Search Results (38)

Preimplantation genetic testing (PGT) has been used in various forms over the last two decades. PGT involves testing early embryos following in vitro fertilization and has now become an accepted part of genetic testing. Nowadays, PGT serves as a resource for couples who have a family history of monogenic disorders, wherein the fetus is at high risk of inheriting the condition. PGT is also used to improve pregnancy outcomes in IVF patients in cases of recurrent IVF implantation failure, recurrent miscarriages, as well as male factor. It is also used in screening for sex-linked disorders and sourcing stem cells for therapy. The latest PGT direction is polygenic embryo screening (PES, PGT-P), which allows the identification of embryos that are at elevated risk for significant diseases in adulthood, such as coronary artery disease (CAD), diabetes, hypertension, and breast cancer. As the prevalence and the potential for the use of PES grow, fundamental ethical issues have been underlined, raising concerns about the broader implications of genetic testing. This narrative review summarizes indications, methods, applications, and limitations for PGT, with a particular focus on PES. Full article

Background and Objectives: Coronary artery disease (CAD) significantly impacts health-related quality of life (HRQoL), with lifestyle factors and comorbidities influencing various dimensions of well-being. This study aimed to assess HRQoL and its association with sociodemographic and lifestyle factors in CAD patients. Materials and Methods: A cross-sectional study was conducted at the Rajiv Gandhi Co-operative Multispecialty Hospital, South India, from July 2022 to April 2023, where lifestyle factors were assessed, and HRQoL was measured using the EQ-5D-3L. The differences and associations of sociodemographic and lifestyle factors with HRQoL were analyzed using the chi-square test and multivariate regression. Results: A total of 212 CAD patients were included in this study. Female gender and comorbid disease were more likely to be associated with reported problems in mobility (89.7%, 78.8%) and anxiety/depression (97.4%, 92.7%) (p < 0.05). Factors such as age ≥ 50 years, family history of CAD, current smoking, comorbid disease, and a moderate- to high-risk diet significantly influenced anxiety/depression (p < 0.05). Patients with comorbid disease and moderate- to high-risk dietary intake were significantly associated with all five dimensions (p < 0.05). Gender, educational level, alcohol intake, and sleep duration did not show a significant association with all dimensions (p > 0.05). Conclusions: This study found that CAD patients undergoing treatment for secondary prevention exhibited inadequate HRQoL, particularly in terms of mental health. Factors such as comorbid disease and moderate- to high-risk dietary intake were significantly associated with reduced HRQoL. Older age, family history of CAD, current smoking habit, comorbid disease, and a moderate- to high-risk diet were significantly associated with anxiety/depression. Full article

Background/Objectives: The role of speckle-tracking echocardiography in the diagnosis of stable coronary artery disease (CAD) remains controversial. The aim of this study was to assess the diagnostic accuracy of global longitudinal strain (GLS) in predicting significant CAD. Methods: In this prospective study, 103 symptomatic patients referred for invasive coronary angiography were enrolled. All patients underwent resting echocardiography with GLS assessment prior to angiography. Exclusion criteria included acute coronary syndrome, known history of CAD, and the presence of left ventricular wall motion abnormalities. Significant CAD was defined as ≥50% stenosis in at least one major epicardial coronary artery. Results: The mean patient age was 63.8 ± 9.3 years, with 78.6% being male. Hypertension was present in 63.1% of patients, dyslipidemia in 77.7%, diabetes mellitus in 22.3%, smoking history in 71.9%, and a family history of premature CAD in 24.3%. Significant CAD was identified in 45.6% (n = 47), while the remaining 54.3% (n = 56) had non-significant or no coronary artery disease. Patients with significant CAD exhibited significantly lower GLS values compared to those without (−15.73 ± 2.64% vs. −17.6 ± 1.85%, p = 0.001). A GLS threshold of >−16.3 predicted significant CAD with 66% sensitivity and 73.2% specificity (AUC = 0.692, p = 0.001). GLS demonstrated diagnostic accuracy in identifying disease in individual coronary territories, with AUCs of 0.754 for the left anterior descending artery (LAD), 0.714 for the left circumflex artery (LCx), and 0.723 for the right coronary artery (RCA). Diagnostic performance improved when GLS was combined across all three territories (AUC = 0.796). Conclusions: Resting myocardial GLS is accurate in detecting ischemic myocardial dysfunction and can accurately predict significant stenosis of the respective coronary branch subtending the segments. Full article

