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Background Current treatment options and outcomes for acute uncomplicated thoracic Type-B aortic dissection (TBAD) remain unclear between medical management (MED) and thoracic endovascular aortic repair (TEVAR). In this study we aim to compare both strategies in terms of all-cause mortality, aortic dilation, and aortic rupture. Methods MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials were queried from January 1990 through March 2017. Only studies comparing TEVAR to MED for acute uncomplicated TBAD were included. Random-effects meta-analysis was used to pool outcomes across studies. Study outcomes included short (1 month), intermediate (1 year), and mid-term (2-5 year) all-cause mortality. Additional outcomes included aortic dilation and rupture at 1 year. Results A total of 1,960 patients (64.3 years; 75.8% male) were included from six studies (one prospective and five retrospective). No difference was observed in short-term (odd ratio [OR] 0.73 with 95% confidence interval [CI] 0.47 to 1.12, P = 0.15), intermediate (OR 0.99 with 95% CI 0.56 to 1.73, P = 0.96), or mid-term all-cause mortality (OR 1.12 with 95% CI 0.54 to 2.32, P = 0.75). No difference in aortic dilation with either modality was noted at 1-year (OR 1.11 with 95% CI 0.76 to 1.64, P = 0.59). TEVAR was associated with a significantly lower 1-year risk of aortic rupture (OR 2.49 with 95% CI 1.23 to 5.06, P = 0.01). Conclusion There were no short, intermediate, or mid-term differences in mortality between TEVAR or MED in patients with acute uncomplicated TBAD. Although the dilation rate was similar between both groups, TEVAR was associated with lower likelihood of aortic rupture at 1 year.

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, pConclusionsNormofunctional 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.

Background: It is recommended that dilated ascending aortas (≥45 mm) should be replaced at the time of aortic valve replacement (AVR) for bicuspid aortic valve (BAV). The risk of progressive sinus of Valsalva dilatation after AVR and ascending aorta replacement is less clear. Methods: We identified 156 patients (age 56.2±10.8 years, 46 females) who underwent AVR and ascending aorta replacement in our institution from 2010–2014, 124 (79%) of whom had BAV. Aortic root and ascending aorta sizes were determined from preoperative and the most recent echocardiograms. The mean follow-up time was 34.4±22.3 months, and 97% of patients completed the follow-up. Results: The operative mortality rate was 1.3%. During a follow-up of up to 75.2 months, there were no late reoperations for aortic root dissection or rupture. The mean preoperative aortic root diameters in the tricuspid aortic valve (TAV) and BAV groups were 42.2±5.4 and 37.5±5.4 mm, respectively (P=0.69). After operation, most of the patients had reduced aortic root sizes, as the mean postoperative root diameters in the TAV and BAV groups were 39.6±5.2 and 35.7±5.1 mm, respectively (P=0.99). Conclusions: To avoid the risks associated with aortic root replacement, it is reasonable to spare the aortic roots in the setting of AVR and ascending aorta replacement for BAV with a dilated ascending aorta and relatively normal sinuses of Valsalva.

Background We aimed to determine the circulating miRNA expression profile associated with BAV and aortic dilation to provide diagnostic and prognostic biomarkers for BAV and/or aortic dilation. Methods and results We applied a miRNome-wide microarray approach using plasma samples (n = 24) from healthy tricuspid aortic valve individuals, BAV patients and BAV patients with aortic dilation to compare and identify the specific miRNAs associated with BAV and aortic dilation. In a second stage, the expression patterns of the miRNA candidates were validated by RT-qPCR in an independent cohort (n = 43). The miRNA microarray data and RT-qPCR analyses revealed that the expression levels of circulating miR-122, miR-130a and miR-486 are significantly influenced by the morphology of the aortic valve (bicuspid/tricuspid) and could be functionally involved in the regulation of TGF-β1 signalling. Furthermore, the expression pattern of miR-718 in the plasma was strongly influenced by dilation of the ascending aorta. miR-718 expression was inversely correlated with the aortic diameter (R = −0.63, p = 3.1 × 10−5) and was an independent predictor of aortic dilation (β = −0.41, p = 0.022). The genes targeted by miR-718 are involved in the regulation of vascular remodelling. Conclusions We propose that miR-122, miR-130a, miR-486 and miR-718 are new molecular features associated with BAV and aortic dilation principally by the activation of TGF-β1 pathway and vascular remodelling mediated by VEGF signalling pathways.

