Abstract 3189: Prevalence of Bicuspid Aortic Valve in Turner Syndrome

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Vandana Sachdev ◽  
Lea Ann Matura ◽  
Stanislav Sidenko ◽  
Vincent Ho ◽  
Andrew Arai ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Ascending Aorta ◽  
Aortic Dilatation ◽  
Aortic Valves ◽  
Number Of Patients ◽  
Valve Structure ◽  
Asymptomatic Individuals

Women with Turner syndrome (TS) have an increased risk of congenital cardiovascular defects. Previous studies have reported a 10 –20% prevalence rate of bicuspid aortic valves and there are increasing reports of a vasculopathy that predisposes patients to aortic dilatation and dissection. This prospective study aimed to characterize aortic valve and aortic root structure in unselected asymptomatic individuals with TS. A total of 253 females aged 7– 67 years with karyotype proven TS were examined. Transthoracic echocardiography revealed a normal tricuspid aortic valve (TAV) in 162, a ‘probable TAV’ in 8 subjects, a bicuspid aortic valve (BAV) in 65 and ‘probable BAV’ in 3 subjects. The aortic valve could not be visualized by echocardiography in 15/253 or 6%. Magnetic resonance imaging (MRI) revealed valve structure in 11/12 of the probable cases (all confirmatory of the ‘probable’ diagnosis) and 12/15 of the non-visualized cases (8 BAV and 4 TAV), so only 3/253 subjects could not be visualized by either modality. The aortic valve was bicuspid in 76 of the 250 adequately imaged subjects (30%). Peak aortic valve flow was higher in BAV subjects (1.72±0.07 vs. 1.90v0.03 m/sec, P=0.0002), with one case of significant aortic stenosis. Among subjects with a BAV, aortic regurgitation was moderate or greater in ∼15%. Aortic diameters at the annulus, sinuses of Valsalva, sinotubular junction and ascending aorta were all significantly greater in the BAV group. Thirty patients in the BAV group (12%) had aortic root diameters that were outside of the 95% normal confidence limits based on Roman nomograms. Ascending aortic diameters by echo and MRI were highly correlated (r=0.77). In summary, echocardiography supplemented with MRI reveals an extraordinarily high prevalence of abnormal aortic valves in asymptomatic subjects with TS. The abnormal valve structure is associated with higher peak flows, evidence of clinically significant valvular dysfunction, and widening of the ascending aorta in a significant number of patients. All girls and women with TS should have careful echocardiographic evaluation upon diagnosis to identify the one in three asymptomatic individuals with an abnormal valve requiring monitoring for aortic root dilatation and valvular dysfunction.

scholarly journals Dilatation of the Ascending Aorta in Turner Syndrome: Influence of Bicuspid Aortic Valve Morphology and Body Composition

2021 ◽  
Vol 30 (1) ◽  
pp. e29-e36 ◽  
Author(s):  
Andrew Lin ◽  
Ashray Rajagopalan ◽  
Hanh H. Nguyen ◽  
Anthony J. White ◽  
Amanda J. Vincent ◽  
...  
Keyword(s):  
Body Composition ◽  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Ascending Aorta ◽  
Valve Morphology

scholarly journals The Role of ECG-Gated CT in Patients with Bicuspid Aortic Valve Replacement: New Perspectives in Short- and Long-Term Followup

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Massimiliano Sperandio ◽  
Chiara Arganini ◽  
Alessio Bindi ◽  
Armando Fusco ◽  
Carlo Olevano ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Aortic Valve Replacement ◽  
Valve Replacement ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Root Diameter ◽  
Ascending Aorta ◽  
Short And Long Term ◽  
The Stability

The aim of our study was to compare the results of the TTE (transthoracic echocardiography) with the results obtained by the ECG-gated 64 slices CT during the followup of patients with bicuspid aortic valve (BAV), after aortic valve replacement; in particular we evaluated the aortic root and the ascending aorta looking for a new algorithm in the followup of these patients. From January 1999 to December 2009 our attention was focused on 67 patients with isolated surgical substitution of aortic valve; after dismissal they were strictly observed. During the period between May and September 2010, these patients underwent their last evaluation, and clinical exams, ECG, TTE, and an ECG-gated-MDCT were performed. At followup TTE results showed an aortic root of 36.7±4 mm and an ascending aorta of 39.6±4.8 mm. ECG- gated CT showed an aortic root of 37.9±5.5 mm and an ascending aorta of 43.1±5.2. The comparison between preoperative and postoperative TTE shows a significant long-term dilatation of the ascending aorta while the aortic root diameter seems to be stable. ECG-gated CT confirms the stability of the aortic root diameter (38.2±5.3 mm versus 37.9±5.5  mm; <0.0001) and the increasing diameter value of the ascending aorta (40.2±3.9 mm versus 43.1±5.2 mm; P=0.0156). Due to the different findings between CT and TTE studies, ECG-gated CT should no longer be considered as a complementary exam in the followup of patients with BAV, but as a fundamental role since it is a real necessity.

