Bicuspid Aortic Valve Morphology Research Articles

Impact of Bicuspid Aortic Valve Morphology on Aortic Valve Disease and Aortic Dilation in Pediatric Patients.

Bicuspid aortic valve (BAV) is the most common congenital heart defect. BAV is associated with aortic stenosis and insufficiency, and aortic dilation in adult groups, but data in pediatric groups are limited. We sought to assess the impact of BAV morphology on aortic valve disease and aortic dilation in pediatric patients. We performed a retrospective review of all echocardiograms in patients with isolated BAV who were followed at our institution from July 2002 to July 2012. BAV morphology, aortic valve stenosis and/or insufficiency, and aortic dimensions were measured manually. Comparisons were made between right-left cusp fusion (RL) and right-noncoronary cusp fusion (RN) BAV morphologies. Generalized least square models were fit to analyze the impact of specific variables on aortic dilation. There were 1075 echocardiograms in 366 patients (72% male) with isolated BAV. Aortic valve insufficiency and stenosis were more common in RN (p < 0.001 for both). The median aortic sinus Z score was higher in the RL (0.47; IQR - 0.31 to 1.44) than in the RN group (0.02; - 0.83 to 0.82) (p < 0.001). There was no difference in median ascending aorta Z score between groups. Patients with the highest weights had larger aortas (p < 0.001), but the absolute difference between the highest and lowest weight groups was small (1.5mm). The impact of BAV morphology on aortic valve disease and aortic dilation in pediatric patients presages that seen in adults. Patient body weight does not make significant clinical impacts on aortic diameters, suggesting that Z scores for aortic diameters should be based on ideal body weights.

Study on the morphology of bicuspid aortic valve in adults and its complications

Study on the morphology of bicuspid aortic valve in adults and its complications

Performance of a Simplified Dichotomous Phenotypic Classification of Bicuspid Aortic Valve to Predict Type of Valvulopathy and Combined Aortopathy

A simplified classification of bicuspid aortic valve (BAV) morphology using only the orientation of fused cusps was recently proposed. The aim of this study was to test whether it is useful for showing an associationwith the type of valvulopathy or aortopathy. BAV phenotype was retrospectively classified in 681 patients (mean age, 59±12years; 424 men) who underwent aortic valve surgery. Each BAV was classified using both dichotomous (right and left coronary cusp fusion [CCF] vs mixed cusp fusion [MCF]) and conventional methods, and its association with the dominant valvulopathy (aortic stenosis [AS] vs regurgitation) and concomitant aortic surgery was analyzed. Four cardiologists individually reviewed transthoracic echocardiographic images of 100 randomly selected patients to compare the feasibility and accuracy of the two classification methods. The frequencies of BAV CCF and MCF were 53% (n=361) and 47% (n=320), respectively. AS was the predominant cause of surgery (n=546 [80%]), and concomitant aortic surgery was done in 31% (n=214). Patients with BAV MCF showed a higher frequency of AS (89% vs 73%, P<.001) and aortic surgery (38% vs 26%, P<.001) than those with BAV CCF. There were independent associations between BAV MCF and AS (odds ratio, 3.32; 95% CI, 1.99-5.54; P<.001) as well as aortic surgery (odds ratio, 1.76; 95% CI, 1.26-2.45; P=.001). The feasibility of the classification methods did not differ, but dichotomous classification revealed higher accuracy than conventional (87% [95% CI, 84.1%-90.7%] vs 70% [95% CI, 65.0%-74.3%]) for all four examiners, with higher κ coefficients representing interrater agreement (κ=0.73±0.06 to 0.83±0.06 [dichotomous method] vs 0.51±0.06 to 0.73±0.06 [conventional method]). The dichotomous classification method is useful for showing the association with the type of valvulopathy or aortopathy, with better diagnostic performance than the conventional method.

Pathogenic Mechanisms of Bicuspid Aortic Valve Aortopathy.

Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV morphology, and to the effect of rare and common genetic variation upon function of the ascending aortic media. AAD manifests in two overall and sometimes overlapping phenotypes: that of aortic root aneurysm, similar to the AAD of Marfan syndrome; and that of tubular AAD, similar to the AAD seen with tricuspid aortic valves (TAVs). These aortic phenotypes appear to be independent of BAV phenotype, have different embryologic origins and have unique etiologic factors, notably, regarding the role of hemodynamic changes inherent to the BAV phenotype. Further, in contrast to Marfan syndrome, the AAD seen with BAV is infrequently present as a strongly inherited syndromic phenotype; rather, it appears to be a less-penetrant, milder phenotype. Both reduced levels of normally functioning transcriptional proteins and structurally abnormal proteins have been observed in aneurysmal aortic media. We provide evidence that aortic root AAD has a stronger genetic etiology, sometimes related to identified common non-coding fibrillin-1 (FBN1) variants and other aortic wall protein variants in patients with BAV. In patients with BAV having tubular AAD, we propose a stronger hemodynamic influence, but with pathology still based on a functional deficit of the aortic media, of genetic or epigenetic etiology. Although it is an attractive hypothesis to ascribe common mechanisms to BAV and AAD, thus far the genetic etiologies of AAD have not been associated to the genetic etiologies of BAV, notably, not including BAV variants in NOTCH1 and GATA4.

Comparison of aortic valve dysfunction and ascending aorta dimension between patients with different bicuspid aortic valve morphology

Objective: To compare the characteristics of aortic valve dysfunction and ascending aorta dimension in patients with different bicuspid aortic valve (BAV) morphology. Methods: A total of 197 patients who underwent aortic valve replacement between April 2014 and March 2015 and were diagnosed with BAV by pathology were included, and their clinical data were retrospectively analyzed. Patients were divided into raphe(+) group(109 cases) and raphe(-) group(88 cases) according to the presence or absence of raphe, and L-R group(fusion of left and right cusp, 125 cases) and L/R-N group(fusion of left or right and noncoronary cusp, 72 cases) according to fusion type of the cusps. The characteristics of aortic valve dysfunction and ascending aorta dimension in patients with different BAV morphology were compared. Results: (1) Aortic stenosis incidence was lower in raphe(+) group than in raphe(-) group(22.9%(25/109) vs. 69.3%(61/88), P<0.001). Aortic regurgitation incidence was higher in raphe(+) group than in raphe(-) group (61.5%(67/109) vs. 22.7%(20/88), P<0.001). Incidence of type 1 of aortic root dilation was higher in raphe(+) group than in raphe(-) group (23.9%(26/109)vs.10.2%(9/88), P=0.024). (2) Aortic stenosis incidence was lower in L-R group than in L/R-N group(29.6%(37/125) vs. 68.1%(49/72), P<0.001). Aortic regurgitation incidence was higher in L-R group than in L/R-N group (59.2%(74/125) vs. 18.1%(13/72), P<0.001). Incidence of type 3 of aortic root dilation was lower in L-R group than in L/R-N group(10.4%(13/125) vs. 37.5%(27/72), P=0.006). (3) Aortic stenosis incidence was lower in L-R patients than in L/R-N patients(15.1%(13/86)vs. 52.2%(12/23), P=0.001), and aortic regurgitation incidence was higher in L-R patients than in L/R-N patients in raphe(+) group(73.3%(63/86)vs. 17.4%(4/23), P<0.001). Conclusion: There is significant difference in the type of valvular dysfunction and ascending aorta dilatation in patients with different morphological characteristics of BAV.

Aortic Diameter Growth in Children With a Bicuspid Aortic Valve

Knowledge of aortic growth in patients with bicuspid aortic valve (BAV) is essential to identify patients at risk for dissection, but data on children remain unclear. We retrospectively evaluated the aortic diameters of all pediatric BAV patients, identified through an echocardiographic database (2005 to 2013). Medical records were reviewed and aortic diameters re-measured on echocardiographic images at diagnosis and if available on variable mid- and endpoints follow-up. Dilatation (z-score >2) was based on 2 different z-score equation methods (Gautier/Campens). In 234 of the total 250 BAV patients, aortic diameters were analyzed; median age was 6.1 years (interquartile range 1.7 to 10), of which 63% were male. Aortic coarctation was present in 81 (36%) patients, 23% had a ventricular septal defect. BAV morphology according to Sievers was as follows: type 0 in 128 patients (55%), type 1 in 96 (41%), and type 2 in 10 (4%). Ascending aortic (AA) dilatation was present in 24% (Gautier) and 36% (Campens) at inclusion. Median follow-up was 4.7years. The AA was the only location where mean z-scores progressed significantly with age: 0.06 (Gautier) and 0.09 (Campens) units per year between ages 5 and 15years. Associations for higher AA z-scores at older age were an initial z-score >2 (p <0.001) and aortic valve stenosis (p <0.05). Neither dissection nor preventive aortic surgery occurred. In conclusion, only the AA seems at risk for complication, although no aortic complications occurred in this pediatric BAV cohort. BAV morphology seems associated with larger AA z-scores and valvular dysfunction.

