scholarly journals Bicuspid aortic valve associated aortopathy: a genetic disease

2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Gibran Minero ◽  
Simon C. Body
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Genetic Disease ◽  
Genetic Variant ◽  
Aortic Disease ◽  
Common Mechanism ◽  
Thoracic Aortic Disease ◽  
Strength Of Evidence ◽  
Flow Through ◽  
Hemodynamic Alteration

As the most common congenital heart defect, understanding the etiology and progression of aortopathy in bicuspid aortic valve (BAV) is imperative to management of patients with BAV. A reasonable hypothesis, based on the strength of evidence for both genetic and hemodynamic causes of BAV-associated thoracic aortic disease (TAD), is that BAV is caused by genetic variant(s) that also predispose to TAD by a common mechanism; presumably by cell-signaling resulting in an embryologic defect that causes BAV and a postnatal risk of TAD that is accentuated by hemodynamic stress of abnormal flow through the BAV valve. Clinical heterogeneity seen in BAVassociated TAD is likely due to individual genetic variation and the severity of hemodynamic alteration.

scholarly journals Aortic arch tortuosity, a novel biomarker for thoracic aortic disease, is increased in adults with bicuspid aortic valve

2019 ◽  
Vol 284 ◽  
pp. 84-89 ◽  
Author(s):  
Bader Aldeen Alhafez ◽  
Van Thi Thanh Truong ◽  
Daniel Ocazionez ◽  
Sahand Sohrabi ◽  
Harleen Sandhu ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Aortic Arch ◽  
Bicuspid Aortic Valve ◽  
Aortic Disease ◽  
Thoracic Aortic Disease

Abstract 102: Granular Media Calcinosis in the Aortic Wall of Patients With Bicuspid and Tricuspid Aortic Valves

2014 ◽  
Vol 34 (suppl_1) ◽  
Author(s):  
Sandy von Salisch ◽  
Josephina Haunschild ◽  
Martin Misfeld ◽  
Michael A Borger ◽  
Stefan Dhein ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Granular Media ◽  
Aortic Wall ◽  
Aortic Disease ◽  
Dissecting Aneurysm ◽  
Media Thickness ◽  
Significant Difference ◽  
The Media ◽  
Aneurysm Dissection

Background: Bicuspid aortic valve is the most frequent congenital cardiac abnormality and associated with proximal aortic disease (i.e. aneurysm, dissection or rupture). Granular media calcinosis(GMC)--suggested to increase stiffness and play a pathogenetic role in dissecting aneurysm--has not yet been quantified in BAV. Methods: Specimen of the proximal aortic wall from 76 patients--32 with tricuspid (TAV) and 44 with bicuspid aortic valve (BAV)--were obtained during surgery to quantify media thickness and GMC by von Kossa staining (panel C), comparing the convexity (Cvx) and concavity (Ccv) in BAV vs. TAV. Results: Interlamellar GMC affected the most central layers of the media and those adjacent to the outer adventitia with a doubling within both--the Cvx and Ccv--of pts with BAV compared to patients with TAV (13.3±9.6 vs. 6.6±7.4 and 12.8±10.8 vs. 6.4±7.1; p<0.05, panel A) was seen, but neither a difference in calcification between the Ccx and the Ccv side within the BAV nor the TAV group. No association between age and calcification grade , neither in the Cvx nor the Ccv (r=0.132, p=0.218 and 0.103, p=0.341) was seen. There was a significant difference in the total media thickness between BAV and TAV at the Cvx (867±162μm vs . 993±158μm; p<0.05) and the Ccv (1005 ± 236 vs 1223 ± 217μm; p<0.05, panel B). Independent of aortic valve morphology, the Cvx was thinner than the Ccv side (TAV: 993 ± 158 vs.1223 ± 217μm; p<0.001; BAV: 869 ± 162 vs.1005 ± 236μm; p<0.05, panel B). Conclusion: BAVs had significantly thinner media and twice as much GMC than their tricuspid peers possibly associated with the loosening of the bond between the elastic lamellae causing a decrease in elasticity possibly explaining a higher risk for dissection and rupture.

scholarly journals Bicuspid aortic valve with severe aortic stenosis: a case report

2016 ◽  
Vol 44 (2) ◽  
pp. 105-108
Author(s):  
Redoy Ranjan ◽  
Md Mushfiqur Rahman ◽  
Omar Sadeque Khan ◽  
Md Aftabuddin ◽  
Asit Baran Adhikary
Keyword(s):  
Aortic Valve ◽  
Aortic Stenosis ◽  
Aortic Valve Replacement ◽  
Aortic Regurgitation ◽  
Valve Replacement ◽  
Bicuspid Aortic Valve ◽  
Severe Aortic Stenosis ◽  
Color Doppler ◽  
Flow Through ◽  
High Record

