Search

Abstract Thoracic aortic diseases (or aortopathies) result from complex interactions between genetic and hemodynamic factors. Often clinically silent, these diseases can lead to lethal complications such as aortic dissection or rupture. This study focused on a Brazilian cohort of 79 individuals with thoracic aortic diseases and explored genetic factors through targeted next-generation sequencing (tNGS) of 15 priority genes and FBN1 direct sequencing. The majority of individuals had nonsyndromic aortopathy, with eight diagnosed with Marfan syndrome (MFS). Pathogenic or likely pathogenic variants (PV/LPV) were found in five genes, namely, FBN1, ACTA2, TGFBR2, MYLK, and SMAD3. Notably, novel variants in FBN1 were identified that contributed to Marfan-like phenotypes. The diagnostic yield for isolated aortopathies was 7.1%, which increased to 55.5% for syndromic cases. Variants of uncertain significance (VUS) were identified, emphasizing the need for further research and familial investigations to refine variant classifications. This study provides valuable insights into the genetic landscape of aortopathies in Brazil, aiding early diagnosis and personalized management.

(1) Background: The aortic arch (AA) branching model is challenging, considering the multiple anatomical variations documented in existing research. The bovine aortic arch (BAA) is the most prevalent anatomical variation among these. This variant of AA branching has long been considered a nonsymptomatic malformation, having been discovered incidentally during imaging investigations for other causes. However, more recent studies have demonstrated that BAA shows a frequent association with coarctation of the aorta (CoA), thoracic aortic disease (TAD), and stroke. At the same time, given the current context of increasing activity in the fields of interventional and surgical procedures in the aorta and its branches, it is very important to know the medical–surgical implications of this anatomical variant. (2) Methods: We conducted a comprehensive review using PubMed and Embase, focusing specifically on randomized trials and cohort analyses that examined the medical–surgical implications of BAA. We assessed information related to studied groups, medical procedures, and study outcomes. Initially, we identified 8454 studies, and after rigorous evaluation, we narrowed down our review to 25 articles. (3) Discussions: The intervention consisted of assessing the risks associated with BAA through different imaging investigation methods such as computer tomographic angiography (CTA), magnetic resonance imaging (MRI), or ultrasonography (US). The following results were evaluated: the prevalence of the BAA, the importance of imaging investigations in establishing the diagnosis and the therapeutic management and monitoring the evolution of patients with the BAA, the association of the BAA with CoA, TAD, and stroke, and the potential risks of interventional treatment in patients with the BAA. (4) Conclusions: The prevalence of the BAA differs both between different ethnic groups and between genders. Advanced imaging methods such as CTA and 4D flow MRI allow detailed descriptions of supra-aortic vascular anatomy and information about blood flow velocities, direction, and turbulence in the AA. US remains an easy and valuable imaging investigation, with the potential to detect and correctly diagnose the BAA and its hemodynamic implications. Anatomical variations in the AA are associated with increased rates of TAD, CoA, and stroke, necessitating early diagnosis and increased supervision of patients with such incidentally observed abnormalities. In addition, there is a need to further develop and refine the surgical techniques used and personalize them to the individual characteristics of patients with the BAA. [ABSTRACT FROM AUTHOR]

Thoracic aortic disease (TAD) is often silent until a life-threatening complication occurs. However, genetic information can inform both identification and treatment at an early stage. Indeed, a diagnosis is important for personalised surveillance and intervention plans, as well as cascade screening of family members. Currently, only 20% of heritable TAD patients have a causative mutation identified and, consequently, further advances in genetic coverage are required to define the remaining molecular landscape. The rapid expansion of next generation sequencing technologies is providing a huge resource of genetic data, but a critical issue remains in functionally validating these findings. Induced pluripotent stem cells (iPSCs) are patient-derived, reprogrammed cell lines which allow mechanistic insights, complex modelling of genetic disease and a platform to study aortic genetic variants. This review will address the need for iPSCs as a frontline diagnostic tool to evaluate variants identified by genomic discovery studies and explore their evolving role in biological insight through to drug discovery.

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. [ABSTRACT FROM AUTHOR]

Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term 'hereditary thoracic aortic diseases'. The present review aims to summarize this very heterogeneous population's clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management. [ABSTRACT FROM AUTHOR]

An editorial is presented which expresses the views on the gender-related differences in cardiovascular care, emphasizing the continued prevalence of cardiovascular disease (CVD) as the leading cause of death in women. Topics include the heightened risks of CVD during pregnancy, challenges in managing cardiovascular issues in pregnant women, and the importance of multidisciplinary teams in tailoring care to address the unique needs of women with heart disease.