Factors Determining Aortic Valve Dysfunction in Korean Subjects With a Bicuspid Aortic Valve

Bicuspid aortic valve (BAV) disease has a male predominance of approximately 3:1 and shows diverse presentations about aortic valve dysfunction. This study aimed to find independent determinants for significant aortic stenosis (AS) or significant aortic regurgitation (AR) in adults with BAV. We retrospectively investigated the medical records of 1,073 subjects (773 men, mean age 55 ± 14years) who were first diagnosed with BAV disease by transthoracic echocardiography. We excluded 52 subjects with both significant AS and significant AR. Of the remaining 1,021 subjects, 418 (41%) presented with significant AS, 249 (24%) showed significant AR, and the rest of the subjects were grouped into a normal functioning BAV (n= 354, 35%). BAV morphology was classified into the following 4 types according to position and pattern of raphe and cusps: (1) fusion of the right and left coronary cusps (type 1), (2) fusion of the right and noncoronary cusps (type 2), (3) fusion of the left and noncoronary (type 3), and (4) no raphe (type 0). Patients with significant AS were older, more likely to be women than men, and had a higher prevalence of type 0 BAV. Patients with significant AR were younger and were more likely to be men. In multivariate logistic regression analysis, women, older age, and type 0 or type 3 BAV were associated with significant AS. In contrast, men, hypertension, and chronic kidney disease were correlated with significant AR. Significant valve dysfunction in adults with first diagnosed BAV was closely associated with age, gender, and BAV morphology.

Morphology of Bicuspid Aortic Valve in Adult Human Cadaver: In Correlation with Clinical Relevance

Morphology of Bicuspid Aortic Valve in Adult Human Cadaver: In Correlation with Clinical Relevance

Incidence, morphology, and progression of bicuspid aortic valve in pediatric and young adult subjects with coexisting congenital heart defects.

Bicuspid aortic valve (BAV) occurs both as an isolated cardiac lesion and in association with congenital heart defects (CHD). Their aim was to identify the incidence and morphology of BAV in patients with coexisting CHD and compare their disease progression to patients with isolated BAV. The Mayo Clinic echocardiography database was retrospectively analyzed to identify pediatric and young adult patients (≤22 years) who were diagnosed with BAV from 1990 to 2015. The morphology of BAV was determined from the echocardiographic studies before any intervention. Overall, 1010 patients with BAV were identified, 619 (61%) with isolated BAV and 391 (39%) with BAV and coexisting CHD. The incidence of BAV was highest in patients with coarctation of the aorta (36%) and interrupted aortic arch (36%). In comparison to patients with isolated BAV, patients with BAV and left-sided obstructive lesions more frequently had right-left cusp fusion (P = .0001). BAV in patients with right-sided obstructive lesions was rare, but they more frequently had right-noncoronary or left-noncoronary cusp fusion (P = .01). No significant progression of aortic stenosis or regurgitation was observed in patients with BAV and coexisting CHD; however in patients with isolated BAV the severity of aortic regurgitation increased with age. In patients with isolated BAV, the ascending aorta diameter (z-score) increased with age, peaked around 8-9 years of age, and was larger in comparison to patients with BAV and coexisting CHD. The sinus of Valsalva diameter (z-score) in patients with BAV and ventricular septal defect was larger than isolated BAV patients after 18 years (P < .04). The morphology of BAV, the pattern and progression of aortic dilatation, and the severity of aortic valve disease vary in pediatric and young adult patients with BAV and coexisting CHD. However, there was no significant BAV disease progression when associated with these CHD.

