Profound Aortopathy: A Rare Case of Massive Ascending and Descending Aortic Aneurysms, Type B Aortic Dissection, and Severe Aortic Valve Regurgitation in an Adult Patient With Uncorrected Congenital Aortic Coarctation.
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ABSTRACT:
SUBMITTER: Belin RJ
PROVIDER: S-EPMC6058279 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
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Profound Aortopathy: A Rare Case of Massive Ascending and Descending Aortic Aneurysms, Type B Aortic Dissection, and Severe Aortic Valve Regurgitation in an Adult Patient With Uncorrected Congenital Aortic Coarctation.
Belin Rashad J RJ Zoretic Jessie Aw JA Carr James J Huffman Mark D MD Russell Hyde H Thomas James J
CASE (Philadelphia, Pa.) 20170901 5
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Project description:ObjectiveTo evaluate expansion of degenerative thoracic aortic aneurysms (TAAs) and compare results between ascending and descending TAAs.MethodsAmong patients with diagnosis of degenerative TAA (1995-2015) in Olmsted County, we studied those having at least 2 computed tomography scans of TAA throughout the follow-up. Patients were classified as ascending or descending groups according to the segment where the maximal aortic diameter was measured. Primary end points were expansion rates and factors associated with TAA growth.ResultsWe investigated 137 patients, 70 (51.1%) of whom were women; 78 (56.9%) were in the ascending and 59 (43.1%) were in the descending group. Median baseline maximal aortic diameter was 48.5 mm (interquartile range, 47.0-49.9 mm) for ascending and 42.4 mm (interquartile range, 40.0-45.4 mm) for descending group (P < .001). Median expansion rate was higher in the descending than the ascending group (2.0 mm/year [interquartile range, 0.9-3.2 mm/year] vs 0.2 mm/year [IQR, 0.1-0.6 mm/year]; P < .001). Aneurysm in the descending aorta and larger baseline maximal aortic diameter were independently associated with TAA expansion. Advanced age and chronic obstructive pulmonary disease but not aneurysm size or location were independently associated with overall mortality (P < .05). Aneurysm in the descending aorta was associated with aortic-related events (P < .05).ConclusionsDegenerative TAAs under surveillance expand slowly. Descending TAA and larger baseline maximal aortic diameter were independently associated with more rapid TAA expansion, but these factors did not influence all-cause mortality.
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Project description:Thoracic Aortic Aneurysm (TAA) is characterized by the dilation of the aorta and is fatal if not diagnosed and treated appropriately. The underlying genetic mechanisms have not been completely delineated, so better knowledge of the physiopathology of TAAs is needed to improve detection and therapy. MicroRNAs (miRNAs) regulate gene expression post-transcriptionally and are known to be involved in cardiovascular diseases (CVDs). The current study aimed to identify miRNAs that can be used as possible biomarkers for the early diagnosis of patients with ascending TAAs (ATAAs). MiRNA expression was profiled by NanoString nCounter technology using 12 samples including tissue and pre- and post-surgical plasma from ATAA patients. Four miRNAs were selected and further validated by real time polymerase chain reaction (RT-PCR) in 22 plasma samples from which three miRNAs (hsa-miR140-5p, hsa-miR-191-5p and hsa-miR-214-3p) showed significant expression level differences between the two types of plasma samples. Further analyses of the corresponding predicted target genes by these miRNAs, revealed two genes (Myotubularin-related protein 4 (MTMR4) and Phosphatase 1 catalytic subunit β (PPP1CB)) whose expression was inversely correlated with the expression of their respective miRNAs. Overall, in this pilot study, we identified three miRNAs that might serve as potential biomarkers and therapeutic targets in ATAA.