Abstract Background Both bicuspid aortic valve (BAV) and bovine aortic arch (BA) are considered as markers of thoracic aortic disease (TAD). But the association between them is not yet clear. This study aimed to explore the potential association of BAV and BA with TAD. Methods The study involved 449 participants who underwent their first aortic valve replacement in Fuwai Hospital from June 2017 to March 2018. All patients underwent multidetector computed tomography and echocardiography before surgery. The clinical characteristics were recorded to analyze the association between BAV, BA, and TAD. The univariate and multivariate logistic regression analyses were applied to identify the risk factors for TAD. Results BA accounted for 79.8% of the arch variants and was the most common aortic arch branching variant. BAV was present in 52.6% of the patients with BA and 38.1% of the patients with normal arch (NA). Among the 185 patients in the BAV subgroup, 50 had BA and 135 had NA. No significant differences were found in BAV anatomical phenotype, aortopathy phenotype, and valve function between BA and NA. The multivariate analysis showed that the presence of BAV and male sex were the risk predictors of TAD. BA was not a risk factor for TAD in either univariate or multivariate analysis. Conclusions The proportion of BAV in patients with BA was significantly higher than that of NA, but the BAV phenotype and aortopathy were not related to BA. BAV was a risk factor for TAD, whereas BA was not associated with TAD.

ObjectiveThe main purpose of this study was to evaluate the safety and efficacy of Castor single-branched stent-graft combined with fenestrated technique in treatment of thoracic aortic disease (TAD) with unfavorable proximal landing area (PLZ) and isolated left vertebral artery (ILVA).MethodsFrom January 2018 to March 2022, 8 patients with TAD (6 patients with type B aortic dissections, 1 patient with type B intramural hematomas, and 1 patient with thoracic aortic aneurysm) underwent thoracic endovascular aortic repair with fenestrated Castor stent-graft due to the existence of ILVA and unfavorable PLZ. Demographic characteristics, surgical details, postoperative complications, follow-up and postoperative CTA imaging results were collected and analyzed.ResultsThe primary technical success rate was 100%. The mean operation time was 115 min (range, 70–180 min). All the left subclavian arteries (LSAs) and ILVAs of the eight patients were revascularized by fenestrated Castor stent-grafts. During the follow-up period, no deaths and complications were observed. No internal leakage, aortic rupture, retrograde type A dissection were found on computed tomography angiography. All of the LSAs and ILVAs maintained patency without stenosis.ConclusionCastor single-branched stent-graft implantation combined with fenestration technique may be safe and feasible for TAD patients with ILVA and unfavorable PLZ.

BackgroundWe studied acute lung injury (ALI) in thoracic aortic disease (TAD) patients and investigated the predictive effect of interleukin-6 (IL-6) in acute lung injury after thoracic aortic disease.MethodsData on 188 TAD patients, who underwent surgery between January 2016 to December 2021 at our hospital, were enrolled in. We analyzed acute lung injury using two patient groups. Patients with No-ALI were 65 and those with ALI were 123. Univariate logistic, LASSO binary logistic regression model and multivariable logistic regression analysis were performed for acute lung injury.ResultsPreoperative IL-6 level was lower (15.80[3.10,43.30] vs. 47.70[21.40,91.60] pg/ml, p 18 pg/ml (area under the curve: AUC = 0.727). Univariate logistic regression analysis showed 19 features for TAD appeared to be early postoperative risk factors of acute lung injury. Using LASSO binary logistic regression, 19 features were reduced to 9 potential predictors (i.e., Scrpost + PLTpost + CPB > 182 min + D-dimerpost + D-dimerpre + Hypertension + Age > 58 years + IL6 > 18 pg/ml + IL6). Multivariable logistic regression analysis showed that Postoperative creatinine, CPB > 182 min and IL-6 > 18 pg/ml were early postoperative risk factors for ALI after TAD, and the odds ratios (ORs) of postoperative creatinine, CPB > 182 min and IL-6 > 18 pg/ml were 1.006 (1.002–1.01), 4.717 (1.306–19.294) and 2.96 (1.184–7.497), respectively. When postoperative creatinine, CPB > 182 min and IL-6 > 18 pg/ml (AUC = 0.819), the 95% confidence interval [CI] was 0.741 to 0.898. Correction curves were nearly diagonal, suggesting that the nomogram fit well. The DCA curve was then drawn to demonstrate clinical applicability. The DCA curve showed that the threshold probability of a patient is in the range of 30% to 90%.ConclusionsThe inclusion of interleukin-6 demonstrated good performance in predicting ALI after TAD surgery.

