Search Results (56)

Transcatheter aortic valve replacement (TAVR) was first introduced as a minimally invasive treatment for patients with severe aortic stenosis (AS) who are at high or intermediate surgical risk. Recently, its application has expanded to include younger and lower-risk patients, establishing TAVR as a less invasive alternative to surgical aortic valve replacement (SAVR) across the entire surgical spectrum. The expanding utilization of TAVR has driven significant advancements that have greatly enhanced its safety and effectiveness, resulting in a substantial reduction in complications such as paravalvular leak, conduction abnormalities, and periprocedural strokes. Numerous trials have demonstrated the potential superiority of TAVR over conventional surgery in achieving favorable clinical outcomes. Furthermore, the increasing number of long-term trials has provided valuable insight into TAVR outcomes in previously under-studied populations, including patients with complex anatomies. However, significant challenges remain, particularly in ensuring the long-term durability of transcatheter valves, with younger patients likely to outlive their bioprosthetic valves. Consequently, the focus is shifting towards lifetime management strategies, including considerations for coronary re-access, the risk of coronary obstruction, and prosthesis–patient mismatch. This review explores key developments in the field, including TAVR for aortic regurgitation and bicuspid anatomy, the emerging role of TAVR in moderate and asymptomatic AS, and innovations in valve design and procedural planning. We also examine novel imaging tools, adjunctive technologies, and strategies to address coronary access and re-intervention. As long-term data accumulate, these evolving trends will shape the future of TAVR and its role in managing aortic valve disease across increasingly complex clinical scenarios. Full article

Endothelial dysfunction (ED) has been identified as a precursor to micro- and macroangiopathic complications and an independent risk factor for major adverse cardiac events (MACEs). Recent studies have identified a novel risk factor for ED: severe aortic stenosis (AS). Traditionally linked to other established risk factors for endothelial cell dysregulation, AS has emerged as a contributor to ED, which is supported by the improvement of endothelial function following transcatheter (TAVR) or surgical (SAVR) interventions. Furthermore, the observation of ED in patients with a dysfunctional bicuspid aortic valve (BAV) at a younger age suggests a distinct impact of AS on ED. A promising hypothesis is a hemodynamic theory suggesting that changes in the shear stress of the ascending aortic wall and peripheral vessels, along with subclinical hemolysis caused by turbulent blood flow, could lead to reduced nitric oxide (NO) bioavailability. Current hypotheses on ED have yet to consider the influence of concomitant aortic stenosis in BAV. Additionally, studies examining potential intravascular hemolysis in BAV patients or the impact of surgical treatment of this defect on endothelial function are scarce. The aim of this review is to summarize the current knowledge on the mechanisms underlying ED in patients with AS or BAV and to identify possible directions for future research. Full article

Aortic valve stenosis (AS) is a valvular heart disease that imposes a high afterload on the left ventricle (LV) due to restricted opening of the aortic valve, resulting in LV hypertrophy. Severe AS can lead to syncope, angina pectoris, and heart failure. The number of patients with AS has been increasing due to aging populations, the growing prevalence of lifestyle-related diseases, and advances in diagnostic technologies. Therefore, accurate diagnosis and appropriate treatment of AS are essential. In recent years, transcatheter aortic valve implantation (TAVI) has become feasible, and the number of procedures has rapidly increased, particularly among elderly patients. As treatment options for AS expand and diversify, detailed pre-procedural evaluation has become increasingly important. In particular, diagnostic imaging modalities such as computed tomography (CT) have advanced significantly, with notable improvements in image quality. With recent advancements in CT technology—such as increased detector rows, faster gantry rotation speeds, new image reconstruction methods, and the introduction of dual-energy imaging—the scope of cardiac assessment has expanded beyond the coronary arteries to include valves, myocardium, and the entire heart. This includes evaluating restricted AV opening and cardiac function using four-dimensional imaging, assessing AV annulus diameter and AS severity via calcium scoring with a novel motion correction algorithm, and detecting myocardial damage through late-phase contrast imaging using new reconstruction techniques. In cases of pre-TAVI evaluation or congenital bicuspid valves, CT is also valuable for assessing extracardiac structures, such as access routes and associated congenital heart anomalies. In addition, recent advancements in CT technology have made it possible to significantly reduce radiation exposure during cardiac imaging. CT has become an extremely useful tool for comprehensive cardiac evaluation in patients with aortic stenosis, especially those being considered for surgical treatment. Full article

