Congenital Valvular Aortic Stenosis Research Articles

Unravelling supravalvular aortic stenosis in a young patient: look beyond the valve.

A 16-year-old adolescent girl was referred to our tertiary care center for management of a failed aortic valve balloon dilatation procedure for congenital valvular aortic stenosis. The medical records revealed a residual peak-to-peak gradient of 80 mm Hg after 2 dilations with 16 x 6-mm Tyshak balloon (NuMed Inc.).

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to resolve a 9p24 rearrangement segregating in a family through five generations with a congenital heart defect (congenital pulmonary and aortic valvular stenosis and pulmonary artery stenosis), by applying a combined genomic analysis. The analysis involved multiple techniques, including karyotype, chromosomal microarray analysis (CMA), FISH, genome sequencing (GS), RNA-seq, and optical genome mapping (OGM). A complex 9p24 SV was hinted at by CMA results, showing three interspersed duplicated segments. Combined GS and OGM analyses revealed that the 9p24 duplications constitute a complex SV, on which a set of breakpoints matches the boundaries of the CMA duplicated sequences. The proposed structure for this complex rearrangement implies three duplications associated with an inversion of ~ 2Mb region on chromosome 9 and a SINE element insertion at the more distal breakpoint. Interestingly, this genomic structure of rearrangement forms a chimeric transcript of the KANK1/DMRT1 loci, which was confirmed by both RNA-seq and Sanger sequencing on blood samples from 9p24 rearrangement carriers. Altogether with breakpoint amplification and FISH analysis, this combined approach allowed a deep characterization of this complex rearrangement. Although the genotype-phenotype correlation remains elusive from the molecular mechanism point of view, this study identified a large genomic rearrangement at 9p24 segregating with a familial congenital heart defect, revealing a genetic biomarker that was successfully applied for embryo selection, changing the reproductive perspective of affected individuals.

Aortic valve surgery in the pediatric population: pathophysiology, clinical features and management.

There are several conditions where the function of the aortic valve can be compromised in the pediatric population. The aortic valve is composed of three leaflets which are thin and mobile and are attached to the aortic sinuses. Each leaflet is made up of connective tissue, forming a highly ordered network of extracellular matrix components. Together, this enables the aortic valve to open and close more than 100,000 times throughout the day. However, there are conditions where the structure of the aortic valve can be compromised resulting in its function being affected. Conditions such as congenital valvular aortic stenosis and abnormal valve morphology including bicuspid valves often necessitate intervention to improve symptoms and quality of life in children. Other conditions which result in requiring surgical intervention include infective endocarditis and trauma. In this article, we present the common forms of aortic valve disease in the pediatric population and the clinical presentation and pathophysiology of these. We also discuss the range of management options including medical management and percutaneous intervention. Surgical interventions such as Aortic annular enlargement techniques, the Ross procedure and the Ozaki procedure will also be discussed. The effectiveness, complications and long-term outcomes associated with these methods will be explored.

Life satisfaction, health-related quality of life and physical activity after treatment for valvular aortic stenosis.

To investigate health-related quality of life and life satisfaction in children and adolescents treated for isolated congenital valvular aortic stenosis compared to healthy peers. Our second aim was to investigate the relationship between objectively measured physical activity, health-related quality of life and life satisfaction in the same group. Forty-eight patients, 8-18 years of age, were recruited, as well as 43 healthy peers matched for age, gender and residential area. Health-related quality of life was assessed by the KIDSCREEN-52 self-report and parent proxy report, and life satisfaction was evaluated with the Satisfaction With Life Scale. Physical activity was measured with an accelerometer for 7days. Sports participation was self-reported. No differences in the health-related quality of life domains were found between patients and controls in the self-reports. In the proxy reports, parents of the adolescents rated their child's autonomy lower than did the parents of the healthy controls. A negative relationship was found between moderate to vigorous physical activity, sports participation, life satisfaction and the psychological well-being domain in adolescent patients. In children there was a positive relationship between moderate physical activity and the physical and psychological well-being domains. Overall, children and adolescents treated for valvular aortic stenosis reported similar life satisfaction and health-related quality of life as their healthy peers. The negative relationships between intense physical activity and sports participation with health-related quality of life and life satisfaction in adolescent patients might be explained by both physical and psychological factors in these teenagers with complex, lifelong heart disease.

