Bicuspid aortic valve is the most common CHD and commonly associated with activity restrictions that may lead to a sedentary lifestyle known to increase obesity risk. It is unknown whether obesity is associated with changes in aortic dimensions or aortic valve function in young people with bicuspid aortic valve. This study investigates whether overweight and obese children with bicuspid aortic valve have worse aortic valve function or increased aortic dimensions compared to healthy weight children with bicuspid aortic valve.

This was a single centre retrospective cohort study comprised of patients 5 to 25 years old with a diagnosis of bicuspid aortic valve between 1 January, 2019 and 31 December, 2020. Patients were classified as healthy weight or overweight/obese. Values for aortic dimensions as well as peak and mean aortic valve gradients were obtained from echocardiogram reports.

About 251 patients were analysed. Demographics were similar between groups. When indexed to height, the aortic valve annulus (1.28 ± 0.14 vs. 1.34 ± 0.15, p = 0.001) and sinotubular junctions (1.44 ± 0.21 vs. 1.49 ± 0.24, p = 0.038) were larger in the overweight/obese group, with no differences in aortic root or ascending aorta sizes. The obese/overweight group had a higher peak aortic valve gradient (23.03 ± 1.64 mmHg vs. 16.17 ± 1.55 mmHg, p = 0.003) compared to the healthy weight group.

Healthy weight patients did not have larger aortic dimensions compared to the overweight/obese patients. There was evidence of worsening aortic valve stenosis in overweight/obese patients compared to those at a healthy weight.

Prenatal diagnosis of bicuspid aortic valve is challenging. Bicuspid aortic valve is often associated with aortic dilation.

Fetuses with postnatally confirmed bicuspid aortic valve were gestational age-matched with normal controls. Complex lesions were excluded. Aortic valve and arch measurements by two blinded investigators were compared.

We identified 27 cases and 27 controls. Estimated fetal weight percentile was lower in cases than controls. Seven cases had one or more significant lesions including perimembranous ventricular septal defects (n = 2), isolated annular hypoplasia (n = 2), and/or arch hypoplasia/coarctation (n = 4). Fetuses with bicuspid aortic valves had significantly smaller median z-scores of the aortic annulus (–1.60 versus –0.53, p < 0.001) and root (–1.10 versus –0.53, p = 0.040), and larger ratios of root to annulus (1.32 versus 1.21, p < 0.001), sinotubular junction to annulus (1.07 versus 0.99, p < 0.001), ascending aorta to annulus (1.29 versus 1.18, p < 0.001), and transverse aorta to annulus (1.04 versus 0.96, p = 0.023). Leaflets were “doming” in 11 cases (41%) and 0 controls (p = 0.010), “thickened” in 10 cases (37%) and 0 controls (p = 0.002). We noted similar findings in the subgroup without significant additional cardiac defects.

The appearance of doming or thickened aortic valve leaflets on fetal echocardiogram is associated with bicuspid aortic valve. Compared to controls, fetuses with bicuspid aortic valve had smaller aortic annulus sizes (possibly related to smaller fetal size) without proportionally smaller aortic measurements, resulting in larger aortic dimension to annulus ratios. Despite inherent challenges of diagnosing bicuspid aortic valve prenatally, these findings may increase suspicion and prompt appropriate postnatal follow-up.

Coronary artery dilation associated with bicuspid/unicuspid aortic valves is described in adults with limited data in children. We aimed to describe the clinical course of children with bicuspid/unicuspid aortic valves and coronary dilation including coronary Z-score changes over time, association of coronary changes with aortic valve anatomy/function, and complications.

Institutional databases were searched for children ≤18 years with both bicuspid/unicuspid aortic valves and coronary dilation (1/2006-6/2021). Kawasaki disease and isolated supra-/subvalvar aortic stenosis were excluded. Statistics were descriptive with associations measured by Fisher’s exact test and overlapping 83.7% confidence intervals.

Of 17 children, bicuspid/unicuspid aortic valve was diagnosed at birth in 14 (82%). Median age at coronary dilation diagnosis was 6.4 years (range: 0-17.0). Aortic stenosis was present in 14 (82%) [2 (14%) moderate, 8 (57%) severe]; 10 (59%) had aortic regurgitation; 8 (47%) had aortic dilation. The right coronary was dilated in 15 (88%), left main in 6 (35%), and left anterior descending in 1 (6%) with no relationship between leaflet fusion pattern or severity of aortic regurgitation/stenosis on coronary Z-score. Follow-up evaluations were available for 11 (mean 9.3 years, range 1.1–14.8) with coronary Z-scores increasing in 9/11 (82%). Aspirin was used in 10 (59%). There were no deaths or coronary artery thrombosis.

