scholarly journals Clinical and Genetic insights in a tertiary care center cohort of patients with bicuspid aortic valve

2021 ◽  
Author(s):  
Alexis Théron ◽  
Anissa Touil ◽  
Noémie Résseguier ◽  
Gwenaelle Collod-Beroud ◽  
Giulia Norscini ◽  
...  

ABSTRACTBACKGROUNDto describe spectrum of valve function in bicuspid aortic valve (BAV) patients referred to a tertiary care center and to investigate genetic pathways associated with valve degeneration.METHODSAll consecutive patients with BAV were prospectively included from 2014 to 2018. BAV was defined according to embryologic and Sievers classifications. Clinical and echo variables were compared according to aortic valve function. Aortic valve tissues were collected from BAV patients (n=15) operated for severe aortic stenosis (AS-BAV, n=7) or aortic regurgitation (AR-BAV, n=8). RT-qPCR was performed to compare gene expression level in AS-BAV, AR-BAV and controls corresponding to healthy tricuspid aortic valves collected on human heart explant immediately after transplantation (n=5).RESULTSOut of 223 adults with BAV, mean age 53±17 years, 83% had left-right coronary cusps fusion, 80% Sievers type 1 BAV and 49% aortopathy. Twenty-four patients had normal valve function, 66 patients had AS-BAV, 91 patients had AR-BAV and 40 patient had AR+AS BAV. BAV phenotype did not predict neither AS-BAV nor AR-BAV (all p>0.1). By multivariable analysis, age >50 (41.6[10.3-248.2],p<0.001) and presence of raphe(12.8[2.4-87.4],p<0.001) were significantly associated with AS-BAV and male gender of AR-BAV(5[1.6-16.4], p=0.005). RT-qPCR revealed overexpression of RUNX2 in AS-BAV (17.67±1.83 vs 3.25±0.93, p=0.04), and overexpression of COL1A1 (4.01±0.6vs2.25±0.5,p=0.03) and FLNA (23.31±7.5vs1.97±0.3,p=0.03) in AR-BAV.CONCLUSIONSThis prospective study confirmed high prevalence of valve dysfunction at first diagnosis of BAV in a referred population. Clinical and echo variables are poorly associated with BAV dysfunction. The leaking or stenotic processes could be both supported by dysregulation of specific genetic pathways

Author(s):  
Arianna Kahler-Quesada ◽  
Ishani Vallabhajosyula ◽  
Sameh Yousef ◽  
Makoto Mori ◽  
Roland Assi ◽  
...  

Background/Aim: In patients with bicuspid aortic valves, guidelines call for regular follow-up to monitor disease progression and guide timely intervention. We aimed to evaluate how closely these recommendations are followed at a tertiary care center. Methods: This was retrospective cohort study at a tertiary care center. Among 48,504 patients who received echocardiograms between 2013-2018, 245 patients were identified to have bicuspid aortic valve. Bivariate analyses compared patient and echocardiographic characteristics between patients who did and did not receive follow-up by a cardiovascular specialist. Results: The mean age of the cohort was 55.2  15.6 years and 30.2% were female. During a median follow-up of 3.5  2.2 years, 72.7% of patients had at least one visit with a cardiovascular specialist after diagnosis of bicuspid aortic valve by echocardiogram. Patients followed by specialists had a higher proportion of follow-up surveillance by echocardiogram (78.7% vs. 34.3%, p< .0001), or by CT or MRI (41.0% vs. 3.0%, p < .0001), and were more likely to undergo valve or aortic surgery compared with patients not followed by specialists. Patients with moderate to severe valvular or aortic pathology (aortic stenosis/regurgitation, dilated ascending aorta) were not more likely to be followed by a cardiovascular specialist or receive follow-up echocardiograms. Conclusions: Follow-up care for patients with bicuspid aortic valve was highly variable, and surveillance imaging was performed sparsely despite guidelines. There is an urgent need for surveillance and clinical follow-up mechanisms to monitor this patient population with increased risk of progressive valvulopathy and aortopathy.


Author(s):  
Alexis Théron ◽  
Anissa Touil ◽  
Noémie Résseguier ◽  
Gwenaelle Collod-Beroud ◽  
Giulia Norscini ◽  
...  

2020 ◽  
Vol 9 (2) ◽  
pp. 290
Author(s):  
Anthonie Duijnhouwer ◽  
Allard van den Hoven ◽  
Remy Merkx ◽  
Michiel Schokking ◽  
Roland van Kimmenade ◽  
...  

