The bicuspid aortic valve (BAV) is the most common congenital cardiac abnormality. Though most often isolated, BAV may be associated with other cardiovascular malformations. BAV-related aortopathy is the most common, sharing genetic alterations and phenotypic heterogeneity characteristics. Sometimes silent for a lifetime, BAV may manifest as aortic valve dysfunction, aortic aneurysm, or more emergent situations, such as endocarditis or aortic dissection. Its embryological origin and the characterization of the genes involved, as well as the histopathological and hemodynamic aspects of its natural history, are becoming increasingly clear. In addition, emerging evidence of rhythm disorders associated with BAV has been identified. A new international nomenclature and classification has been introduced to interpret all the advances made in recent years for the comprehension of this condition. In the guidelines, more attention has been paid to the diagnosis of BAV and related aortopathy, together with surveillance, and family screening. Surgical treatment remains the gold standard, especially in young low-risk patients, and valve repair techniques have been shown to be effective and durable. Finally, the new era of transcatheter techniques is also being applied to dysfunctional BAV, allowing the treatment of patients at high surgical risk, with increasingly promising results, and the possibility of expanding indications through the introduction of more advanced devices. This review aims to comprehensively describe the BAV conundrum, focusing on anatomy, pathophysiology, genetics, diagnosis of BAV-related disorders, and the different treatment options available in the transcatheter era.

UNASSIGNED: Clinical outcomes of bicuspid aortic valve (BAV) patients with ascending aortic diameters ≥50 mm who are under surveillance are poorly defined.
UNASSIGNED: The purpose of this study was to assess clinical outcomes in BAV patients with ascending aorta ≥50 mm.
UNASSIGNED: Multicenter retrospective cohort study of BAV adults with ascending aorta diameters ≥50 mm by transthoracic echocardiography (TTE). Patients were categorized into 50 to 54 mm and ≥55 mm groups. Clinical outcomes were aortic dissection (AoD), aorta surgery, surgical mortality, and all-cause death.
UNASSIGNED: Of 875 consecutive BAV patients (age 60 ± 13 years, 86% men, aortic diameter 51 mm [interquartile range (IQR): 50-53 mm]), 328 (37%) underwent early surgery ≤3 months from index TTE. Of the remaining 547 patients under surveillance, 496 had diameters 50 to 54 mm and 51 had diameters ≥55 mm and were collectively followed for 7.51 (IQR: 3.98-12.20) years. Of 496 patients with diameters 50 to 54 mm under surveillance, 266 (54%) underwent surgery 2.0 (IQR: 0.77-4.16) years from index TTE. AoD occurred in 9/496 (1.8%) patients for an incidence of 0.4 cases per 100 person-years, surgical mortality was 5/266 (1.9%); and ≥moderate aortic stenosis (but not aorta size) was associated with all-cause death, hazard ratio: 2.05 (95% CI: 1.32-3.20), P = 0.001. Conversely, in 547 total patients under surveillance (including 50-54 mm and ≥55 mm), both aorta size and ≥moderate aortic stenosis were associated with all-cause death (both P ≤ 0.027). AoD rate in patients ≥55 mm under surveillance was 5.9%.
UNASSIGNED: In BAV patients with ascending aorta 50 to 54 mm under surveillance, AoD incidence is low and the overall rates of AoD and surgical mortality are similar, suggesting clinical equivalence between surgical and surveillance strategies. Conversely, patients with aortas ≥55 mm should undergo surgery. Aortic stenosis is associated with all-cause death in these patients.

UNASSIGNED: The aim of the present study was to assess the differences between BAV and TAV patients with chronic moderate to severe or severe AS regarding presentation, incidence of TAVR, survival, ascending aorta diameter and dilatation rate before and after TAVR.
UNASSIGNED: The study included 667 consecutive patients with chronic moderate to severe or severe AS from January 2012 and December 2022. Outcomes included all-cause mortality, incidence of TAVR, and ascending aorta diameter and dilatation rate.
UNASSIGNED: There were 185 BAV-AS and 482 TAV-AS patients, and BAV-AS patients were younger (67 vs 78 years, P = 0.027). Total follow-up was 4.5 years (IQR: 2.7-8.9 years), 290 patients underwent TAVR, and 165 patients died. The 8-year TAVR incidence was higher in BAV-AS (55% ± 4%) vs TAV-AS (41% ± 5%; P = 0.02). The 8-year survival was higher in BAV-AS (85% ± 6%) vs TAV-AS (71% ± 6%; P < 0.0001) and became insignificant after age adjustment (P = 0.33). The dilatation rate of ascending aorta was significantly faster in BAV-AS patients compared with TAV-AS patients before TAVR. However, the ascending aorta dilatation rate for BAV-AS and TAV-AS patients was not significantly different after TAVR.
UNASSIGNED: Compared with TAV-AS, BAV-AS patients were younger and underwent TAVR more frequently, resulting in a considerable survival advantage. After TAVR, ascending aorta dilatation rates were similar in BAV-AS and TAV-AS patients, suggesting an important role of hemodynamics on ascending aorta dilatation in BAV-AS.