Bicuspid aortic valve (BAV) is the most common congenital heart anomaly, affecting an estimated 0.5% to 0.77% of the general population. This condition occurs when the aortic valve has only two cusps instead of the usual three, disrupting normal valve function and increasing the risk of various cardiovascular diseases. Often asymptomatic in its early stages, BAV can gradually progress, leading to stenosis, valve insufficiency, and abnormalities of the ascending aorta. One particularly concerning aspect is its potential association with sudden cardiac death (SCD). The aim of this literature review is to examine the relationship between BAV and the risk of SCD, highlighting the pathogenic variants and pathophysiological mechanisms involved while emphasizing the significance of valve classification and its clinical implications. Additionally, it explores current research gaps and future directions to enhance early identification of at-risk individuals and reduce the incidence of SCD. Full article

Bicuspid aortic valve (BAV) is the most common congenital heart disease, affecting 0.5–2% of the population and often leading to early aortic valve degeneration. While surgical aortic valve replacement (SAVR) remains the gold standard for treating severe bicuspid aortic stenosis (AS), transcatheter aortic valve implantation (TAVI) is emerging as a viable alternative in selected BAV anatomies. Initial experiences with first-generation transcatheter heart valves (THVs) showed the feasibility of this technique, but were associated with lower device success rates and higher complications, such as paravalvular leak (PVL) and pacemaker implantation. Advancements in second- and third- generation THVs, together with better pre-procedural imaging assessment and growing operator experience, have significantly enhanced TAVI outcomes in BAV patients, with results now comparable to those seen in tricuspid aortic valves (TAVs). Proper patient selection, pre-procedural sizing, and device implantation are key to improving TAVI success in BAV. Recent registry data on contemporary THV platforms demonstrate improved procedural success, hemodynamic performance, and the safety of TAVI in BAV. However, higher rates of PVL, pacemaker implantation, and strokes remain concerns. Ongoing advancements in THV design and procedural techniques will further enhance outcomes for this challenging population. Up to the present, there are no dedicated THVs for BAV, but the latest-generation THVs offer promising results. Full article

Background/Objectives: Congenital bicuspid aortic valve (BAV) signifies the most frequent category of congenital cardiovascular anomaly globally, occurring in approximately 0.5–2% of the general population worldwide. BAV is a major cause of thoracic aortopathy, encompassing aortic stenosis, aortic root dilation with regurgitation, aortic dissection, and aortic aneurysms, consequently leading to substantial late-onset morbidity and mortality. Accumulating evidence convincingly demonstrates the strong genetic basis underpinning BAV, though the inheritable reasons responsible for BAV in most patients remain largely obscure. Methods: A genome-wide genotyping with 400 polymorphic genetic markers followed by linkage analysis, haplotype assay, and sequencing analysis of candidate genes was conducted in a 4-generation BAV kindred of 47 individuals. Biochemical assays were performed to evaluate the functional effect of the identified mutation on TBX20. Results: A novel BAV-causative locus was mapped to chromosome 7p14. A sequencing assay of the genes within the mapped chromosomal region (locus) unveiled that only the c.656T>G (p.Ile219Arg) variation of TBX20 was in co-segregation with BAV in the entire pedigree. The missense mutation was not uncovered in 322 healthy persons employed as control individuals. Functional deciphers revealed that the mutation significantly decreased the transcriptional activation of the representative target gene ANP and the binding ability to the ANP promoter and impaired the intranuclear distribution of TBX20. Conclusions: This investigation maps a new genetic locus (chromosome 7p14) linked to BAV and uncovers TBX20 as a novel causative gene for familial BAV, adding more insight into the mechanisms underlying BAV and providing a molecular target for the individualized management of BAV. Full article