Background: Both bicuspid aortic valve (BAV) and bovine aortic arch (BA) are considered as markers of thoracic aortic disease (TAD). But the association between them is not yet clear. This study aimed to explore the potential association of BAV and BA with TAD. Methods: The study involved 449 participants who underwent their first aortic valve replacement in Fuwai Hospital from June 2017 to March 2018. All patients underwent multidetector computed tomography and echocardiography before surgery. The clinical characteristics were recorded to analyze the association between BAV, BA, and TAD. The univariate and multivariate logistic regression analyses were applied to identify the risk factors for TAD. Results: BA accounted for 79.8% of the arch variants and was the most common aortic arch branching variant. BAV was present in 52.6% of the patients with BA and 38.1% of the patients with normal arch (NA). Among the 185 patients in the BAV subgroup, 50 had BA and 135 had NA. No significant differences were found in BAV anatomical phenotype, aortopathy phenotype, and valve function between BA and NA. The multivariate analysis showed that the presence of BAV and male sex were the risk predictors of TAD. BA was not a risk factor for TAD in either univariate or multivariate analysis. Conclusions: The proportion of BAV in patients with BA was significantly higher than that of NA, but the BAV phenotype and aortopathy were not related to BA. BAV was a risk factor for TAD, whereas BA was not associated with TAD. [ABSTRACT FROM AUTHOR]

Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management.

ObjectiveTo present our experience of preserving the isolated left vertebral artery (ILVA) with physician-modified fenestration (PM-F) or in situ fenestration (ISF) during thoracic endovascular aortic repair (TEVAR) for aortic pathologies involving aortic arch.MethodsThis is a single-center, retrospective, observational cohort study. Between June 2016 and December 2021, 9 patients (8 men; median age 60.0 years old) underwent TEVAR with ILVA reconstruction (PM-F, n = 6; ISF, n = 3) were identified and analyzed.ResultsThe technical success rate was 100%. No early (

Abstract Background The application of cardiovascular magnetic resonance angiography (CMRA) for the assessment of thoracic aortic disease is often associated with prolonged and unpredictable acquisition times and residual motion artefacts. To overcome these limitations, we have integrated undersampled acquisition with image-based navigators and inline non-rigid motion correction to enable a free-breathing, contrast-free Cartesian CMRA framework for the visualization of the thoracic aorta in a short and predictable scan of 3 min. Methods 35 patients with thoracic aortic disease (36 ± 13y, 14 female) were prospectively enrolled in this single-center study. The proposed 3D T2-prepared balanced steady state free precession (bSSFP) sequence with image-based navigator (iNAV) was compared to the clinical 3D T2-prepared bSSFP with diaphragmatic-navigator gating (dNAV), in terms of image acquisition time. Three cardiologists blinded to iNAV vs. dNAV acquisition, recorded image quality scores across four aortic segments and their overall diagnostic confidence. Contrast ratio (CR) and relative standard deviation (RSD) of signal intensity (SI) in the corresponding segments were estimated. Co-axial aortic dimensions in six landmarks were measured by two readers to evaluate the agreement between the two methods, along with inter-observer and intra-observer agreement. Kolmogorov–Smirnov test, Mann–Whitney U (MWU), Bland–Altman analysis (BAA), intraclass correlation coefficient (ICC) were used for statistical analysis. Results The scan time for the iNAV-based approach was significantly shorter (3.1 ± 0.5 min vs. 12.0 ± 3.0 min for dNAV, P = 0.005). Reconstruction was performed inline in 3.0 ± 0.3 min. Diagnostic confidence was similar for the proposed iNAV versus dNAV for all three reviewers (Reviewer 1: 3.9 ± 0.3 vs. 3.8 ± 0.4, P = 0.7; Reviewer 2: 4.0 ± 0.2 vs. 3.9 ± 0.3, P = 0.4; Reviewer 3: 3.8 ± 0.4 vs. 3.7 ± 0.6, P = 0.3). The proposed method yielded higher image quality scores in terms of artefacts from respiratory motion, and non-diagnostic images due to signal inhomogeneity were observed less frequently. While the dNAV approach outperformed the iNAV method in the CR assessment, the iNAV sequence showed improved signal homogeneity along the entire thoracic aorta [RSD SI 5.1 (4.4, 6.5) vs. 6.5 (4.6, 8.6), P = 0.002]. BAA showed a mean difference of