Aortic root dilatation has been proposed as hypertension-mediated organ damage (HMOD). Nevertheless, the role of the aortic root dilatation as a possible additional HMOD is still unclear since studies conducted so far are quite heterogeneous regarding the type of population analyzed, the aortic tract considered, and the type of outcomes accounted for. The aim of the present study is to assess whether the presence of aortic dilatation is associated with strong cardiovascular (CV) events (MACE: heart failure, CV death, stroke, acute coronary syndrome, myocardial revascularization) in a population of patients affected by essential hypertension. Four hundred forty-five hypertensive patients from six Italian hospitals were recruited as part of ARGO-SIIA study1. For all centers, follow-up was obtained by re-contacting all patients by telephone and through the hospital\'s computer system. Aortic dilatation (AAD) was defined through absolute sex-specific thresholds as in previous studies (41 mm for males, 36 mm for females). Median follow-up was 60 months. AAD was found to be associated with the occurrence of MACE (HR = 4.07 [1.81-9.17], p < 0.001). This result was confirmed after correction for main demographic characteristics such as age, sex and BSA (HR = 2.91 [1.18-7.17], p = 0.020). At penalized Cox regression, age, left atrial dilatation, left ventricular hypertrophy and AAD were identified as best predictor of MACEs and AAD resulted a significant predictor of MACEs even after correction for these confounders (HR = 2.43 [1.02-5.78], p = 0.045). The presence of AAD was found to be associated with an increased risk of MACE independently of for major confounders, including established HMODs. AAD ascending aorta dilatation, LAe left atrial enlargement, LVH left ventricular hypertrophy, MACEs major adverse cardiovascular events, SIIA Società Italiana dell\'Ipertensione Arteriosa (Italian Society for Arterial Hypertension).

UNASSIGNED: Transcatheter aortic valve implantation (TAVI) has been established as an effective and safe treatment for patients with severe aortic stenosis (AS). It is reported that vascular complications, especially aortic dissection, are rare. However, aortic dissection may be a serious consequence if it occurs. We experienced a case of delayed onset of ascending aortic dissection after TAVI.
UNASSIGNED: An 82-year-old woman presented with dyspnoea and general fatigue. Echocardiography revealed severe AS and she was diagnosed with heart failure associated with AS. She had difficulty controlling heart failure and required the intervention of the aortic valve. We evaluated the aortic valve and access routes with contrast-enhanced computed tomography (CT), which showed marked dilatation of the ascending aorta. Transcatheter aortic valve implantation was performed and the procedure was completed without major complications. Transoesophageal echocardiography during the procedure did not detect any obvious arterial injury. However, on the second postoperative day, the patient suddenly became unconscious and a CT indicated an ascending aortic dissection. Unfortunately, she passed away. An autopsy revealed the fragility of the ascending aorta.
UNASSIGNED: Patients with AS and aortic root dilatation may develop delayed onset of ascending aortic dissection after TAVI.

UNASSIGNED: The mechanism underlying aortic dilatation is still unknown. Vascular dilatation is thought to be the result of progressive aortic media degeneration caused by defective vascular matrix hemostasis, including TGF-β1 dysregulation. The goal of this study is to draw attention to the potential utility of TGF-β1 as a diagnostic marker in non-syndromic patients with aortic dilatation.
UNASSIGNED: TGF-β1 levels in plasma were measured in 50 patients who had undergone surgery and had a tricuspid or bicuspid aortic valve as well as a normal or dilated ascending aorta. A pathologist also examined thirty resected aorta samples. To specify the reference range of TGF-β1, a control group of 40 volunteers was enrolled in this study.
UNASSIGNED: We discovered a significant difference in TGF-β1 levels between patients with aortic dilatation and the control group (32.5 vs. 63.92; P < 0.001), as well as between patients with non-dilated aorta but with aortic valve disease, and the control group (27.68 vs. 63.92; P < 0.001). There was no difference between the dilated ascending aorta group and the non-dilated ascending aorta group. We found a poor correlation between TGF-β1 levels and ascending aorta diameter as well as the grade of ascending aorta histopathological abnormalities.
UNASSIGNED: TGF-β1 concentration does not meet the criteria to be a specific marker of aortic dilatation, but it is sensitive to aortic valvulopathy-aortopathy. A larger patient cohort study is needed to confirm these findings.