Bicuspid aortic valve (BAV) is the most common congenital heart defect affecting 0.5%–2% of the adult population, with a male predominance of 3:1.1 BAV is usually characterised by the presence of two unequal-sized leaflets, the larger being the one with the raphe, which arises more frequently (approximately 70%–80%) between right and left coronary cusps.2 Several variants have been identified in sporadic BAV, such as NOTCH1 (9q34.3), FBN1 (15q21.1), NKX2-5 (5q34), MATR3 (5q31.2) and GATA5 (20q13.33), but none of them have provided consistent insight regarding causal mechanisms associated with this pathology. There is some evidence that BAV is the result of abnormal embryonic aortic cusps formation, but complete understanding of the mechanisms underlying this developmental disease remain elusive. In addition, non-valvular phenotypes are commonly documented in patients with BAV: aortic dilation or/and aneurysm are frequently associated abnormalities. This inter-relationship observed between BAV and other coexisting diseases can explain the gaps in understanding mechanisms associated with BAV formation and evolution over time. Even if BAV is usually considered as a benign condition, an important clinical burden is associated with the disease. During adulthood, patients with BAV are more likely to develop life-threatening conditions such as infective endocarditis or severe aortic regurgitation and/or aortic stenosis, highlighting the important morbidity associated with BAV.2 This is also emphasised by the higher risk of undergoing valve surgery reported in patients with BAV as compared with patients with tricuspid aortic valve (TAV; almost 50% of patients undergoing surgery for isolated severe aortic stenosis present BAV).3 Nevertheless, even if such complications and rates of surgery could be associated with higher long-term risks for patients with BAV, no survival penalty has been reported.4 Recent approaches based on early identification of patients with BAV and familial screening, coupled with further close follow-up and ‘prophylactic’ surgery management could …

Large-vessel involvement (LVI) in giant cell arteritis (GCA) includes different clinical and imaging patterns that are rarely described separately at diagnosis and whose specific cardiovascular outcomes are unknown. We conducted a nationwide retrospective study and included GCA patients with LVI demonstrated on imaging at diagnosis between 2007 and 2017. We analyzed the prognosis of three different imaging patterns of LVI present at diagnosis, with some of them overlapping but with the first one present in all patients: 1) inflammation of the aorta and/or its branches; 2) dilation of the aorta; and 3) stenosis of the aortic branches. A control group of GCA patients without LVI was constituted. We included 183 patients with LVI and 105 controls without LVI. Altogether, among the 183 patients who all showed inflammation of the aorta and/or its main branches, concomitant aortic dilation and large-vessel stenosis were observed in 27 (15%) and 55 (30%) patients, respectively. During the follow-up period, new cardiovascular events occurred in 49% and 11% of LVI patients and controls, respectively (p 0.0001). Inflammation of the aorta and/or its branches (HR: 3.42 [2.09-5.83], p 0.0001) and large-artery stenosis (HR: 2.75 [1.80-4.15], p 0.0001) were independent predictive factors of new cardiovascular events. Conversely, the use of an immunosuppressant besides corticosteroids was a protective factor against new cardiovascular events (HR: 0.44 [0.29-0.66], p 0.0001) and the development of aortic dilation (HR: 0.43 [0.23-0.77], p = 0.005). This study suggests different forms of cardiovascular events according to the initial imaging pattern of LVI.