To provide an adequate proximal landing zone, left subclavian artery (LSA) reconstruction has become an important part of thoracic endovascular aortic repair (TEVAR). This study evaluates the short and medium term efficacy of a novel unibody single-branched stent graft for zone 2 TEVAR. Fifty-two patients (mean age, 56 ± 10.9 years; 42 men) with distal aortic arch lesions requiring LSA reconstruction received unibody single-branched stents from September 2019 to March 2021. Computed tomography angiography was performed 6, 12, and 24 months after surgery to observe stent morphology, branch patency, endoleaks, stent-related adverse events, and changes in the diameter of true and false lumens. All stents were deployed adequately, and the technical success rate was 100%. The mean operation time was 121.8 ± 47.0 min. The mean postoperative hospital stay was 6.2 ± 3.7 days, and the mean follow-up was 16.8 ± 5.2 months (range, 12–24 months). During follow-up, there were no deaths and complications such as stent displacement or fracture, stenosis, fracture, occlusion, and type Ia endoleaks. The patency rate of the branched segment was 100%. In 42 patients with aortic dissection (AD), the true lumen diameter of the aortic isthmus was 29.4 ± 2.9 mm after surgery, significantly larger than before surgery (20.6 ± 5.4 mm, P < 0.05). Postoperative aortic isthmus false lumen diameter was significantly smaller than that before operation (6.1 ± 5.2 mm vs. 16.0 ± 7.6 mm, P < 0.05). The new unibody single-branched stent for zone 2 TEVAR is safe and accurate, and its efficacy is good in the short and medium term.

Abstract Background Left subclavian artery revascularization (LSA) is frequently performed in the setting of thoracic endovascular repair (TEVAR). The purpose of this study was to compare different techniques for LSA revascularization during TEVAR. Methods We performed a single center’s retrospective cohort study from 2016 to 2019. Patients were categorized by LSA revascularization methods, including direct coverage without revascularization (Unrevascularized), carotid-subclavian bypass (CSB), fenestrated TEVAR (F-TEVAR). Indications, demographics, operation details, and outcomes were analyzed using standard statistical analysis. Results 171 patients underwent TEVAR with LSA coverage, 16.4% (n = 28) were unrevascularized and the remaining patients underwent CSB (n = 100 [58.5%]) or F-TEVAR (n = 43 [25.1%]). Demographics were similar between the unrevascularized and revascularized groups, except for procedure urgent status (p = 0.005). The incidence of postoperative spinal cord ischemia was significantly higher between unrevascularized and revascularized group (10.7% vs. 1.4%; p = 0.032). There was no difference in 30-day and mid-term rates of mortality, stroke, and left upper extremity ischemia. CSB was more likely time-consuming than F-TEVAR [3.25 (2.83–4) vs. 2 (1.67–2.67) hours, p = 0], but there were no statistically significant differences in 30-day or midterm outcomes for CSB versus F-TEVAR. During a mean follow-up time of 24.8 months, estimates survival rates had no difference. Conclusions LSA revascularization in zone 2 TEVAR is necessary which is associated with a low 30-day rate of spinal cord ischemia. When LSA revascularization is required during TEVAR, CSB and F-TEVAR are all safe and effective methods, and F-TEVAR appears to offer equivalent clinical outcomes as a less time-consuming and minimally invasive alternative.

Despite the recent technical developments, surgery on the thoracic aorta remains challenging and is associated with significant mortality and morbidity. Decisions about when and if to operate are based on a balance between surgical risk and the hazard of aortic rupture. These decisions are sometimes difficult in elective cases of thoracic aortic diseases, including aneurysms and dissections. Abnormal wall stress derived from flow alterations influences disease progression. Therefore, a better understanding of the complex hemodynamic environment inside the aortic lumen will facilitate patient-specific risk assessments of complications, which enable clinicians to provide timely prophylactic interventions. Time-resolved 3D phase-contrast (4D flow) MRI has many advantages for the in vivo assessment of flow dynamics. Recent developments in 4D flow imaging techniques has led to significant advances in our understanding of physiological flow dynamics in healthy subjects and patients with thoracic aortic diseases. In this clinically focused review of thoracic aortic diseases, we demonstrate the clinical advances acquired with 4D flow MRI from published studies. We provide a systematic overview of key evidences and considerations regarding normal thoracic aortas, thoracic aortic aneurysms, aortic dissections, and thoracic aortas with prosthetic graft replacement. [ABSTRACT FROM AUTHOR]