Personalized External Aortic Root Support (PEARS) is an evolving method of treatment for patients with a dilated aortic root or ascending aorta. This treatment is being adopted in an increasing number of centres. For the sake of the safety of the procedure a standardized surgical technique is necessary. The authors describe a surgical technique of implantation that is derived from their extensive experience.

The relationship between exposure to famine in early life and the risk of ascending aorta dilatation (AAD) in adulthood is still unclear; therefore, we aimed to examine the association in the Chinese population. We investigated the data of 2598 adults who were born between 1952 and 1964 in Guangdong, China. All enrolled subjects were categorised into five groups: not exposed to famine, exposed during fetal period, and exposed during early, mid or late childhood. AAD was assessed by cardiac ultrasound. Multivariate logistic regression and interaction tests were performed to estimate the OR and CI on the association between famine exposure and AAD. There were 2598 (943 male, mean age 58·3 ± 3·68 years) participants were enrolled, and 270 (10·4 %) subjects with AAD. We found that famine exposure (OR = 2·266, 95 % CI 1·477, 3·477, P = 0·013) was associated with elevated AAD after adjusting for multiple confounders. In addition, compared with the non-exposed group, the adjusted OR for famine exposure during fetal period, early, mid or late childhood were 1·374 (95 % CI 0·794, 2·364, P = 0·251), 1·976 (95 % CI 1·243, 3·181, P = 0·004), 1·929 (95 % CI 1·237, 3·058, P = 0·004) and 2·227 (95 % CI 1·433, 3·524, P < 0·001), respectively. Subgroup analysis showed that the effect of famine exposure on the association with AAD was more pronounced in female, current smokers, people with BMI ≥ 24 kg/m2 and hypertensive patients. We observed that exposure to famine during early life was linked to AAD in adulthood.

Criteria to define aortic dilatation in bicuspid aortic valve (BAV) patients are different for children and adults. The objective of this study was to find the best reference tool to define dilation of the aortic root (AR) and the ascending aorta (AA) in BAV adolescents with an adult body surface area (BSA).
Patients recruited were ≥10-years-old with a BSA ≥1.5 m2. Three measurements of the AR and AA were compared: z-score, the BSA-indexed value (BSA-IV) and the absolute value (AV), with thresholds in +2/+3, 21 mm/m2 and 40 mm, respectively.
231 subjects were collected from the Pediatric REVAB database, with a median age and BSA of 14-year-old and 1.67 m2. Significant differences were reported in the AA: 109 (47%) patients had a z-score ≥2 and 67 (29%) a Z ≥ 3, but only 9 (3%) a BSA-IV ≥21 mm/m2 (p < 0.01 and p < 0.01) and 2 (0.9%) an AV ≥40 mm (p = 0.22 and p = 0.08).
Our results indicate that in the AA there are a significant number of patients in which it would be recommendable changing to BSA-IV when children are older than 10-year-old and BSA ≥1.5 m2. Regarding the AR, criteria for dilatation seems not to be influenced by the reference chosen.

Bicuspid aortic valve (BAV) is the most common congenital heart disease. Since heritability is suspected, actual guidelines recommend to perform an echocardiographic assessment for first-degree relatives (FDR) of patient with BAV. This study aimed to assess the effectiveness and the feasibility of the current guidelines for the screening of FDR of patient with BAV in a pediatric cardiology daily practice. Consecutive patients with BAV and their FDR were prospectively included from January 2015 to March 2018 at Centre Hospitalier Universitaire de Laval, Quebec City (Canada). Data were retrospectively collected and analyzed. A total of 713 FDR of 213 consecutives index cases [median age: 11 (6-20) years] were studied. Up to 32 (6.6%) FDR had a BAV and 26 (5.4%) had an aortic valve dysfunction. A total of 14 (2.9%) FDR had an ascending aorta dilatation according to Z-score including 6 (1.2%) patients with an ascending aorta ≥ 45 mm. No statistically significant differences regarding BAV, aortic valve dysfunction and ascending aorta dilatation prevalence were identified between generations. Screening was done in 482 (67.6%), prescribed but not done in 134 (19%), not prescribed in 92 (13%) and declined in 5 (1%) FDR. The prevalence of BAV in FDR was similar to prospective adult studies and supports actual guidelines in pediatric cardiology practice. Ascending aorta dilatation was rare in our young population. Exhaustiveness and additional burden to implement current guidelines remain a challenge in daily practice.