In children with bicuspid/unicuspid aortic valves and coronary dilation, the right coronary artery was most frequently involved. Coronary dilation was observed in early childhood and frequently progressed. Antiplatelet medication use was inconsistent, but no child died nor developed thrombosis.

Published guidelines for sports restriction for children with a bicuspid aortic valve remain controversial. We sought to describe practice variation and factors influencing sports restrictions in these children.

This retrospective single-centre study included children (7–18 years old) with an isolated bicuspid aortic valve at baseline from 1 January, 2005 to 31 December, 2014. Sports restrictions, factors potentially influencing decision-making, and outcomes were collected. Descriptive statistics and multivariable mixed-effects logistic regression models were performed with providers and patients as random effects. Provider variation was estimated using intraclass correlation coefficients. Odds ratios, 95% confidence intervals, and p-values were reported from the models.

In 565 encounters (253 children; 34 providers), 41% recommended no sports restrictions, 40% recommended high-static and high-dynamic restrictions, and 19% had no documented recommendations. Based on published guidelines, 22% of children were inappropriately restricted while 30% were not appropriately restricted. The paediatric cardiology provider contributed to 37% of observed practice variation (p < 0.001). Sports restriction was associated with older age, males, greater ascending aorta z-score, and shorter follow-up interval. There were no aortic dissections or deaths and one cardiac intervention.

Physicians frequently fail to document sports restrictions for children with a bicuspid aortic valve, and documented recommendations often conflict with published guidelines. Despite this, no adverse outcomes occurred. Providers accounted for a significant proportion of the variation in sports restrictions. Further research to provide evidence-based guidelines may improve provider compliance with activity recommendations in this population.

In this study, it was aimed to examine the serum endocan levels in patients with rheumatic aortic regurgitation and to investigate whether it has a value in differentiating it from aortic regurgitation due to bicuspid aortic valve.

Blood samples were collected from patients with rheumatic aortic regurgitation (Group 1), incidentally diagnosed patients with borderline or definite rheumatic aortic regurgitation (Group 2), children with bicuspid aortic valve accompanied by aortic regurgitation (Group 3) and healthy children (Group 4) of similar age.

There were 12 children in Group 1, 13 in Group 2, 25 in Group 3, and 25 in Group 4. Groups were similar in terms of age (p = 0.291). There was no statistically significant difference between median serum endocan levels of Group 1 and Group 2 (p = 0.624), and Group 3 and Group 4 (p = 0.443). Despite that, the median serum endocan levels of Group 1 and Group 2 were significantly higher than that of both Group 3 and Group 4 (p = 0.000 for all).

Our results indicate that serum endocan level can be used to differentiate rheumatic aortic regurgitation from non-rheumatic aortic regurgitation. It is thought that the prognostic role of this marker should be confirmed in long-term, prospective studies with larger samples.

The aim of this study was to evaluate the association of bicuspid aortic valve on contemporary outcomes, including reoperation rates, after one-stage correction for interrupted aortic arch with ventricular septal defect or for aortic coarctation with hypoplastic aortic arch and ventricular septal defect.

Seventy-four consecutive patients (35 boys, 47% and 39 girls, 53%) with interrupted aortic arch (n = 41, 55%) or aortic coarctation with hypoplastic aortic arch (n = 33, 45%) with ventricular septal defect underwent early one-stage correction. Twenty (27%) patients had bicuspid aortic valve, and the remaining 54 (73%) had a tricuspid aortic valve. The median aortic valve annulus diameter was 6.0 mm (IQR: 2.0). Patients’ median age was 7 ± 29 days (range, 2–150); median weight was 3.3 ± 0.7 kg (range, 1.5–6.0), with 21 (28%) patients <3.0 kg. Selective brain perfusion through the innominate artery and selective coronary perfusion through the aortic root during aortic arch reconstruction were used in all patients. Statistical analysis was performed using SPSS version 20.0 software (SPSS Inc., Chicago, IL, USA).