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Project description:Objective: We sought to evaluate the outcomes of integrated aortic-valve and ascending-aortic replacement (IR) vs. partial replacement (PR) in patients with bicuspid aortic valve (BAV)-related aortopathy. Methods: We compared long-term mortality, reoperation incidence, and the cumulative incidence of stroke, bleeding, significant native valve or prosthetic valve dysfunction, and the New York Heart Association (NYHA) functional classes II-IV between inverse probability-weighted cohorts of patients who underwent IR or PR for BAV-related aortopathy in a single center from 2002 to 2019. Patients were stratified into different aortic diameter groups ("valve type" vs. "aorta type"). Results: Among patients with "valve type," aortic valve replacement in patients with an aortic diameter > 40 mm was associated with significantly higher 10-year mortality than IR compared with diameter 35-40 mm [17.49 vs. 5.28% at 10 years; hazard ratio (HR), 3.22; 95% CI, 1.52 to 6.85; p = 0.002]. Among patients with "aorta type," ascending aortic replacement in patients with an aortic diameter 52-60 mm was associated with significantly higher 10-year mortality than IR compared with diameter 45-52 mm (14.49 vs. 1.85% at 10 years; HR, 0.04; 95% CI, 1.06 to 85.24; p = 0.03). Conclusion: The long-term mortality and reoperation benefit that were associated with IR, as compared with PR, minimizing to 40 mm of the aortic diameter among patients with "valve type" and minimizing to 52 mm of the aortic diameter among patients with "aorta type." Trial Registration: Treatment to Bicuspid Aortic Valve Related Aortopathy (BAVAo Registry): ChiCTR.org.cn no: ChiCTR2000039867.
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Project description:There has been increasing evidence that ascending thoracic aortic aneurysms (TAAs) protect against atherosclerosis. However, there have been no studies examining the relationship between ascending TAAs and clinical endpoints of atherosclerosis, such as stroke or peripheral arterial disease. In this study, we aim to characterize the relationship between TAAs and a specific clinical endpoint of atherosclerosis, myocardial infarction (MI). We compared prevalence of coronary artery disease (CAD) and MIs in 487 patients who underwent surgical repair for ascending TAAs to 500 control patients who did not have an ascending TAA. Multivariate binary logistic regression was used to calculate the odds of having MI if a patient had an ascending TAA versus any of several MI risk factors. There was a significantly lower prevalence of CAD and MI in the ascending TAA group than in the control TAA group. The odds of having a MI if a patient had a MI risk factor were all > 1 (more likely to have a MI), with the lowest statistically significant odds ratio being 1.54 (age; p = 0.001) and the highest being 14.9 (family history of MI; p < 0.001). The odds ratio of having a MI if a patient had an ascending TAA, however, was near 0 at 0.05 (p < 0.001). This study provides evidence that ascending TAAs protect against MIs, adding further support to the hypothesis that ascending TAAs protect against atherosclerotic disease.
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Project description:ObjectivesCurrent endografts for thoracic endovascular aortic repair (TEVAR) are much stiffer than the aorta and have been shown to induce acute stiffening. In this study, we aimed to estimate the impact of TEVAR on left ventricular (LV) stroke work (SW) and mass using a non-invasive image-based workflow.MethodsThe University of Michigan database was searched for patients treated with TEVAR for descending aortic pathologies (2013-2016). Patients with available pre-TEVAR and post-TEVAR computed tomography angiography and echocardiography data were selected. LV SW was estimated via patient-specific fluid-structure interaction analyses. LV remodelling was quantified through morphological measurements using echocardiography and electrocardiographic-gated computed tomography angiography data.ResultsEight subjects were included in this study, the mean age of the patients was 68 (73, 25) years, and 6 patients were women. All patients were prescribed antihypertensive drugs following TEVAR. The fluid-structure interaction simulations computed a 26% increase in LV SW post-TEVAR [0.94 (0.89, 0.34) J to 1.18 (1.11, 0.65) J, P = 0.012]. Morphological measurements revealed an increase in the LV mass index post-TEVAR of +26% in echocardiography [72 (73, 17) g/m2 to 91 (87, 26) g/m2, P = 0.017] and +15% in computed tomography angiography [52 (46, 29) g/m2 to 60 (57, 22) g/m2, P = 0.043]. The post- to pre-TEVAR LV mass index ratio was positively correlated with the post- to pre-TEVAR ratios of SW and the mean blood pressure (ρ = 0.690, P = 0.058 and ρ = 0.786, P = 0.021, respectively).ConclusionsTEVAR was associated with increased LV SW and mass during follow-up. Medical device manufacturers should develop more compliant devices to reduce the stiffness mismatch with the aorta. Additionally, intensive antihypertensive management is needed to control blood pressure post-TEVAR.