This study determined the circulating levels of TGF-β1 and its association with aortic dilation and elastic properties in congenital heart patients. Forty-six patients after tetralogy of Fallot (TOF) repair, 21 patients post arterial switch and 15 patients post atrial switch for transposition of the great arteries (TGA), 27 patients post Fontan procedure, and 36 controls were studied. Aortic dimensions and elastic properties and ventricular function were assessed by echocardiography. Serum TGF-β1, metalloproteinase (MMP)-2 and MMP-9 levels were quantified. Compared with controls, all groups of patients had significantly larger ascending aortic dimensions and worse elastic properties (all p

Bicuspid aortic valve (BAV), the most common congenital heart defect, is associated with an increased prevalence of aortic dilation, aortic rupture and aortic valve calcification. Endothelial cells (ECs) play a major role in vessel wall integrity. Little is known regarding EC function in BAV patients due to lack of patient derived primary ECs. Endothelial colony forming cells (ECFCs) have been reported to be a valid surrogate model for several cardiovascular pathologies, thereby facilitating an in vitro system to assess patient-specific endothelial dysfunction. Therefore, the aim of this study was to investigate cellular functions in ECFCs isolated from BAV patients. Outgrowth and proliferation of ECFCs from patients with BAV (n = 34) and controls with a tricuspid aortic valve (TAV, n = 10) were determined and related to patient characteristics. Interestingly, we were only able to generate ECFCs from TAV and BAV patients without aortic dilation, and failed to isolate ECFC colonies from patients with a dilated aorta. Analyzing EC function showed that while proliferation, cell size and endothelial-to-mesenchymal transition were similar in TAV and BAV ECFCs, migration and the wound healing capacity of BAV ECFCs is significantly higher compared to TAV ECFCs. Furthermore, calcification is blunted in BAV compared to TAV ECFCs. Our results reveal ECs dysfunction in BAV patients and future research is required to unravel the underlying mechanisms and to further validate ECFCs as a patient-specific in vitro model for BAV.

El síndrome de Marfan (SMF) es una enfermedad del sistema conectivo de tipo autosómica dominante de afección multiorgánica. Su buen pronóstico dependerá de un eficiente diagnóstico, tratamiento y al acoplamiento del paciente. El objetivo del proyecto se basa en la descripción de la calidad de vida y evaluación del nivel de conocimiento de un individuo con MFS sobre su enfermedad, sus manifestaciones, tratamientos y recomendaciones. Para ello se realizó un cuestionario, con puntos detallados, tales como: tiempo de diagnóstico, seguimiento por especialidades médicas, problemas de salud implicados por el síndrome, entre otras. Los resultados obtenidos en la encuesta muestran que el paciente, respecto a puntos generales de la enfermedad indicó como verdaderas 41% de las preguntas, un 27% de falsos, y no sabe o indica no tener conocimiento en un 32%, los cual indica un poco de vacío en cuanto a conocimiento. Conclusión: el conocimiento de SMF permite llevar una buena calidad de vida ya que hay una mejor adaptación al tratamiento recibido; lo cual mejora la resolución del cuadro a presentar. Marfan syndrome (MFS) is an autosomal dominant connective system disease of a multiorgan condition. the good prognosis will depend on an efficient diagnosis, treatment and coupling of the patient. The objective of the project is based on the description of the quality of life and evaluation of the level of knowledge of an individual with SFM about his disease, its manifestations, treatments and recommendations. To do this, a questionnaire was carried out, with detailed points, such as: diagnostic time, follow-up by medical specialties, health problems implicated by the syndrome, among others. The results obtained in the survey show that the patient, regarding general points of the disease indicated as true 41% of the questions, 27% false, and does not know or indicates not having knowledge in 32%, which indicates a bit of a vacuum in terms of knowledge. Conclusion: Knowledge of MFS allows a good quality of life, since there is a better adaptation to the treatment received, which improves the resolution of the table to be presented.