The early mortality was 1.3%. One premature neonate died in the hospital with extracorporeal membrane oxygenation after aortic coarctation plus ventricular septal defect repair. There was no further mortality. Median follow-up was 5.7 years (IQR: 10.48). Reinterventions occurred in 36 (49%) patients: balloon angioplasty in 18 (24%) patients, reoperations in 4 (5%) patients, and both in 14 (19%) patients. A total of 86 follow-up procedures were required in these 36 (49%) patients: aortic valve valvulopasty (n = 6, 8%), stent implantation (n = 8, 11%), balloon dilatation (n = 39, 53%), and reoperation (n = 33, 45%). The median time to reinterventions was 9.094 years (SE 0.890). A potential risk factor for reintervention after interrupted aortic arch and aortic coarctation with ventricular septal defect repair was bicuspid aortic valve (p = 0.019, Chi2 (1) = 5.457). In addition, a multivariate Cox analysis with backward selection and significance level <0.015 was applied to all variables that showed significant effects in univariable analyzes. This regression confirmed that bicuspid aortic valve (HR = 0.381, p = .016), and interrupted aortic arch (HR = 0.412, p = 0.043) were predictors of late reintervention. All patients had no obvious neurologic impairment in routine examinations at last follow-up.

Bicuspid aortic valve was a significant risk factor for valve-related reintervention after one-stage repair for aortic arch obstruction with ventricular septal defect due to later development of stenosis associated with higher late morbidity and mortality. Particularly neonates with bicuspid aortic valve will possibly require reintervention in the future. Regular lifelong cardiac follow-up is recommended.

The purpose of this study was to evaluate the mid-term outcome of aortic valve replacement for bicuspid aortic valve and tricuspid aortic valve and the related risk factors.

From January 2014 to June 2019, 177 tricuspid aortic valve patients and 101 bicuspid aortic valve patients who underwent aortic valve replacement in our hospital were collected. 1:1 propensity score matching analysis was used to control the bias in patient selection. The perioperative and follow-up data between the two groups were compared. Independent risk factors which were associated with the continued dilatation of the ascending aorta were identified by univariate or multivariate logistic regression analysis.

After the matching procedure, 160 patients were included in the analysis (80 in each group). Baseline characteristics, intraoperative, and perioperative outcomes were similar between the two groups (all p > 0.05). Moreover, 67 patients in the tricuspid aortic valve group and 70 in the bicuspid aortic valve group completed the follow-up. The ascending aorta change, annual change rate, and the proportion of continuous dilation of ascending aorta in bicuspid aortic valve group were significantly higher than those in the tricuspid aortic valve group (p < 0.05). Multivariate logistic regression analysis showed that type 1 in bicuspid aortic valve (OR 5.173; 95% CI 1.772, 15.101; p = 0.003), aortic regurgitation (OR 3.673; 95% CI 1.133, 11.908; p = 0.030), and aortic valve stenosis with regurgitation (OR 6.489; 95% CI 1.726, 24.404; p = 0.006) were independent risk factors for the continued dilatation of the ascending aorta in all AV patients. Furthermore, the multivariate logistic regression analysis showed that type 1 in bicuspid aortic valve (OR 5.157; 95% CI 1.053, 25.272; p = 0.043), age ≥ 40 years (OR 6.956; 95% CI 1.228, 39.410; p = 0.028), and aortic regurgitation (OR 4.322; 95% CI 1.174, 15.911; p = 0.028) were independent risk factors for the continued dilatation of the ascending aorta in bicuspid aortic valve patients.

Compared with tricuspid aortic valve patients, the ascending aorta of bicuspid aortic valve patients is more likely to continue to enlarge after aortic valve replacement. Type 1 in bicuspid aortic valve, age ≥ 40 years, and aortic regurgitation were the independent risk factors.

Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.

A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.

Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).

In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

We investigated dimensions and elasticity of whole aorta in patients with bicuspid aortic valve and influence of valve phenotype.

The study group included 44 patients and 42 controls. Patients were divided into groups according to the type of valve opening as horizontal – fusion between right and left coronary cusps – and vertical – fusion between right–non-coronary cusps; according to age they were divided into younger (5–10 years) and older patients (11–16 years). Our study did not include valve phenotype with fusion between left and non-coronary cusps. Systolic–diastolic diameters of aortic annulus, sinus valsalva, sinutubular junction, arcus, and ascending–descending and abdominal aorta were measured and z-scores were obtained. Aortic strain, distensibility, and stiffness index were calculated. Flow-mediated dilatation of brachial artery was studied.

