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Bicuspid aortic valve is the commonest congenital cardiac abnormality in the general population. This paper article will discuss our current knowledge of the anatomy, pathophysiology, genetics, and clinical aspects of bicuspid aortic valve disease.
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Quadricuspid aortic valve (QAV) is rare. Aortic valve replacement is the most frequent treatment for those patients with severe regurgitation or stenosis of quadricuspid aortic valve. However, as our comprehension of the aortic valve grows, to repair a dysfunctional quadricuspid aortic valve becomes more and more feasible. We present a case of succ...
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... The EKG of a bicuspid aortic valve with severe chronic AR (see Figure 5) shows LVH with tall, upright T waves in the lateral precordial leads due to left ventricular volume overload. A bicuspid aortic valve, be it with predominant AS or AR, is present in 1-2% of the population [3], but certainly a minority of patients with bicuspid aortic valve will have severe valvular stenosis or regurgitation. The EKG was undertaken with standard voltage (10 mm/mV) and paper speed (25 mm/s). ...
... The EKG of a bicuspid aortic valve with severe chronic AR (see Figure 5) shows LVH with tall, upright T waves in the lateral precordial leads due to left ventricular volume overload. A bicuspid aortic valve, be it with predominant AS or AR, is present in 1-2% of the population [3], but certainly a minority of patients with bicuspid aortic valve will have severe valvular stenosis or regurgitation. c. ...
The electrocardiogram is the first test that is undertaken when evaluating a patient’s heart. Diagnosing congenital heart disease in an adult (ACHD) can be facilitated by knowing the classical electrocardiographic (EKG) findings. These EKG findings often result from the congenital defect that prevents a part of the cardiac conduction system from occupying its normal anatomic position. When these classical EKG findings are not present, the clinician should consider alternate diagnoses. As the patient with congenital heart disease ages, with native anatomy or after surgical or device repair, the EKG can be used to assess the patient’s status and to decide if and when treatment requires adjustment. This is because the electrocardiogram (EKG) can diagnose the hypertrophy or enlargement in a cardiac chamber that results from the congenital defect or anomaly and can diagnose an arrhythmia that might compromise an otherwise stable anatomy. While ACHD often involves intracardiac shunting, in many cases the abnormality only involves cardiac electrical conduction block or ventricular repolarization. These life-threatening diseases can be diagnosed with an EKG. This review will demonstrate and explain how the EKG can be used to diagnose and follow adults with congenital heart disease. When coupled with history and physical examination, the value of the EKG in ACHD will be apparent. A diagnosis can then be made or a differential diagnosis proposed, before an imaging study is ordered.
... Type 1 (one raphe) with right-left (R-L) coronary cusps fusion is the most common, with 70-80% prevalence [4]. The clinical presentation of bicuspid aortic stenosis has an earlier onset than that of patients with a tricuspid aortic valve (TAV) [5]. Indeed, increased shear stress through the valve caused by higher leaflet coaptation points and asymmetrical BAV leaflet motion can lead to calcification at a young age [6]. ...
