Bicuspid aortic valves and thoracic aortic aneurysms in patients with intracranial aneurysms

INTRODUCTION: Prior studies have suggested an increased prevalence of intracranial aneurysms (ICA) in patients with bicuspid aortic valves (BAV) and thoracic ascending aortic aneurysms (TAA). We tested the hypothesis that if true, conversely, the prevalence of BAV and TAA should be increased in patients with ICA. METHODS: We identified and reviewed the clinical records of patients treated for an ICA at our institution between 2002 and 2011. Only those with an echocardiogram report in their clinical record were included for further analysis. The prevalence of BAV and TAA in this cohort was determined based on the echocardiogram reports, medical records, and, when available, cross-sectional chest imaging. Proportion confidence intervals were calculated and compared to population prevalence estimates. RESULTS: Of 1051 patients with ICA, 321 had available echocardiogram reports that included assessment of the aortic valve. Of these, 85 also had cross-sectional chest imaging. Of the 321 patients, 2 were reported to have a BAV (0.6%, 95% CI 0 - 2.5%), similar to population prevalence estimates for this condition. In this same cohort, there were 15 (4.7%, 95% CI 2.7 - 7.8%) patients with a TAA. Among the 85 patients with cross-sectional chest imaging, the prevalence of TAA exceeded that expected for a community age- and gender-matched population (see Figure, gray lines represent upper and lower limits of normal). CONCLUSIONS: This retrospective analysis suggests an increased prevalence of TAA, but not BAV, in patients with ICA.

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Epigenetic Profiling Identifies Novel Genes for Ascending Aortic Aneurysm Formation with Bicuspid Aortic Valves

The Heart Surgery Forum ◽

10.1532/hsf.1247 ◽

2015 ◽

Vol 18 (4) ◽

pp. 134 ◽

Cited By ~ 12

Author(s):

Asad A Shah

Keyword(s):

Gene Expression ◽

Aortic Aneurysm ◽

Methylation Status ◽

Aortic Aneurysms ◽

Aortic Valves ◽

Ascending Aortic Aneurysm ◽

Novel Genes ◽

Aneurysm Formation ◽

Aortic Replacement ◽

Bicuspid Aortic Valves

Background: Bicuspid aortic valves predispose to ascending aortic aneurysms, but the mechanisms underlying this aortopathy remain incompletely characterized. We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patients.Methods: Ascending aortic aneurysm tissue samples were collected at the time of aortic replacement in subjects with bicuspid and trileaflet aortic valves. Genome-wide DNA methylation status was determined on DNA from tissue using the Illumina 450K methylation chip, and gene expression was profiled on the same samples using Illumina Whole-Genome DASL arrays. Gene methylation and expression were compared between bicuspid and trileaflet individuals using an unadjusted Wilcoxon rank sum test. Results: Twenty-seven probes in 9 genes showed significant differential methylation and expression (P<5.5x10-4). The top gene was protein tyrosine phosphatase, non-receptor type 22 (PTPN22), which was hypermethylated (delta beta range: +15.4 to +16.0%) and underexpressed (log 2 gene expression intensity: bicuspid 5.1 vs. trileaflet 7.9, P=2x10-5) in bicuspid patients, as compared to tricuspid patients. Numerous genes involved in cardiovascular development were also differentially methylated, but not differentially expressed, including ACTA2 (4 probes, delta beta range: -10.0 to -22.9%), which when mutated causes the syndrome of familial thoracic aortic aneurysms and dissectionsConclusions: Using an integrated, unbiased genomic approach, we have identified novel genes associated with ascending aortic aneurysms in patients with bicuspid aortic valves, modulated through epigenetic mechanisms. The top gene was PTPN22, which is involved in T-cell receptor signaling and associated with various immune disorders. These differences highlight novel potential mechanisms of aneurysm development in the bicuspid population.