A Bicuspid Aortic Valve Imaging Classification for the TAVR Era

ObjectivesThis study sought to evaluate transcatheter aortic valve replacement (TAVR) in bicuspid aortic valve (BAV) aortic stenosis (AS), with a particular emphasis on TAVR-directed bicuspid aortic valve imaging (BAVi) of morphological classification. BackgroundTAVR has been used to treat BAV-AS but with heterogeneous outcomes and uncertainty regarding the relevance of morphology. MethodsIn 14 centers in the United States, Canada, Europe, and Asia, 130 BAV-AS patients underwent TAVR. Baseline cardiac computed tomography (CT) was analyzed by a dedicated Corelab. Outcomes were assessed in line with Valve Academic Research Consortium criteria. ResultsBicommissural BAV (vs. tricommissural) accounted for 68.9% of those treated in North America, 88.9% in Europe, and 95.5% in Asia (p = 0.003). For bicommissural bicuspids, non-raphe type (vs. raphe type) BAV accounted for 11.9% of those treated in North America, 9.4% in Europe, and 61.9% in Asia (p < 0.001). Overall rates of 30-day mortality (3.8%) and cerebrovascular events (3.2%) were favorable and similar among anatomical subsets. The rate of new permanent pacemaker insertion was high (26.2%) and similar between balloon-expandable (BE) and self-expanding (SE) designs (BE: 25.5% vs. SE: 26.9%; p = 0.83); there was a trend to greater permanent pacemaker insertion in BE TAVR in the presence of coronary cusp fusion BAV morphology. Paravalvular aortic regurgitation (PAR) ≥ moderate was 18.1% overall but lower at 11.5% in those with pre-procedural CT. In the absence of pre-procedural CT, there was an excess of PAR in BE TAVR that was not the case in those with a pre-procedural CT; SE TAVR required more post-dilation. Predictors of PAR included intercommissural distance for bicommissural bicuspids (odd ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02 to 1.84; p = 0.036) and lack of a baseline CT for annular measurement (OR: 3.03; 95% CI: 1.20 to 7.69; p = 0.018). ConclusionsIn this multicenter study, TAVR achieved favorable outcomes in patients with pre-procedural CT, with the exception of high permanent pacemaker rates for all devices and shapes.

Coronary anatomy as related to bicuspid aortic valve morphology

ObjectiveVariable coronary anatomy has been described in patients with bicuspid aortic valves (BAVs). This was never specified to BAV morphology, and prognostic relevance of coronary vessel dominance in this patient...

Abstract 18044: Predictors of Bicuspid Aortic Valve Associated Aortopathy in Pediatric Patients

Bicuspid aortic valve (BAV) is the most common congenital heart disease and is commonly associated with significant ascending aorta dilation. Valve morphology and function have been proposed as potential risk factors; however evaluating their role is difficult, as BAV morphology and valve function are inherently related. Our objective was to determine whether BAV morphology and function are independently associated with ascending aorta dilation in pediatric patients. We performed a multicenter, retrospective, cross-sectional study of pediatric patients with BAV that were followed after 2003. The last patient echocardiogram prior to valve intervention was analyzed for BAV morphology, presence and severity of aortic stenosis (AS) and insufficiency (AI), and aortic root and ascending aorta dimensions. The relationship of potential risk factors to ascending aorta dimensions at different ages was determined using linear regression. Data was obtained from 1725 patients (68% male). The most common BAV morphology was right-left (R-L) coronary cusp fusion (65%) followed by right-non (R-N) fusion (34%) and left-non fusion (1%). Fourteen percent of patients had at least moderate AS and 7% had at least moderate AI. R-L fusion was associated with coarctation (55%), while R-N fusion was less associated with coarctation (19%) and more associated with valve dysfunction (24% and 12% with at least moderate AS and AI). Twenty-seven percent of patients had significant ascending aorta dilation (Z score &gt;3). AS and AI were associated with more significant ascending aorta dilation and a faster Z-score progression over time. R-N fusion was associated with ascending aorta dilation; however, when valves with AS and AI were excluded, there were no differences related to morphology. In patients with no AS or AI, 15% had significant ascending aorta dilation. In this large pediatric cohort of patients with BAV, we show that valve morphology is not independently associated with ascending aorta dilation. Valve dysfunction (both AS and AI) is associated with more significant dilation; however, even in valves with normal function, there is significant ascending aorta dilation. We suggest that there is an inherent arterial abnormality, possibly modified by aortic flow patterns.

Bicuspid aortic valve morphology and its association with aortic diameter: an echocardiographic study.