Purpose of review The incidence of aortic dilation and acute complications (rupture and dissection) is higher in patients with a bicuspid aortic valve (BAV), the most frequent congenital heart defect. The present review focuses on the current knowledge in the genetics of BAV, emphasizing the clinical implications for early detection and personalized care. Recent findings BAV is a highly heritable trait, but the genetic causes remain largely elusive. NOTCH1 is the only proven candidate gene to be associated with both familial and sporadic BAV. Other genes have been reported to be associated with BAV, but some of these associations may result from coexisting disease. The application of modern high-throughput technologies (next generation sequencing, genome-wide copy number and genome-wide methylation arrays) have begun to dissect the genetic heterogeneity underlying BAV as well as the diverse molecular pathways involved in the progression of BAV aortopathy. Summary The clinical variability seen in BAV aortopathy, in terms of phenotype and natural/clinical history, suggests complex interactions between primary genetic defects, other modifier genes, epigenetic factors (DNA methylation or histone modifications, microRNA) and environmental factors (disturbed flow). Integrated, more comprehensive studies are needed for elucidating these connections to develop more individualized and accurate risk assessment methods.

We review current knowledge regarding the natural transition of aortic dissection from acute to chronic stages. As this is not well understood, we also bring to bear new data from our institution. Type A dissection rarely transitions naturally into the chronic state; consequently, information is limited. Type B dissections are routinely treated medically and indeed undergo substantial changes during their temporal course. General patterns include: 1) the aorta dilates and, absent surgical intervention, aortic enlargement may cause mortality; 2) continued false lumen patency, particularly with an only partially thrombosed false lumen, increases aortic growth, whereas calcium-channel blockers affect aortic dilation favorably; 3) aortic dilation manifests a temporal dynamic, with early rapid growth and deceleration during transition; 4) the intimal flap dynamically changes over time via thickening, straightening, and loss of mobility; and 5) temporal remodeling, on the cellular level, initially shows a high grade of wall destruction; subsequently, significant fibrosis ensues.

The data included here support the research article “Circulating endothelial microparticles are elevated in bicuspid aortic valve (BAV) disease and related to aortic dilation” (Alegret et al., 2016 [1]) where circulating levels of platelet endothelial cell adhesion molecule (PECAM+) endothelial microparticles (EMPs) were identified as a biological variable related to aortic dilation in patients with BAV disease. The data presented in this article are composed by four tables and one figure containing the clinical and echocardiographic characteristics of the patients (Alegret et al., 2016 [1]) included in this study, and summarize the results of multivariate linear analyses. Furthermore, is also included a figure showing a representative flow cytometry dot plots and histograms used in PECAM+ EMPs quantification is also included.

Introduction: Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue with manifestations in skeletal, cardiovascular and ocular systems. Areas covered: This paper reviews the effect of FBN1 mutation on phenotype, novel surgical techniques and losartan treatment in MFS. Expert opinion: Early diagnosis by the revised Ghent criteria and timely prophylactic (valve-sparing) aortic root replacement are important factors to improve life expectancy. Endovascular aortic stenting should not be done in MFS patients. beta-blockers remain the drug of choice in preventing aortic dilation and dissection. Although controversial results are reported, losartan is a safe additive or alternative to beta-blockers, especially in patients with side effects or intolerance to beta-blocker therapy. The different outcomes in losartan trials may be due to the large amount of different FBN1 mutations, influencing the drug response; patients with an haploinsufficiency mutation seemed to respond better to losartan treatment than patients with a dominant negative mutation. In addition, patients with a haploinsufficiency mutation are at increased risk for aortic dissection and cardiovascular mortality. The final ongoing trials and collaborative meta-analysis are awaited for the definitive role of losartan in patients with MFS. Tremendous progress in the understanding of MFS has been reached