COMBINED SEVERE AORTIC AND PULMONARY VALVULAR STENOSIS IN A CHILD AND ITS MANAGEMENT: A CASE REPORT

Combined congenital aortic and pulmonary valvular stenosis is a rare congenital heart defect. Prevalence of severe combined valvular stenosis of aortic and pulmonary valve accounts about 0.01% and also has association with many syndromes. This combination presents unusual diagnostic as well as management problems. Apart from a few case reports, there is little in the literature on the combined stenosis of both semilunar valves and its management. We present this rare combination in a 9 year old boy which was promptly managed with the balloon valvoplasty without any complications in the same setting under local anesthesia with sedation.

Medical Decision Making for Cardiac MRI with CFD “Detection of Severe Stenosis Using a 5D Model of the Descending Aorta”

The aim of this study is to develop a reliable 5D (x, y, z, time, flow dimension) model for medical decision making. Sophisticated techniques for the assessment of serious stenosis were developed using time-dependent instantaneous pressure gradients through the aorta (flow rate, Reynolds number, velocity, etc.). A 74 cardiac MRI scan and 3057 scans were performed on a 10-year-old patient with congenital valve and valvular aortic stenosis on sensitive MRI and coarctation (operated and then dilated) in the sense of shone syndrome. The occlusion rate was estimated to be 80.5%. The stenosis area was approximately 15 mm long and 10 mm high. The fluid solver (NS) exhibited a significant shear stress of −3.735 × 10−5 Pa within the first 10 iterations. There was a significant drop in the flux mass of −0.0050 (kg/s), as well as high blood turbulence in vortex field lines and low geometry Reynolds cells. The fifth dimension was used for negative velocity prediction (−81.4 cm/s). The discoveries of the 5D aortic simulation are convincing based on the evaluation of its physical and biomedical features.

Critical aortic stenosis in neonates: Balloon valvuloplasty versus surgical valvotomy

Congenital aortic valvular stenosis in neonates is a life-threatening condition requiring urgent management. Therapeutic strategy remains controversial between balloon valvuloplasty (BV) and surgical valvulotomy (SV). We reviewed our long-term single-center experience of neonatal aortic stenosis management and compared aortic valve outcomes regarding BV versus SV. Between 1990 and 2020, 137 patients underwent aortic stenosis treatment (SV [ n = 83] and BV [ n = 54]) with a median age of 5.5 days (range: 0 to 30 days) and a median weight of 3 kg (range: 1.8 to 4.8 kg). Procedure strategy was decided according to the surgeon availability especially at the beginning of the study. Additionally, there was a traditional local protocol favoring balloon in case of left ventricular dysfunction like in many centers. The median follow-up was 6.7 years (up to 28y, 88% complete). We did not report any operative death but the intra-hospital mortality was notably greater for patients after balloon procedure (20.3%) versus SV group (8.4%). The one-year and ten-year patient survival was respectively 90 and 89% in SV group versus 75 and 69% in BV group ( P < 0.005). In our cohort, 77 patients underwent reoperation for persistent aortic stenosis. Most of the patients after BV ( n = 38, 70%) required a reintervention. The median age for reintervention was 2.9 years in the SV group versus 0.3 years for patients in the BV group. Associated intracardiac lesions and the initial valvuloplasty procedure were significantly associated with the risk of reoperation independently of the maximal gradient and the aortic annulus size. Ten-year freedom from reintervention for SV and BV group were respectively 53% and 35% ( P < 0.005, Fig. 1 ). Long-term survival and freedom from reintervention are excellent after surgical valvotomy. However, poor results are obtained when patients had initial left ventricular dysfunction or multiple left ventricular outflow lesions.