Background: To provide a comprehensive analysis of the current literature comparing the outcomes of surgical aortic valve replacement (SAVR) and transcatheter aortic valve replacement (TAVR) in patients with bicuspid aortic stenosis (BAS), with particular attention to BAV morphology in patients undergoing TAVR. Methods: Following PRISMA guidelines, all relevant articles with no design restrictions from PubMed, CCTR (Cochrane Controlled Trials Register), and Google Scholar were screened for inclusion. Studies were included if they reported clinical endpoints for SAVR and TAVR or, in BAS treated with TAVR, for type 1 and non-type 1 morphology. Odds ratio and Cohen’s D were considered as effect size measurements for qualitative and quantitative variables, respectively. Results: A total of eight studies comparing short-term outcomes between SAVR and TAVR and nine studies with outcomes data between type 1 and non-type 1 BAS treated with TAVR were considered for the final analysis. No statistically significant difference was found for what concerns the rates of death, stroke, and acute kidney injury between SAVR and TAVR. In comparison to patients undergoing SAVR, the incidence of PPI (permanent pacemaker implantation) was greater in the TAVR group (OR 0.35, 95% CI 0.15–0.79, p = 0.01), and the frequency of bleeding events was found to be higher among patients undergoing SAVR (OR 4.3, 95% CI 2.9–6.4, p < 0.001). The probabilities of 30-day mortality, stroke, and any bleeding were not significantly affected by bicuspid valve morphology in TAVR patients. PPI or development of new conduction anomalies was found to be more frequent in type 1 anatomies (OR 0.46, 95% CI 0.30–0.70, p <0.001). Mildly lower post-procedural transprothesic gradients were found in patients with type 1 morphology. Conclusions: In BAS patients, TAVR has comparable short-term outcomes rates with SAVR, but higher PPI rates and lower incidence of bleeding events. In patients undergoing TAVR, type 1 BAS is associated with lower postoperative transvalvular gradients but higher PPI rates and conduction abnormalities
... AR is more common in young patients with BAV than in those with AS [1]. AR is usually caused by prolapsing cusps, valvular destruction secondary to infective endocarditis (IE), or post-valve surgery in children, while adult patients may functionally develop AR when the ascending aorta is dilated [20]. BAV and degenerative AR are the most common causes of primary AR [21]. ...
The bicuspid aortic valve (BAV) is the most common congenital cardiovascular malformation. Patients with BAV are at higher risk of other congenital cardiovascular malformations and valvular dysfunction, including aortic stenosis/regurgitation and infective endocarditis. BAV may also be related to aortic wall abnormalities such as aortic dilatation, aneurysm, and dissection. The morphology of the BAV varies with the presence and position of the raphe and is associated with the type of valvular dysfunction and aortopathy. Therefore, accurate diagnosis and effective treatment at an early stage are essential to prevent complications in patients with BAV. This pictorial essay highlights the characteristics of BAV and its related congenital cardiovascular malformations, valvular dysfunction, aortopathy, and other rare cardiac complications using multimodal imaging.
... Local variations in SF expression and orientation affects AVIC mechanical function [2,3,[5][6][7], and can serve as a biophysical marker of AVIC activation levels and phenotypic state [2,3,[5][6][7][8][9]. This is supported by ex-situ studies of diseased valves which showed that AVIC activation levels, as assessed by expression levels of α-SMA, are elevated in diseases such as calcific AV disease [10,11], bicuspid AV disease [12,13], and fibrotic cardiac disease [14]. Thus, it is clear that SFs play a critical role in AVIC function, yet our knowledge of their pathophysiological function remains quite limited. ...
Within the aortic valve (AV) leaflet exists a population of interstitial cells (AVICs) that maintain the constituent tissues by extracellular matrix secretion, degradation, and remodeling. AVICs can transition from a quiescent, fibroblast-like phenotype to an activated, myofibroblast phenotype in response to growth or disease. AVIC dysfunction has been implicated in AV disease processes, yet our understanding of AVIC function remains quite limited. A major characteristic of the AVIC phenotypic state is its contractile state, driven by contractile forces generated by the underlying stress fibers (SF). However, direct assessment of the AVIC SF contractile state and structure within physiological three-dimensional environments remains technically challenging, as the size of single SFs are below the resolution of light microscopy. Therefore, in the present study we developed a 3D computational approach of AVICs embedded in 3D hydrogels to estimate their SF local orientations and contractile forces. One challenge with this approach is that AVICs will remodel the hydrogel, so that the gel moduli will vary spatially. We thus utilized our recent approach [1] to define local hydrogel mechanical properties. The AVIC model included known cytosol and nucleus mechanical behaviors, with the cell membrane assumed to be perfected bonded to the surrounding hydrogel. The AVIC SFs were first modeled as locally unidirectional hyperelastic fibers with an additional contractile force component. An inverse modeling approach was developed to estimate SF local orientations and contractile forces. Results indicated substantial heterogeneity in SF force and orientations, with the greatest levels of SF alignment and contractile forces occurred at AVIC protrusions. The addition of a dispersed SF orientation did not substantially alter these findings. To the best of our knowledge, we report the first fully 3D computational contractile cell models which can predict locally varying stress fiber orientation and contractile force levels. 2
... BAV is the most common congenital heart malformation in 1-2% of the general population [5]. It carries a higher risk of complications such as aortic dilation, valvular dysfunction, and even aortic valve thrombosis, which are commonly related to coagulation disorders and may even occur spontaneously [2]. ...