A bicuspid aortic valve (BAV) can be a serious disorder of heart valve in which the valve only has two leaflets or flaps that control blood flow through the heart. Between one and two percent of all people have this defect and it affects more men than women. This report presents a case of severe aortic stenosis with mild to moderate aortic regurgitation due to bicuspid aortic valve with hypertension. A 37 years old male presented with high record of blood pressure and occasional shortness of breath on exertion. Echocardiography (Color Doppler) revealed severe aortic stenosis with mild to moderate aortic regurgitation due to bicuspid aortic valve with moderately severe concentric LV wall hypertrophy. Surgical treatment (aortic valve replacement) was scheduled based on echocardiography findings. On surgical resection a well defined bicuspid aortic valve was found with calcification and friable valve leaflet. Histopathology of valve tissue shows large areas of calcification. Patient was discharged from hospital on 7th POD with an advice to attend cardiac surgery OPD after 1 month. Aortic valve replacement must be considered in this type of lesion.Bangladesh Med J. 2015 May; 44 (2): 105-108

scholarly journals Bicuspid aortic valve and aortic disease. The role of family screening

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P4757-P4757
Author(s):  
A. Carro ◽  
G. Teixido ◽  
M. Sanz ◽  
V. Galuppo ◽  
L. Galian ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Aortic Disease ◽  
Family Screening

scholarly journals MRI hemodynamic markers of progressive bicuspid aortic valve-related aortic disease

2013 ◽  
Vol 40 (1) ◽  
pp. 140-145 ◽  
Author(s):  
Michael D. Hope ◽  
Monica Sigovan ◽  
S. Jarrett Wrenn ◽  
David Saloner ◽  
Petter Dyverfeldt
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Aortic Disease

scholarly journals KIF6 719Arg Genetic Variant and Risk for Thoracic Aortic Dissection

Aorta ◽  
2016 ◽  
Vol 04 (03) ◽  
pp. 83-90 ◽  
Author(s):  
Olga Iakoubova ◽  
Carmen Tong ◽  
Joseph Catanese ◽  
Charles Rowland ◽  
May Luke ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Aortic Dissection ◽  
Thoracic Aortic Aneurysm ◽  
Genetic Variant ◽  
The United States ◽  
Aortic Disease ◽  
Carrier Status ◽  
Thoracic Aortic Disease ◽  
Logistic Regression Models ◽  
Thoracic Aortic Dissection

Background: Carriers of the 719Arg variant in KIF6, compared with noncarriers, have been reported to be at greater risk for coronary heart disease (CHD) in six prospective studies. Because CHD, thoracic aortic dissection, and nondissection thoracic aortic aneurysm share some risk factors and aspects of pathophysiology, we investigated whether carriers of the 719Arg variant also have greater odds of thoracic aortic dissection or nondissected thoracic aortic aneurysm than noncarriers. Methods: We genotyped 140 thoracic aortic dissection cases, 497 nondissection thoracic aortic aneurysm cases, and 275 disease-free controls collected in the United States, Hungary, and Greece and investigated the association between KIF6 719Arg carrier status and thoracic aortic dissection, and between KIF6 719Arg carrier status and nondissection thoracic aortic aneurysm, using logistic regression models adjusted for age, sex, hypertension, smoking, and country. Results: The odds of aortic dissection were two-fold greater in KIF6 719Arg carriers compared with noncarriers (odds ratio (OR) 2.14, 95% confidence interval (CI) 1.18-3.9). To account for the potential of concomitant CHD to confound the association between the KIF6 719Arg and thoracic aortic dissection, we repeated the analysis after removing subjects with concomitant CHD; the estimates for association of KIF6 719Arg carrier status remained essentially the same (OR 2.04, 95% CI 1.11-3.77). In contrast, KIF6 719Arg carrier status was not associated with risk for nondissection thoracic aortic aneurysm. Conclusions: We observed an association of the KIF6 719Arg genetic variant with thoracic aortic dissection in this multicenter case-control study. This association may enhance our management of patients with thoracic aortic disease.

Circulating microRNAs vs. aortic diameter in bicuspid aortic valve aortopathy

2020 ◽  
pp. 021849232092723
Author(s):  
Shiho Naito ◽  
Johannes Petersen ◽  
Tatiana Sequeira-Gross ◽  
Tanja Zeller ◽  
Hermann Reichenspurner ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Risk Stratification ◽  
Bicuspid Aortic Valve ◽  
Treatment Guidelines ◽  
Aortic Disease ◽  
Current Evidence ◽  
Diagnostic Tools ◽  
Circulating Micrornas ◽  
Prediction Tools ◽  
Improve Risk Stratification

There is growing clinical need and interest to implement novel risk prediction tools in bicuspid aortic valve-associated proximal aortic disease, so-called bicuspid aortic valve aortopathy. Inherent limitations of the diameter-based risk stratification for adverse aortic events in bicuspid aortic valve aortopathy patients have recently been recognized. Therefore, alternative diagnostic tools and subsequent adjustments in the treatment guidelines are urgently needed. Herein, we summarize the current evidence on recent diagnostic developments to improve risk stratification in bicuspid aortic valve aortopathy, including circulating microRNAs as biomarkers to predict the progression of aortic disease.

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