The bicuspid aortic valve (BAV) is commonly associated with the early degeneration of the aortic valve. Up to 45% of BAV patients over the age of 50 develop aortic stenosis (AS). Although published data indicate a robust interplay between lipids and calcific AS in tricuspid aortic valve patients, the studies on the BAV population are lacking. We aimed to evaluate the association between selected lipid markers and the occurrence of AS in BAV patients. Methods: The study included 76 adults (21 female) with a BAV diagnosed by echocardiography, divided by age and AS diagnosis. Biochemical parameters concentrations in serum were measured: high density lipoprotein cholesterol (HDL-C) levels by standard enzymatic colorimetric tests, low density lipoprotein cholesterol (LDL-C) levels by the Friedewald formula, apolipoprotein A-I (Apo AI) and apolipoprotein B (Apo B) serum concentration by the nephelometric method, and paraoxonase-1 activity (PON-1 ASE) and arylesterase activity (PON-1 ARE) based on paraoxon and phenyl acetate hydrolysis. Results: A total of 54 patients (15 female) were more than 45 years old and 22 (6 female) were 45 or less years old. BAV patients with AS aged ≤45 had higher levels of Apo B, compared to those without AS [110.5 (102–132) vs. 95.6 (77–101) mg/d; p 0.044]. Similarly, Apo B/Apo AI ratio was higher in BAV patients with AS aged ≤45, compared to those without AS [(0.8 (0.7–1) vs. 0.6 (0.5–0.7); p 0.029]. In the group aged ≤45, Apo B showed a positive correlation with the aortic valve peak transvalvular velocity (AV Vmax) measurement (R Spearman 0.6, p 0.004). We found also that, among young BAV patients, those with AS had a lower level of PON-1 ARE compared to the cohort without AS [63.4 (52–80) vs. 85.3 (70–102); p 0.012]. We did not find any differences in lipid parameters in patients aged >45. Conclusions The metabolic link between Apo B level and Apo B/AI ratio with AS presence in BAV patients under 45 years of age suggests a significant impact of these parameters on the earlier development of AS in the BAV population. Molecules associated with high density lipoprotein and its antioxidant function, such as PON1, are valuable markers for AS development, compared to HDL-C and LDL-C levels. Full article

Bicuspid aortic valve (BAV) stenosis, a common congenital condition, presents unique challenges for transcatheter aortic valve replacement (TAVI) due to anatomical variations like cusp morphology, coexisting aortopathy and calcification. TAVI offers a viable option for BAV patients with refinements in technique and technology, though ongoing research is essential to optimize patient-specific approaches and long-term results. Key considerations for TAVI in BAV include precise valve sizing, positioning, and the need for rigorous pre-procedural imaging to mitigate risks such as paravalvular leak and stroke. Early results show TAVI’s safety and efficacy are comparable to surgery, though BAV patients undergoing TAVI often are exposed to higher rates of post-procedural pacemaker implantation. Emerging data on next-generation self-expandable (SE) and balloon-expandable (BE) valves reveal that while both offer success in this complex anatomical aortic valve variation, gaps remain in the long-term durability and management of BAV-related aortopathy. This review examines the latest advancements in TAVI for BAV, emphasizing how specialized approaches and device selection address BAV’s complexities. Full article

Deregulation of micro-RNAs (miRNAs) may contribute to mechanisms of injury in the bicuspid aortic valve (BAV). Our objective was to investigate the expression of miRNAs in aortic tissue from patients who underwent aortic valve replacement for aortic stenosis and its relationship with aortic dilatation. The study included 78 patients, 40 with bicuspid aortic valve (BAV) and 38 with tricuspid aortic valve (TAV). The expression of miRNA-17-5p, hsa-let-7e, and miRNA-196a-5p in human aortic tissue was evaluated by a reverse transcriptase polymerase chain reaction (RT-qPCR). Comparative analysis between patients with BAV and controls with TAV explored the association between the miRNAs and aortic dilatation (AD), calcification, valve dysfunction, and stenosis. The results showed that the expression levels of miRNA-Let-7e-5p and miRNA-196-5p were mostly increased in patients with BAV and aortic dilatation (p = 0.01 and p = 0.01), respectively. In contrast, the levels of miRNA-17a-5p (p < 0.20) were lower but without a statistically significant difference. The downregulation of miRNA-17a-5p and the upregulation of miR-Let-7e-5p and miR-196-5p were related to an increased risk of AD risk. Subjects with BAVs with or without double aortic lesions had higher expression levels of Let-7e-5p and miRNA-17a-5p vs. TAV. In all patients, we found an inverse correlation of MiRNA-196-5p with High-Density Lipoprotein-Cholesterol (HDL-C) and indexed valvular area. In subjects with a higher expression of miRNA196, lower levels of HDL-C correlation (r²) [r² 0.27 (p = 0.02)] and a lower indexed valvular area [r² 0.28 (p = 0.05)] were observed. In the specific analysis for each patient group, it was found that in control subjects with tricuspid aortic valve (TAV), miRNA-196-5p had a positive correlation with valvular calcification (r² = 0.60, p = 0.02). Deregulation of miRNAs in the aortic tissue of a BAV may influence valvular stenosis, dysfunction, and concomitant aortic dilation. This information could help to define potential therapeutic target strategies to improve the prognosis and treatment of BAV. Full article