Thoracic aortic aneurysms are silent yet deadly clinical entities which may elude detection until an acutely life-threatening aortic dissection or rupture occurs. Approximately 20% of patients with thoracic aortic aneurysms or dissection have a positive family history, indicating a strong genetic component to the aetiology. Genetic screening in such hereditary thoracic aortic disease (HTAD) may thus be beneficial in detecting causative genetic mutations in affected patients, identifying asymptomatic family members who may be at risk, and in guiding the optimal timing of preventative surgery in those with confirmed genetic aortopathy. Genetic screening can facilitate personalised aortic care tailored to an individual's specific genetic abnormality, with the aim of mitigating the significant morbidity burden and premature mortality associated with HTAD. This review examines the rationale for genetic screening in HTAD, its potential applications, current limitations and potential future directions. [ABSTRACT FROM AUTHOR]

Background: The application of cardiovascular magnetic resonance angiography (CMRA) for the assessment of thoracic aortic disease is often associated with prolonged and unpredictable acquisition times and residual motion artefacts. To overcome these limitations, we have integrated undersampled acquisition with image-based navigators and inline non-rigid motion correction to enable a free-breathing, contrast-free Cartesian CMRA framework for the visualization of the thoracic aorta in a short and predictable scan of 3 min. Methods: 35 patients with thoracic aortic disease (36 ± 13y, 14 female) were prospectively enrolled in this single-center study. The proposed 3D T2-prepared balanced steady state free precession (bSSFP) sequence with image-based navigator (iNAV) was compared to the clinical 3D T2-prepared bSSFP with diaphragmatic-navigator gating (dNAV), in terms of image acquisition time. Three cardiologists blinded to iNAV vs. dNAV acquisition, recorded image quality scores across four aortic segments and their overall diagnostic confidence. Contrast ratio (CR) and relative standard deviation (RSD) of signal intensity (SI) in the corresponding segments were estimated. Co-axial aortic dimensions in six landmarks were measured by two readers to evaluate the agreement between the two methods, along with inter-observer and intra-observer agreement. Kolmogorov–Smirnov test, Mann–Whitney U (MWU), Bland–Altman analysis (BAA), intraclass correlation coefficient (ICC) were used for statistical analysis. Results: The scan time for the iNAV-based approach was significantly shorter (3.1 ± 0.5 min vs. 12.0 ± 3.0 min for dNAV, P = 0.005). Reconstruction was performed inline in 3.0 ± 0.3 min. Diagnostic confidence was similar for the proposed iNAV versus dNAV for all three reviewers (Reviewer 1: 3.9 ± 0.3 vs. 3.8 ± 0.4, P = 0.7; Reviewer 2: 4.0 ± 0.2 vs. 3.9 ± 0.3, P = 0.4; Reviewer 3: 3.8 ± 0.4 vs. 3.7 ± 0.6, P = 0.3). The proposed method yielded higher image quality scores in terms of artefacts from respiratory motion, and non-diagnostic images due to signal inhomogeneity were observed less frequently. While the dNAV approach outperformed the iNAV method in the CR assessment, the iNAV sequence showed improved signal homogeneity along the entire thoracic aorta [RSD SI 5.1 (4.4, 6.5) vs. 6.5 (4.6, 8.6), P = 0.002]. BAA showed a mean difference of < 0.05 cm across the 6 landmarks between the two datasets. ICC showed excellent inter- and intra-observer reproducibility. Conclusions: Thoracic aortic iNAV-based CMRA with fast acquisition (~ 3 min) and inline reconstruction (3 min) is proposed, resulting in high diagnostic confidence and reproducible aortic measurements. [ABSTRACT FROM AUTHOR]

Chronic cough has a broad differential, and thoracic aortic aneurysm (TAA) is a rare but potentially life-threatening etiology. We present a giant arch TAA in a non-dyspneic, Pacific Islander man with significant tobacco-use history who presented with chronic cough with no acute pulmonary process noted on imaging. Given the high mortality rates associated with thoracic aortic aneurysms, the purpose of this report is to highlight the importance of keeping TAA as a rare differential for chronic cough, particularly when caring for patients with elevated risk. Recognition of patients with thoracic aortic disease who have a class I indication for surgical intervention (meaning there is evidence or general agreement that surgery will be beneficial, useful, and effective) as well as prompt evaluation of their anatomical landmarks in the perioperative period is critical. Imaging and, in particular, computed tomography remain the optimal modalities to screen for thoracic aortic disease. [ABSTRACT FROM AUTHOR]