Background and Objectives: Atherosclerotic cardiovascular disease is one of the most common causes of death and disability around the world. Hypercholesterolemia is an established and widely prevalent risk factor; however, the prevalence of severe hypercholesterolemia (which is characteristic for familial hypercholesterolemia) has been studied far less. The aim of this study was to determine the prevalence of severe hypercholesterolemia among patients with acute coronary syndrome. Materials and Methods: A retrospective study of patients hospitalised at Vilnius University Hospital Santaros Klinikos due to acute coronary syndrome was performed. Data were attained from an electronic medical history database. Data such as sex, age, cardiovascular risk factors (hypertension, diabetes) and low-density cholesterol results were collected. Severe hypercholesterolemia was defined as low-density lipoprotein cholesterol levels ≥ 4.9 mmol/L. Results: A total of 34,669 patients were included in this study (12,115 females (34.9%) and 22554 (65.1%) males, p < 0.001). The median age of the entire study population was 67 years. A total of 3434 patients (9.9%) had severe hypercholesterolemia, 371 (1.1%) patients met the criteria for phenotypically probable familial hypercholesterolemia, and 36 (0.1%) patients presented with phenotypically definite familial hypercholesterolemia. The most common concomitant risk factor in this study was arterial hypertension, which was found in 48% of patients. Conclusions: Based on the results of this study, severe hypercholesterolemia is prevalent among patients with acute coronary syndrome, with as many as 9.9% of patients presenting with severe hypercholesterolemia at the time of hospitalisation. The definite familial hypercholesterolemia phenotype is scarcer, with prevalence reaching 0.1% of patients with acute coronary syndrome. Full article

Objective: With the growing number of individuals over the age of 90 (nonagenarians), understanding the risk factors and clinical outcomes associated with acute coronary syndrome (ACS) in this population has become increasingly important. This study aims to compare demographic, biochemical, and clinical parameters between nonagenarian ACS patients and a control group of healthy individuals within the same age bracket, as well as to analyze differences within the ACS group according to myocardial infarction type and evaluate the impact of percutaneous coronary intervention (PCI) on in-hospital mortality. Methods: 104 patients aged 90–100 years diagnosed with ACS for the first time between January 2022 and January 2024 were included in this retrospectively designed case-control study. The patients were categorized into ST-elevation myocardial infarction (STEMI) and non-ST-elevation myocardial infarction (NSTEMI) groups based on their electrocardiographic findings. The control group included 113 healthy individuals within the same age range with no prior history of coronary artery disease. Data on traditional risk factors, including lipid profiles and family history, were analyzed using logistic regression models. Additionally, differences in clinical outcomes, including the length of hospital stay and mortality rates, were evaluated based on the application of PCI. Results: The ACS group exhibited significantly higher glucose, white blood cell count, and total cholesterol levels, along with lower hemoglobin and mean corpuscular volume, compared to the control group (p < 0.05). While no significant difference was found in low-density lipoprotein (LDL) levels, high-density lipoprotein (HDL) levels were significantly lower in ACS patients (p < 0.001). Family history played a more substantial role in the STEMI group compared to the NSTEMI group (p = 0.049). Additionally, STEMI patients were more likely to undergo invasive procedures, which were associated with reduced in-hospital mortality (p = 0.042). In contrast, no significant difference in mortality was observed in the NSTEMI group based on PCI status. Conclusions: This study highlights the distinct risk profiles of elderly ACS patients, emphasizing the critical role of low HDL levels and family history, particularly in STEMI cases. Furthermore, PCI was shown to reduce in-hospital mortality rates in STEMI patients, suggesting that invasive treatment approaches may be beneficial even in this vulnerable population. Personalized and multidisciplinary management strategies are essential for this vulnerable population. Further prospective research is needed to validate these findings and guide clinical decision-making for nonagenarians. Full article

Background/objectives: Cardiovascular risk (CVR) stratification in clinical settings remains limited. This study aims to evaluate clinical parameters that could improve the identification of higher-than-expected coronary artery disease (CAD) in CT scan coronarography. Methods: In a cross-sectional study of asymptomatic patients from the Integrated Cardiovascular Assessment Program (ICAP), volunteers aged 40–80 without diagnosed cardiovascular disease were assessed. CVR factors like obesity, lipid and glucose profiles, liver fibrosis risk (FIB-4 ≥ 1.3), C-reactive protein, and family history of CVD were evaluated. Patients were stratified by CVR following ESC guidelines. “CVR excess” was defined as CAD-RADS ≥ 2 in low-to-moderate-risk (LMR), CAD-RADS ≥ 3 in high-risk (HR), and CAD-RADS ≥ 4 in very-high-risk (VHR) groups. Results: Among 219 patients (mean age 57.9 ± 1.15 years, 14% female), 43.4% were classified as LMR, 49.3% as HR, and 7.3% as VHR. “CVR excess” was observed in 18% of LMR, 15% of HR, and 19% of VHR patients. LMR patients with prior statin use and HR patients with obesity were more likely to have “CVR excess” (p < 0.01 and p < 0.05, respectively). FIB-4 modified the effect of statin use and obesity on “CVR excess” prediction (p for interactions < 0.05). Models including age, sex, and both interactions showed a strong discrimination for “CVR excess” in LMR and HR groups (AUROC 0.84 (95% CI 0.73–0.95) and 0.82 (95% CI 0.70–0.93), respectively). Conclusions: Suspected liver fibrosis combined with statin use in LMR patients and obesity in HR patients is associated with CVR excess, providing potential indications for image CAD assessment in asymptomatic patients. Full article