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Project description:The bicuspid aortic valve is the most common congenital cardiac anomaly in developed nations. The abnormal bicuspid morphology of the aortic valve results in valvular dysfunction and subsequent hemodynamic derangements. However, the clinical presentation of bicuspid aortic valve disease remains quite heterogeneous with patients presenting from infancy to late adulthood with variable degrees of valvular stenosis and insufficiency and associated abnormalities including aortic coarctation, hypoplastic left heart structures, and ascending aortic dilatation. Emerging evidence suggests that the heterogeneous presentation of bicuspid aortic valve phenotypes may be a more complex matter related to congenital, genetic, and/or connective tissue abnormalities. Optimal management of patients with BAV disease and associated ascending aortic aneurysms often requires a thoughtful approach, carefully assessing various risk factors of the aortic valve and the aorta and discerning individual indications for ongoing surveillance, medical management, and operative intervention. We review current concepts of anatomic classification, pathophysiology, natural history, and clinical management of bicuspid aortic valve disease with associated ascending aortic aneurysms.
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Project description:An ascending aortic aneurysm (AscAA) is a life-threatening disease whose molecular basis is poorly understood. Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV), which is associated with AscAA. Here, we describe a potentially novel role for Notch1 in AscAA. We found that Notch1 haploinsufficiency exacerbated the aneurysmal aortic root dilation seen in the Marfan syndrome mouse model and that heterozygous deletion of Notch1 in the second heart field (SHF) lineage recapitulated this exacerbated phenotype. Additionally, Notch1+/- mice in a predominantly 129S6 background develop aortic root dilation, indicating that loss of Notch1 is sufficient to cause AscAA. RNA sequencing analysis of the Notch1.129S6+/- aortic root demonstrated gene expression changes consistent with AscAA. These findings are the first to our knowledge to demonstrate an SHF lineage-specific role for Notch1 in AscAA and suggest that genes linked to the development of BAV may also contribute to the associated aortopathy.
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Project description:ObjectiveThe need for biological markers of aortic wall stress and risk of rupture or dissection of ascending aortic aneurysms is obvious. To date, wall stress cannot be related to a certain biological marker. We analyzed aortic tissue and serum for the presence of different MMP-2 isoforms to find a connection between serum and tissue MMP-2 and to evaluate the potential of different MMP-2 isoforms as markers of high wall stress.MethodsSerum and aortic tissue from n = 24 patients and serum from n = 19 healthy controls was analyzed by ELISA and gelatin zymography. 24 patients had ascending aortic aneurysms, 10 of them also had aortic root aneurysms. Three patients had normally functioning valves, 12 had regurgitation alone, eight had regurgitation and stenosis and one had only stenosis. Patients had bicuspid and tricuspid aortic valves (9/15). Serum samples were taken preoperatively, and the aortic wall specimen collected during surgical aortic repair.ResultsPro-MMP-2 was identified in all serum and tissue samples. Pro-MMP-2 was detected in all tissue and serum samples from patients with ascending aortic/aortic root aneurysms, irrespective of valve morphology or other clinical parameters and in serum from healthy controls. We also identified active MMP-2 in all tissue samples from patients with ascending aortic/aortic root aneurysms. None of the analyzed serum samples revealed signals relatable to active MMP-2. No correlation between aortic tissue total MMP-2 or tissue pro-MMP-2 or tissue active MMP-2 and serum MMP-2 was found and tissue MMP-2/pro-MMP-2/active MMP-2 did not correlate with aortic diameter. This evidence shows that pro-MMP-2 is the predominant MMP-2 species in serum of patients and healthy individuals and in aneurysmatic aortic tissue, irrespective of aortic valve configuration. Active MMP-2 species are either not released into systemic circulation or not detectable in serum. There is no reliable connection between aortic tissue-and serum MMP-2 isoforms, nor any indication that pro-MMP-2 functions as a common marker of high aortic wall stress.
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