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Natural History of Ascending Aortic Aneurysms (40-50 mm): Impact of Bicuspid Aortic Valves

10.22541/au.160507447.74467039/v1 ◽

2020 ◽

Author(s):

Tarek Malas ◽

Eric Dumont ◽

Siamak Mohammadi ◽

Pierre Voisine ◽

François Dagenais

Keyword(s):

Natural History ◽

Aortic Aneurysms ◽

Aortic Valves ◽

Bicuspid Aortic Valves ◽

History Of

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Matrix metalloproteinase activity in thoracic aortic aneurysms associated with bicuspid and tricuspid aortic valves

Journal of Thoracic and Cardiovascular Surgery ◽

10.1016/j.jtcvs.2003.11.049 ◽

2004 ◽

Vol 127 (3) ◽

pp. 686-691 ◽

Cited By ~ 89

Author(s):

Jon Boyum ◽

Erika K Fellinger ◽

Joseph D Schmoker ◽

Lucy Trombley ◽

Kenneth McPartland ◽

...

Keyword(s):

Matrix Metalloproteinase ◽

Aortic Aneurysms ◽

Aortic Valves ◽

Thoracic Aortic Aneurysms ◽

Metalloproteinase Activity

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Screening for Intracranial Aneurysms in Patients with Thoracic Aortic Aneurysms

Cerebrovascular Diseases ◽

10.1159/000501194 ◽

2019 ◽

Vol 47 (5-6) ◽

pp. 253-259 ◽

Cited By ~ 6

Author(s):

Ajay Malhotra ◽

Kimberly Seifert ◽

Xiao Wu ◽

Charles Matouk ◽

John A. Elefteriades

Keyword(s):

Intracranial Aneurysms ◽

Retrospective Studies ◽

Univariate Analysis ◽

Significant Risk ◽

Aortic Aneurysms ◽

Study Patient ◽

Categorical Variables ◽

General Population Study ◽

Thoracic Aortic Aneurysms ◽

Study Results

Introduction: A higher prevalence of intracranial aneurysms (IAs) has been previously reported by retrospective studies in patients with thoracic aortic aneurysms (TAAs). The goal of this study was to evaluate the prevalence of IAs in a large cohort of prospectively screened patients with TAAs and identify potential risk factors. Methods: Patients above 18 years with TAAs who were prospectively screened for IAs using computed tomographic angiogram/magnetic resonance angiogram over a 9-year period were included in the study. Patient demographics, comorbidities, aortic, and IA locations and sizes were analyzed. Univariate analysis was performed with the χ2 test for categorical variables and the Student t test or ANOVA for continuous variables. Results: Five hundred and fifty-four patients with TAAs were prospectively screened for IAs and included in the study. Thirty-one IAs were identified in 27 patients (prevalence = 4.9%). The prevalence of IAs in patients with ascending TAAs was 4.51% and in descending TAAs was 9.09%. Twenty out of 31 IAs were 2 mm in size, 6/31 were 3 mm, and 5/31 were 4 mm in size. Hypertension was associated with an increased prevalence of IAs, especially in patients with descending TAAs. Discussion/Conclusion: The prevalence of IAs in patients with TAAs may not be as high as described in previous retrospective studies. Our results suggest that the prevalence of IAs in patients with TAAs is similar to the general population. Study results reveal that IAs have a higher correlation to patients with descending TAAs, although not statistically significant. Hypertension was found to be a statistically significant risk factor for IAs in patients with TAAs.

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Prevalence of thoracic aortic aneurysms and dilatations in patients with intracranial aneurysms

Journal of Vascular Surgery ◽

10.1016/j.jvs.2019.01.066 ◽

2019 ◽

Vol 70 (6) ◽

pp. 1801-1808 ◽

Cited By ~ 5

Author(s):

Dan Laukka ◽

Emily Pan ◽

Terhi Fordell ◽

Kemal Alpay ◽

Melissa Rahi ◽

...

Keyword(s):

Intracranial Aneurysms ◽

Aortic Aneurysms ◽

Thoracic Aortic Aneurysms

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Bicuspid aortic valves and intracranial aneurysms: more than an incidental coexistence?

Heart ◽

10.1136/heartjnl-2017-311482 ◽

2017 ◽

Vol 103 (19) ◽

pp. 1477-1478 ◽

Cited By ~ 1

Author(s):

Evaldas Girdauskas

Keyword(s):

Intracranial Aneurysms ◽

Aortic Valves ◽

Bicuspid Aortic Valves

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Bicuspid Aortic Valves Are Associated With Aortic Dilatation Out of Proportion to Coexistent Valvular Lesions

Circulation ◽

10.1161/circ.102.suppl_3.iii-35 ◽

2000 ◽

Vol 102 (suppl_3) ◽

Author(s):

Martin G. Keane ◽

Susan E. Wiegers ◽

Ted Plappert ◽

Alberto Pochettino ◽

Joseph E. Bavaria ◽

...