Thrombus formation on a well-conserved bicuspid aortic valve is rare. We encountered a patient with organized thrombus formation on a native bicuspid aortic valve without calcification or stenosis, which was found occasionally during an elective operation for ascending aorta replacement surgery. The location of the thrombus was just at the orifice of left coronary artery, which produced the atherosclerosis-like symptoms such like exertional chest tightness and dyspnea. And these are no apparent predisposing causes of thrombosis could be ascertained postoperatively. The patient is in excellent condition 6 months after the operation. The lesson we learned from our case is that when the patient's symptom can't correspond with his or her diagnosis, we should ask more questions, evaluate the patient thoroughly and make the differential diagnosis as possible as we can. And the surgery can be performed aggressively when patient's symptoms cannot be figured out by physical examination, not only for pathologic confirmation but also for the prevention of life-threatening complications that can caused by either condition.
... Bicuspid aortic valve (BAV) is the most common congenital heart defect with prevalence of 0.5% to 2% in the general population, and 75% predominance among men [1]. It is often associated with other cardiac anomalies such as ventricular septal defect, patent ductus arteriosus, coarctation of the aorta, and the most frequent associated finding is dilation of the proximal ascending aorta [2]. The clinical presentation of patients with BAV can significantly vary from significant stenosis development already in childhood to milder degenerative changes and dysfunction in old age [2]. ...
... It is often associated with other cardiac anomalies such as ventricular septal defect, patent ductus arteriosus, coarctation of the aorta, and the most frequent associated finding is dilation of the proximal ascending aorta [2]. The clinical presentation of patients with BAV can significantly vary from significant stenosis development already in childhood to milder degenerative changes and dysfunction in old age [2]. BAV is more prone to accelerated degeneration over time so the most common clinical presentation is in the form of stenosis with varying degree of insufficiency and typically results in mild to moderate concentric hypertrophy of the left ventricle [1,2]. ...
... The clinical presentation of patients with BAV can significantly vary from significant stenosis development already in childhood to milder degenerative changes and dysfunction in old age [2]. BAV is more prone to accelerated degeneration over time so the most common clinical presentation is in the form of stenosis with varying degree of insufficiency and typically results in mild to moderate concentric hypertrophy of the left ventricle [1,2]. In patients with symptomatic BAV, the treatment options are surgical or transcatheter aortic valve replacement (TAVR) [3], and depending on the diameter of the ascending aorta (> 45-55 mm) and associated comorbidities, replacement of the ascending aorta is recommended [4]. ...
Due to its prevalence of 0.5% to 2% in the general population, with a 75% predominance among men, bicuspid aortic valve is the most common congenital heart defect. It is frequently accompanied by other cardiac congenital anomalies, and clinical presentation can vary significantly, with stenosis being the most common manifestation, often resulting in mild to moderate concentric hypertrophy of the left ventricle. Echocardiography is the primary diagnostic modality utilized for establishing the diagnosis, and it is often the sole diagnostic tool relied upon by clinicians. However, due to the heterogeneous clinical presentation and possible associated anomalies (which are often overlooked in clinical practice), it is necessary to employ various diagnostic methods and persist in finding the accurate diagnosis if multiple inconsistencies exist. By employing this approach, we can effectively manage these patients and provide them with appropriate treatment. Through a clinical case from our practice, we provide an overview of the literature on bicuspid aortic valve with aortophaty and the possible association with hypertrophic cardiomyopathy, diagnostic methods, and treatment options. This review article highlights the critical significance of achieving an accurate diagnosis in patients with bicuspid aortic valve and significant left ventricular hypertrophy. It is crucial to exclude other possible causes of left ventricular outflow tract obstruction, such as sub- or supra-aortic obstructions, and hypertrophic cardiomyopathy.