Coronary artery disease (CAD) is usually associated with the elderly, but an increase in its incidence has been recently reported among young people, including very young women. The aim of this study is to assess the associations between different clinical variables and the risk of early CAD and occurrence of major adverse cardiovascular events (MACEs) during follow-up. Our cohort consists of women ≤40 years referred for coronary angiography due to suspicion of CAD; a nested case–control study was conducted among these patients. In total, 19,321 coronary angiographies were performed between 2006 and 2015, of which 2.6% were in patients ≤40 years old; 52 women were finally included. Family history of CAD was strongly associated with the early onset of the disease [OR 5.94, 95%CI (1.13–31.15); p = 0.035] in young women. The incidence of MACE was also associated with depression [HR 8.20 95%CI (1.03–65.17); p = 0.047] and Castelli Index [HR 11.49, 95%CI (1.40–94.51); p = 0.023]. Primary prevention focused on genetic analysis for high-risk women with a family history of CAD and secondary prevention, targeting a better cholesterol management and mental health assistance must be considered. Full article

The intention of this study was to profile the cohort from the Greek Registry for the prevalence of Familial Hypercholesterolemia (GRegistry-FH) by estimating the prevalence of coronary artery disease (CAD), myocardial infarction (MI), stroke, dyslipidemia, arterial hypertension, diabetes mellitus (DM), pre-DM, smoking, abnormal thyroid function (ATF), and lipid values. The GRegistry-FH is a prospective study involving door-to-door interviews conducted by trained interviewers. Overall, 7704 individuals aged ≥18 years, randomly selected from all the regions of Greece, participated. The prevalence of atherosclerotic cardiovascular disease (ASCVD) was 13.9% (CAD 6%, MI 3.2%, stroke 4.7%). Treated hypercholesterolemia was present in 20.1%, arterial hypertension in 24%, and DM in 11.3% individuals (25.5% had pre-DM). The prevalence of smoking was 37.9% (29% current) and the prevalence of ATF was 13.1% (hypothyroidism 11.3%). A family history of ASCVD was reported by 60.5% (CAD 32.2%, stroke 28.3%). The mean (SD) lipid values in mg/dL were as follows: total cholesterol of 201.8 (41.5), low-density lipoprotein cholesterol of 126.3 (30.1), high-density lipoprotein cholesterol of 51.9 (12.5), and triglycerides of 135.9 (64.7). The GRegistry-FH highlights the significant prevalence of ASCVD and its risk factors among Greek adults, indicating a pressing need for early detection and management strategies to mitigate ASCVD burden. This nationwide registry serves as a crucial tool for guiding public health policies and personalized preventive measures (NCT03140605). Full article

Background and aims: Lower Extremity Artery Disease (LEAD) is a predictor of atherosclerotic plaques in other locations and significantly increases the risk of death from cardiovascular events. This study aimed to identify cardiology patient subpopulations that should undergo Ankle-Brachial Index (ABI) measurement. Methods: A total of 800 patients hospitalized in the Department of Cardiology were included. Inclusion criteria were age over 40 years for men and over 45 years for women, with the ability to measure ABI. Results: The study group was divided into two subgroups based on ABI values, with LEAD (ABI ≤ 0.9) detected in 61 patients (7.6%). Among these, 45% exhibited symptoms of intermittent claudication. LEAD was significantly more common in patients with a lower ejection fraction, a history of myocardial infarction, coronary artery disease, coronary atherosclerosis, heart failure, hypercholesterolemia, diabetes, and in those with a past diagnosis of atherosclerosis. There was no statistical association with the incidence of ischemic stroke, renal failure, hypertension or a family history of cardiovascular disease. Average living conditions and financial status increased LEAD likelihood (p = 0.029; p = 0.018), while physical activity reduced it (p < 0.001). LEAD occurred more often in both current and former smokers. Patients with LEAD were more likely to be on statin therapy (p = 0.002). Higher hemoglobin A1c levels significantly increased the risk of LEAD. Conclusions: Identifying patients with risk factors for LEAD suggests that ABI measurement should be performed to detect LEAD early and implement appropriate diagnostic and therapeutic strategies. Full article