Left ventricular myocardial deformation as measure of hemodynamic burden in congenital valvular aortic stenosis

BackgroundChanges in 2D echocardiography (2DE) speckle tracking imaging (STI) derived left ventricular (LV) strain (S) and strain rate (SR) precedes diminution of LV ejection fraction (LVEF) in adult valvular aortic stenosis (AS). We prospectively examined whether 2DE-STI derived multidirectional LV S and SR correlate with AS severity in children using LV mass index (MI) as the principal outcome variable. Methods52 children (10.4 ± 7.3 years) with isolated congenital AS were included; 13 mild (2.5 m/s < Vmax < 3.0 m/s), 25 moderate (3.0 m/s < Vmax < 4.0 m/s), and 14 severe (Vmax > 4.0 m/s). 2DE including Doppler and STI longitudinal strain (LS), strain rate (LSR), circumferential strain (CS), and strain rate (CSR) were measured. Univariate and multivariable linear regressions identified correlations between LVMI and strain indices. ResultsThree clinical and 2DE variables, and four strain indices were independently associated with LVMI. LVMI correlated positively with systolic blood pressure and aortic regurgitation, and negatively with LVEF. LVMI correlated positively with LSR (four-chamber) and CSR (basal), and negatively with segmental CS in the inferior (basal) and anteroseptal (distal) segments. LVMI showed significant inverse association with LS (P = .05), LSR (P < .001), CS (P < .005), and CSR (P < .0001), independent of AS severity. ConclusionsIndependent of clinical and 2DE findings including contemporaneous Doppler estimates of AS gradient, both longitudinal and circumferential strain indices correlate with LVMI as a measure of cumulative hemodynamic burden. This association implies subclinical LV dysfunction.

The Immediate Results of Percutaneous Balloon Aortic Valvuloplasty in Patients with Congenital Aortic Valvular Stenosis

Objective: To assess the immediate-term effectiveness of percutaneous balloon aortic valvuloplasty (PBAV) for congenital aortic stenosis (AS). Design: Early clinical and instrumental evaluation of 34 consecutive PBAV performed from 2001&nbsp;to 2007. Setting:&nbsp; A tertiary referral center for heart diseases (Ibn Al-Bitar Cardiac Center). Patients: Thirty-four patients with congenital valvular AS, twenty-five males and nine females. Interventions: PBAV using Tayshak balloons of different sizes and lengths. Main outcome measures:&nbsp; Doppler and peak to peak pressure gradient (PG) across the aortic valve (AV) before and after valvuloplasty, the percent of PG reduction post dilatation, left ventricular (LV) systolic and diastolic pressures before and after valvuloplasty, number of the aortic cusps, degree of aortic regurgitation (AR) before and after valvuloplasty, left ventricular systolic function before and after valvuloplasty, associated anomalies,&nbsp; and the need for emergency surgery were the main outcome measures. Results: The peak to peak instantaneous PG across the AV was reduced acutely from 102 ± 42.7 (20 - 200) mm Hg to 40 ± 25.5 (10- 140) mm Hg (p&lt;0.001), left ventricular systolic pressure was reduced from 196 ± 48.57 (70 – 280) mm Hg to 133 ± 35.45 (65 – 240) mm Hg (p&lt;0.001) and both are statistically significant. Three patients had inadequate relief of obstruction but in one of them it was mainly due to subaortic obstruction and two patients had severe AR, one of them with acute pulmonary edema and required surgical AV repair. PBAV produced a gradient reduction ≥&nbsp;50% in 29&nbsp;patients, six patients&nbsp;having a residual peak to peak gradient of &gt;50 mm Hg and in one of whom the remaining PG was 70 mm Hg which was mainly subvalvular (50 mm Hg). Six patients had bicuspid AV while the other patients had tricuspid valve. Six had associated anomalies. There was no mortality during the procedure. Severe AR reported in two&nbsp;patients and moderate AR occurred in five patients. One significant complication (acute pulmonary edema) occurred immediately after the dilatation and surgery was done for that patient after few days. Two serious complications occurred during the procedure which responded to routine resuscitation. There was a residual maximum Doppler gradient of &lt;&nbsp;30 mm Hg in 12&nbsp;patients, ≥&nbsp;60 mm Hg in four (one of them had mainly subvalvular gradient) and between 30 to 48 mm Hg in the others. Twenty one patients developed new AR (62%), in fourteen of them (41%) it was mild. Conclusions: PBAV is an effective procedure and offers a good palliation for congenital AS.