Objective: The combination of aortic coarctation (CoA) and bicuspid aortic valve (BAV) is assumed to be associated with a higher risk of ascending aortic dilatation and type A dissection, and current European Society of Cardiology (ESC) guidelines advise therefore to operate at a lower threshold in the presence of CoA. The aim of our study is to evaluate whether the coexistence of CoA in BAV patients is indeed associated with a higher risk of ascending aortic events (AAE). Methods: In a retrospective study, all adult BAV patients visiting the outpatient clinic of our tertiary care center between February 2003 and February 2019 were included. The primary end point was an ascending aortic event (AAE) defined as ascending aortic dissection/rupture or preventive surgery. The secondary end points were aortic dilatation and aortic growth. Results: In total, 499 BAV patients (43.7% female, age 40.3 ± 15.7 years) were included, of which 121 (24%) had a history of CoA (cBAV). An aortic event occurred in 38 (7.6%) patients at a mean age of 49.0 ± 13.6 years. In the isolated BAV group (iBAV), significantly more AAE occurred, but this was mainly driven by aortic valve dysfunction as indication for aortic surgery. There was no significant difference in the occurrence of dissection or severely dilated ascending aorta (>50 mm) between the iBAV and cBAV patients (p = 0.56). The aortic diameter was significantly smaller in the cBAV group (30.3 ± 6.9 mm versus 35.7 ± 7.6 mm; p < 0.001). The median aortic diameter increase was 0.23 (interquartile range (IQR): 0.0–0.67) mm/year and was not significantly different between both groups (p = 0.74). Conclusion: Coexistence of CoA in BAV patients was not associated with a higher risk of aortic dissection, preventive aortic surgery, aortic dilatation, or more rapid aorta growth. This study suggests that CoA is not a risk factor in BAV patients, and the advice to operate at lower diameter should be reevaluated.


Epilepsia ◽  
2006 ◽  
Vol 47 (2) ◽  
pp. 394-398 ◽  
Author(s):  
Howard L. Kim ◽  
Joseph H. Donnelly ◽  
Anne E. Tournay ◽  
Teri M. Book ◽  
Pauline Filipek

2011 ◽  
Vol 96 (1-2) ◽  
pp. 140-150 ◽  
Author(s):  
Diana Rudin ◽  
Leticia Grize ◽  
Christian Schindler ◽  
Stephan Marsch ◽  
Stephan Rüegg ◽  
...  

2020 ◽  
Vol 38 (6_suppl) ◽  
pp. 398-398
Author(s):  
Nathan Chertack ◽  
Rashed Ghandour ◽  
Nirmish Singla ◽  
Yuval N. Freifeld ◽  
Ryan C. Hutchinson ◽  
...  

398 Background: Optimal treatment of GCT in underserved populations is subject to barriers that are associated with worse clinical outcomes. We determine whether standardized treatment of GCT can overcome such sociodemographic factors limiting patient care. Methods: The records of all patients undergoing primary treatment for GCT were analyzed from both a public safety net hospital and an academic tertiary care center in the same metropolitan area. Patients at both institutions were managed by the same group of physicians in the context of multidisciplinary cancer care. Patients were grouped by care center and clinicopathologic features, practice patterns, and outcomes were analyzed. Results: 106 and 95 patients underwent initial treatment for GCT between 2006 and 2018 in the safety net hospital and tertiary care center, respectively. Safety net patients were younger (29 vs 33 years, p=0.005), more likely to be Hispanic (79% vs 11%), more likely to be uninsured (80% vs 12%, p<0.001), and present via the emergency department (76% vs 8%, p<0.001). They were more likely to have metastatic (stage II/III) disease (42% vs 26%, p=0.025). On multivariable analysis, presence of lymphovascular invasion (OR=0.30, p=0.008) and embryonal carcinoma component (OR=0.36, p=0.02) were associated with surveillance vs adjuvant treatment for Stage I patients; hospital setting was not (OR=0.67, p=0.55). For patients with Stage II/III NSGCT, there was no difference in performance of PC-RPLND at the safety net hospital vs tertiary care center (52% vs 64%, p=0.53). No difference in recurrence rates between cohorts (5% vs 6%, p=0.76) was observed. Conclusions: Sociodemographic factors are often associated with adverse clinical outcomes in the treatment of GCT; this may be overcome with integrated, standardized management of testicular cancer.


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