Bicuspid aortic valve (BAV) is strongly associated with aortopathy. Previous studies have suggested that various types of bicuspid aortic valve morphology may differently affect the aortic dilatation. To evaluate the impact of BAV cusp fusion morphology (type I - right-left coronary cusp fusion; type II - right-noncoronary cusp fusion) on the diameters of the aorta. BAV morphology was evaluated retrospectively in a group of 67 consecutive patients with BAV. The control group comprised 1000 randomly selected patients with normal tricuspid aortic valve. Aortic dimensions and other echocardiographic parameters were obtained from the echocardiography database of our department. The diameters of aorta in both BAV sub-types were evaluated at the level of: annulus, the sinus of Valsalva, the sinotubular junction, and the ascending aorta and at the level of the ascending aorta in the control group. Patients with BAV were mainly male (78%), with a mean age of 55.3 ± 16.7 years. The dominant morphology of BAV in the study group was type I (n = 46; 69%). It was associated with increased aortic dimension in comparison to type II BAVs at the level of the sinuses of Valsalva (38.4 ± 5.2 vs. 34.0 ± 4.6 mm, p = 0.002), the sinotubular junction (33.1 ± 5.8 vs. 29.6 ± 5.0 mm, p = 0.035), and the ascending aorta (41.6 ± 7.1 vs. 36.6 ± 6.1 mm, p = 0.006). Indexed aortic diameter was also increased in type I BAV at the level of sinuses of Valsalva (19.6 ± 2.7 vs. 18.1 ± 1.6 mm/m2, p = 0.008) and the ascending aorta (21.3 ± 3.4 vs. 19.3 ± 3.4 mm/m2, p = 0.048). The dimensions of the ascending aorta exceeding the upper normal range limit based on control-group measurements (44.3 mm) were observed more frequently in type I than in type II (33% vs. 10%, p = 0.044). Aortic regurgitation (moderate or severe) occurred in similar percentages of both BAV subtypes (type I: 37% vs. type II: 33%, p = 0.774). There were also no significant differences in aortic valve area (2.2 ± 1.1 vs. 2.0 ± 1.4 cm2, p = 0.163), indexed aortic valve area (1.1 ± 0.6 vs. 1.0 ± 0.6, p = 0.337), peak transvalvular gradient (35.3 ± 20.5 vs. 39.1 ± 28.9 mm Hg, p = 0.862), and mean gradient (18.6 ± 12.3 vs. 22.7 ± 18.2 mm Hg, p = 0.571) and left ventricular ejection fraction (51.8 ± 11.6 vs. 51.8 ± 12.2%, p = 0.978) between type I and type II BAV groups. Type I BAV cusp fusion morphology is more commonly associated with dilatation of the aorta than type II, especially at the level of the sinus of Valsalva and the ascending aorta.

Aortic valve/root procedures in patients with an anomalous left circumflex coronary artery and a bicuspid aortic valve: anatomical and technical implications.

An anomalous origin of the left circumflex coronary artery that arises as a side branch of the right coronary artery from the right coronary sinus of Valsalva encircling the aortic annulus is usually an incidental finding. However, in patients undergoing aortic valve procedures, its existence can significantly complicate the surgical treatment. We report our operative strategy in patients with an anomalous left circumflex coronary artery, a bicuspid aortic valve morphology and different aortic valve pathologies.

Characterization of the relationship between bicuspid aortic valve morphology and hemodynamics

Background Bicuspid aortic valve (BAV) is the most common congenital heart defect affecting 1-2% of the US population. BAV has been associated with progressive secondary pathologies, such as aortic valve calcification, stenosis, regurgitation, aortic root dilatation, and/or aortic aneurysm. However, not all patients exhibit symptoms or develop aortopathy and the exact link between BAV morphology and disease progression is not fully understood. Magnetic resonance imaging (MRI) has been previously used to characterize BAV hemodynamics. However, studies have been hampered by the need for lengthy manual data analysis thereby limiting reproducibility and/or integration into a clinically feasible workflow.

Valsalva sinus asymmetry in bicuspid aortic valve: diameter through fused cusp is smaller than diameter through nonfused cusp but maximal diameter is the same whatever the phenotype when estimated by CMR

Background Previous studies establish a link between bicuspid aortic valve (BAV) morphology and aortic shape. Anteroposterior (AP) leaflets with right left (RL) fusion was found more often associated with dilatation of VS than left-right (LR) leaflets with either fusion between right and noncoronary(R-NC) cusps or between left and noncoronary cusps(L-NC). However, most of these studies were performed by transthoracic echocardiography with parasternal long axis view measurements without taking into account a possible valsalva sinus (VS) asymmetry. The aim of our study was to assess aortic valsalva sinus size and morphology by CMR in a large cohort of BAV subjects.

