Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt-Oram syndrome.

Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación / Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes

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Abstract This consensus of nomenclature and classification for congenital bicuspid aortic valve and its aortopathy is evidence-based and intended for universal use by physicians (both pediatricians and adults), echocardiographers, advanced cardiovascular imaging specialists, interventional cardiologists, cardiovascular surgeons, pathologists, geneticists, and researchers spanning these areas of clinical and basic research. In addition, as long as new key and reference research is available, this international consensus may be subject to change based on evidence-based data1.

Long-term outcomes in patients with bicuspid valve stenosis and aortic dilation undergoing transcatheter valve implantation.

BACKGROUND: To date, whether ascending aorta dilation (AAD) should be considered a contraindication for transcatheter aortic valve replacement (TAVR) remains a topic of debate.. OBJECTIVE: The study investigated the clinical outcome of TAVR in patients with bicuspid aortic valve stenosis (BAV-AS) complicated by AAD. METHODS: We included patients with BAV-AS who underwent TAVR between 2012 and 2019. We collected patient perioperative clinical data., tracked clinical outcomes for over four years post-TAVR, and obtained echocardiography images one year postoperatively. The Kaplan-Meier method was employed for analyzing both unadjusted and adjusted survival data, which was compared using the log-rank test. COX regression and nomograms were used to assess the impact of AAD on post-TAVR clinical outcomes in patients with aortic stenosis (AS), with all-cause mortality as the primary clinical endpoint. RESULTS: A total of 111 BAV patients were included in this study. Long-term follow-up showed an increased mortality risk in patients with BAV-AAD (adjusted Kaplan-Meier analysis: P = .02/0.001). Cox correlation analysis indicated that age (OR = 1.137; P = .034), AAD (OR = 3.51; P = .038), and postoperative left ventricular pressure (LVSP) (OR: 0.959; P = .044) were predictive factors for mortality more than four years after TAVR in patients with BAV. The area under the curve of the Nomogram predicting long-term survival for the training set of patients based on the above metrics was 0.845 (95% CI: 0.696-0.994). Short-term cardiac ultrasound follow-up showed a more rapid rate of AA expansion (0.29 [0-0.34] vs. -1 [-3.3-1] mm/month, P = .001) and a smaller proportion of AA diameter reduction (7.1% vs. 53.7%, P = .001) in patients who died. CONCLUSIONS: Patients with BAV-AAD-AS treated with TAVR have an increased risk of long-term mortality, and clinical prediction models, including AAD age and postoperative LVSP, may predict long-term patient survival. CONDENSED ABSTRACT: The study investigated the clinical outcome of transcatheter aortic valve replacement (TAVR) in patients with bicuspid aortic valve stenosis (BAV-AS) complicated by ascending aorta dilation (AAD). Patients with BAV-AAD-AS treated with TAVR have an increased risk of long-term mortality. AAD, age and postoperative LVSP, may predict long-term patient survival. Short-term cardiac ultrasound follow-up showed a more rapid rate of AA expansion and a smaller proportion of AA diameter reduction in patients who died. A high postoperative AAD expansion rate may indicate an adverse clinical outcome. Surgery regimens for tolerable BAV-AADs and can be considered as a treatment option.

Repaired coarctation of the aorta does not affect four-dimensional flow metrics in bicuspid aortic valve disease.

OBJECTIVES: The objective of this study was primarily to compare four-dimensional flow magnetic resonance imaging metrics in the ascending aorta (AA) of patients with right-left fusion type bicuspid aortic valve (RL-BAV) and repaired coarctation of the aorta (CoA) to RL-BAV without CoA. Metrics of patients with RL-BAV were also compared to the matched group of patients with common tricuspid aortic valve (TAV). METHODS: Eleven patients with RL-BAV and CoA, 11 patients with RL-BAV without CoA and 22 controls with TAV were investigated. Peak velocity (cm/s), peak flow (ml/s) and flow displacement (%) were analysed at 5 pre-defined AA levels. In addition, regional wall shear stress (WSS, mN/m2), circumferential WSS (WSSc) and axial WSS (WSSa) at all levels were quantified in 6 sectors of the aortic circle. Averaged WSS values on each level (WSSavg, WSSc, avg and WSSa, avg) were calculated as well. RESULTS: Peak velocity at the proximal tubular AA was significantly lower in BAV and CoA group (P = 0.047) compared to BAV without CoA. In addition, the WSSa, avg was found to be higher for the BAV and CoA group at proximal AA respectively (P = 0.040). No other significant differences were found between these groups. BAV group's peak velocity was higher at every level (P < 0.001-0.004) compared to TAV group. Flow displacement was significantly higher for the BAV group at every level (P < 0.001) besides at the most distal level. All averaged WSS values were significantly higher in BAV patients in distal AA (P < 0.001-0.018). CONCLUSIONS: Repaired CoA does not relevantly alter four-dimensional flow metrics in the AA of patients with RL-BAV. However, RL-BAV majorly alters flow dynamics in the AA when compared to patients with TAV. CLINICAL TRIAL REGISTRATION NUMBER: https://www.clinicaltrials.gov/study/NCT05065996, Unique Protocol ID 5063566.

