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

Heart ◽  
2017 ◽  
Vol 103 (19) ◽  
pp. 1477-1478 ◽  
Author(s):  
Evaldas Girdauskas
Stroke ◽  
2013 ◽  
Vol 44 (suppl_1) ◽  
Author(s):  
Manu S Goyal ◽  
Ravi Gottumukkala ◽  
Sanjeev Bhalla ◽  
Andrew M Kates ◽  
Gregory J Zipfel ◽  
...  

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.


Neurology ◽  
2014 ◽  
Vol 84 (1) ◽  
pp. 46-49 ◽  
Author(s):  
M. S. Goyal ◽  
R. Gottumukkala ◽  
S. Bhalla ◽  
A. Kates ◽  
G. J. Zipfel ◽  
...  

2015 ◽  
Vol 18 (4) ◽  
pp. 134 ◽  
Author(s):  
Asad A Shah

<p><strong>Background:  </strong>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.</p><p><strong>Methods:  </strong>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.  </p><p><strong>Results:  </strong>Twenty-seven probes in 9 genes showed significant differential methylation and expression (P&lt;5.5x10<sup>-4</sup>).  The top gene was protein tyrosine phosphatase, non-receptor type 22 (<em>PTPN22</em>), 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<sup>-5</sup>) in bicuspid patients, as compared to tricuspid patients.  Numerous genes involved in cardiovascular development were also differentially methylated, but not differentially expressed, including <em>ACTA2</em> (4 probes, delta beta range:  -10.0 to -22.9%), which when mutated causes the syndrome of familial thoracic aortic aneurysms and dissections</p><p><strong>Conclusions:  </strong>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 <em>PTPN22</em>, 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.</p>


2021 ◽  
Vol 38 (3) ◽  
pp. 394-401
Author(s):  
Matthew W. Parker ◽  
Renee Dallasen Muchnik ◽  
Adedotun Ogunsua ◽  
Amartya Kundu ◽  
Suvasini Lakshmanan ◽  
...  

Author(s):  
Daniel Blackman ◽  
Davide Gabbieri ◽  
Bruno García Del Blanco ◽  
Jörg Kempfert ◽  
Mika Laine ◽  
...  

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