A novel comprehensive classification system for bicuspid aortic valve morphology at cardiac MRI and initial results in 368 patients

Background Significant morphological heterogeneity is known to exist among subjects with bicuspid aortic valves (BAV). Accompanying this is the recognition of varied penetrance of phenotypic aortopathy. A genetic contribution possibly influenced by blood flow patterns in the aortic root has been postulated. Current BAV classification schemes do not comprehensively characterize the heterogeneous expression of BAV morphology (Fig 1a). The purpose of this study is to describe a novel comprehensive classification system for BAV morphology in a consecutive cohort of patients referred for evaluation of the thoracic aortic size.

Characteristics of aortic valve dysfunction and ascending aorta dimensions according to bicuspid aortic valve morphology.

To characterize aortic valve dysfunction and ascending aorta dimensions according to bicuspid aortic valve (BAV) morphology using computed tomography (CT) and surgical findings. We retrospectively enrolled 209 patients with BAVs who underwent transthoracic echocardiography (TTE) and CT. BAVs were classified as anterior-posterior (BAV-AP) or lateral (BAV-LA) orientation of the cusps and divided according to the presence (raphe+) or absence (raphe-) of a raphe. Ascending aortic dimensions were measured by CT at four levels. BAV-AP was present in 129 patients (61.7%) and raphe+ in 120 (57.4%). Sixty-nine patients (33.0%) had aortic regurgitation (AR), 70 (33.5%) had aortic stenosis (AS), and 58 (27.8%) had combined AS and AR. AR was more common in patients with BAV-AP and raphe+; AS was more common with BAV-LA and raphe-.Annulus/body surface area and tubular portion/body surface area diameters in patients with BAV-AP (17.1 ± 2.3 mm/m(2) and 24.2 ± 5.3 mm/m(2), respectively) and raphe+ (17.3 ± 2.2 mm/m(2) and 24.2 ± 5.5 mm/m(2), respectively) were significantly different from those with BAV-LA (15.8 ± 1.9 mm/m(2) and 26.4 ± 5.5 mm/m(2), respectively) and raphe- (15.7 ± 1.9 mm/m(2) and 26.2 ± 5.4 mm/m(2), respectively). The morphological characteristics of BAV might be associated with the type of valvular dysfunction, and degree and location of an ascending aorta dilatation. • The BAV-AP type had more frequent aortic regurgitation, raphe, and a larger aortic annulus. • BAV without raphe had more frequent aortic stenosis and mid-ascending aorta dilatation. • CT allows assessment of the morphological characteristics of BAV and associated aortopathy.

MRI-based Protocol to Characterize the Relationship Between Bicuspid Aortic Valve Morphology and Hemodynamics

Bicuspid aortic valve (BAV) is the most common congenital heart defect and can lead to severe complications. Many studies have been conducted to evaluate the potential of geometric and hemodynamic biomarkers to predict BAV-related aortopathy. This work proposes a novel semi-automatic protocol to characterize geometry and hemodynamics of aorta and aortic valve based on 2D cine and 4D flow MRI data. The protocol was applied to 12 BAV and 12 control subjects. Statistical differences between the groups were identified and linear regression models were investigated to elucidate the potential of this protocol to investigate the risk of disease progression. Statistical differences between the groups were found for orifice eccentricity, aorta diameter, velocity, jet angle and flow displacement. Key findings of the regression analysis include the association in the proximal ascending aorta between aorta diameter and mean velocity (negative), jet angle (positive) and flow displacement (positive), in the combined cohort. Positive association between flow displacement in the proximal aorta and orifice jet angle in TAV subjects was found. This study represents a pilot application of a protocol for standardized assessment of aortic geometry and hemodynamics associated with BAV disease. Its limited need for user input is advantageous for large cohort studies.

Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study

Introduction: Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a fetal TS cohort with adverse outcome early in development. Material and Methods: We studied post-mortem heart specimens of 36 TS fetuses and 1 TS newborn. Results: BAV was present in 28 (76%) hearts. BAVs showed fusion of the right and left coronary leaflet (type 1 BAV) in 61%, and fusion of the right coronary and non-coronary leaflet (type 2 BAV) in 39%. There were no significant differences in occurrence of additional cardiovascular abnormalities between type 1 and type 2 BAV. However, all type 2 BAV hearts showed ascending aorta hypoplasia and tubular hypoplasia of the B segment, as opposed to only 55 and 64% of type 1 BAV hearts, respectively. Discussion: The proportion of type 2 BAV seems higher in TS fetuses than in adults. Fetal type 2 BAV hearts all had severe aortic pathology, possibly contributing to a worse prognosis of type 2 than type 1 BAV in TS.