z-Scores at annulus, sinus valsalva, sinutubular junction, and ascending aorta were higher in study patients (p=0.001, p=0.0001, p=0.0001, p=0.0001, respectively). z-Scores of sinus valsalva and sinotubular junction were higher in the horizontal group than in the vertical group (p=0.006, p=0.023, respectively). z-Score was over +2 in 51% of patients with horizontal morphology and 33% of patients with vertical morphology (p=0.0001). Ascending aorta was more distensible and less stiff in the study group (11.3±5.63 versus 7.91±4.5, p=0.002; 4.76±3.60 versus 6.19±3.44 cm2.dyn−1.10−6, p=0.033, respectively). Stiffness index of ascending, arcus, and abdominal aorta were higher in the horizontal group (p=0.004, p=0.038, p=0.006, respectively). Ascending aorta was more distensible and less stiff in the younger group (p=0.007, p=0.027, respectively) but did not differ in the older group compared with the control group.

Aortic dimensions are enlarged in patients with bicuspid aortic valve starting from childhood, suggesting the presence of generalised aortopathy. Aortic elasticity is increased at young age and decreased with age.

Ectatic aortopathy and arterial abnormalities cause excess morbidity and mortality in Turner syndrome, where a state of vasculopathy seemingly extends into the major head and neck branch arteries.

We investigated the prevalence of abnormalities of the major intrathoracic arteries, their interaction with arterial dimensions, and their association with karyotype.

Magnetic resonance imaging scans determined the arterial abnormalities as well as head and neck branch artery and aortic dimensions in 99 adult women with Turner syndrome compared with 33 healthy female controls. Echocardiography determined aortic valve morphology.

In Turner syndrome, the relative risk of any congenital abnormality was 7.7 (p = 0.003) and 6.7 of ascending aortic dilation (p = 0.02). A bovine aortic arch was seen in both Turner syndrome and controls. Other abnormalities were only encountered in Turner syndrome: elongated transverse aortic arch (47%), bicuspid aortic valve (27%), aortic coarctation (13%), aberrant right subclavian artery (8%), and aortic arch hypoplasia (2%). The innominate and left common carotid arteries were enlarged in Turner syndrome (p < 0.001). Significant associations were first, bicuspid aortic valve with aortic coarctation, elongated transverse aortic arch, and ascending aortic dilation; second, aortic coarctation with elongated aortic arch and descending aortic dilation; third, 45,X with aortic coarctation, elongated transverse aortic arch and ascending aortic dilation; and fourth, branch artery dilation with bicuspid aortic valve, aortic coarctation, elongated transverse aortic arch and 45,X.

An increased risk of arterial abnormalities, aortic dilation, and enlargement of the branch arteries was found in Turner syndrome without distinct patterns of co-segregation.

Aortic dilation and dissection is reported in patients with Turner’s syndrome, both with and without cardiovascular risk factors. The bicuspid aortic valve is closely associated with dilated aortic root, although expression of aortic dilation is variable. The determinants for variable expression of aortic dilation in individuals with Turner’s syndrome, however, are unknown.

A primary mesenchymal defect is prevalent in individuals with Turner’s syndrome, suggested by having abnormalities in bone matrix, and lymphatic and peripheral blood vessels. We hypothesize that an abnormal intrinsic elastic property of aorta is a forerunner of aortic dilation in Turner’s syndrome.

Assess utility of aortic distensibility as a measure of aortic elasticity for the stratification of the risk for aortic dilation, and its relationship with age, karyotype, and hormonal therapy.

Prospective cross-sectional study.

We performed cross-sectional M-mode and Doppler echocardiography in 24 individuals with Turner’s syndrome. Dimensions of the aortic root, and its distensibility, were calculated using standard techniques. We also examined a control group of 24 age matched normotensive patients with structurally normal hearts, who had been referred for evaluation of cardiac murmurs or chest pain.

Aortic dilation was the most common cardiac anomaly, seen in 11 of 24 (46%) individuals with Turner’s syndrome, and none in control group. Of these individuals, 5 without cardiovascular risk factors had aortic dilation. In 2 young girls, aortic dimensions were normal, albeit with reduced distensibility. Aortic dilation correlated inversely with aortic distensibility, but not with age, karyotype or hormonal therapy.

Individuals with Turner’s syndrome, even without cardiovascular risk factors, do develop aortic dilation accompanied by decreased aortic distensibility, suggestive of an intrinsic abnormality in elastic property of the ascending aorta.