This study aimed to evaluate the diagnostic yield of fetal echocardiography (f-Echo) in detecting significant congenital heart disease (CHD) in pregnancies with a first-degree relative with a history of bicuspid aortic valve (BAV) and a normal level II obstetric ultrasound. A retrospective review was conducted of all f-Echos performed between 2019 and 2023 for the sole indication of family history of BAV. Cases with additional indications or affected nonfirst-degree relative were excluded. Postnatal transthoracic echocardiography (t-Echo) data were reviewed when available. Significant CHD was defined as requiring catheter or surgical intervention in the first year of life. Sixty-five f-Echos were included (mean gestational age: 26.6 ± 3.7 weeks). No significant CHD was identified prenatally. Postnatal t-Echo was performed in 41 (63%) cases, with no significant CHD detected. Two (5%) infants were diagnosed postnatally with BAV, neither requiring intervention during the study interval. Minor findings included one case each of pulmonary valve stenosis and atrial septal defect. In pregnancies with a first-degree relative with BAV and a normal obstetric ultrasound, f-Echo showed no added diagnostic value for detecting significant CHD. Based on the state's birth rate (approximately 35,000/year), BAV prevalence (1-2%), and an average family size of 3.08, an estimated 733 to 1,466 pregnancies annually in Arkansas could qualify for f-Echo under current guidelines. At a cost of $1,000 to 5,000 per study, this translates to an annual healthcare expenditure ranging from $733,000 to 7.33 million. These findings support more targeted screening and the need for multicenter studies. · No significant CHD detected with f-Echo.. · Postnatal t-Echo remains definitive.. · Routine f-Echo may add limited value.. · Cost implications warrant reconsideration.

Despite the technically challenging nature of valve-sparing root replacement, restoration of aortic valve competence can be achieved through a complete understanding of the aortic root anatomy and pathophysiology. In this review, we discuss the physiology of normal aortic root function as well as pathophysiologic mechanisms contributing to aortic valve incompetence. Preoperative planning for valve-sparing root replacement is discussed, including the use of imaging to guide surgical decision-making. Pitfalls and pearls of the critical technical steps for both valve-sparing root replacement and repair of both tricuspid and bicuspid aortic valves are provided. Finally, current evidence guiding best practices in valve-sparing root replacement and aortic valve repair is presented to support decision-making for patient selection.

From the first aortic valve replacement (AVR) in 1960, surgical approaches evolved toward reduction of surgical invasiveness and enhanced recovery. Conventional minimally invasive approaches still require postoperative opioid use and chest restrictions. To further minimize aortic valve surgery, a robotic technique for transcervical AVR (TC-AVR) was developed to avoid major chest wall incisions and to facilitate expedited recovery. Following extensive cadaver simulations, the TC-AVR was performed in 7 patients between March and July 2025. The procedure includes cervical incision, similar to a thyroidectomy approach, representing a working port for robotic AVR. Cardiopulmonary bypass is established with femoral cannulation. After native valve excision, a conventional prosthetic valve is implanted with a running suture technique. Patients (mean age, 66 ± 8 years; 71% male) presented mostly with severe aortic stenosis, whereas a bicuspid aortic valve was present in 57%. Mean aortic cross-clamp and cardiopulmonary bypass times were 118 and 218 minutes, respectively, with reductions observed in later cases. There was no postimplantation aortic regurgitation, and intraoperative peak and mean gradients were 10 ± 5 mm Hg and 5 ± 2 mm Hg, respectively. There were no deaths. Postoperatively, no opioids were required for patients not needing reoperation (uncomplicated cases; n = 5), with mean in-hospital stay of 3.2 days (2-4 days). Patients resumed daily activities soon after discharge, unrestricted by chest precautions. Robotic TC-AVR is feasible, with the potential to offer superior patient recovery compared with traditional approaches. Accordingly, continued development of this technique and specialized instrumentation along with further safety evaluation are warranted and should be actively pursued.