Open in new tab Download slide Open in new tab Download slide The aim of this study was to investigate whether the 'bovine' arch [i.e. arch variant with a common origin of the innominate and left carotid artery (CILCA)] is associated with an increased risk of thoracic aortic disease (TAD). The study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The PubMed, EMBASE and Cochrane databases were searched to identify all case series reporting about CILCA arch and TAD between January 2008 and December 2018. A total of 485 studies were screened. The prevalence of CILCA arch was assessed, and data analysis was performed considering the difference in the risk of TAD for presence versus absence of CILCA arch. Eight studies enrolling 11 381 subjects were retrieved for quantitative analysis. The proportion of TAD among CILCA arch patients was higher [41.5% (28.1–56.4)] than the proportion among patients with standard arch configuration 34.0% (20.1–51.4). The odds ratio of developing TAD was 1.4 times higher in subjects with CILCA arch (95% confidence interval 1.068–1.839). The test for an overall effect indicated a significant association between CILCA arch and TAD (P  < 0.015). The I 2 was 78.1% with a value of P < 0.001 for heterogeneity. The Egger test did not show evidence of publication bias (P  = 0.317). In conclusion, our meta-analysis supports the hypothesis of a correlation between the presence of CILCA arch and the onset of TAD. Our results warrant a specific and long-term surveillance for patients with this anatomical variant, and a thorough awareness of its potential clinical implications during image interpretation. [ABSTRACT FROM AUTHOR]

Thoracic aortic disease (TAD) is often silent until a life-threatening complication occurs. However, genetic information can inform both identification and treatment at an early stage. Indeed, a diagnosis is important for personalised surveillance and intervention plans, as well as cascade screening of family members. Currently, only 20% of heritable TAD patients have a causative mutation identified and, consequently, further advances in genetic coverage are required to define the remaining molecular landscape. The rapid expansion of next generation sequencing technologies is providing a huge resource of genetic data, but a critical issue remains in functionally validating these findings. Induced pluripotent stem cells (iPSCs) are patient-derived, reprogrammed cell lines which allow mechanistic insights, complex modelling of genetic disease and a platform to study aortic genetic variants. This review will address the need for iPSCs as a frontline diagnostic tool to evaluate variants identified by genomic discovery studies and explore their evolving role in biological insight through to drug discovery., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Singh, Shetty, Jacob, Bayraktar and Sinha.)

View large Download slide View large Download slide OBJECTIVES Our goal was to identify anatomical and physiological factors that could predict the amount of cerebrospinal fluid (CSF) drainage in patients undergoing elective endovascular repair of descending thoracic and thoracoabdominal aortic disease. METHODS All consecutive elective endovascular procedures performed for descending thoracic or thoracoabdominal aortic disease between January 2015 and December 2017 were included in the study. Routine use of CSF drainage was established in all patients. The goal of drainage was to reach a spinal fluid pressure of 10–12 mmHg by draining in 5–15-ml aliquots. The number of visible intercostal and lumbar segmental arteries (SAs) was evaluated before and after endovascular repair. The covering ratio of SAs was calculated as covered preoperative SAs/total preoperative SAs. RESULTS Twenty-four consecutive patients were included in the final analysis. The indication for the intervention was a descending thoracic aneurysm in 13 cases, a thoracoabdominal aneurysm in 4 cases and a chronic type B dissection in 7 cases. The procedure performed was thoracic endovascular aortic repair in 20 cases and fenestrated endovascular aneurysm repair in 4 cases. None of the patients developed spinal cord ischaemia. The mean volume of CSF drained was 46 ml. The mean length of aortic coverage was 231 mm. The mean number of total preoperative SAs and of covered preoperative SAs was, respectively, 22 and 9. The volume of CSF drained was significantly correlated with all these variables (length of aortic coverage, total visible SAs and covered SAs), but the most powerful correlation was individuated with the covering ratio of SAs. CONCLUSIONS Our findings suggest that the percentage of intercostal and lumbar SAs covered by placement of a stent graft can predict the volume of CSF drained in patients undergoing elective endovascular repair of descending thoracic and thoracoabdominal aortic disease. [ABSTRACT FROM AUTHOR]

