Bicuspid Aortic Valve

Michelena, Héctor I.; Prakash, Siddharth K.; Corte, Alessandro Della; Bissell, Malenka M.; Anavekar, Nandan S.; Mathieu, Patrick; Bossé, Yohan; Limongelli, Giuseppe; Bossone, Eduardo; Benson, D. Woodrow; Lancellotti, Patrizio; Isselbacher, Eric M.; Enríquez-Sarano, Maurice; Sundt, Thoralf M.; Pîbarot, Philippe; Evangelista, Artur; Milewicz, Dianna M.; Body, Simon C.

doi:10.1161/circulationaha.113.007851

Cited by 365 publications

(162 citation statements)

References 101 publications

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“…Evidence strongly implicates genetic mechanisms for selected aortic diseases such as Marfan syndrome, but the underlying cause of ascending aortic aneurysm formation in other aortic diseases is less well understood 1, 2. For example, many patients with congenital bicuspid aortic valve (BAV) develop ascending aortic dilatation,3, 4 in whom the underlying causative mechanisms are not clear 5. Genetic variants may contribute to BAV mediated aortopathy, but no common or unifying genetic pattern has emerged.…”

Section: Introductionmentioning

confidence: 99%

Aortic Valve Stenosis Alters Expression of Regional Aortic Wall Shear Stress: New Insights From a 4‐Dimensional Flow Magnetic Resonance Imaging Study of 571 Subjects

Ooij

Markl

Collins

et al. 2017

JAHA

133

104

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BackgroundWall shear stress (WSS) is a stimulus for vessel wall remodeling. Differences in ascending aorta (AAo) hemodynamics have been reported between bicuspid aortic valve (BAV) and tricuspid aortic valve patients with aortic dilatation, but the confounding impact of aortic valve stenosis (AS) is unknown.Methods and ResultsFive hundred seventy‐one subjects underwent 4‐dimensional flow magnetic resonance imaging in the thoracic aorta (210 right‐left BAV cusp fusions, 60 right‐noncoronary BAV cusp fusions, 245 tricuspid aortic valve patients with aortic dilatation, and 56 healthy controls). There were 166 of 515 (32%) patients with AS. WSS atlases were created to quantify group‐specific WSS patterns in the AAo as a function of AS severity. In BAV patients without AS, the different cusp fusion phenotypes resulted in distinct differences in eccentric WSS elevation: right‐left BAV patients exhibited increased WSS by 9% to 34% (P<0.001) at the aortic root and along the entire outer curvature of the AAo whereas right‐noncoronary BAV patients showed 30% WSS increase (P<0.001) at the distal portion of the AAo. WSS in tricuspid aortic valve patients with aortic dilatation patients with no AS was significantly reduced by 21% to 33% (P<0.01) in 4 of 6 AAo regions. In all patient groups, mild, moderate, and severe AS resulted in a marked increase in regional WSS (P<0.001). Moderate‐to‐severe AS further increased WSS magnitude and variability in the AAo. Differences between valve phenotypes were no longer apparent.Conclusions AS significantly alters aortic hemodynamics and WSS independent of aortic valve phenotype and over‐rides previously described flow patterns associated with BAV and tricuspid aortic valve with aortic dilatation. Severity of AS must be considered when investigating valve‐mediated aortopathy.

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Section: Introductionmentioning

confidence: 99%

Aortic Valve Stenosis Alters Expression of Regional Aortic Wall Shear Stress: New Insights From a 4‐Dimensional Flow Magnetic Resonance Imaging Study of 571 Subjects

Ooij

Markl

Collins

et al. 2017

JAHA

133

104

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“…In humans20 and mice9 with bicuspid aortic valves, early postnatal architecture of each individual cusp is usually near normal, after which progressive matrix remodeling and calcification occur at variable rates.…”

Section: Discussionmentioning

confidence: 99%

Discovery of an Experimental Model of Unicuspid Aortic Valve

Weiß

Chu

Brooks

et al. 2018

JAHA

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BackgroundThe epithelial growth factor receptor family of tyrosine kinases modulates embryonic formation of semilunar valves. We hypothesized that mice heterozygous for a dominant loss‐of‐function mutation in epithelial growth factor receptor, which are Egfr Vel/+ mice, would develop anomalous aortic valves, valve dysfunction, and valvular cardiomyopathy.Methods and ResultsAortic valves from Egfr Vel/+ mice and control mice were examined by light microscopy at 2.5 to 4 months of age. Additional Egfr Vel/+ and control mice underwent echocardiography at 2.5, 4.5, 8, and 12 months of age, followed by histologic examination. In young mice, microscopy revealed anatomic anomalies in 79% of Egfr Vel/+ aortic valves, which resembled human unicuspid aortic valves. Anomalies were not observed in control mice. At 12 months of age, histologic architecture was grossly distorted in Egfr Vel/+ aortic valves. Echocardiography detected moderate or severe aortic regurgitation, or aortic stenosis was present in 38% of Egfr Vel/+ mice at 2.5 months of age (N=24) and in 74% by 8 months of age. Left ventricular enlargement, hypertrophy, and reversion to a fetal myocardial gene expression program occurred in Egfr Vel/+ mice with aortic valve dysfunction, but not in Egfr Vel/+ mice with near‐normal aortic valve function. Myocardial fibrosis was minimal or absent in all groups.ConclusionsA new mouse model uniquely recapitulates salient functional, structural, and histologic features of human unicuspid aortic valve disease, which are phenotypically distinct from other forms of congenital aortic valve disease. The new model may be useful for elucidating mechanisms by which congenitally anomalous aortic valves become critically dysfunctional.

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“…10,14 A central raphe is absent in the less frequently occurring true bicuspid valve. [15][16][17] BAV can be an isolated congenital anomaly, but can also be associated with other abnormalities such as aortic coarctation, ventricular septal defects and hypoplastic left ventricle. 6,9,12 In most cases, BAV can be diagnosed and hemodynamically assessed using transthoracic echocardiography.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

“…In a minority of patients, particularly in calcific valve disease, higher resolution imaging techniques such as cardiac magnetic resonance imaging, computed tomography or trans-esophageal echocardiography may be required. 16,18,19 Although BAV may retain normal function throughout adult life, around 30% of the people with BAV will develop clinical complications. [3][4][5][6] Therefore patients with BAV are advised to remain under regular surveillance by a cardiologist.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

et al. 2015

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Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV) were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

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Bicuspid Aortic Valve

Cited by 365 publications

References 101 publications

Aortic Valve Stenosis Alters Expression of Regional Aortic Wall Shear Stress: New Insights From a 4‐Dimensional Flow Magnetic Resonance Imaging Study of 571 Subjects

Aortic Valve Stenosis Alters Expression of Regional Aortic Wall Shear Stress: New Insights From a 4‐Dimensional Flow Magnetic Resonance Imaging Study of 571 Subjects

Discovery of an Experimental Model of Unicuspid Aortic Valve

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

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