Multivalvular heart disease complicated by advanced heart failure in elderly patients represents a major therapeutic challenge, particularly in the presence of complex anatomy, severe ventricular remodeling, and high surgical risk. Staged transcatheter strategies may offer a less invasive and individualized therapeutic alternative. An elderly patient with end-stage heart failure and severe ventricular remodeling was diagnosed with Sievers type I bicuspid aortic valve with mixed stenosis and severe regurgitation, complicated by functional moderate-to-severe mitral regurgitation. Given the patient's high surgical risk (STS-PROM 12%; EuroSCORE II 15%), a staged transcatheter strategy was adopted. Transfemoral TAVR was first performed with good prosthetic valve function and clinical improvement. Due to persistent symptomatic functional MR, subsequent transcatheter edge-to-edge repair (TEER) was performed three months later, resulting in significant MR reduction, symptomatic improvement, and favorable hemodynamic outcomes at follow-up. This case demonstrates the feasibility and clinical value of a staged transcatheter strategy in high-risk elderly patients with complex multivalvular disease and advanced heart failure. Sequential intervention allows reassessment of residual valve pathology, reduces procedural complexity, and lowers procedural risk compared with simultaneous multivalvular intervention. A staged transcatheter strategy combining TAVR followed by TEER represents a safe, feasible, and effective therapeutic option for selected high-risk patients with complex multivalvular disease and advanced heart failure, offering individualized treatment and meaningful symptomatic improvement when surgical risk is prohibitive.

Calcific aortic valve stenosis is the most common valvular heart disease requiring treatment. Although both tricuspid (AVS) and bicuspid (bAVS) aortic valve stenoses become calcified and functionally impaired in advanced stages, the pathophysiology of these conditions remains unclear. We investigated this using a multitechnology approach on explanted AVS, bAVS, and aortic regurgitation (AR) control valves. Because of technical limitations in processing heavily calcified aortic valve tissue, we established Kawamoto's film method for human aortic valve tissue, enabling the production of well-preserved cryosections and high-quality immunostainings. Both bulk RNA-seq analysis and immunostainings revealed that angiogenesis, inflammation, and calcification are key features distinguishing bAVS from AVS. In fact, we found that angiogenic genes and CD31+ cells, as well as inflammatory genes and CD45+ cells, are significantly elevated in bAVS. The most striking difference between bAVS and AVS was the prominent expression of specific genes involved in tissue calcification, such as matrix metallopeptidase 12 (MMP12), dentin matrix acidic phosphoprotein 1 (DMP1), and proteoglycan 4 (PRG4), along with approximately 1.7-fold increased calcification as shown by micro-CT and von Kossa staining analysis in bAVS. These findings were corroborated in a retrospective analysis of 1108 AVS and bAVS patients who underwent transcatheter aortic valve implantation (TAVI). The bAVS patients exhibited significantly stronger aortic valve calcifications (1.6-fold) but a significantly lower vascular calcification burden. These data further suggest that AVS and bAVS are distinct disease entities, with bAVS exhibiting increased local inflammation, angiogenesis, and calcification, findings that may guide future therapeutic strategies.

The outflow tract (OFT) of the heart carries blood away from the heart into the great arteries. During embryogenesis, the OFT divides to form the aorta and pulmonary trunk, creating the double circulation present in mammals. Defects in this area account for one-third of all congenital heart defect cases. Here, we present comprehensive transcriptomic data on the developing OFT at two distinct time points (embryonic and fetal) and its adult derivatives, the aortic valves, and use spatial transcriptomics to define the distribution of cell populations. We uncover that distinctive embryonic signatures persist in adult cells and can be used as labels to retrospectively attribute relationships between cells separated by a large timescale. Single-cell regulatory network inference identifies GATA6, a transcription factor linked to common arterial trunk and bicuspid aortic valve, as a key regulator of valve precursor cells. Its downstream network reveals candidate drivers of human cardiac defects and illuminates the molecular mechanisms of both normal and pathological valve development. Our findings define the cellular and molecular signatures of the human OFT and its distinct cell lineages, which is critical for understanding congenital heart defects and developing cardiac tissue for regenerative medicine.

Sex-based differences in long-term mortality after TAVR among patients with bicuspid aortic valve.

Outcomes >2 years after transcatheter aortic valve replacement (TAVR) for bicuspid aortic valves (BAV) are scarce, and differences between balloon-expandable transcatheter heart valves (THVs) and self-expandable (SE-THVs) are not yet well established. This study aims to report midterm outcomes after TAVR in patients with BAV and includes 92 patients undergoing TAVR for BAV stenosis at the University Hospital Cologne between 2018 and 2023. The primary outcomes were all-cause death, cardiovascular death, and stroke over a mean follow-up of 2.9 years. Among 92 consecutive patients undergoing TAVR for BAV stenosis (median age: 78.8 years), the incidence of all-cause death, cardiovascular death, and stroke was 26.1%, 18.5%, and 14.1%, respectively, at 2.9 years, with no differences between balloon-expandable THVs and SE-THVs. Pacemaker implantation tended to be more frequent in the SE-THV group. Periprocedural complications were rare, as reflected by a high Valve Academic Research Consortium-3 technical success rate of 96.7%. Postprocedural transvalvular gradients were favorable, with SE-THV showing lower values than balloon-expandable THV (8.0 versus 10.5 mm Hg, P=0.007). Moderate or severe paravalvular regurgitation was uncommon, with no differences between groups, although a trend toward more relevant paravalvular regurgitation with SE-THV was observed. TAVR for BAV is feasible with both SE-THV and balloon-expandable -THV, achieving high technical success and low complication rates. Hemodynamic differences were observed, but mortality and stroke did not differ significantly between groups. Overall outcomes remain suboptimal, highlighting the need for randomized trials comparing valve types and TAVR with surgery for patients with BAV.

