorphism on CAD pathogenesis.

Association of polymorphisms in the sex hormone genes with the presence and severity of coronary artery disease.

OBJECTIVE: Coronary artery disease (CAD) is an important public health problem worldwide. Therefore, it is important to identify the molecular mechanisms and the candidate gene polymorphisms involved in the development of CAD. In this study, we focused on 2 polymorphisms of the atherosclerosis-related genes, ESR1 and CYP19A1. METHODS: Unselected 339 individuals who underwent coronary angiography were divided into 2 groups: those with normal coronary arteries (≤30% stenosis) and those with critical disease (≥50% stenosis). Individuals were genotyped for CYP19A1 rs10046 C/T and ESR1 rs2175898 A/G polymorphisms using hybridization probes in real-time PCR. In addition, Gensini and SYNTAX scores were assessed. RESULTS: ESR1 polymorphism was significantly associated with CAD in men (p=0.036) via G allele carriage. Multiple logistic regression analyses showed that ESR1 rare allele carriage was associated with CAD presence (Odds ratio=2.12, 95% confidence interval 1.01-4.1, p=0.025), adjusted for age, HDL-C, LDL-C and smoking status in the male group. CYP19A1 rs10046 T allele carriers had a 2.84-fold increased risk for complex CAD in multiple logistic regression analysis (p=0.016). Furthermore, the univariate analysis of variance indicated that T allele carriage of rs10046 polymorphism was associated with increased SYNTAX and Gensini scores (p<0.05). Female patients who were ESR1 G allele carriers with CAD had higher adiponectin levels (p=0.005), whereas HbA1c levels were associated with T allele of CYP19A1 in the CAD group (p=0.004) and male CAD group (p=0.018). CONCLUSION: The CYP19A1 and ESR1 polymorphisms were associated with the presence and severity of CAD. These gene polymorphisms warrant further studies for the elucidation of their contribution to CAD development.

Examining the effects of the CLU and APOE polymorphisms' combination on coronary artery disease complexed with type 2 diabetes mellitus.

AIMS: Coronary artery disease (CAD) and type 2 diabetes mellitus (T2DM) are important and increasing public health problems. This study aimed to identify the impact of APOE and CLU gene polymorphisms on the prevalence of both diseases, along with the effect of these polymorphisms on lipid profile and glucose metabolism. METHODS: 736 CAD patients (≥50 stenosis) and 549 non-CAD subjects (≤30 stenosis) were genotyped for APOE (rs429358 and rs7412) and CLU (rs11136000) gene polymorphisms using hydrolysis probes in real-time PCR. Blood samples of the individuals were drawn before coronary angiography and biochemical analyses were done. The associations between the polymorphisms and the selected parameters were assessed using statistical analysis. RESULTS: In this study, the ε2 and ε4 isoforms of apoE were associated with serum lipid levels and TC/HDL-C and LDL-C/HDL-C ratios in analysis adjusted for several confounders and in crude analysis. It was observed that CLU T allele carrier non-CAD subjects had lower glycosylated hemoglobin levels. Furthermore, the effects of APOE and CLU polymorphisms were assessed on CAD and T2DM presence. In crude and multiple logistic regression analyses, the ε2 isoform carriers had a lower risk for CAD complexed with T2DM. When the combinational effects of APOE and CLU polymorphisms were examined, the ε2 and T allele carriers had decreased risk for CAD complexed with T2DM compared to non-carriers. CONCLUSIONS: In conclusion, the combination of APOE and CLU polymorphisms is associated with CAD-DM status along with the APOE ε2 isoform by itself, and the apoE isoforms are strongly associated with serum lipid levels.