Fluid Structural Interaction of a Patient Specific Congenital Bicuspid Aortic Valve

2012 ◽  
Author(s):  
V. Govindarajan ◽  
H. S. Udaykumar ◽  
S. Vigmostad ◽  
M. M. Levack ◽  
J. H. Gorman ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Aortic Aneurysms ◽  
Patient Specific ◽  
Aortic Dilatation ◽  
Structural Interaction ◽  
Aortic Pathology ◽  
Specific Geometry ◽  
Opening Phase

Congenital Bicuspid Aortic Valve (BAV) is a valvular anomaly where a patient is born with a valve with two leaflets instead of a normal tri-leaflet valve. It has also been reported that BAVs are prone to progressive calcification and also other complications such as ascending aortic dilatation, dissection and rupture [1]. The geometrical variations with the BAV may be a factor in altering the deformation and stresses on the leaflets resulting in calcification of the leaflets earlier than with normal tri-leaflet aortic valves. Altered flow patterns past BAV into the ascending aorta can also be anticipated. Analysis of flow dynamics during the opening phase, and the resultant fluid forces on the aortic root could improve our understanding of aortic aneurysms and dissections observed in patients with BAV [2]. In this study, the valvular deformation and the flow across a patient-specific BAV and root are simulated using the method of fluid structural interaction analysis. The patient-specific geometry is obtained employing 3D ultrasound images segmented as point cloud data and surfaces are constructed with commercial software GAMBIT using NURBS based connectivity. The opening phase of the valve is simulated under flow with physiological Reynolds number and with realistic material properties for the leaflets and the aortic root. Such an analysis on the dynamics of BAV with patient-specific geometry may be a useful tool in stratifying BAV patients that may be at risk in developing valvular and ascending aortic pathology.

Progressive dilation of the diameter of the aortic root in adults with a bicuspid aortic valve

2003 ◽  
Vol 13 (6) ◽  
pp. 526-531 ◽  
Author(s):  
Annie Dore ◽  
Marie-Claude Brochu ◽  
Jean-François Baril ◽  
Marie-Claude Guertin ◽  
Lise-Andrée Mercier
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Left Ventricular Outflow Tract ◽  
Normal Population ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Ascending Aorta ◽  
Rate Of Progression ◽  
Left Ventricular Outflow

Background: To determine the rate of progression of dilation of the aortic root in adults with a bicuspid aortic valve. Methods: We reviewed retrospectively the transthoracic echocardiograms of 50 adults with a bicuspid aortic valve. Each patient had had at least two examinations made 12 months apart. Measurements were taken at four levels: at the basal attachment of the leaflets of the valve within the left ventricular outflow tract, at the widest point of the sinuses of Valsalva, at the sinutubular junction, and in the ascending aorta 1 cm beyond the sinutubular junction. Results: Progressive dilation occurred at all levels, ranging from 0.3 mm/yr at the basal attachment within the left ventricular outflow tract to 1.0 mm/yr, 1 cm beyond sinutubular junction. These rates of dilation were greater than the reported rate of 0.8 mm per decade in the normal population. The rate of dilation found in the ascending aorta 1 cm beyond the sinutubular junction was significantly greater than at the other sites (p = 0.005). The 21 patients with baseline measurements greater than 34 mm had a significantly higher rate of progression (p = 0.007). Sex, age, and the degree of valvar obstruction or regurgitation did not significantly influence the rate of progression of dilation. Conclusion: There is a significantly higher rate of dilation of the aortic root in adults with a bicuspid aortic valve when compared to the normal population. Periodic evaluation of the ascending aorta is essential in these patients, even after replacement of the aortic valve. Other imaging modalities should be considered if the region beyond the sinutubular junction is not well visualized by transthoracic echocardiography.