Discussion forum response to: High diagnostic yield of family echocardiographic screening of children with bicuspid aortic valve: a critical appraisal and future directions.

High diagnostic yield of family echocardiographic screening of children with bicuspid aortic valve: a critical appraisal and future directions.

The ascending aorta in bicuspid aortic valves - The bad guy?

ObjectiveDeveloping a machine learning (ML) model to predict the risk of ascending aortic dilation in patients with a bicuspid aortic valve (BAV). Using SHapley Additive exPlanations (SHAP) to interpret and visualize the model.MethodsThis study enrolled 102 BAV patients, who were divided into two subgroups based on ascending aorta diameter (dilated and nondilated). All participants underwent routine echocardiography, clinical baseline data collection, and measurement of plasma matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs). Feature selection was performed using univariate analysis followed by the least absolute shrinkage and selection operator (LASSO)–logistic regression (LR) method. Five common ML prediction models were developed: support vector machine (SVM), LR, gradient‐boosting machine (GBM), neural network (NNET), and Naïve Bayes (NB) classifier. To identify the best‐performing predictive model for ascending aortic dilation in BAV patients, an evaluation of predictive efficacy was carried out by employing ROC curves, calibration curves, and DCA curves. Finally, the optimal model’s predictions were interpreted using SHAP.ResultsRandom allocation of the entire patient population resulted in a training set (n = 72) and a test set (n = 30). Application of LASSO‐LR analysis revealed age, plasma MMP‐2, and peak aortic valve velocity (Vmax AV) as independent factors influencing ascending aortic dilation in BAV patients. These predictors were integrated into the subsequent ML model. GBM model achieved the optimal overall performance after 5‐fold cross‐validation. It attained an AUC of 0.982 on the training set, alongside an AUC of 0.915 on the test set. Calibration curves and DCA curves further demonstrate that the model exhibits good calibration and clinical net benefit. According to SHAP analysis, elevated plasma MMP‐2 contributed the most to the GBM model’s predictions, followed by increased age and elevated Vmax AV.ConclusionsThe GBM model offers a valuable tool for predicting ascending aortic dilation in BAV patients. Moreover, SHAP analysis enhances the model’s utility by providing clear, actionable insights for clinical management.

Aortic valve insufficiency has been reported in approximately one-third of patients with a bicuspid aortic valve (BAV). In this study, we describe a new use of an old aortic repair technique and report its mid-term results. Twenty patients with BAV who underwent surgery for aortic valve insufficiency between January 2017 and March 2025 were retrospectively evaluated. All patients who underwent aortic valve repair using the Ozbek technique were included in the study. One case of moderate postoperative aortic insufficiency was identified via transoesophageal echocardiography (TEE), requiring reinforcement of the commissural sutures during the surgery. There was no permanent pacemaker requirement, stroke, revision due to bleeding, or mortality in the early postoperative period. The mean follow-up duration was 59.0 ± 16.8 months; all patients were asymptomatic or had a NYHA Class I functional status. There was moderate aortic insufficiency in seven patients (35%), and no reoperations were needed during the follow-up period. The Ozbek Technique, which allows commissural stabilisation, leaflet augmentation, and preservation of annulus growth potential, might be considered an alternative method for aortic valve repair. Multi-centre studies reporting long-term outcomes are needed to demonstrate the effectiveness of this technique.

The influence of sex and valve phenotype on fibrocalcific composition in severe aortic stenosis evolves with age.