Keyword(s):

Aortic Stenosis ◽

Aortic Regurgitation ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Aortic Aneurysms ◽

Aortic Dilatation ◽

Aortic Valves ◽

Bicuspid Aortic Valves ◽

Valvular Lesions ◽

Aortic Size

Background —Bicuspid aortic valves (BAVs) are associated with premature valve stenosis, regurgitation, and ascending aortic aneurysms. We compared aortic size in BAV patients with aortic size in control patients with matched valvular lesions (aortic regurgitation, aortic stenosis, or mixed lesions) to determine whether intrinsic aortic abnormalities in BAVs account for aortic dilatation beyond that caused by valvular hemodynamic derangement alone. Methods and Results —Diameters of the left ventricular outflow tract, sinus of Valsalva, sinotubular junction, and proximal aorta were measured from transthoracic echocardiograms in 118 consecutive BAV patients. Annular area was measured by planimetry, and BAV eccentricity was expressed as the ratio of the right leaflet area to the total annular area. Seventy-seven control patients with tricuspid aortic valves were matched for sex and for combined severity of regurgitation and stenosis. BAV patients (79 men and 39 women, aged 44.1±15.5 years) had varying degrees of regurgitation (84 patients [71%]) and stenosis (48 patients [41%]). Within the bicuspid group, multivariate analysis demonstrated that aortic diameters increased with worsening aortic regurgitation ( P <0.001) and advancing age ( P <0.05) but not with the severity of aortic stenosis. BAV patients had larger aortic diameters than did control patients at all ascending aortic levels measured ( P <0.01), despite advanced age in the control patients. Conclusions —Aortic dimensions are larger in BAV patients than in control patients with comparable degrees of tricuspid aortic valve disease. Although more severe degrees of aortic regurgitation are associated with aortic dilatation in BAV patients, intrinsic pathology appears to be responsible for aortic enlargement beyond that predicted by hemodynamic factors.

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Differing patterns of matrix metalloproteinase expression in patients with ascending aortic aneurysms and bicuspid aortic valves

Journal of Surgical Research ◽

10.1016/j.jss.2003.08.177 ◽

2003 ◽

Vol 114 (2) ◽

pp. 255

Author(s):

X. Wang ◽

S.A. LeMaire ◽

L.D. Conklin ◽

C. Chen ◽

W. Fu ◽

...

Keyword(s):

Matrix Metalloproteinase ◽

Aortic Aneurysms ◽

Aortic Valves ◽

Bicuspid Aortic Valves

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Pulmonary artery aneurysm associated with a non-stenotic bicuspid pulmonic valve: a role for genetics?

10.22541/au.162533459.99232290/v1 ◽

2021 ◽

Author(s):

Sophia Alexis ◽

Ismail El-Hamamsy ◽

Michael Robbins

Keyword(s):

Pulmonary Artery ◽

Artery Aneurysm ◽

Vascular Wall ◽

Aortic Aneurysms ◽

Pulmonary Artery Aneurysm ◽

Aortic Valves ◽

Pulmonic Valve ◽

Thoracic Aortic Aneurysms ◽

Pulmonary Artery Aneurysms ◽

The Relationship

Background Bicuspid pulmonic valves are quite uncommon, being described in only 0.1% of donor hearts, while pulmonary artery aneurysms are even more rare, having been found in 8 out of 109,571 autopsies. This rarity makes it difficult to characterize the relationship between them. Materials & Methods We describe the case of a 66-year-old female who was found to have a bicuspid pulmonic valve and pulmonary artery aneurysm (5.1cm) on imaging by her cardiologist. Discussion & Conclusion This case raises the question of whether the association between bicuspid semilunar valve disease and vascular wall anomalies are more genetic or hemodynamic. Even on the aortic side, despite the robust association between bicuspid aortic valves and thoracic aortic aneurysms, the mechanism still remains unclear. In our patient there was no significant gradient across the bicuspid pulmonic valve, suggesting that hemodynamics are not the primum mobile of this association.

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