Serial evaluation of the thoracic aorta in patients with a bicuspid aortic valve: A magnetic resonance angiography study

VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 140-144 ◽  
Author(s):  
Tutarel ◽  
Meyer ◽  
Lotz ◽  
Westhoff-Bleck
Keyword(s):  
Aortic Valve ◽  
Thoracic Aorta ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Innominate Artery ◽  
Ascending Aorta ◽  
Current Data ◽  
Descending Aorta ◽  
Valve Function ◽  
A Prospective Study

Background: Bicuspid aortic valve (BAV) is associated with an arteriopathy leading to a progressive dilatation of the aortic root. Recent studies have shown that the whole thoracic aorta is affected by this arteriopathy. Longitudinal data regarding the progression of this arteriopathy in the whole thoracic aorta has not been reported before. Patients and methods: In this retrospective study 40 patients (mean age 28.5 ± 9.1 years) had 2 MR-angiographies (mean interval 37.1 ± 15.2 months). In 23 patients the aortic valve was regurgitant, in 1 stenotic, in 4 combined aortic stenosis / regurgitation was found, while in 12 the valve function was normal. Aortic diameters were measured at 6 different, standardized anatomical points. The influence of demographic and clinical parameters was assessed. Results: A significant increase of the diameter was observed at the aortic root (35.4 ± 5.6 mm → 39.1 ± 6.5 mm, p < 0.001), the ascending aorta (37.3 ± 8.0 mm → 39.5 ± 8.5 mm, p = 0.001), proximal to the innominate artery (29.4 ± 6.1 mm → 31.6 ± 6.8 mm, p = 0.008), and the descending aorta (20.2 ± 2.4 mm → 21.6 ± 4.2 mm, p = 0.03). There was no significant increase proximal (24.0 ± 5.7 mm → 24.6 ± 5.3 mm, p = 0.44) and distal to the left subclavian artery (21.4 ± 4.6 mm → 21.9 ± 4.5 mm, p = 0.19). These observations were independent of the presence of arterial hypertension, a previous operation, gender, and functional status of the aortic valve. Conclusions: The progressive dilatation of the aortic root and ascending aorta that can be observed in patients with BAV was not found in the more distal parts of the thoracic aorta with the exception of the descending aorta in this study. If the dilatation of the descending aorta bears any clinical significance can't be answered with the current data. A prospective study should be performed to confirm these results.

Abstract P226: The Effect Of Isometric Exercise On Aortic Valve Function And Aortic Dimensions In Adolescents With Bicuspid Aortic Valves

Circulation ◽  
2020 ◽  
Vol 141 (Suppl_1) ◽  
Author(s):  
Jacob C Hartz ◽  
Laura Mansfield ◽  
David Brown ◽  
Jonathan Rhodes
Keyword(s):  
Aortic Valve ◽  
Aortic Root ◽  
Isometric Exercise ◽  
Ascending Aorta ◽  
Z Score ◽  
Aortic Valves ◽  
Data Set ◽  
Activity Restriction ◽  
Bicuspid Aortic Valves ◽  
Aortic Dimensions

Introduction: Central arterial pressure rises to much higher levels during heavy isometric exercise compared to other forms of exercise. For this reason, patients with bicuspid aortic valves (BAV) are often restricted from heavy isometric exercise. Although this approach may be theoretically appealing, no data exists regarding the efficacy of this activity restriction. Methods: Patients between the 12-19 years old with BAV were approached during a routine clinic visit. Patients were excluded if they had a diagnosed syndrome or had undergone a procedure involving the aortic valve. Patients were assumed to have been exercise restricted, regardless of aortic dimensions. Patients completed a questionnaire regarding frequency and intensity of isometric exercise during the 12-month period prior to the visit. We then compared aortic dimensions and qualitative (1-4 scale) estimates of aortic insufficiency (AI) from an echocardiogram performed during the current visit and one obtained 2-5 years previously, using paired t-tests and multivariable regression controlling for age, gender, and participation in isometric exercise. Results: In this unique data set of 37 individuals (41% female, average age 14.8 years), 6 (16%) participated in isometric exercise. There was no significant increase in the aortic root Z-score (0.004 [95 th CI -0.20, 0.21) or in the ascending aorta Z-score (0.11 [95 th CI, -0.15, 0.37], p=0.4) between the first and second visits. Further, there was no differences in the change aortic root Z-score (β=-0.39, p=0.39) and ascending aorta Z-score (β=-0.30, p-0.699) between those who participated in isometric exercise and those who did not. However, although the sample size in this preliminary group of patients was small, the increase in AI severity among those participating in isometric exercise was clinically significant and approached statistical significance (β=0.37, p=0.1). These results did not change even after controlling for age, gender, and time between echocardiograms. Conclusion: Most adolescents with BAV follow recommendations to limit isometric exercise. Time-related changes in aortic dimensions were similar among patients who refrained from isometric exercise and those who engaged in isometric exercise. AI however may have progressed more rapidly in those who participated in isometric exercise.