Aortic dilation is associated with congenital bicuspid aortic valve (BAV) disease, and its etiology is still not completely understood. The aim of this study is to provide further insight into aortic hemodynamics in a BAV population with different degrees of aortic dilation and regurgitation in comparison with a patient without pathology. A fluid–structure interaction (FSI) numerical approach is implemented regarding patient-specific geometries, where the aortic valves are defined by analytical orifices. Results show that, while the patient without pathology displays a typical hemodynamic behavior of flows in bends, BAV-related aortas present an accelerated flow along the outer aortic wall. Wall shear stress (WSS) overload in the outer curvature is observed, more marked in more dilated aortas. Moreover, helices in the ascending aorta are present in these patients, enhanced with greater dilation. These findings support the fact that hemodynamic factors play an important role in aortic dilation onset and development in BAV patients, caused by a prolonged exposure of the outer ascending aortic curvature to altered WSS. Besides, our results suggest that greater aortic regurgitation may be associated with abnormal WSS distributions in the ascending aorta during diastole, which can facilitate aortic root dilation.

Background Marfan syndrome is a multi-systemic disorder characterized by progressive aortic dilation. Follow-up imaging is performed to monitor aortic dimensions, traditionally assessed by 2D diameter measurements, which cannot capture complex aortic shape variations. Statistical shape analysis is a novel technique that allows for a more comprehensive characterisation of the aortic morphology by analysing the overall 3D shape. Aims The aim of the study was to create a 3D average (template) aorta for Marfan patients using statistical shape analysis and to study population shape variations that could be more indicative than traditional 2D measurements in patient follow-up. 3D reconstructions from cardiovascular magnetic resonance imaging of 46 Marfan patients were included in the study. Eleven shape components (shape modes) described the shape variations in the population and were compared with traditional morphometric and clinical data. Results The first shape mode (mode 1) correlated with the vessel centreline length, thus representing mainly aortic size. Mode 1 dimensions increased with the increase of the aortic z-score derived from traditional image modalities. Good correlation was found between the aortic template and traditional dimensions. Conclusion Prospective studies are required to assess the role of 3D aortic morphology in predicting clinical outcomes in this population.

Limited intimal tear (LIT) without intramural hematoma is a recognized variant of acute aortic dissection requiring emergency surgical treatment, similar to the classical dissection type. A challenge to multimodality imaging techniques, LIT may be missed in the setting of acute aortic syndrome [(1

Introduction: The angiotensin II (Ang II) type 1 receptor (AT1R) antagonist losartan can slow aortic enlargement in mouse models and patients with Marfan syndrome. We have previously shown that losartan attenuates aortic enlargement and remodeling induced by thoracic aortic constriction (TAC). Objective: We investigated the role of the Ang II type 2 receptor (AT2R) in an acute hypertensive remodeling of the ascending aorta induced by TAC. Methods: 160 male C57BL/6J mice were subjected to TAC surgeries with 27-gauge needle or sham surgery. Echocardiography measurements were performed 2 weeks post-operation using the Vevo 3100 imaging system. Blood pressure was measured in the ascending aorta using a Millar catheter introduced through the right common carotid artery. Results: TAC induced significant enlargement in aortic root and ascending aorta two weeks after surgery. The angiotensin converting enzyme inhibitor, captopril, decreased intraluminal systolic blood pressure (SBP) to the same degree as losartan, but did not prevent the increased aortic dilation, adventitial inflammation, medial elastin breakage, or Mmp9 expression compared with TAC mice. Captopril plus an AT2R agonist, compound 21 (C21) attenuated TAC-indcued aortic dilation, elastin break numbers and Mmp9 expression similar to losartan, despite an increase in SBP compared with captopril-treated TAC mice. Consistent with these results, treatment with losartan and an AT2R antagonist, PD123319, reversed the protective effects of losartan on TAC-induced aortic enlargement and remodeling. Note that treating with captopril and a Mas receptor agonist AVE0991 did not prevent TAC-induced aortic enlargement. Importantly, treating with C21 alone did not prevent TAC-induced aortic dilation, elastin breakage or Mmp9 expression despite significantly decreased SBP. Conclusions: These data indicate signaling through both AT1R and AT2R are key modulators in aortic dilation and remodeling with acute increases in biomechanical forces induced by TAC and these protective effects are independent of alterations in blood pressure.