Bicuspid Aortic Valve (BAV) is a prevalent congenital heart defect, characterized by the presence of two cusps instead of three, leading to significant clinical implications such as aortic stenosis, regurgitation, and aneurysms. Understanding the genetic underpinnings of BAV is essential for early diagnosis and management, which can prevent severe complications like aortic dissection and heart failure. Recent studies have identified critical genes associated with BAV, including NOTCH1, GATA4, GATA5, SMAD6, NKX2.5, BMP2, and ROBO4, all of which play vital roles in aortic valve development and function. Imaging advancements, particularly in cardiac MRI and echocardiography, have enhanced the assessment of valve morphology and hemodynamics, with Wall Shear Stress emerging as a promising biomarker. This review consolidates current genetic and imaging research, elucidating the contributions of genetic variants to the etiology and progression of BAV, while emphasizing the importance of imaging biomarkers in clinical management. The findings aim to improve genetic screening strategies, facilitate early diagnosis, and guide the development of targeted therapies for individuals with BAV. Full article

Transcatheter aortic valve replacement (TAVR) in patients with severe aortic stenosis and raphe-type bicuspid aortic valve (BAV) is still associated with poor outcomes in terms of increased risk of paravalvular regurgitation, stroke, and permanent pacemaker implantation. There is no definitive consensus on the optimal sizing method for prosthesis selection in this setting. The LIRA method is a supra-annular tailored sizing method specifically designed for bicuspid anatomy that might increase accuracy of prosthesis choice in BAV patients and improve TAVR outcomes. This is the first report of the combination of the novel LIRA method for prosthesis sizing together with the adoption of the technological improvements introduced by the Evolut FX prosthesis as a useful tool for improving outcomes in this high risk subgroup of patients. Full article

Background/Objectives: Bicuspid aortic valve (BAV) is a prevalent congenital heart defect that continues to present a significant challenge in the management of paediatric patients. The assessment of left ventricle systolic function is typically conducted through the measurement of the left ventricular ejection fraction. Currently, left ventricle global longitudinal strain (LV GLS) is regarded as a more sensitive indicator, enabling the quantitative assessment of global and segmental ventricular function through the determination of myocardial deformation. Methods: A prospective study was conducted between 10 January 2023 and 10 January 2024 in a tertiary paediatric cardiology referral centre. The study enrolled children aged 6 to 17 years with BAV who were undergoing periodic evaluation, as well as a control group. The primary objective was to analyse the systolic function (global and segmental LV) using the classical method (LV EF) and speckle tracking echocardiography (STE). Results: The study group comprised 73 patients with a mean age of 13 years and was predominantly male. The control group comprised 55 patients. The phenotype IB with aortic regurgitation (AR) was the most prevalent. The results of the STE evaluation in the control group demonstrated mean GLS values between −22.1% and −22.8%. A comparison of the BAV group and the control group revealed a significant difference in GLS for the apical four-chamber view (p = 0.022). Conclusions: Although the analysis of global LV function demonstrated normal values of EF in patients with BAV, the strain analysis revealed significantly reduced strain in the inferior segment and in the apical four-chamber view, as well as in the anterior segment. Further investigation is required to determine whether reduced LV GLS in paediatric patients with BAV will ultimately result in the development of clinical heart failure. Additionally, it is necessary to ascertain whether this can identify patients with subclinical heart failure and whether early detection can result in a reduction in morbidity. Full article

