thoracic aortic disease
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Biomolecules ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. 128
Author(s):  
Keiichi Asano ◽  
Anna Cantalupo ◽  
Lauriane Sedes ◽  
Francesco Ramirez

About 20% of individuals afflicted with thoracic aortic disease have single-gene mutations that predispose the vessel to aneurysm formation and/or acute aortic dissection often without associated syndromic features. One widely studied exception is Marfan syndrome (MFS) in which mutations in the extracellular protein fibrillin-1 cause additional abnormalities in the heart, eyes, and skeleton. Mouse models of MFS have been instrumental in delineating major cellular and molecular determinants of thoracic aortic disease. In spite of research efforts, translating experimental findings from MFS mice into effective drug therapies for MFS patients remains an unfulfilled promise. Here, we describe a series of studies that have implicated endothelial dysfunction and improper angiotensin II and TGFβ signaling in driving thoracic aortic disease in MFS mice. We also discuss how these investigations have influenced the way we conceptualized possible new therapies to slow down or even halt aneurysm progression in this relatively common connective tissue disorder.


2022 ◽  
Vol 24 (1) ◽  
Author(s):  
Anastasia Fotaki ◽  
Camila Munoz ◽  
Yaso Emanuel ◽  
Alina Hua ◽  
Filippo Bosio ◽  
...  

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 < 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.


Author(s):  
Henry R. Holmes ◽  
Dan Neal ◽  
Kirsten Freeman ◽  
Eric Jeng ◽  
Martin Back ◽  
...  

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Demolder ◽  
L Muino-Mosquera ◽  
A Pini ◽  
A Evangelista ◽  
A Lopez-Sainz ◽  
...  

Abstract Background Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS) and related heritable thoracic aortic diseases (HTAD) are well-known for their aortic complications. Myocardial dysfunction and arrhythmia are less known in this setting but have been increasingly reported as additional causes of morbidity and mortality. Related to the rarity of the disorders, data on the prevalence of these features and clinical characteristics of the patients are difficult to obtain, calling for a multicentre initiative. Purpose To study the prevalence of myocardial dysfunction and arrhythmia in patients with HTAD and describe their clinical and genetic profile. Methods Nine centres from seven countries participated in this multicentre retrospective study. Medical records of patients 12 years or older carrying a (likely) pathogenic variant in the FBN1 gene, LDS genes (TGFBR1, TGFBR2, TGFB2, TGFB3 and SMAD3) or ACTA2 gene were screened. Patients presenting myocardial dysfunction and/or arrhythmia were identified, and clinical and genetic data were collected. Myocardial dysfunction included (a)symptomatic reduced ejection fraction (EF &lt;50% – HFrEF) or symptomatic preserved EF (HFpEF), as documented in the patient charts. Arrhythmias included atrial fibrillation or flutter (AF/AFL), ventricular tachycardia (VT), ventricular fibrillation (VF) and (aborted) sudden cardiac death (SCD) (presumed arrhythmogenic). Results In total, 3219 patients with HTAD were screened: 2761 with a variant in FBN1, 385 with a variant in one of the LDS genes (TGFBR1, TGFBR2, TGFB2, TGFB3 and SMAD3) and 73 carrying a variant in ACTA2. Myocardial dysfunction and arrhythmia were not reported in patients carrying an ACTA2 variant. Myocardial dysfunction was observed in patients with a variant in FBN1 and the LDS genes, without significant differences in prevalence (2.3% vs. 1.8%, p=0.563). Patients with a variant in the LDS genes presenting myocardial dysfunction were younger than patients carrying a variant in FBN1 (25±11 years vs. 39±17 years, p=0.034). The prevalence of VT/VF/SCD was similar in patients with a variant in one of the LDS genes compared to those with a variant in FBN1 (1.6% vs. 0.8%, p=0.132) and there was no difference in age at time of event (26±13 years vs. 33±14 years, p=0.289). Among patients with a variant in the LDS genes, the prevalence of VT/VF/SCD was highest in patients carrying a variant in the TGFBR2 gene and was significantly higher compared to patients with a variant in FBN1 (3.4% vs. 0.8%, p=0.017). In contrast, AF/AFL was significantly more often reported in patients with a variant in FBN1 compared to those with a variant in one of the LDS genes (1.7% vs. 0.3%, p=0.033). Conclusions Myocardial dysfunction and arrhythmia are rare features in patients with HTAD. They occur predominantly in patients with a variant in FBN1 and LDS genes, but were not reported in patients carrying a variant in the ACTA2 gene. Further analysis to identify other contributing factors is necessary. FUNDunding Acknowledgement Type of funding sources: None. Figure 1