The Immediate And Intermediate Results Of Percutaneous Balloon Aortic Valvuloplasty In Patients With Congenital Valvular Aortic Stenosis

Background: Aortic valve stenosis results from minor to severe degrees of aortic valve maldevelopment. This stenosis causes mild to severe obstruction of the left ventricular outflow .&#x0D; Objectives : to study the immediate and intermediate results of percutaneous balloon aortic valvuloplasty in patients with congenital valvular aortic stenosis .&#x0D; Type of the study: A prospective study.&#x0D; Methods: The study was done on thirty five patients with congenital valvular aortic stenosis who had percutaneous balloon aortic valvuloplasty in Ibn Al- Bitar Center for Cardiac Surgery from May 2009 to February 2011.&#x0D; Results: Twenty seven patients were male (77.2%) and 8 patients were female (22.8%), male to female ratio 3.5/ 1, . The aortic valve was bicuspid in 18 patients (51.4%) while 17 patients ( 48.6%) had tricuspid aortic valve. Balloon aortic valvuloplasty was successful in 30 patients (85.7%),. Maximum peak instantaneous Doppler pressure gradient across the aortic valve 24 hours postprocedural echocardiography showed reduction which is statistically significant. New aortic regurgitation had occurred in 15 patients ( 42.8%), it was mild in 9 patients ( 25.6%), moderate in 5 patients ( 14.3%) and severe in 1 patient( 2.9%) which is statistically significant. The follow up of 12.57 ± 3.88 ( 3- 22) months after intervention was done for all patients using echocardiography Doppler study, reveal the maximum peak instantaneous Doppler pressure gradient across the aortic valve was raised which is statistically significant. The aortic regurgitation was present in 18 patients (51.4%) , it was mild in 9 patients (25.7%) , moderate in 6 patients (17.1%) and severe in 3 patients ( 8.6%). No mortality had been reported during the procedure or on follow up.&#x0D; Conclusion: Aortic balloon valvuloplasty is safe and effective procedure in the treatment of congenital valvular aortic stenosis but mild aortic regurgitation is the most common immediate complication of aortic balloon dilatation and progressive aortic regurgitation is a major problem during the intermediate follow up.&#x0D;

Echocardiographic Follow-Up of Congenital Aortic Valvular Stenosis II.

We evaluated the natural course of congenital aortic valvular stenosis (AVS) and factors affecting AVS progression during long-term follow-up with echocardiography. Medical records of 388 patients with AVS were reviewed; patients with concomitant lesions other than aortic regurgitation (AR) were excluded. Trivial AVS was defined as a transvalvular Doppler peak systolic instantaneous gradient of < 25mmHg; mild stenosis, 25-49mmHg; moderate stenosis, 50-75mmHg; and severe stenosis, > 75mmHg. Median age of the patients was 3years (range 0day to 21years), and 287 (74%) were male. A total of 355 patients were followed with medical treatment alone for a median of 4.6years (range 1month to 20.6years), and the degree of AVS increased in 75 (21%) patients. The risk of AVS progression was higher when AVS was diagnosed in neonates (OR 4.29, CI 1.81-10.18, p = 0.001) and infants (OR 3.79, CI 2.21-6.49, p = 0.001). After the infancy period, bicuspid valve morphology increased AVS progression risk (OR 2.4, CI 1.2-4.6, p = 0.034). Patients with moderate AVS were more likely to have AVS progression (OR 2.59, CI 1.3-5.1, p = 0.006). Bicuspid valve morphology increased risk of AR development/progression (OR 1.77, CI 1.1-2.7, p = 0.017). The patients with mild and moderate AVS were more likely to have AR development/progression (p = 0.001). The risk of AR development/progression was higher in patients with AVS progression (OR 2.25, CI 1.33-3.81, p = 0.002). Newborn babies and infants should be followed more frequently than older patients according to disease severity. Bicuspid aortic valve morphology and moderate stenosis are risk factors for the progression of AVS and AR.

