Background: There is a paucity of evidence on people with thoracic aortic aneurysm and dissection. We aimed to determine the prevalence of genetic variants and their associations with phenotypes. Methods: In this cross-sectional single-centre cohort study of consecutive patients who underwent endovascular or open-surgical repair of thoracic aortic aneurysm and dissection, genetic analysis was performed using four-stage Next Generation Sequencing, and findings were confirmed with Sanger sequencing. We collected personal and family history on comorbidities, clinical examination, anthropometrics, skeletal deformities, joint function, and ophthalmological measures. Cardiovascular risk and phenotype scores were calculated. Results: Ninety-five patients were eligible (mean age 54 ± 9 years, 70% males, 56% aortic dissection). One-fifth had a family history of aortic disease. Furthermore, 95% and 54% had a phenotype score of ≤5 and ≤2, respectively. There were no significant differences in the distribution of phenotype characteristics according to age, sex, aortic pathology, or performed invasive procedures. Genetic variants of uncertain significance were detected in 40% of patients, with classic mutations comprising 18% of all variants. We observed no significant association with cardiovascular and phenotype scores but with higher joint function scores (p = 0.015). Conclusion: Genetic variants are highly present in clinically relevant aortic pathologies. Variants appear to play a larger role than previously described. The different variants do not correlate with specific phenotypes, age, pathology, sex, or family history.

Background: Chronic inflammation plays a crucial role in developing various cardiovascular and metabolic disorders. Obstructive sleep apnea (OSA) is a unique condition characterized by the coexistence of cardiovascular and metabolic disturbances, where chronic inflammation may exacerbate disease progression and severity. This study investigated how different hematological inflammatory cells and mediators can serve as predictive indicators of severe OSA. Methods: In a retrospective cohort study, 150 patients suspected of having obstructive sleep apnea (OSA) underwent polysomnography (PSG) to confirm the diagnosis. Based on their apnea-hypopnea index (AHI), the patients were categorized into three groups: mild, moderate, and severe OSA. Blood samples were collected for the assessment of inflammatory blood cells and mediators at the time of diagnosis. Results: Among the 150 patients studied, 90 were diagnosed with OSA, and 43 had severe OSA, representing a prevalence rate of 47.7%. Patients with severe OSA were notably older and more likely to have diabetes mellitus and hypertension. After adjusting for age and sex, each one-unit increase in Systemic Inflammatory Response Index (SIRI), C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) levels was associated with a doubling in the likelihood of having moderate and severe OSA (p < 0.05 for all). However, hypertension was linked to a 16-fold increase in the likelihood of moderate and severe OSA (p = 0.01). Conclusion: Our research indicates that comorbidity and inflammatory cells and markers (SIRI, CRP, and ESR) are significantly related to the severity of OSA.

Body mass index (BMI) is seen as a predictor of cardiovascular disease (CVD) in lipedema patients. A valid predictor of CVD is increased aortic stiffness (IAS), and previous research described IAS in lipedema. However, it is not known if this applies to all patients. In this cross-sectional single-center cohort study, peripheral pulse wave velocity (PWV) as a non-invasive indicator of aortic stiffness was measured in 41 patients with lipedema, irrespective of stage and without pre-existing cardiovascular conditions or a history of smoking and a maximum body mass index (BMI) of 35 kg/m². Automatically electrocardiogram-triggered oscillometric sensor technology by the Gesenius–Keller method was used. Regardless of the stage of lipedema disease, there was no significant difference in PWV compared to published standard values adjusted to age and blood pressure. BMI alone is not a predictor of cardiovascular risk in lipedema patients. Measuring other anthropometric factors, such as the waist–hip ratio or waist–height ratio, should be included, and the existing cardiovascular risk factors, comorbidities, and adipose tissue distribution for accurate risk stratification should be taken into account. Automated sensor technology recording the PWV represents a valid and reliable method for health monitoring and early detection of cardiovascular risks.

Background/Objective: To investigate the prevalence and effects of genetic variants (GVs) in survivors of thoracic aortic dissection/aneurysm repair. Methods: Patients aged 18–80 years who survived follow-up after cardiosurgical or endovascular repair of thoracic aortic aneurysm or dissection at a single tertiary center between 2008 and 2019 and underwent genetic testing were enrolled. The exclusion criteria were age >60 years, no offspring, and inflammatory- or trauma-related pathogenesis. Follow-up entailed computed tomography-angiography at 3 and 9 months and annually thereafter. All patients underwent genetic analyses of nine genes using next-generation sequencing. In cases of specific suspicion, the analysis was expanded to include 32 genes. Results: The study included 95 patients. The follow-up period was 3 ± 2.5 years. GVs were detected in 40% of patients. Correlation analysis according to primary diagnosis showed no significant correlation in disease persistence, progression, or in reintervention rates in aneurysm patients and a correlation of disease persistence with genetic variants according to variant class in dissection patients (p = 0.037). Correlation analysis according to follow-up CD finding revealed that patients with detected dissection, irrespective of original pathology, showed a strong correlation with genetic variants regarding disease progression and reintervention rates (p = 0.012 and p = 0.047, respectively). Conclusions: The prevalence of VUS is high in patients with aortic pathology. In patients with dissected aorta in the follow-up, irrespective of original pathology, genetic variants correlate with higher reintervention rates, warranting extended-spectrum genetic testing. The role of VUS may be greater than is currently known.

Background: Heritable connective tissue disorders are often accompanied by an increased risk for thoracic aortic aneurysm and dissection (TAAD). Profound knowledge of the underlying pathology may have an impact on individual treatment, systematic follow-up, and early detection by the screening of offspring. The aim of this study, based in a single high-volume tertiary center, was an analysis of the diagnostic validity of histopathologic findings in patients with TAAD due to these findings’ accuracy in diagnosing heritable connective tissue disorders. Methods: Therefore, genetic testing by next-generation sequencing (NGS) was performed to evaluate the correlations. In total, 65 patients with TAAD undergoing surgical treatment before the age of 60 years or with age up to 80 years if they had offspring at the time of the procedure were included in the analysis. Results: In our cohort, no certain correlation of histological findings to the results of genetic diagnostics in patients with clinically relevant aortic pathology could be shown. Patients with histopathologic findings for heritable connective tissue disorder and a positive gene variant were 11.6 years younger than patients without mutation and without histological evidence for connective tissue disorder. Conclusions: Genetic clarification is useful to define the specific genotype of the disease of the aortic wall in the case of non-specific histological characteristics.

This paper evaluates the effect of blood loss on in-stent stenosis after percutaneous coronary intervention (PCI) in patients with acute myocardial infarction (AMI). Nine hundred and ninety-seven patients who underwent PCI for AMI as well as follow-up coronary angiography at 6–12 months from two centers were categorized into three groups based on peri-interventional blood loss at the primary intervention (mild, 2 mmol/L). The endpoint was to evaluate the incidence and severity of in-stent stenosis at follow-up angiography and the revascularization rate. The incidence of in-stent stenosis and revascularization in mild, moderate, and severe groups was 19.3%, 33.1%, and 61.1%, respectively (p = 0.001), with HR: 1.35 (95% CI; 1.10–1.65), p < 0.001. Peri-interventional blood loss was associated with a higher incidence of in-stent stenosis and revascularization 6–12 months after successful PCI in patients with AMI.