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
J Rodriguez Ortuno ◽  
M L Pena Pena ◽  
J E Lopez Haldon ◽  
A Adsuar Gomez

Abstract Background Non-syndromic heritable thoracic aortic disease (nsHTAD) is an autosomal dominant disorder with high mortality rate if undetected. Familial evaluation could be useful to identify high-risk patients early. Purpose To assess the yield of clinical and genetic screening in a cohort of patients with suspected nsHTAD. Methods We collected clinical and genetic data about patients with suspected nsHTAD treated in a specialized clinic. Bicuspid aortic valve cases were excluded. Genetic study was performed with next-generation-sequencing, including at least 30 related genes. All first degree relatives were offered evaluation according to current guidelines. Results Twenty-five index cases were analysed (mean age: 48.3 years, male: 64%). Sixteen patients (64%) presented with acute aortic dissection (postmortem diagnosis was performed in 6 cases with sudden cardiac death). Hypertension was reported in 13 cases (52%) and 8 patients (32%) had smoking history. Family history of aortic aneurysm or dissection was identified in 13 cases (52%). Eighty-three first-degree relatives were evaluated. Clinically affected family members were detected in 10 families (40%). Genetic cause of the disease was identified in 6 families (24%). Table 1 describes main characteristics of index cases with pathogenic variants. Combined clinical and genetic screening was positive in 12 families (48%) and identified 24 relatives (29%) with aortic dilatation or carrier status for the disease. Conclusions The combination of clinical and genetic screening in suspected nsHTAD is a useful tool for early detection of the disease in family members at risk and for the prevention of future complications. FUNDunding Acknowledgement Type of funding sources: None. Table 1


2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S29-S29
Author(s):  
H Sadaf ◽  
B Zhao ◽  
L Lelenwa ◽  
L Buja ◽  
A Segura ◽  
...  

Abstract Introduction/Objective Sex disparity is reported across all forms of cardiovascular diseases. Only few studies have focused on sex differences in thoracic aortic disease pathology. We aim to identify and understand sex differences in this patient group to bridge the knowledge gap and improve clinicopathologic outcomes. Methods/Case Report This is a retrospective analysis of 83 proximal thoracic aortic aneurysm and dissection (TAAD) cases treated at a single quaternary care center in 2019. Chart review was done for demographics. Consensus criteria (Stone JR et al. Cardiovasc Pathol 2015; 24:267-78; Halushka MK et al. Cardiovasc Pathol 2016; 25:247-57) and a scoring system (Waters KM et al. Cardiovasc Pathol 2017; 30:6-11) were used for pathology reporting. Clinical correlation was also made. Pearson’s chi-square test was used for statistical analysis. Results (if a Case Study enter NA) 83 patients (61 male and 22 female) were retrieved. Overall thoracic aortopathy was higher among males, accounting for 73.4% of individuals with TAAD. In a subgroup analysis, there was no sex difference in dissection, aortic root involvement, and bicuspid aortic valve (p&gt;0.05). Genetic aortopathy was more prevalent in females than males (27.2% vs 9.8%, p=0.04) alongside early age at first aortic event (median age: 31y vs 52y). Histopathologically, females had frequent translamellar mucoid extracellular matrix accumulation (45.4% vs 22.9%, p=0.04), extensive (54.5% vs 27.8%, p=0.02) and severe (59% vs 34.4%, p=0.04) elastic fiber fragmentation, higher band like (9% vs 6.5%, p&gt;0.05) plus extensive (13.6% vs 4.9%, p&gt;0.05) smooth muscle nuclei loss, and extensive (13.6% vs 1.6%, p=0.01) plus dense (4.5% vs 1.6%, p&gt;0.05) laminar medial collapse than males. Conclusion In our patient population, females have a lower prevalence of thoracic aortic disease treated with open repair. However, those who develop TAAD harbor a greater burden of wall pathology and probable worse outcomes. We recommend sex-based analysis of all research on thoracic aortic diseases.