The impact of sex on outcomes of thoracic endovascular aortic repair (TEVAR) represents an area of increased interest over the last decade, and long-term data are lacking. The aim of the present study was to investigate sex-related differences in long-term outcomes after TEVAR using real-world data from the Global Registry for Endovascular Aortic Treatment. Data were obtained retrospectively after querying the multicenter, sponsored Global Registry for Endovascular Aortic Treatment. Patients treated with TEVAR between December 2010 and January 2021 were selected regardless of the type of thoracic aortic disease. The primary outcome was sex-specific all-cause mortality at 5 years and maximum follow-up. Secondary outcomes were sex-specific all-cause mortality at 30 days and 1 year, and aorta-related mortality, major adverse cardiac events, neurological complications, and device-related complications or reinterventions at 30 days, 1 year, 5 years, and maximum follow-up. A total of 805 patients were analyzed; 535 (66.5%) were males. Females were older (median, 66 years [interquartile range (IQR), 57-75 years] vs 69 years [IQR, 59-78 years], P <.001). Males had more frequently a history of coronary artery bypass grafting and renal insufficiency (8.7% vs 3.7% [ P =.010] and 22.4% vs 11.6% [ P <.001]). The median follow-up was 3.46 years (IQR, 1.49-4.99 years) for males and 3.18 years (IQR, 1.29-4.86 years) for females. Indications for TEVAR were mostly descending thoracic aortic aneurysms (n = 307 [38.1%]) type B aortic dissections (n = 250 [31.1%]) or others (n = 248 [30.8%]). Freedom from 5-year all-cause mortality was similar for males and females (67% [95% CI, 62.1-72.2] vs 65.9% [95% CI, 58.5-74.2]; P =.847), and there were no differences in secondary outcomes. Multivariable Cox regression showed females to have lower all-cause mortality rates; however, this difference did not reach statistical significance (hazard ratio, 0.97; 95% CI, 0.72-1.30; P =.834). Additional subgroup analyses based on the indication for TEVAR did not identify differences between both sexes for the primary and secondary outcomes except more endoleak type II in females with complicated type B aortic dissection (1.8% vs 12.1%; P =.023). The present analysis suggests that long-term outcomes of TEVAR performed irrespective of the type of aortic disease are similar for males and females. Further studies are needed to clarify existing controversies regarding the impact of sex on outcomes of TEVAR. [ABSTRACT FROM AUTHOR]

OBJECTIVES: Cerebral malperfusion for patients with acute type A aortic dissection (AAAD) remains an unsolved problem. The present study aimed to evaluate our management of cerebral perfusion and identify predictors of perioperative cerebral malperfusion in patients undergoing surgical repair of AAAD. METHODS: Between January 2004 and December 2015, 137 consecutive patients with AAAD underwent aortic replacement at Tsuchiya General Hospital. The status of the dissected supra-aortic branch vessels (SABVs) was classified as patent or thrombosis by preoperative computed tomographic angiography. Intraoperative cerebral perfusion was monitored by transcutaneous carotid echo and regional oxygen saturation. In cases with neurological symptoms or cerebral malperfusion, quick cerebral perfusion was immediately started using a quick cutdown technique. We assessed clinical outcomes, including mortality and complications, and analysed predictors of early mortality and cerebral malperfusion. RESULTS: The early mortality rate was 8.0%. Postoperative cerebral injury was observed in 4 patients (2.9%). Nineteen patients had perioperative cerebral malperfusion. There were no postoperative cerebral injuries in the patients in whom intraoperative cerebral malperfusion was corrected. Multivariable analysis revealed that preoperative shock (odds ratio [OR] 22.60, P < 0.0001) and extension of dissection to the abdominal aorta (OR 9.31, P = 0.0064) were significant risk factors for early mortality. Preoperative neurological symptoms (OR 12.40, P = 0.0006) and partial or complete thrombosis of the SABV (OR 64.10, P < 0.0001) were identified as independent predictors of perioperative cerebral malperfusion. CONCLUSIONS: Perioperative cerebral perfusion should be carefully managed, especially in the patients with preoperative neurological symptoms or partial or complete thrombosis of the SABV. [ABSTRACT FROM AUTHOR]

Dilatation of the thoracic or abdominal aorta can progress to dissection or rupture with significant associated morbidity and mortality. Aortic disease remains a treatable contributor to mortality in the US and its burden is likely underestimated. Recent clinical studies have uncovered sex and gender distinctions in the epidemiology, pathophysiology, and outcomes of aortic disease. Despite this, there has been little progress in the application of these findings to clinical practice. Improved understanding of the sex-specific mechanisms of aortic disease may inform personalized indications for elective repair and thus reduce the morbidity of aortic catastrophe. The objective of this review is to summarize known clinical and biological sex differences in both thoracic and abdominal aortic disease and highlight promising areas for future investigation., Competing Interests: Disclosure: The authors have no conflicts of interest to declare., (Copyright © The Author(s), 2023. Published by Radcliffe Group Ltd.)