Infective Endocarditis of a Rare Etiology of Streptococcus alactolyticus: A Case Report and Literature Review.

Streptococcus alactolyticus is a non-motile Gram-positive, catalase-negative cocci, a part of group D Streptococci. In the literature, S. alactolyticus is documented as a causative agent of infective endocarditis, demonstrated by blood cultures in only four other cases, representing an extremely rare circumstance. Here, we describe a case of infective endocarditis due to S. alactolyticus in a young patient known with a bicuspid aortic valve and associated with a sigmoid precancerous polyp. The patient was also known to have blood hypertension and type II diabetes. Symptoms at the debut appeared insidiously and were non-specific: fatigue, loss of appetite, weight loss, night sweats, and fever. They lasted for the entire period of the illness with transient improvement during the courses of antibiotics. He followed more antibiotic courses prescribed for various clinical diagnoses. Each round of antibiotic treatment transitorily alleviated the symptoms, which reappeared each time after the cessation. The correct diagnosis was made only about three months after the appearance of the first clinical manifestations. This was based on ultrasound criteria (presence of vegetation and lesions of aortic cusps) and microbiological criteria (isolation of S. alactolyticus in blood cultures). A course of six weeks of ceftriaxone was considered the opportune antibiotic therapy. Similar to all other cases described in the literature, our patient presented important damage to the valvular tissue and required cardiac surgery to re-establish the normal function of the valve. The surgery consisted of the excision of the severely affected natural aortic valve and her replacement with a mechanical prosthetic valve. Following medical and surgical treatment, the patient is completely healed and has a normal life. Our case is noteworthy because of the scarcity of the involvement of S. alactolyticus in the pathogeny of infective endocarditis. This is the fifth published case with this etiology, and an overview of all five cases is provided in the article.

Long-term outcomes after aortic root replacement for bicuspid aortic valve-associated aneurysm.

OBJECTIVE: Patients with congenital bicuspid aortic valve often require root replacement. This study aims to describe their long-term rates of mortality and reoperation. METHODS: This is a multicenter retrospective study of 747 patients with bicuspid aortic valve who underwent aortic root replacement for aortic aneurysm between 2004 and 2020. Cumulative incidence curves for aortic valve and aortic reoperations were graphed. A Kaplan-Meier survival curve for the patient cohort was created alongside an age- and sex-matched curve for the US population. Multivariable Cox regression was used to determine characteristics associated with long-term mortality. RESULTS: The median age of our cohort was 54 [43-64] years old, and 101 (13.5%) patients were female. In patients with bicuspid aortic valve dysfunction, 274 (36.7%) had aortic insufficiency, 187 (25.0%) had aortic stenosis, and 142 (19.0%) had both. In-hospital mortality occurred in 10 (1.3%) patients. There were 56 aortic valve reoperations and 19 aortic reoperations, with a combined cumulative incidence of 35% (95% confidence interval [CI], 23%-46%) at 15 years. In addition, there was comparable survival between the patient cohort and the age- and sex-matched US population. Age (hazard ratio [HR], 1.04; 95% CI, 1.01-1.06), concomitant CABG (HR, 2.28; 95% CI, 1.29-4.04), and bypass time (HR, 1.01; 95% CI, 1.00-1.01) were associated with increased mortality. CONCLUSIONS: Patients who undergo aortic root replacement with bicuspid aortic valve have an increased rate of aortic reoperation (35%; 95% CI, 23%-46%) while their survival appears to be comparable to the general US population (79%; 95% CI, 73%-87%) at 15 years.

Myosin Heavy Chain 7 (MYH7) Variant Associated Cardiovascular Disease: An Unusual Case of Heart Failure in a Young Male.