2021 ◽  
Vol 11 (3) ◽  
pp. 132-138
Author(s):  
Shreyas A. Bhave ◽  
Dongchuan Guo ◽  
Stoyan N. Angelov ◽  
Michael J. Bamshad ◽  
Deborah A. Nickerson ◽  
...  

Thoracic aortic aneurysms (TAAs) that progress to acute thoracic aortic dissections (TADs) are life-threatening vascular events that have been associated with altered transforming growth factor (TGF) β signaling. In addition to TAA, multiple genetic vascular disorders, including hereditary hemorrhagic telangiectasia (HHT), involve altered TGFβ signaling and vascular malformations. Due to the importance of TGFβ, genomic variant databases have been curated for activin receptor-like kinase 1 (ALK1) and endoglin (ENG). This case report details seven variants in SMAD4 that are associated with either heritable or early-onset aortic dissections and compares them to pathogenic exon variants in gnomAD v2.1.1. The TAA and TAD variants were identified through whole exome sequencing of 346 families with unrelated heritable thoracic aortic disease (HTAD) and 355 individuals with early-onset (age ≤ 56 years old) thoracic aortic dissection (ESTAD). An allele frequency filter of less than 0.05% was applied in the Genome Aggregation Database (gnomAD exome v2.1.1) with a combined annotation-dependent depletion score (CADD) greater than 20. These seven variants also have a higher REVEL score (>0.2), indicating pathogenic potential. Further in vivo and in vitro analysis is needed to evaluate how these variants affect SMAD4 mRNA stability and protein activity in association with thoracic aortic disease.


2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Kim C ◽  
◽  
Ziganshin BA ◽  
Zafar MA ◽  
Buntin J ◽  
...  

Objective: Thoracic Aortic Disease (TAD) is potentially lethal, yet difficult to detect as most patients are asymptomatic until the aneurysm dissects and becomes life threatening. Several clinical markers for TAD have been identified such as: bicuspid aortic valve, intracranial aortic aneurysm, bovine aortic arch, positive family history, and simple renal cysts. The aim of this study was to investigate the prevalence of Simple Hepatic Cysts (SHC) among individuals diagnosed with TAD in order to assess whether they can be used as a predictor of TAD. Methods: In this retrospective study, the prevalence of SHC for (n=1244) hospital patients treated for TAD was evaluated and compared to a control group of (n=809) patients. TAD patients were divided into four subgroups: ascending aneurysm (788; 63.3%; descending aneurysm (123; 9.9%); type A dissection (137; 11%); type B dissection (196; 15.8%). The presence of SHC was determined based on either computed tomography, magnetic resonance imaging, or ultrasound imaging of these patients. Results: Prevalence of SHC was 14.8%, 11.4%, 12.4%, and 14.8% in patients with ascending aneurysm, descending aneurysm, type A dissection, and type B dissection, respectively. Prevalence of SHC in the control group was 3.8% (p<0.001). The prevalence of SHC was not significantly different between males and females among the TAD patients as well as the control population. Conclusion: Individuals with TAD have an increased prevalence of SHC compared to individuals without TAD. SHC can potentially be used as a clinical marker to detect patients at risk for TAD.


2021 ◽  
Vol 5 (3) ◽  
Author(s):  
Cheng Chen

Objective: To explore the effect of aortic stent implantation on patients in the treatment of thoracic aortic diseases. Methods: Selected patients from Yunnan Fuwai Cardiovascular (YFC) Hospital as a sample group to carry out the study, the main participants were thoracic aortic aneurysm patients admitted from June 2020 to June 2021. The number of patients involved were 80. The patients are divided into two groups and different treatment methods were adopted. A comparative analysis of the effects of aortic stent placement on patients was conducted. Results: Before treatment, there was no significant difference in the levels of various inflammatory factors between the two groups of patients, P>0.05. After treatment, the data indicators of the two groups were significantly different, as there were significant differences in the surgical indicators among the two groups of patients, P<0.05. As a result, the experimental group had shorter operation time, less intraoperative blood loss, shorter ICU observation time, lower levels of inflammatory factors, and better results. Conclusion: In the treatment of patients with thoracic aortic disease, the application of aortic stent implantation has significant clinical effects and are more conducive to the recovery of patients. It can be promoted and used in clinical trials.


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