Comparison of Balloon Dilatation and Surgical Valvuloplasty in Non-critical Congenital Aortic Valvular Stenosis at Long-Term Follow-Up

The two main modalities used for congenital aortic valvular stenosis (AVS) treatment are balloon aortic valve dilatation (BAD) and surgical aortic valvuloplasty (SAV). This study evaluates residual and recurrent stenosis, aortic regurgitation (AR) development/progression, reintervention rates, and the risk factors associated with this end point in patients with non-critical congenital AVS who underwent BAD or SAV after up to 18years of follow-up. From 1990 to 2017, 70 consecutive interventions were performed in patients with AVS, and 61 were included in this study (33 BADs and 28 SAVs). There were no significant differences in age, sex distribution, PSIG, and AR frequency between the BAD and SAV groups. Bicuspid valve morphology was more common in the BAD group than the SAV group. There was no statistically significant difference between PSIGs and AR development or progression after intervention at the immediate postoperative echocardiography of patients who underwent BAD or SAV (p = 0.82 vs. p = 0.29). Patients were followed 6.9 ± 5.1years after intervention. The follow-up period in the SAV group was longer than that of the BAD group (9.5 ± 5.4 vs. 5.5 ± 4.4 years, p = 0.003). There was no statistically significant difference in the last echocardiographic PSIG between patients who underwent SAV or BAD (51.1 ± 33.5 vs. 57.3 ± 35.1, p = 0.659). Freedom from reintervention was 81.3% at 5years and 57.5% at 10years in the BAD group and 95.5% at 5years and 81.8% at 10years in the SAV group, respectively (p = 0.044). There was no difference in postprocedural immediate PSIG and last PSIG at follow-up and the development/progression of AR between patients who were treated with BAD versus SAV. However, long-term results of SAV were superior to those of BAD, with a somewhat prolonged reintervention interval.

Prolonged complete AV block after balloon aortic valvuloplasty in a child

Balloon aortic valvuloplasty is the first-line treatment option in congenital valvular aortic stenosis in the absence of relevant valvular regurgitation. There are only few reports of rhythm problems after such an intervention.

Progression of Aortic Regurgitation After Different Repair Techniques for Congenital Aortic Valve Stenosis.

We sought to characterize the incidence of AR progression and determine risk factors for AR progression in a consecutive series of infants and children after surgical correction of congenital aortic valvular and supravalvular stenosis. N = 30 patients underwent repair of the aortic valve for isolated congenital aortic valve stenosis (n = 14, 47 %) or combined with aortic regurgitation (AR, n = 16, 53%). N = 27 (90%) had a valvular and n = 3 patients (10%) presented with supravalvular pathology of their aortic valve. In n = 16 patients (53%) a bicuspid and in n = 2 (6%) patients, a unicuspid valve was present. Comparative survival was analyzed using the Cox model and log-rank calculations. Log-rank calculations were performed for variables reaching statistical significance in order to identify differences in survival between groups. Commissurotomy was performed in n = 20 patients, patch implantation in n = 4, cusp shaving in n = 8, cusp prolapse correction in n = 3, and cusp augmentation in n = 4 patients. In patients with combined dysfunction and preoperative AR, AR was successfully reduced by the initial procedure, and postoperatively the overall median AR grade was 1+ (range 0-2.5+, p = 0.001, for AR reduction among patients with any grade of preoperative AR). By the time of follow-up echocardiography, the median AR grade had significantly progressed toward 1.5+ (p = 0.004). At the time of mid-term follow-up at 3.2 years, none of the patients had moderate or severe AR grades >2.5+. Patients with a monocuspid aortic valve and patients who had some kind of patch implantation into their cusps or commissures or shaving of thickened cusps were more likely to present with progression of aortic regurgitation. Monocuspid aortic valve and patch implantation, as well as cusp shaving, are probably linked to AR progression. The standard procedure of commissurotomy results in an absolute rate of AR progression of 40 % over a medium-term follow-up period.

Long-Term Results of Balloon Valvuloplasty as Primary Treatment for Congenital Aortic Valve Stenosis: a 20-Year Review.