Background: Aortic valvuloplasty for bicuspid aortic valve carries a risk of postoperative stenosis. We evaluated the haemodynamic differences between aortic valvuloplasty for bicuspid aortic valve, tricuspid aortic valve, and aortic valve replacement by echocardiography. We also assessed whether a higher postoperative pressure gradient affects the outcomes of aortic valvuloplasty for bicuspid aortic valve. Methods: From 2014 to 2021, patients undergoing aortic valvuloplasty were classified into aortic valvuloplasty for bicuspid aortic valve (Group-PB) and aortic valvuloplasty for tricuspid aortic valve (Group-PT). We also enrolled patients undergoing aortic valve replacement (Group-R) between 2002 and 2021. Mid-term outcomes were compared within Group-PB based on peak pressure gradients of ≥20 mmHg (subgroup-H) and <20 mmHg (subgroup-L). Results: Group-PB included 42 patients and Group-PT included 70 patients. Both 7-day and 1-year echocardiography showed the highest peak/mean pressure gradients in Group-PB (n = 41) and the lowest values in Group-PT (n = 67). Propensity scoring analysis yielded similar results to an unadjusted analysis. The mid-term outcomes were not significantly different between subgroup-H (n = 20) and subgroup-L (n = 22), with rates of freedom from aortic regurgitation >II at 5 years of 94.4% vs. 94.4% (p = 0.749) and freedom from reoperation of 94.4% vs. 100.0% (p = 0.317), respectively. Conclusions: Aortic valvuloplasty for tricuspid aortic valve shows favourable valve function in the early postoperative period, whereas aortic valvuloplasty for bicuspid aortic valve has a risk of postoperative stenosis. However, a high pressure gradient (peak pressure gradient of ≥20 mmHg) after aortic valvuloplasty for bicuspid aortic valve does not impact mid-term outcomes. Full article

Bicuspid aortic stenosis is a common pathology, typically seen in patients a decade younger than those with tricuspid valves. Surgical aortic valve replacement has been the mainstay treatment for bicuspid disease, especially considering the prevalence of concomitant aortic aneurysmal pathology. Transcatheter aortic valve replacement has shown equivalent results in bicuspid compared to tricuspid pathology in highly selected patient populations in single-arm registries and observational studies. For older patients with favorable bicuspid pathology, TAVR is reasonable. However, as younger patients with longer life expectancy are now being treated with TAVR, what is “best” is a question only answered by a well-designed randomized controlled trial. Herein, we describe the current evidence for treating bicuspid aortic stenosis and provide a framework for future trials. Yet, the question of equipoise remains, and who will we enroll? Full article

Bicuspid aortic valve disease is the most prevalent congenital heart disease, affecting up to 2% of the general population. The presentation of symptoms may vary based on the patient’s anatomy of fusion, with transthoracic echocardiography being the primary diagnostic tool. Bicuspid aortic valves may also appear with concomitant aortopathy, featuring fundamental structural changes which can lead to valve dysfunction and/or aortic dilatation over time. This article seeks to give a comprehensive overview of the presentation, treatment possibilities and long-term effects of this condition. The databases MEDLINE, Embase, and the Cochrane Library were searched using the terms “endocarditis” or “bicuspid aortic valve” in combination with “epidemiology”, “pathogenesis”, “manifestations”, “imaging”, “treatment”, or “surgery” to retrieve relevant articles. We have identified two types of bicuspid aortic valve disease: aortic stenosis and aortic regurgitation. Valve replacement or repair is often necessary. Patients need to be informed about the benefits and drawbacks of different valve substitutes, particularly with regard to life-long anticoagulation and female patients of childbearing age. Depending on the expertise of the surgeon and institution, the Ross procedure may be a viable alternative. Management of these patients should take into account the likelihood of somatic growth, risk of re-intervention, and anticoagulation risks that are specific to the patient, alongside the expertise of the surgeon or centre. Further research is required on the secondary prevention of patients with bicuspid aortic valve (BAV), such as lifestyle advice and antibiotics to prevent infections, as the guidelines are unclear and lack strong evidence. Full article