scholarly journals Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Elena Sticchi ◽  
Rosina De Cario ◽  
Alberto Magi ◽  
Sabrina Giglio ◽  
Aldesia Provenzano ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Rare Variants ◽  
Aortic Surgery ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Aortic Dilatation ◽  
Reduced Penetrance ◽  
Next Generation Sequencing Ngs

Background. Bicuspid aortic valve (BAV) is a common congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant pattern of inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with other clinical manifestations in syndromic conditions. Identification of a syndromic condition in a BAV patient is clinically relevant in order to personalize indication to aortic surgery. We aimed to point out how genetic diagnosis by next-generation sequencing (NGS) can improve management of a patient with complex BAV clinical picture. Methods and Results. We describe a 45-year-old Caucasian male with BAV, thoracic aortic root and ascending aorta dilatation, and connective features evocative but inconclusive for clinical diagnosis of Marfan syndrome (MFS). Targeted (91 genes) NGS was used. Proband genetic variants were investigated in first-degree relatives. Proband carried 5 rare variants in 4 genes: FBN1(p.Asn542Ser and p.Lys2460Arg), NOTCH1(p.Val1739Met), LTBP1(p.Arg1330Gln), and TGFBR3(p.Arg423Trp). The two FBN1 variants were inherited in cis by the mother, showing systemic features evocative of MFS, but with a milder phenotype than that observed in the proband. Careful clinical observation along with the presence of the FBN1 variants allowed diagnosis of MFS in the proband and in his mother. NOTCH1 variant was found in mother and brother, not exhibiting BAV, thus not definitely supporting/excluding association with BAV. Interestingly, the proband, his brother and father, all showing root dilatation, and his sister, with upper range aortic root dimension, were carriers of a TGFBR3 variant. LTBP1 might also modulate the vascular phenotype. Conclusions. Our results underline the usefulness of NGS together with family evaluation in diagnosis of patients with monogenic traits and overlapping clinical manifestations due to contribution of the same genes and/or presence of comorbidities determined by different genes.

scholarly journals Anatomical and clinical predictors of valve dysfunction and aortic dilation in bicuspid aortic valve disease

Heart ◽  
2017 ◽  
Vol 104 (7) ◽  
pp. 566-573 ◽  
Author(s):  
Arturo Evangelista ◽  
Pastora Gallego ◽  
Francisco Calvo-Iglesias ◽  
Javier Bermejo ◽  
Juan Robledo-Carmona ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Aortic Stenosis ◽  
Aortic Regurgitation ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Ascending Aorta ◽  
Clinical Predictors ◽  
Valve Dysfunction ◽  
Tertiary Hospitals ◽  
Male Sex

ObjectiveBicuspid aortic valve (BAV) is associated with early valvular dysfunction and proximal aorta dilation with high heterogeneity. This study aimed to assess the determinants of these complications.MethodsEight hundred and fifty-two consecutive adults diagnosed of BAV referred from cardiac outpatient clinics to eight echocardiographic laboratories of tertiary hospitals were prospectively recruited. Exclusion criteria were aortic coarctation, other congenital disorders or intervention. BAV morphotype, significant valve dysfunction and aorta dilation (≥2 Z-score) at sinuses and ascending aorta were established.ResultsThree BAV morphotypes were identified: right–left coronary cusp fusion (RL) in 72.9%, right–non-coronary (RN) in 24.1% and left–non-coronary (LN) in 3.0%. BAV without raphe was observed in 18.3%. Multivariate analysis showed aortic regurgitation (23%) to be related to male sex (OR: 2.80, p<0.0001) and valve prolapse (OR: 5.16, p<0.0001), and aortic stenosis (22%) to BAV-RN (OR: 2.09, p<0.001), the presence of raphe (OR: 2.75, p<0.001), age (OR: 1.03; p<0.001), dyslipidaemia (OR: 1.77, p<0.01) and smoking (OR: 1.63, p<0.05). Ascending aorta was dilated in 76% without differences among morphotypes and associated with significant valvular dysfunction. By contrast, aortic root was dilated in 34% and related to male sex and aortic regurgitation but was less frequent in aortic stenosis and BAV-RN.ConclusionsNormofunctional valves are more prevalent in BAV without raphe. Aortic stenosis is more frequent in BAV-RN and associated with some cardiovascular risk factors, whereas aortic regurgitation (AR) is associated with male sex and sigmoid prolapse. Although ascending aorta is the most commonly dilated segment, aortic root dilation is present in one-third of patients and associated with AR. Remarkably, BAV-RL increases the risk for dilation of the proximal aorta, whereas BAV-RN spares this area.

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