A European Delphi Consensus on the Management of Abdominal Aortic Aneurysms in Patients with Heritable Aortic Diseases.

Objective: Abdominal aortic aneurysm (AAA) in a patient with an underlying heritable aortic disease (HAD) is rare, and evidence based recommendations for its management are lacking. This study aimed to generate a consensus from multidisciplinary specialists on the diagnosis, treatment, and surveillance of AAA associated with HAD and to define topics of interest for future research.

Methods: A Delphi consensus was designed involving European multidisciplinary specialists and reported using the ACcurate COnsensus Reporting Document (ACCORD) reporting guideline.

Estimating nonlinear anisotropic properties of healthy and aneurysm ascending aortas using magnetic resonance imaging.

An ascending aortic aneurysm is an often asymptomatic localized dilatation of the aorta. Aortic rupture is a life-threatening event that occurs when the stress on the aortic wall exceeds its mechanical strength. Therefore, patient-specific finite element models could play an important role in estimating the risk of rupture.

Present and future of aortic risk assessment in patients with heritable thoracic aortic diseases.

Heritable thoracic aortic diseases (HTAD) are a group of diverse genetic conditions characterized by an increased risk of aortic complications. The standard surveillance of these patients involves monitoring aortic diameters until a defined threshold is reached, at which point preventive aortic surgery is recommended. However, assessing aortic risk in these patients is far more complex and, in many aspects, remains incompletely understood.

Beyond the root: Geometric characterization for the diagnosis of syndromic heritable thoracic aortic diseases.

Syndromic heritable thoracic aortic diseases (sHTAD), such as Marfan (MFS) or Loeys-Dietz (LDS) syndromes, involve high risk of life threatening aortic events. Diagnosis of syndromic features alone is difficult, and negative genetic tests do not necessarily exclude a genetic or hereditary condition. Periodic 3D imaging of the aorta is recommended in patients with aortic disease.

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Background: Mitral annular disjunction (MAD), posterior displacement of the mitral valve leaflet hinge point, predisposes to arrhythmias or sudden cardiac death. We evaluated the burden of MAD, mitral valve prolapse (MVP), and mitral regurgitation (MR) by heritable thoracic aortic disease gene in a cross-sectional analysis of 2014-2023 data in the Montalcino Aortic Consortium registry.

Methods And Results: MAD was determined by direct measurement of echocardiographic images.

Impact of valve-sparing aortic root replacement on aortic fluid dynamics and biomechanics in patients with syndromic heritable thoracic aortic disease.

Background: Patients with syndromic heritable thoracic aortic diseases (sHTAD) who underwent prophylactic aortic root replacement are at high risk of distal aortic events, but the underlying mechanisms remain unclear. This prospective, longitudinal study evaluates the impact of valve-sparing aortic root replacement (VSARR) on aortic fluid dynamics and biomechanics in these patients.

Methods: Sixteen patients with Marfan or Loeys-Dietz syndrome underwent two time-resolved three-dimensional phase-contrast cardiovascular magnetic resonance (4D flow CMR) studies before (sHTAD-preSx) and after VSARR (sHTAD-postSx).

Mitral Transcatheter Edge-to-Edge Repair and Clinical Value of Novel Echocardiographic Biomarkers: A Hypothesis-Generating Study.

Background: Longitudinal data on reverse cardiac remodeling and outcomes after transcatheter edge-to-edge repair (TEER) are limited.

Methods: A total of 78 patients with severe mitral regurgitation (MR) were included retrospectively. All patients had echocardiography at baseline and again six months after TEER.

Quantitative Computed Tomography Angiography for the Evaluation of Valvular Fibrocalcific Volume in Aortic Stenosis.

Background: Aortic stenosis (AS) is characterized by calcification and fibrosis. The ability to quantify these processes simultaneously has been limited with previous imaging methods.

Objectives: The purpose of this study was to evaluate the aortic valve fibrocalcific volume by computed tomography (CT) angiography in patients with AS, in particular, to assess its reproducibility, association with histology and disease severity, and ability to predict/track progression.

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Background: Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by heterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial septal defect, ventricular septal defect and cardiac valvular disease.

Atorvastatin Effect on Aortic Dilatation and Valvular Calcification Progression in Bicuspid Aortic Valve (BICATOR): A Randomized Clinical Trial.

Background: Ascending aorta dilation and aortic valve degeneration are common complications in patients with bicuspid aortic valve. Several retrospective studies have suggested the benefit of statins in reducing these complications. This study aimed to determine whether atorvastatin treatment is effective in reducing the growth of aortic diameters in bicuspid aortic valve and if it slows the progression of valve calcification.