A 37-year-old male with type two diabetes presented to the hospital with new-onset heart failure and renal dysfunction. His left ventricular (LV) ejection fraction was less than 10%. Transthoracic echocardiography and cardiovascular magnetic resonance (CMR) imaging also revealed severe bicuspid aortic valve stenosis, dilated cardiomyopathy with LV hypertrophy, prominent LV trabeculations, and features suggestive of mild myocarditis with active inflammation. While myocarditis was suspected on CMR imaging, his mild degree of myocardial involvement did not explain the entirety of his clinical presentation, degree of LV dysfunction, or other structural abnormalities. An extensive work-up for his LV dysfunction was unremarkable for ischemic, metabolic, infiltrative, infectious, toxic, oncologic, connective tissue, and autoimmune etiologies. Genetic testing was positive for a myosin heavy chain 7 (MYH7) variant, which was deemed likely to be a unifying etiology underlying his presentation. The MYH7 sarcomere gene allows beta-myosin expression in heart ventricles, with variants associated with hypertrophic and dilated cardiomyopathies, congenital heart diseases, myocarditis, and excessive trabeculation (formerly known as left ventricular noncompaction). This case highlights the diverse array of cardiac pathologies that can present with MYH7 gene variants and reviews an extensive work-up for this unusual presentation of heart failure in a young patient.

Progression of the ascending aorta diameter after surgical or transcatheter bicuspid aortic valve replacement.

OBJECTIVES: Ascending aorta (AA) dilatation in patients with bicuspid aortic valve (AV) is related both to genetic and haemodynamic factors. The aim of this study is to compare late progression of AA dilatation in bicuspid AV patients undergoing surgical aortic valve replacement (SAVR) versus transcatheter aortic valve implantation (TAVI). METHODS: Data of 189 consecutive patients who underwent AV replacement for severe bicuspid AV stenosis were prospectively collected. Patients who underwent SAVR were compared to patients who underwent TAVI. Indication to the procedure was validated by the institutional Heart Team. Aortic diameters were evaluated by transthoracic echocardiogram. Differences between preoperative and long-term follow-up AA diameters were compared in the 2 groups. RESULTS: Between January 2015 and December 2021, 143 (76%) patients underwent SAVR and 46 (24%) patients underwent TAVI. At 4.6 (standard deviation 1.7) years follow-up, patients in the TAVI group showed significantly lower survival (P = 0.00013) and event-free survival (P < 0.0001). AA diameter progression was lower in surgical compared to transcatheter patients, 0.95 (0.60, 1.30) vs 1.65 (0.67, 2.63) mm, P = 0.02. AA diameter progression indexed for body surface area and height was lower in the surgical group: 0.72 (0.38, 1.05) vs 1.05 (0.39, 1.71) mm/m2, P = 0.02, and 0.59 (0.36, 0.81) vs 1.11 (0.44, 1.78) mm/m, P = 0.001, respectively. At multivariable linear regression analysis transcatheter procedure, baseline aortic diameter and paravalvular leak were significantly associated with increased postoperative AA dilatation. CONCLUSIONS: Bicuspid AV patients who underwent SAVR, showed significantly less long-term AA diameter progression than patients who underwent transcatheter procedure.

Atorvastatin Effect on Aortic Dilatation and Valvular Calcification Progression in Bicuspid Aortic Valve (BICATOR): A Randomized Clinical Trial.

BACKGROUND: Ascending aorta dilation and aortic valve degeneration are common complications in patients with bicuspid aortic valve. Several retrospective studies have suggested the benefit of statins in reducing these complications. This study aimed to determine whether atorvastatin treatment is effective in reducing the growth of aortic diameters in bicuspid aortic valve and if it slows the progression of valve calcification. METHODS: In a randomized clinical trial, 220 patients with bicuspid aortic valve (43 women; 46±13 years of age) were included and treated with either 20 mg of atorvastatin per day or placebo for 3 years. Inclusion criteria were ≥18 years of age, nonsevere valvular dysfunction, nonsevere valve calcification, and ascending aorta diameter ≤50 mm. Computed tomography and echocardiography studies were performed at baseline and after 3 years of treatment. RESULTS: During follow-up, 28 patients (12.7%) discontinued medical treatment (15 on atorvastatin and 13 taking placebo). Thus, 192 patients completed the 36 months of treatment. Low-density lipoprotein cholesterol levels decreased significantly in the atorvastatin group (median [interquartile range], -30 mg/dL [-51.65 to -1.75 mg/dL] versus 6 mg/dL [-4, 22.5 mg/dL]; P<0.001). The maximum ascending aorta diameter increased with no differences between groups: 0.65 mm (95% CI, 0.45-0.85) in the atorvastatin group and 0.74 mm (95% CI, 0.45-1.04) in the placebo group (P=0.613). Similarly, no significant differences were found for the progression of the aortic valve calcium score (P=0.167) or valvular dysfunction. CONCLUSIONS: Among patients with bicuspid aortic valve without severe valvular dysfunction, atorvastatin treatment was not effective in reducing the progression of ascending aorta dilation and aortic valve calcification during 3 years of treatment despite a significant reduction in low-density lipoprotein cholesterol levels. REGISTRATION: URL: https://www.clinicaltrialsregister.eu; Unique identifier: 2015-001808-57. URL: https://www.clinicaltrials.gov; Unique identifier: NCT02679261.