Infertility affects up to 20% of couples in high-income countries, which has led to an increased use of assisted reproductive technology (ART). While previous studies have linked ART to a higher risk of major congenital heart defects (CHD), less is known about the associated risk of minor CHD. As minor CHD are associated with premature early-onset cardiac morbidity and mortality, this study aimed to evaluate the risk of minor CHD in singleton infants conceived via ART compared with in those conceived spontaneously. The Copenhagen Baby Heart Study (CBHS) is a Danish, prospective, multicenter study of neonates delivered between 1April2016 and 31October2018. Included in this cohort study based on CBHS data were singleton infants who met the inclusion criteria andhad undergone neonatal transthoracic echocardiography (TTE) within 60 days after birth. Infants conceived via ART, defined as either in-vitro fertilization or intracytoplasmic sperm injection, were matched randomly, based on sex and maternal age, in a 1:4 ratio with spontaneously conceived singleton infants, who formed the control group. The primary outcome was the diagnosis of minor CHD, defined as a ventricular septal defect (VSD), bicuspid aortic valve (BAV) and/or atrial septal defect (ASD), detected on neonatal TTE. For analysis of ASD, we assessed a subgroup of the matched infants included within the overall cohort who were evaluated using TTE from 15May2017 onwards using an algorithm for the TTE classification of interatrial communications implemented in the CBHS. Using multiple logistic regression analysis, we compared the risk of minor CHD in infants conceived via ART vs those conceived spontaneously, adjusting for maternal age, parental CHD, pregestational diabetes mellitus and maternal body mass index. Of 23 493 infants who met the inclusion criteria, 1630 singletons were conceived by ART. These were matched with 6520 controls who were conceived spontaneously. The subgroup of infants evaluated using the algorithm for TTE classification of interatrial communications comprised 862 infants conceived by ART and 3448 matched infants who were conceived spontaneously. The risk of minor CHD overall (VSD, BAV and/or ASD) in the subcohort evaluated using this algorithm was not significantly different between singleton infants conceived via ART and those conceived spontaneously (adjusted odds ratio, 1.07 (95% CI, 0.83-1.38)). Furthermore, we observed no significant differences in the risk of specific minor CHD subtypes (VSD, BAV and/or ASD) between singleton infants conceived via ART and those conceived spontaneously. Similarly, no significant differences in the risk of minor CHD were observed between ART subtypes, including conception via fresh in-vitro fertilization, fresh intracytoplasmic sperm injection and fresh- and frozen-embryo transfer, or between each ART subtype and infants conceived spontaneously. There was no increased risk of minor CHD in singleton infants conceived via ART compared with singleton infants conceived spontaneously. These findings provide reassuring evidence that ART is unlikely to impose an increased long-term cardiovascular risk attributable to subclinical minor CHD that would otherwise remain undiagnosed in the absence of screening. © 2026 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Bicuspid aortic valve (BAV) is the most common congenital heart lesion that can be associated with significant valve dysfunction in childhood. Surgical interventions for this condition often include pulmonary autograft (Ross procedure) or aortic valve replacement (mechanical - mAVR - or bioprosthetic - bAVR). Aortic valve repair (Rpr) was a common primary intervention for BAV with aortic stenosis at our institution during the study period. This single-center cohort study included 150 adults with BAV and aortic stenosis who underwent 197 surgical interventions during childhood. We investigated important clinical demographic differences, long-term freedom from repeat aortic valve intervention, and long-term freedom from adverse events based upon the type of definitive aortic valve surgery. We hypothesized that Ross and mAVR would demonstrate superior temporal durability, but that mAVR would have more associated adverse events, and that Ross would require more lifetime sternotomies. Ross and mAVR demonstrated superior temporal durability when compared to other aortic valve interventions by pairwise comparison (Rpr vs mAVR p < 0.001; Rpr vs Ross p < 0.001; Rpr vs bAVR p = 0.075; mAVR vs Ross p = 0.924; mAVR vs bAVR p = 0.026; Ross vs bAVR p = 0.001). Ross demonstrated superior freedom from adverse events when compared directly to bAVR (Rpr vs mAVR p = 0.755; Rpr vs Ross p = 0.033; Rpr vs bAVR p = 0.816; mAVR vs Ross p = 0.040; mAVR vs bAVR p = 0.847; Ross vs bAVR p = 0.006). Ross procedure was not associated with an increased number of lifetime sternotomies compared to mAVR. Concurrent Konno procedure was not an independent predictor of worse outcomes.

Role of CTA-derived imaging parameters in bicuspid-aortic valve associated aortopathy.

Determining the aortic root diameter necessitating replacement during acute type A aortic dissection repair.

The online version contains supplementary material available at 10.1007/s12055-025-02146-9.

Computed Tomography Sizing Algorithm for Transcatheter Aortic Valve Implantation in Bicuspid valve: Results from the CASPER Registry.