Objective: Meta-analysis of data derived from Marfan patients in the Genetically-Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) consortium revealed that thoracic aortic aneurysms occur more frequently in men than in women. To determine the characteristics of sexual dimorphism in experimental thoracic aortic aneurysms of a Marfan model, we determined ascending aortic and aortic root morphology in male and female fibrillin-1 haploinsufficent (FBN1 C1041G/+) mice using ultrasonography. Method and Results: Aortas from 4 to 6 week old male and female FBN1 C1041G/+ mice and their wild type littermates were assessed by high frequency ultrasonography. Mice were anesthetized and maintained at a heart rate of 450-550 beats per minute. Ultrasound images were captured using a Vevo 3100 instrument with a 40 MHz tranducer. The maximal luminal diameter of ascending aortic between the sinotubular junction and the innominate artery, and the aortic root diameter at the sinus of valsalva, were measured in mid-systole and end-diastole by two independent observers who were blinded to mice identity. FBN1 C1041G/+ mice demonstrated greater ascending aortic dilation in male mice compared to female mice, whereas no difference in aortic root diameter were detected between male and female wild type littermates. In addition, modest ascending aortic dilation was detected before aortic root dilation in FBN1 C1041G/+ mice. Ascending aortas from FBN1 C1041G/+ mice also demonstrated loss of elasticity as evidenced by reduced expansion in systole. Interestingly, this difference was detected much earlier than expected. Conclusion: The fibrillin-1 haploinsufficent model of Marfan syndrome associated thoracic aortic aneurysm demonstrate sexual dimorphism in ascending aortic dilation. Loss of elasticity in the ascending aorta is also an early manifestation in this thoracic aortic aneurysm model.

International audience; ObjectivesLarge-vessel involvement (LVI) can occur in giant-cell arteritis (GCA) and may represent a distinct disease subgroup with a higher risk for aortic dilation. This study aimed to better characterize the presentation and evolution of LVI in patients with GCA.Patients and methodsA retrospective multicenter study enrolled 248 GCA patients with LVI and 301 GCA patients without LVI on imaging. Factors associated with aortic dilation were identified in a multivariable model.ResultsThe patients with LVI were younger (p < 0.0001), more likely to be women (p = 0.01), and showed fewer cephalic symptoms (p < 0.0001) and polymyalgia rheumatica (p = 0.001) but more extracranial vascular symptoms (p = 0.05) than the patients without LVI. Glucocorticoids (GC) management did not differ between the two groups, but the GC discontinuation rate was lower in the patients with LVI (p = 0.0003). Repeated aortic imaging procedures were performed at 19 months [range: 5–162 months] and 17 months [range: 6–168 months] after diagnosis in 154 patients with LVI and 123 patients without LVI, respectively, of whom 21% and 7%, respectively, presented new aortic dilations (p = 0.0008). In the patients with LVI, aortic dilation occurred on an aorta segment shown to be inflammatory on previous imaging in 94% of patients. In the multivariate analysis, LVI was the strongest predictor of aortic dilation (hazard ratio: 3.16 [range: 1.34–7.48], p = 0.009).ConclusionsLVI represents a distinct disease pattern of GCA with an increased risk of aortic dilation. Control of the aortic morphology during follow-up is required.

Bicuspid aortic valve (BAV) patients have an increased incidence of developing aortic dilation. Despite its importance, the pathogenesis of aortopathy in BAV is still largely undetermined. Nowadays, intense focus falls both on BAV morphology and progression of valvular dysfunction and on the development of aortic dilation. However, less is known about the relationship between aortic valve morphology and aortic dilation. A better understanding of the molecular pathways involved in the homeostasis of the aortic wall, including the extracellular matrix, the plasticity of the vascular smooth cells, TGFβ signaling, and epigenetic dysregulation, is key to enlighten the mechanisms underpinning BAV-aortopathy development and progression. To date, there are two main theories on this subject, i.e., the genetic and the hemodynamic theory, with an ongoing debate over the pathogenesis of BAV-aortopathy. Furthermore, the lack of early detection biomarkers leads to challenges in the management of patients affected by BAV-aortopathy. Here, we critically review the current knowledge on the driving mechanisms of BAV-aortopathy together with the current clinical management and lack of available biomarkers allowing for early detection and better treatment optimization.