... Bicuspid aortic valves are the most common congenital heart disease, and fusion of the left and right coronary cusps is the most common phenotype. 3,9 At the time of evaluation, this patient had not developed valvular dysfunction. The development of aortic stenosis often occurs earlier than in tri-leaf patients and is suggested to be related to leaflet orientation. ...
... The development of aortic stenosis often occurs earlier than in tri-leaf patients and is suggested to be related to leaflet orientation. 9 Aortic regurgitation is also a common finding in BAV patients and is independent of valve stenosis. 9 At baseline, patients with BAV generally have larger aortic size, which predisposes the development of early root and ascending aortic dilation. ...
... 9 Aortic regurgitation is also a common finding in BAV patients and is independent of valve stenosis. 9 At baseline, patients with BAV generally have larger aortic size, which predisposes the development of early root and ascending aortic dilation. 9 Given these findings in conjunction with the patient's other congenital disease, it is paramount that annual lifelong cardiology evaluation is completed. ...
We report a case of incidental detection of severe aortic coarctation, severe secundum atrial septal defect, and bicuspid aortic valve in an active‐duty military service member. A single complex minimally invasive procedure successfully corrected his coarctation and atrial septal defect allowing this patient to continue military service. A single complex minimally invasive procedure successfully corrected this military service member's severe aortic coarctation and severe secundum atrial septal defect resulting in symptom resolution and allowing him to continue his military career.
... However, men have a twofold increased risk of developing aortic stenosis [4]. A noteworthy fact is that congenital heart valve diseases affect 1 to 2% of all newborns [11,12]. Most of the cases are related to the presence of a bicuspid aortic valve, characterized by two functional leaflets rather than three, which will eventually lead to the early development of aortic stenosis. ...
Every year, thousands of aortic valve replacements must take place due to valve diseases. Tissue-engineered heart valves represent promising valve substitutes with remodeling, regeneration, and growth capabilities. However, the accurate reproduction of the complex three-dimensional (3D) anatomy of the aortic valve remains a challenge for current biofabrication methods. We present a novel technique for rapid fabrication of native-like tricuspid aortic valve scaffolds made of an alginate-based hydrogel. Using this technique, a sodium alginate hydrogel formulation is injected into a mold produced using a custom-made sugar glass 3D printer. The mold is then dissolved using a custom-made dissolving module, revealing the aortic valve scaffold. To assess the reproducibility of the technique, three scaffolds were thoroughly compared. CT (computed tomography) scans showed that the scaffolds respect the complex native geometry with minimal variations. The scaffolds were then tested in a cardiac bioreactor specially designed to reproduce physiological flow and pressure (aortic and ventricular) conditions. The flow and pressure profiles were similar to the physiological ones for the three valve scaffolds, with small variabilities. These early results establish the functional repeatability of this new biofabrication method and suggest its application for rapid fabrication of ready-to-use cell-seeded sodium alginate scaffolds for heart valve tissue engineering.
... The bicuspid aortic valve is the most frequent congenital heart defect in the general population. In echocardiographic and autopsy studies, the incidence of bicuspid aortic valve ranges from 0.16% in Asian (1) to 2% in the Western populations (2,3), and is more frequent in males (4). The abnormal architecture of the valve makes the leaflets susceptible to haemodynamic stress, leading to valvular thickening, calcification, and increased rigidity and narrowing of the aortic orifice (5). ...