Trichinellosis-Induced Eosinophilic Myocarditis Mimicking Hypereosinophilic Syndrome.

Trichinella spiralisis an uncommon parasitic disease contracted through the consumption of undercooked pork. We report the case of a 59-year-old man with a history of bicuspid aortic valve with recent travel to the Philippines and consumption of raw pork presenting with progressive myalgia and hypereosinophilia (nadir 12,940/uL) in profound cardiogenic shock in the setting of critical aortic stenosis. He underwent emergent balloon valvuloplasty, which was complicated by aortic insufficiency. This necessitated a transcatheter aortic valve replacement. However, despite hemodynamic stabilization, he developed catastrophic eosinophilic myocarditis, complicated by cardiac arrest from ventricular tachycardia. A rectus femoris muscle biopsy confirmed the diagnosis, showing a T. spiralis parasite and significant eosinophilic infiltration. Empiric treatment with albendazole, ivermectin, and methylprednisolone resulted in the significant resolution of symptoms and the liberalization of critical illness. This case highlights the challenges of diagnosing the underlying etiologies of hypereosinophilia and/or eosinophilic myocarditis, underscoring the importance of considering parasitic etiologies, particularly in endemic regions or in patients who have a significant travel history to such areas. Prompt diagnosis and treatment are essential to prevent morbidity and mortality.

Aortopathy and aortic valve surgery in patients with bicuspid aortic valve with and without raphe.

AIM: To evaluate the association between raphe in bicuspid aortic valve (BAV) patients and valve dysfunction, aortopathy and aortic valve surgery in the REBECCA registry [REgistro della valvola aortica Bicuspide della Società Italiana di ECocardiografia e CArdiovascular Imaging (SIECVI)]. METHODS: Prevalence of aortic valve dysfunction and aortopathy was investigated in BAV patients with and without raphe. Aortic valve dysfunction (regurgitation or stenosis) was categorized as mild, moderate and severe. Aortopathy was defined as annulus ≥14 mm/m2; root ≥20 mm/m2; sinotubular junction ≥16 mm/m2; ascending aorta ≥17 mm/m2, and classified in Type A, isolated ascending aorta dilatation; Type B, aortic root and ascending aorta dilatation; and Type C, isolated aortic root dilatation. RESULTS: Overall, 695 patients with BAV were enrolled; 520 (74.8%) with raphe and 175 (25.2%) without raphe. BAV patients with raphe presented more frequently with moderate or severe aortic stenosis than BAV patients without raphe (183 [35.2%] vs 34 [19.4%], p < 0.001). A higher prevalence of aortopathy, particularly Type B, was observed in patients with vs without raphe. At multivariable analysis, raphe was a predictor of aortic valve surgery at three-year follow-up (odds ratio 2.19, 95% confidence interval 1.08-4.44, p < 0.001). CONCLUSIONS: Patients with BAV and raphe have a higher prevalence of significant aortic stenosis, aortopathy, especially Type B, and a higher risk of undergoing aortic valve surgery at three-year follow-up.

Twenty-five years' experience with isolated bicuspid aortic valve repair: impact of commissural orientation.