Severe obesity is closely associated with an increased risk of comorbidities and alterations in cardiac structure and function. The primary objective of this study was to investigate cardiovascular (CV) risk factors and ventricular remodeling in individuals from an obese population eligible for bariatric surgery. The secondary objective was to evaluate changes in anthropometric, clinical laboratory, and echocardiographic measurements 12 weeks after surgery compared to baseline values. This retrospective observational cohort study involved patients from a single specialized bariatric surgery center. A total of 35 patients were included (mean age 41.5 ± 10.3 years; BMI 43.4 ± 6.6 kg/m²), of whom 34.2% had a family history of coronary artery disease (CAD), 5.7% had a prior history of CAD, 8 had essential hypertension, 11.4% had dyslipidemia, 20% were smokers, and 8.6% were former smokers. Approximately 57% of the patients exhibited concentric left ventricular remodeling, and 14% had grade I diastolic dysfunction. At 12 weeks post-surgery, with an average weight loss of 25 kg and a mean BMI reduction of 8.5 kg/m², 14% of the patients still exhibited concentric left ventricular remodeling, and about 11% had grade I diastolic dysfunction. Bariatric surgery contributes to the improvement of cardiac function and structure over time as a result of significant weight loss. Full article

Family history for CAD (coronary artery disease) is an established cardiovascular (CV) risk factor and it is progressively acquiring importance in patients’ CV risk stratification. Numerous studies have demonstrated that individuals with a first-degree relative affected by CAD have a significantly higher risk of developing the condition themselves; in particular, when CAD occurs at an early age in relatives. Indeed, recently published CCS (chronic coronary syndrome) ESC (European Society of Cardiology) guidelines include family history (FH) as a risk factor to consider when calculating pre-test risk for CAD. ESC guidelines on preventive cardiology (2021) only suggested CV risk assessment in the presence of a positive FH for CV disease, not considering it in the actual risk scores. Evidence suggests that positive anamnesis for relatives affected by CAD correlates with ACS (acute coronary syndrome) and CAD, with slight differences in relative risk as far as the degree of kinship is concerned. Genetic factors contribute to this correlation by influencing key processes that affect heart health, such as cholesterol metabolism, blood pressure regulation, and inflammatory responses. New technologies in the genetics field are increasing the availability of genome sequencing, and new polymorphism panels are being tested as predictive for CAD, objectifying familiarity. Advances in imaging techniques allow the assessment of coronary atherosclerosis and its composition, and these are acquiring strength in evidence and recommendations in ESC guidelines as a way to define coronary disease in low and low-to-intermediate risk patients and to guide medical therapy and interventional procedures. Use of these emerging tools to guide screening is likely to be extended, beyond high CV risk patients, to individuals with FH for early CAD and/or specific genetic profiles, as recent evidence in the literature is suggesting. Full article

The risk-factor-based prediction of atherosclerotic coronary artery disease (CAD) remains suboptimal, particularly in the absence of any of the standard modifiable cardiovascular risk factors (SMuRFs), making the discovery of biomarkers that correlate with atherosclerosis burden critically important. We hypothesized that cytokines and receptors associated with inflammation in CAD—tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), interleukin-18 (IL-18), and osteoprotegerin (OPG)—would be independently associated with CAD. To determine this, we measured the serum biomarker levels of 993 participants from the BioHEART study who had CT coronary angiograms that were scored for severity of stenosis and plaque composition. We found that the quartiles of TRAIL, OPG, and IL-18 were significantly associated with disease scores, and that the IL-18/TRAIL and OPG/TRAIL ratios demonstrated significant differences between no CAD vs. STEMI whereas only the OPG/TRAIL ratio showed differences between no CAD and obstructive CAD (stenosis > 50%). However, these associations did not persist after adjustment for age, sex, SMuRFs, and a family history of CAD. In conclusion, TRAIL, IL-18, and OPG and the derived ratios of IL-18/TRAIL and OPG/TRAIL demonstrate significant associations with raw disease scores and risk factors, but these markers are not discriminatory biomarkers for the prediction of CAD when incorporated into multi-variable risk models. Full article