Background:
Congenital bicuspid aortic valve affects up to 2% of the general population. It occurs in complex congenital heart defects or in syndromes such as Turner, Marfan, or Loeys-Dietz. However, the majority of bicuspid aortic valves are considered to manifest as isolated malformations.
Methods:
We aimed to assess retrospectively associated cardiovascular malformations in 200 individuals with bicuspid aortic valve considered to occur as an isolated manifestation. All individuals underwent transthoracic echocardiography, 164 thoracoabdominal tomographic imaging, and 84 coronary artery imaging. In addition, we also performed a meta-analysis of data from the literature to assess the occurrence of associate malformations.
Results:
In our retrospective cross-sectional study collective, the mean age was 45±15 years, 154 (77%) individuals were male. Anatomy of bicuspid aortic valve according to Schaefer was type 1 in 142 (71%), type 2 in 35 (18%), type 3 in 2 (1%), unicuspid in 6 (3%), and unclassified in 15 (8%) individuals. Coarctation of the aorta had 4.2% of individuals, 3.6% had coronary anomalies. No individual had a patent ductus arteriosus, 0.5% had atrial and ventricular septal defect each, 1.5% mitral valve prolapse. No individual had a tricuspid valve prolapse. Our meta-analysis identified in cohorts with isolated bicuspid aortic valve 11.8% (95% CI: 7.7-16.0%) individuals with aortic coarctation, 3.7% (95% CI: 1.2-6.1%) with coronary anomalies, 3.3% (95% CI: 0.0-6.7%) with patent ductus arteriosus, 5.9% (95% CI: 1.3-10.5%) with ventricular septal defect and 1.6% (95% CI: 1.1-2.1%) with mitral valve prolapse.
Conclusions:
Individuals with isolated bicuspid aortic valve may exhibit a variety of associated cardiovascular malformations and therefore screening for associated malformations may be warranted.
... The most common congenital cardiac anomaly is the bicuspid aortic valve (BAV) [8]. It is found in 1-2% of the general population and is known to cause early aortic calcification, leading to early aortic stenosis [8]. ...
... The most common congenital cardiac anomaly is the bicuspid aortic valve (BAV) [8]. It is found in 1-2% of the general population and is known to cause early aortic calcification, leading to early aortic stenosis [8]. In contrast to BAV, aortic insufficiency has been reported as the most common aortic valve abnormality in QAV [2]. ...
Quadricuspid aortic valve (QAV) is a rare congenital cardiac anomaly. A normal aortic valve has three cusps, but cases of unicuspid, bicuspid, and quadricuspid aortic valves have been reported. Although QAV usually appears as an isolated congenital anomaly, it may also be associated with other heart conditions. In comparison to the bicuspid aortic valve (BAV) that results in aortic stenosis by the early 50s due to age-related early calcification, this case series suggests that patients with QAV are likely to develop moderate to severe aortic regurgitation in their late 40s or early 50s. Most patients with QAV require tricuspidalization, which is the preferred method for QAV surgical repair, especially in patients with associated aortic regurgitation. The condition was previously diagnosed intraoperatively or postpartum. Today, with imaging modalities like transthoracic echocardiography (TTE), transesophageal echocardiography (TEE), and cardiac magnetic resonance imaging, more cases of QAV have been diagnosed in asymptomatic individuals. We present a case series of a previously healthy 49-year-old male and a 47-year-old female who had similar presentations of acute congestive heart failure (CHF). An echocardiogram confirmed that both patients had heart failure with reduced ejection fraction, dilated cardiomyopathy, QAV, and moderate to severe aortic valve regurgitation on echocardiogram. The male patient had an ejection fraction (EF) of 30-35% and a QAV with partial fusion of the leaflets, resulting in a functionally bicuspid aortic valve, while the female patient had an EF of 25-30% with what appears to be a type III QAV according to Nakamura et al. classification. The purpose of this case series is to highlight another potential late complication of congenital QAV.