Objective: The main purpose of this study was to evaluate the safety and efficacy of Castor single-branched stent-graft combined with fenestrated technique in treatment of thoracic aortic disease (TAD) with unfavorable proximal landing area (PLZ) and isolated left vertebral artery (ILVA)., Methods: From January 2018 to March 2022, 8 patients with TAD (6 patients with type B aortic dissections, 1 patient with type B intramural hematomas, and 1 patient with thoracic aortic aneurysm) underwent thoracic endovascular aortic repair with fenestrated Castor stent-graft due to the existence of ILVA and unfavorable PLZ. Demographic characteristics, surgical details, postoperative complications, follow-up and postoperative CTA imaging results were collected and analyzed., Results: The primary technical success rate was 100%. The mean operation time was 115 min (range, 70-180 min). All the left subclavian arteries (LSAs) and ILVAs of the eight patients were revascularized by fenestrated Castor stent-grafts. During the follow-up period, no deaths and complications were observed. No internal leakage, aortic rupture, retrograde type A dissection were found on computed tomography angiography. All of the LSAs and ILVAs maintained patency without stenosis., Conclusion: Castor single-branched stent-graft implantation combined with fenestration technique may be safe and feasible for TAD patients with ILVA and unfavorable PLZ., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Wang, Fang, Song, Wei, Meng, Bai, Liu and Zhao.)

Background: We studied acute lung injury (ALI) in thoracic aortic disease (TAD) patients and investigated the predictive effect of interleukin-6 (IL-6) in acute lung injury after thoracic aortic disease., Methods: Data on 188 TAD patients, who underwent surgery between January 2016 to December 2021 at our hospital, were enrolled in. We analyzed acute lung injury using two patient groups. Patients with No-ALI were 65 and those with ALI were 123. Univariate logistic, LASSO binary logistic regression model and multivariable logistic regression analysis were performed for acute lung injury., Results: Preoperative IL-6 level was lower (15.80[3.10,43.30] vs. 47.70[21.40,91.60] pg/ml, p  < 0.001) in No-ALI group than in ALI group. The cut-off points, determined by the ROC curve, were preoperative IL-6 > 18 pg/ml (area under the curve: AUC = 0.727). Univariate logistic regression analysis showed 19 features for TAD appeared to be early postoperative risk factors of acute lung injury. Using LASSO binary logistic regression, 19 features were reduced to 9 potential predictors (i.e., Scrpost + PLTpost + CPB > 182 min + D-dimerpost + D-dimerpre + Hypertension + Age > 58 years + IL6 > 18 pg/ml + IL6). Multivariable logistic regression analysis showed that Postoperative creatinine, CPB > 182 min and IL-6 > 18 pg/ml were early postoperative risk factors for ALI after TAD, and the odds ratios (ORs) of postoperative creatinine, CPB > 182 min and IL-6 > 18 pg/ml were 1.006 (1.002-1.01), 4.717 (1.306-19.294) and 2.96 (1.184-7.497), respectively. When postoperative creatinine, CPB > 182 min and IL-6 > 18 pg/ml (AUC = 0.819), the 95% confidence interval [CI] was 0.741 to 0.898. Correction curves were nearly diagonal, suggesting that the nomogram fit well. The DCA curve was then drawn to demonstrate clinical applicability. The DCA curve showed that the threshold probability of a patient is in the range of 30% to 90%., Conclusions: The inclusion of interleukin-6 demonstrated good performance in predicting ALI after TAD surgery., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Li, Feng, Wang, Li, Zhu, Sun and Wu.)

Two guidelines from the American College of Cardiology (ACC), the American Heart Association (AHA), and collaborating societies address the risk of aortic dissection in patients with bicuspid aortic valves and severe aortic enlargement: The “2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease” ( J Am Coll Cardiol . 2010;55:e27-130) and the “2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease” ( J Am Coll Cardiol . 2014;63:e57-185). However, the 2 guidelines differ with regard to the recommended threshold of aortic root or ascending aortic dilatation that would justify surgical intervention in patients with bicuspid aortic valves. The ACC and AHA therefore convened a subcommittee representing members of the 2 guideline writing committees to review the evidence, reach consensus, and draft a statement of clarification for both guidelines. This statement of clarification uses the ACC/AHA revised structure for delineating the Class of Recommendation and Level of Evidence to provide recommendations that replace those contained in Section 9.2.2.1 of the thoracic aortic disease guideline and Section 5.1.3 of the valvular heart disease guideline. [ABSTRACT FROM AUTHOR]