Background and Objectives: Cardiovascular disease (CVD) remains a major public health issue worldwide, disproportionately affecting socioeconomically disadvantaged populations due to the social determinants of health (SDOHs). In Western Romania, these populations are particularly vulnerable to CVD. This study aims to investigate the prevalence and impact of cardiovascular risk factors (CVRFs) among socioeconomically disadvantaged individuals in Western Romania and identify the primary CVRFs contributing to the high incidence of CVD within this population. Materials and Methods: A retrospective observational design was employed, utilizing data from the medical records of 1433 eligible individuals. The inclusion criteria were based on Eurostat’s EU-SILC benchmarks, focusing on severe material deprivation, at-risk-of-poverty rates, and low work intensity. Data on demographics, familial and personal medical history, smoking status, blood pressure, glucose, cholesterol, triglycerides, and HbA1c levels were collected. Results: Of the 1433 subjects, 34.75% were male, with a median age of 52 years. Significant conditions included diabetes (7.39%), coronary disease (3.83%), arterial hypertension (35.58%), and dyslipidemia (21.28%). Median ages were higher for those with diabetes (65 vs. 51 years, p < 0.0001), coronary disease (64 vs. 51 years, p < 0.0001), arterial hypertension (65 vs. 43 years, p < 0.0001), and dyslipidemia (66 vs. 47 years, p < 0.0001). BMI (Body Mass Index) classifications showed 33.77% were overweight, 21.21% obese, and 15.07% morbidly obese. Smokers were younger than non-smokers (48 vs. 54 years, p < 0.0001). Conclusions: The findings highlight the significant prevalence of CVRFs among socioeconomically disadvantaged populations in Western Romania. Socioeconomically disadvantaged populations exhibit a significantly higher prevalence of cardiovascular risk factors such as diabetes, impaired glucose regulation, hypertension, and dyslipidemia compared to their before known status. Full article

Background: Myocardial infarction (MI), presented as ST-segment elevation MI (STEMI) and non-ST-segment elevation MI (NSTEMI), is influenced by atherosclerosis risk factors. Aim: The aim of this study was to assess the patterns of presentation of patients with acute MI in Kosovo. Methods: This was a cross-sectional study conducted at the University Clinical Center of Kosovo, which included all patients hospitalized with acute MI over a period of 7 years. Results: Among the 7353 patients admitted with acute MI (age 63 ± 12 years, 29% female), 59.4% had STEMI and 40.6% had NSTEMI. The patients with NSTEMI patients less (48.3% vs. 54%, p < 0.001), but more of them had diabetes (37.8% vs. 33.6%, p < 0.001), hypertension (69.6% vs. 63%, p < 0.001), frequently had a family history of coronary artery disease (CAD) (40% vs. 38%, p = 0.009), and had more females compared to the patients with STEMI (32% vs. 27%, p < 0.001). The patients with NSTEMI underwent less primary percutaneous interventions compared with the patients with STEMI (43.6% vs. 55.2%, p < 0.001). Smoking [1.277 (1.117–1.459), p ˂ 0.001] and high triglycerides [0.791 (0.714–0.878), p = 0.02] were independent predictors of STEMI. Conclusions: In Kosovo, patients with STEMI are more common than those with NSTEMI, and they were mostly males and more likely to have diabetes, hypertension, and a family history of CAD compared to those with NSTEMI. Smoking and high triglycerides proved to be the strongest predictors of acute STEMI in Kosovo, thus highlighting the urgent need for optimum atherosclerosis risk control and education strategies. Full article

Background: The prevalence of traditional cardiovascular risk factors shows different age-specific patterns. It is not known whether the prognostic impact of risk factors is similarly age-specific. We evaluated the profiles of cardiovascular risk factors and their prognostic impact on coronary artery disease (CAD) in relation to age. Methods: We included 3667 patients with suspected or known CAD undergoing stress myocardial perfusion imaging (MPI). We evaluated the risk for major adverse cardiac events (MACE) within three years from the index MPI in patients belonging to three groups according to age tertile distribution: <59, 59–68, and >68 years. Gender, body mass index, diabetes, hypertension, dyslipidemia, family history of CAD, smoking, angina, dyspnea, previous CAD, and MPI outcome were assessed as risk factors by a multivariable Cox’s regression. Results: The three-year risk of MACE increased progressively with age and was 9%, 13%, and 18% for each group, respectively (p < 0.0001). Dyspnea and abnormal MPI outcome were significant risk factors for all age groups. Diabetes and smoking were significant from the age of 59 onwards, while hypertension resulted significant for patients older than 68 years. Conclusions: The number of risk factors was significantly associated with the occurrence of MACE increase with age. It is noteworthy that a personal history of CAD was not useful for risk stratification, while MPI results were. Full article