Three-dimensional aortic geometry mapping via registration of non-gated contrast-enhanced or gated and respiratory-navigated MR angiographies.

Background: The measurement of aortic dimensions and their evolution are key in the management of patients with aortic diseases. Manual assessment, the current guideline-recommended method and clinical standard, is subjective, poorly reproducible, and time-consuming, limiting the capacity to track aortic growth in everyday practice. Aortic geometry mapping (AGM) via image registration of serial computed tomography angiograms outperforms manual assessment, providing accurate and reproducible 3D maps of aortic diameter and growth rate.

False lumen hemodynamics and partial thrombosis in chronic aortic dissection of the descending aorta.

Objectives: Partial thrombosis of the false lumen (FL) in patients with chronic aortic dissection (AD) of the descending aorta has been associated with poor outcomes. Meanwhile, the fluid dynamic and biomechanical characteristics associated with partial thrombosis remain to be elucidated. This retrospective, single-center study tested the association between FL fluid dynamics and biomechanics and the presence and extent of FL thrombus.

Versican accumulation drives Nos2 induction and aortic disease in Marfan syndrome via Akt activation.

Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening condition associated with Marfan syndrome (MFS), a disease caused by fibrillin-1 gene mutations. While various conditions causing TAAD exhibit aortic accumulation of the proteoglycans versican (Vcan) and aggrecan (Acan), it is unclear whether these ECM proteins are involved in aortic disease. Here, we find that Vcan, but not Acan, accumulated in Fbn1 aortas, a mouse model of MFS.

Impact of thoracic endovascular aortic repair following blunt traumatic thoracic aortic injury on blood pressure.

Background: Blunt traumatic thoracic aortic injuries (BTAIs) are associated with a high mortality rate. Thoracic endovascular aortic repair (TEVAR) is the most frequently used surgical strategy in patients with BTAI, as it offers good short- and middle-term results. Previous studies have reported an abnormally high prevalence of hypertension (HT) in these patients.

Pregnancy-related aortic complications in women with bicuspid aortic valve.

Objectives: To describe the aortic-related risks associated with pregnancy in women with bicuspid aortic valve (BAV) and to evaluate changes in aortic diameter in pregnancy.

Methods: Prospective observational study of patients with BAV from a single-site registry of pregnant women with structural heart disease between 2013 and 2020. Cardiac, obstetric and neonatal outcomes were studied.

Changes in echocardiographic parameters over time in paradoxical low-flow low-gradient aortic stenosis.

Aims: To assess the progression of the disease and evolution of the main echocardiographic variables for quantifying AS in patients with severe low-flow low-gradient (LFLG) AS compared to other severe AS subtypes.

Methods And Results: Longitudinal, observational, multicenter study including consecutive asymptomatic patients with severe AS (aortic valve area, AVA < 1.0 cm²) and normal left ventricle ejection fraction (LVEF ≥ 50%).

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.

Heritable thoracic aortic diseases (HTAD) are rare pathologies associated with thoracic aortic aneurysms and dissection, which can be syndromic or non-syndromic. They may result from genetic defects. Associated genes identified to date are classified into those encoding components of the (a) extracellular matrix (b) TGFβ pathway and (c) smooth muscle contractile mechanism.

Allopurinol blocks aortic aneurysm in a mouse model of Marfan syndrome via reducing aortic oxidative stress.

Background: Increasing evidence indicates that redox stress participates in MFS aortopathy, though its mechanistic contribution is little known. We reported elevated reactive oxygen species (ROS) formation and NADPH oxidase NOX4 upregulation in MFS patients and mouse aortae. Here we address the contribution of xanthine oxidoreductase (XOR), which catabolizes purines into uric acid and ROS in MFS aortopathy.

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials.

Background: Angiotensin receptor blockers (ARBs) and β blockers are widely used in the treatment of Marfan syndrome to try to reduce the rate of progressive aortic root enlargement characteristic of this condition, but their separate and joint effects are uncertain. We aimed to determine these effects in a collaborative individual patient data meta-analysis of randomised trials of these treatments.

Methods: In this meta-analysis, we identified relevant trials of patients with Marfan syndrome by systematically searching MEDLINE, Embase, and CENTRAL from database inception to Nov 2, 2021.

Machine learning for the automatic assessment of aortic rotational flow and wall shear stress from 4D flow cardiac magnetic resonance imaging.

Objective: Three-dimensional (3D) time-resolved phase-contrast cardiac magnetic resonance (4D flow CMR) allows for unparalleled quantification of blood velocity. Despite established potential in aortic diseases, the analysis is time-consuming and requires expert knowledge, hindering clinical application. The present research aimed to develop and test a fully automatic machine learning-based pipeline for aortic 4D flow CMR analysis.