In the presence of new surgical techniques, the treatment of congenital valvular aortic stenosis is under debate. We reviewed the results and late outcomes of all 93 patients aged 1 day to 18 years, treated with balloon valvuloplasty (BAV) as first-line therapy for congenital aortic valve stenosis in our center from January 1991 to May 2012. Mean age at procedure time was 2.4 years; 37 patients underwent BAV at age ≤30 days (neonates), 29 patients at age ≥1 month and <1 year (infants), and 27 patients were older than 1 year (children). The invasive BAV peak-to-peak aortic valve gradient (mean 59 ± 22 mmHg) was immediately reduced (mean 24 ± 12 mmHg). The observed diminution of gradient was similar for each age group. Four patients had significant post-BAV AI. Mean follow-up after BAV was 11.4 ± 7 years. The last echo peak aortic gradient was 37 ± 18 mmHg and mean gradient was 23 ± 10 mmHg, and two patients had significant AI. Actuarial survival for the whole cohort was 88.2 and 72.9 % for the neonates. All infants, except one, and all children survived. Sixty-six percent of patients were free from surgery, and 58 % were free from any reintervention, with no difference according to age. Freedom from surgery after BAV at 5, 10, and 20 years, respectively, was 82, 72, and 66 %. Our study confirms that BAV as primary treatment for congenital AS is an efficient and low-risk procedure in infants and children. In neonates, the prognosis is more severe and clearly related to "borderline LV."

Hybrid balloon valvuloplasty through the ascending aorta via median sternotomy in infants with severe congenital valvular aortic stenosis: feasibility of a new method†

To evaluate a novel hybrid balloon valvuloplasty procedure for severe congenital valvular aortic stenosis in low-weight infants, performed through the ascending aorta via median sternotomy. Eighteen infants (<90 days of age) with severe congenital aortic stenosis were included in this study. Hybrid balloon valvuloplasty procedures were performed in a hybrid operating room. Patients were followed up at 3 months, 6 months, 1 year and then annually following the procedure. The hybrid balloon valvuloplasty procedure was successful in all patients. Eight patients were successfully rescued from left ventricular systolic dysfunction by cardiac compression under direct vision. The aortic valve pressure gradient decreased from 80.3 ± 20.8 mmHg preoperatively to 16.0 ± 3.6 mmHg immediately postoperatively (P < 0.001). None of the patients developed significant aortic insufficiency. The fluoroscopy time was 6.2 ± 2.9 min. Intraoperative blood transfusions and pacing were not required. The patients were all alive and healthy at the end of the follow-up period (mean 21.3 months; range 3-41 months), and the aortic valve pressure gradient remained low (21.7 ± 5.3 mmHg). Reintervention was not required in any of the patients. Hybrid balloon valvuloplasty through the ascending aorta via median sternotomy is an effective and safe procedure for infants with severe congenital aortic stenosis.

Progress of interventional therapy of congenital valvular aortic stenosis

Congenital valvular aortic stenosis(AS), which refers to a congenital malformation of the aortic valve, is the most common causes of left ventricular outflow tract obstruction in children.In 1983, percutaneous balloon aortic valvuloplasty (PBAV) was firstly described as the treatment for congenital AS in children.Over the past 30 years advancement in technique and equipment had radically improved the safety and outcome of balloon valvuloplasty of aortic valve.Nowadays the technique is widely regarded as the therapy of first choice for children with congenital AS.However, it is essential to make decisions about treatment and define which approach has the best chance of success for any given patient before the initial intervention, especially for the neonate with critical AS.PBAV is usually effective for acutely relieving left ventricular outflow obstruction and has excellent short term results in most children with congenital AS.The mid-and long-term outcome after a successful balloon dilation of congenital AS in childhood is also good, but late restenosis and valve regurgitation eventually necessitate reintervention in the majority of children, which included aortic valve replacement.PBAV was found to have a high incidence of complications and remains one of the most challenging procedures in the interventional therapy of congenital heart disease.Operators should not only acquire the necessary manual skills, but also have the ability to make sound clinical judgment and deal with critical events.Owing to its palliative nature of balloon dilation for congenital AS, the follow-up care of patients after procedure is quite important. Key words: Valvular aortic stenosis, congenital; Balloon aortic valvuloplasty; Child