OBJECTIVES: Repair of the bicuspid aortic valve (BAV) has evolved in the past 25 years. The aim of this study was to review and analyse the long-term durability of isolated BAV repair with particular focus on commissural orientation (CO). METHODS: All patients who underwent BAV repair for severe aortic regurgitation between October 1998 and December 2022 were included. The study group consists of all patients operated after 2009, i.e. since CO modification. The control group includes patients who were operated before 2009. CO was classified as symmetric, asymmetric and very asymmetric. RESULTS: Overall, 594 adult patients (93% male; mean age 42 years) were included. At 15 years, survival was 94.8% [standard deviation (SD): 2.2]; freedom from reoperation was 86.8% (SD: 2.3). Freedom from aortic insufficiency ≥II was 70.8% (SD: 4.7) at 15 years. Modification of CO by sinus plication was performed in 200 (33.7%) instances. Using competing risks analysis, the absence of effective height measurement (P = 0.018), very asymmetric CO (P = 0.028), the presence of calcification (P < 0.001), the use of pericardial patch (P < 0.001), the use of subcommissural sutures (P < 0.001) and preoperative endocarditis (P = 0.005) were identified as independent predictors for reoperation. Follow-up was 97% complete (4228 patient-years); mean follow-up was 7 years (SD: 5). CONCLUSIONS: Isolated BAV repair leads to good survival and durability in all morphologic types if cusp repair is guided by effective height, suture annuloplasty is performed, and CO is modified using sinus plication in asymmetrical valves. Very asymmetrical valves may should be treated with a lower threshold for replacement.

Region-specific delamination strength of ascending thoracic aortic aneurysm of elderly hypertensive patients with bicuspid and tricuspid aortic valves.

Both ageing and hypertension are clinical factors that may lead to a higher propensity for dissection or rupture of ascending thoracic aortic aneurysms (ATAAs). This study sought to investigate effect of valve morphology on regional delamination strength of ATAAs in the elderly hypertensive patients. Whole fresh ATAA samples were harvested from 23 hypertensive patients (age, 71 ± 8 years) who underwent elective aortic surgery. Peeling tests were performed to measure region-specific delamination strengths of the ATAAs, which were compared between patients with bicuspid aortic valve (BAV) and tricuspid aortic valve (TAV). The regional delamination strengths of the ATAAs were further correlated with patient ages and aortic diameters for BAV and TAV groups. In the anterior and right lateral regions, the longitudinal delamination strengths of the ATAAs were statistically significantly higher for BAV patients than TAV patients (33 ± 7 vs. 23 ± 8 mN/mm, p = 0.01; 30 ± 7 vs. 19 ± 9 mN/mm, p = 0.02). For both BAV and TAV patients, the left lateral region exhibited significantly higher delamination strengths in both directions than the right lateral region. Histology revealed that disruption of elastic fibers in the right lateral region of the ATAAs was more severe for the TAV patients than the BAV patients. A strong inverse correlation between longitudinal delamination strength and age was identified in the right lateral region of the ATAAs of the TAV patients. Results suggest that TAV-ATAAs are more vulnerable to aortic dissection than BAV-ATAAs for the elderly hypertensive patients. Regardless of valve morphotypes, the right lateral region may be a special quadrant which is more likely to initiate dissection when compared with other regions.

Reversible complete atrioventricular block caused by aortic bicuspid valve calcification with severe aortic stenosis: a case report.

Background: The aetiology of secondary complete atrioventricular blocks includes ischaemia, cardiac sarcoidosis, electrolyte imbalance, drug use, rheumatic fever, and infections such as Lyme disease and endocarditis. Diagnosis is important since some of these causes are reversible. Although several studies have reported on aortic valve calcification causing complete atrioventricular blocks, no study has described improvement of complete atrioventricular blocks by removal of the calcification. Case summary: A 42-year-old man with syncope had a Mobitz type II atrioventricular block, an alternating bundle branch block, and severe aortic stenosis. We identified a 10 s paroxysmal complete atrioventricular block with pre-syncope and performed pacemaker implantation. Electrocardiography-gated computed tomography confirmed that the calcification had reached the muscular septum. 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) revealed significant FDG uptake with high CT value of calcification in basal interventricular septum. The calcification in the septum was removed carefully, and aortic valve replacement was performed. The atrioventricular conduction capacity improved post-surgery. During the 1-year follow-up, the patient reported dramatic improvement in exercise capacity. We also noted an improvement of <0.1% in the right ventricular pacing burden. Discussion: Complete atrioventricular blocks occur in patients with aortic stenosis accompanied by severe calcification of the aortic valve, which are visualized comprehensively by echocardiography. Electrocardiography-gated computed tomography and FDG-PET enabled detailed evaluation of the extent of calcification and pre- and post-operative tissue inflammation. Hence, we suspected that the calcification in the septum was causing complete atrioventricular block. Moreover, clinicians should recognize that aortic valve calcification with aortic stenosis can cause complete atrioventricular blocks.

Bicuspid Aortic Valve Disease With Early Onset Complications: Characteristics And Aortic Outcomes.

Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults but can also cause childhood-onset complications. In multicenter study, we found that adults who experience significant complications of BAV disease before age 30 are distinguished from the majority of BAV cases that manifest after age 50 by a relatively severe clinical course, with higher rates of surgical interventions, more frequent second interventions, and a greater burden of congenital heart malformations. These observations highlight the need for prompt recognition, regular lifelong surveillance, and targeted interventions to address the significant health burdens of patients with early onset BAV complications.

Later aorta operation after aortic valve replacement for bicuspid aortic valve.

BACKGROUND: We investigated long-term outcomes, particularly later aorta operations and overall death in patients who underwent aortic valve replacement for bicuspid aortic valve without aortic surgery. METHODS: Between January 2002 and December 2022, 274 patients underwent aortic valve replacement for bicuspid aortic valve at our institution. Of them, 181 patients who did not undergo aortic surgery, in accordance with current guidelines, were analyzed retrospectively. RESULTS: The median follow-up duration was 6.1 (2.0-10.6) years, and follow-up was completed in 97.8% of pateints. There were 3 patients (1.7%) who underwent later aorta operation during follow-up period. The cumulative later aorta operation rate at 10 years adjusting overall death as competing risk was 16.3%, and the estimated rates of freedom from overall death at 10 years was 83.7%. Fine-Gray competing risk regression model showed that aortic valve stenosis was only the predictor of later aorta operation (hazard ratio 8.477; p = 0.012). In multivariable Cox models, predictors of overall death were aortic valve stenosis (hazard ratio: 8.270, 95% confidence interval: 1.082-63.235; p = 0.042) and operation time (hazard ratio: 1.011, 95% confidence interval: 1.004-1.017; p = 0.002). CONCLUSIONS: Patients with bicuspid aortic valve with ascending aortic diameter less than 45 mm are at low risk of later aorta operation after isolated aortic valve replacement.

miRNA Regulation of Cell Phenotype and Parietal Remodeling in Atherosclerotic and Non-Atherosclerotic Aortic Aneurysms: Differences and Similarities.

Aortic aneurysms are a serious health concern as their rupture leads to high morbidity and mortality. Abdominal aortic aneurysms (AAAs) and thoracic aortic aneurysms (TAAs) exhibit differences and similarities in their pathophysiological and pathogenetic features. AAA is a multifactorial disease, mainly associated with atherosclerosis, characterized by a relevant inflammatory response and calcification. TAA is rarely associated with atherosclerosis and in some cases is associated with genetic mutations such as Marfan syndrome (MFS) and bicuspid aortic valve (BAV). MFS-related and non-genetic or sporadic TAA share aortic degeneration with endothelial-to-mesenchymal transition (End-Mt) and fibrosis, whereas in BAV TAA, aortic degeneration with calcification prevails. microRNA (miRNAs) contribute to the regulation of aneurysmatic aortic remodeling. miRNAs are a class of non-coding RNAs, which post-transcriptionally regulate gene expression. In this review, we report the involvement of deregulated miRNAs in the different aortic remodeling characterizing AAAs and TAAs. In AAA, miRNA deregulation appears to be involved in parietal inflammatory response, smooth muscle cell (SMC) apoptosis and aortic wall calcification. In sporadic and MFS-related TAA, miRNA deregulation promotes End-Mt, SMC myofibroblastic phenotypic switching and fibrosis with glycosaminoglycan accumulation. In BAV TAA, miRNA deregulation sustains aortic calcification. Those differences may support the development of more personalized therapeutic approaches.

Aortic root enlargement and replacement of the ascending aorta in type 0 aortic valve stenosis.

INTRODUCTION: This case report aims to describe an aortic root enlargement in combination with the replacement of the ascending aorta in a patient presenting with severe aortic valve stenosis. CASE REPORT: A 68-year-old woman with severe aortic stenosis due to a type 0 bicuspid aortic valve and an aortic aneurysm underwent surgery for treatment. The annulus was preoperatively measured with 19 mm. Enlargement was performed by using a tissue patch to create a neo-noncoronary sinus and enlarge the root. DISCUSSION: Patients with a small aortic root face an increased risk of patient prosthesis mismatch. Enlarging the aortic root can mitigate this, but it extends cross-clamp and overall operative times. This case shows the need for carefully planned surgical interventions to optimize outcomes in complex anatomies. CONCLUSIONS: Each step of the performed surgery is well-established, however the combination and the creation of a neo-noncoronary sinus is not described so far.