(1) Background: To identify the association between the presence or absence of raphe and aortic valve dysfunction as well as the presence of aortopathy in patients with bicuspid aortic valve (BAV); (2) Methods: This retrospective study enrolled 312 participants (mean [SD] age, 52.7 [14.3] years; 227 men [72.8%]) with BAV. The BAVs were divided into those with presence (raphe+) or absence (raphe-) of raphe. Valvular function was classified as normal, aortic regurgitation (AR), or aortic stenosis (AS) using TTE. The pattern of BAV aortopathy was determined by the presence of dilatation at the sinus of Valsalva and the middle ascending aorta using CCT.; (3) Results: BAVs with raphe+ had a higher prevalence of AR (148 [79.5%] vs. 48 [37.8%], P < .001) but a lower prevalence of AS (90 [48.6%] vs. 99 [78.0%], P < .001) compared with those with raphe-. The types of BAV aortopathy were significantly different (P = 0.021) according to those with BAV-raphe+ and BAV-raphe-.; (4) Conclusions: The presence of a raphe was significantly associated with a higher prevalence of AR but a lower prevalence of AS and combined dilatation of the aortic root and middle ascending aorta. The presence of raphe was an independent determinant of AR.

Bicuspid aortic valve(BAV) is a common congenital heart defect often associated with ascending aorta dilation. Current guidelines suggest surgical intervention for diameters ≥45mm in conjunction with surgical aortic valve replacement(SAVR). However, the optimal management of ascending aortas measuring 40-44mm remains controversial. Objectives: This study aims to evaluate the evolution of aortic diameter in patients with BAV and ascending aorta diameters between 40 and 44 mm undergoing AVR, assessing whether a conservative approach is justified. Methods: We conducted a retrospective observational study, analyzing 88 BAV patients who underwent SAVR between January 2012 and December 2018. Patients were divided into two groups based on preoperative ascending aorta diameters: &lt;40 mm (Group 1, n=15) and ≥40 and &lt;45 mm (Group 2, n=11). Follow-up of at least 5 years included aortic dilation rates, survival, and reoperation rates. Results: No significant differences were observed in aortic dilation between the two groups during follow-up, with overall annual dilation rates of 0.2±0.07mm/year. Survival rates were 86.3% for Group 1 and 81.9% for Group 2, with no reoperations required in either group. Conclusions: Patients with BAV and ascending aorta diameters of 40-44 mm do not require prophylactic aortic replacement during AVR, provided they undergo regular follow-up. These findings support current guidelines advocating conservative management for ascending aorta diameters in this range. However, in younger patients or those nearing the 45 mm threshold, surgical replacement may still be considered to preempt future complications.

Background: The role of NFATC genes expression in BAV progression is not fully understood. Aim of study is to determine the significance of NFATC1 and NFATC4 gene expression for myocardial changes in children with BAV. Methods: In 47 children with BAV the standard Doppler echocar-digraphic characteristics were detected and the expression of the NFATC1 and NFATC4 genes was studied. Results: PWTd, AoPPG, in BAV patients were significantly higher compared to healthy controls (PWTd median(min-max) 9 (7-10) mm vs 7 (6-8) mm), AoPPG median (min-max) 7,79 (2,98-15,09) mm Hg vs 2,94 (2,42-3,72) mm Hg. Expression of NFATC1 gene in BAV children was significantly higher compared to NFATC4 (NFATC1 median (min-max) 70,88 (8,79-106,51) e.u. vs 7,72 (1,74-22,67) e.u., respectively p<0,05). Significant correlation of NFATC1 expression with Ao found (R=+0,53, p<0,05). In BAV patients with PWTd > 8 mm and Ao> 21 mm the NFATC1 expression was significantly higher compare to those with PWTd< =8 mm and Ao<=21 mm NFATC1 median (min-max) 45,49 (5,01-101,52) e.u. vs 15,53 (2,36-44,40) e.u., p<0.05 and 81.11 (20.27-101.10) e.u. mm vs 12.16 (2,40-45.49) e.u., p<0.05, respectively) Conclusion: in children with BAV the high expression of the NFATC1 calcineurin signalling pathway gene is associated with elevated PWTd and Ao.

Introduction and importance: Congenital bicuspid aortic valve (BAV) is a common cardiac malformation predisposing individuals to aortic stenosis, regurgitation, and aortopathy. This risk persists even after aortic valve replacement (AVR). Case presentation: We report a case of a male in his 60s with a history of BAV who underwent bioprosthetic aortic valve replacement (BVR) and ascending aorta/root repair in 2014. The patient was noncompliant with follow-up and presented nine years later with severe bioprosthetic aortic stenosis and an 8.0 cm ascending aortic aneurysm with no symptoms. Emergent redo BVR and aneurysm repair were successful. Clinical discussion: It should be emphasized that successful outcomes for BAV patients require a lifelong commitment to surveillance, even after surgical intervention. Noncompliance can lead to life-threatening consequences like bioprosthetic valve deterioration or progressive aortic dilation. Conclusion: This case highlights the importance of early BAV diagnosis for ongoing monitoring, accessible follow-up care after complex cardiac procedures, and addressing patient barriers to treatment adherence.

Bicuspid Aortic valve Stenosis (BCAS) with an incidence of 3% of the world's population constitutes the most frequent Congenital Heart Disease whereas all other subtypes collectively constitute 1% of all life births. Most and the extreme severity spectrum of valvular Aortic Stenosis (VAS) in adulthood are cases of congenital bicuspid aortic valve. It seems that the congenital occurrence of the bicuspid aortic valve is a major prerequisite of the pathological calcifications and fibrosis seen in adults. Those progressive changes can't be explained by sole hemodynamic destructive forces but other factors inherent to the bicuspid valve tissue are also contributing. Therapeutic options of (VAS) are relatively stagnant and have been limited to invasive and surgical options. Prudent observation of the risk factors of some CHDs including BCAS was the epigenetic effect of planetary electromagnetic field on the delicate process of endothelial mesenchymal transformation (EndoMT). The incidence of BCAS is progressively increasing as we depart north from the equator to the north pole. A deeper understanding of the cellular and molecular mechanisms underlying EndoMT in congenital as well as acquired heart diseases is expected to open a new era in reversing heart disease in the human species. The potential to manipulate EndoMT and its signaling pathways or to reverse it with external electromagnetic power is an exciting therapeutic option for a wide array of congenital and acquired heart diseases including bicuspid aortic stenosis (BCAS) in the human species.

Abstract: The pathobiology of ascending aorta aneurysms (AAA) onset and progression is not well understood and only partially characterized. AAA are also complicated in case of bicuspid aorta valve (BAV) anatomy. There is emerging evidence about the crucial role of endothelium-related pathways, which show in AAA an altered expression and function. Here, we examined the involvement of ERG-related pathways in the differential progression of disease in aortic tissues from patients having a BAV or tricuspid aorta valve (TAV) with or without AAA. Our findings identified ERG as a novel endothelial-specific regulator of TGF-β-SMAD, Notch, and NO pathways, by modulating a differential fibrotic or calcified AAA progression in BAV and TAV aortas. We provided evidence that calcification is correlated to different ERG expression (as gene and protein), which appears to be under control of Notch signaling. The latter, when increased, associated with an early calcification in aortas with BAV valve and aneurysmatic, was demonstrated to favor the progression versus severe complications, i.e., dissection or rupture. In TAV aneurysmatic aortas, ERG appeared to modulate fibrosis. Therefore, we proposed that ERG may represent a sensitive tissue biomarker to monitor AAA progression and a target to develop therapeutic strategies and influence surgical procedures.