Combined severe valvular aortic and valvular pulmonary stenosis and its management – A case report and literature review

Isolated congenital valvular stenosis of either aortic or pulmonary valve is commonly seen yet the presence of both these lesions in the same patient is rare. This combination presents unusual diagnostic as well as management problems. Apart from a few case reports, there is little in the literature on the combined stenosis of both semilunar valves. We present here a case report of a three and half year old boy diagnosed as a combined congenital severe valvular aortic stenosis with valvular pulmonary stenosis. The patient underwent successful balloon dilatation of both these valves in the same sitting.

超声心动图诊断小儿先天性主动脉瓣及瓣下狭窄

目的：探讨超声心动图诊断小儿先天性主动脉瓣及瓣下狭窄的准确性。资料与方法：分析12例术前诊断先天性主动脉瓣及瓣下狭窄患者的心脏彩超图像，并与手术结果对比分析，总结其诊断要点。结果：经手术证实，12例患者中3例为主动脉瓣下狭窄，6例为主动脉瓣狭窄，3例为主动脉瓣下狭窄合并主动脉瓣狭窄。本组患者除2例术前超声诊断与术中探查不符外，其余均与手术结果相符。结论：主动脉瓣及瓣下狭窄的鉴别诊断对于外科有重要意义，超声心动图诊断小儿先天性主动脉瓣及瓣下狭窄具有较高的准确性。 Purpose: To assess the diagnostic accuracy and features of Echocardiography on congenital valvular aortic stenosis (VAS) and subvalvuar aortic stenosis (SVAS) in children. Methods: The echocardiographic characteristics of 12 patients diagnosed VAS and SVAS were analyzed and compared with results of operation results. Results: 3 of total 12 patients were diagnosed subvalvuar aortic stenosis, 6 were diagnosed valvuar aortic stenosis, 3 subvalvuar aortic stenosis cases were associated with valvuar aortic stenosis. The echocardiographic characteristics of VAS were correspondent to the results of operation findings in 12 patients except 2 patients had mismatch of preoperative diagnosis and intraoperative findings. Conclusion: The differential diagnosis of VAS and SVAS is important for surgery. There is high accuracy of echocardiography in the diagnosis of VAS and SVAS in children.

Congenital valvular aortic stenosis in young adults: Predictors for rate of progression of stenosis and aortic dilatation

Congenital aortic stenosis (AS) is the most common obstructive left-sided cardiac lesion in young adults, however little is known about the progression in adults. Therefore, we aimed to evaluate the progression rate of AS and aortic dilatation in a large multicenter retrospective cohort of asymptomatic young adults with congenital valvular AS. Data were obtained from chart abstraction. Linear mixed-effects models were used to evaluate the progression of AS and aortic dilatation over time. A joint model combining longitudinal echocardiographic and survival data was used for survival analysis. A total of 414 patients (age 29 ± 10 years, 68% male) were included. Median follow-up duration was 4.1 (2.5-5.1) years (1587 patient-years). Peak aortic velocity was 3.4 ± 0.7 m/s at baseline and did not change over time in the total patient population (-0.01 ± 0.03 m/s/year). Increased left ventricular mass was significantly associated with faster AS progression (p<0.001). Aortic dilatation was present in 34% at baseline and 48% at follow-up (p<0.001). The aortic diameter linearly increased over time with a rate of 0.7 ± 0.2mm/year. Rate of aortic dissection was 0.06% per patient-year. Seventy patients required an aortic valve intervention (4.4% per patient-year), with AS progression rate as most powerful predictor (HR 5.11 (95% CI 3.47-7.53)). In the majority of patients with mild-to-moderate congenital AS, AS severity does not progress over time. However patients with left ventricular hypertrophy are at risk for faster progression and should be monitored carefully. Although aortic dissections rarely occur, aortic dilatation is common and steadily progresses over time, warranting serial aortic imaging.