Aneurysm–osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm–osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.

Bicuspid aortic valve disease is a common congenital cardiac disorder, being present in 1% to 2% of the general population. Associated aortopathy is a common finding in patients with bicuspid aortic valve disease, with thoracic aortic dilation noted in approximately 40% of patients in referral centers. Several previous consensus statements and guidelines have addressed the management of bicuspid aortic valve–associated aortopathy, but none focused entirely on this disease process. The current document is an executive summary of “The American Association for Thoracic Surgery Guidelines on Bicuspid Aortic Valve–Related Aortopathy.” All major aspects of bicuspid aortic valve aortopathy, including natural history, phenotypic expression, histology and molecular pathomechanisms, imaging, indications for surgery, surveillance, and follow-up, and recommendations for future research are contained within these guidelines. The current executive summary serves as a condensed version of the guidelines to provide clinicians with a current and comprehensive review of bicuspid aortic valve aortopathy and to guide the daily management of these complex patients.

Tal Golesworthy was first diagnosed with Marfan syndrome as a 5-year-old at the ophthalmic department of his local NHS hospital in 1962. Like his father, he had characteristic subluxated lenses. As the years passed, apart from height, he thought nothing more of Marfan syndrome until, in 1992, he attended a genetic study at St. Georges Hospital in London. At this examination he was first made aware of his aortic dilation and informed that his aortic root was already at 4.4 cm and would need annual monitoring and probably surgical intervention at some point in the future. The psychological unease this caused was compounded year on year as his aorta steadily dilated. By 2000, when he was 43 years old, his aorta had reached 5.0 cm and he was forced, finally, to face his fear of a total root replacement by conceiving of a personalised external support. He once again went to St. Georges Hospital in March 2000, this time to an Information Day run by the Marfan Association, a patient support group, where Professor Tom Treasure was presenting on aortic root surgery. At the end of Tom’s presentation he raised his arm and asked why we were not imaging the aorta, making a Computer Aided Design (CAD) model of it, using this to manufacture a physical model, using Rapid Prototyping, and there from a bespoke external support that would contain and fit the patient’s aorta. Tom engaged immediately and began with Tal what has become the defining R&D project of his life.

Background: Bicuspid aortic valve (BAV) is the most common congenital heart disease, affecting 0.5%–2% of the general population. It is associated not only with notable valvular risk (aortic stenosis and/or regurgitation, endocarditis) but also with aortopathy with a wide spectrum of unpredictable clinical presentations, including aneurysmal dilation of the aortic root and/or ascending thoracic aorta, isthmic coarctation, aortic dissection, or wall rupture. Methods: The REgistro della Valvola Aortica Bicuspide della Societa Italiana di ECocardiografia e CArdiovascular Imaging is a retrospective (from January 1, 2010)/prospective, multicenter, observational registry, expected to enroll 3000 patients with definitive diagnosis of BAV made by transthoracic and/or transesophageal echocardiography, computed tomography, cardiovascular magnetic resonance, or at surgery. Inclusion criteria were definitive diagnosis of BAV. Patients will be enrolled regardless of the presence and severity of aortic valve dysfunction or aortic vessel disease and the coexistence of other congenital cardiovascular malformations. Exclusion criteria were uncertain BAV diagnosis, impossibility of obtaining informed consent, inability to carry out the follow-up. Anamnestic, demographic, clinical, and instrumental data collected both at first evaluation and during follow-up will be integrated into dedicated software. The aim is to derive a data set of unselected BAV patients with the main purpose of assessing the current clinical presentation, management, and outcomes of BAV. Conclusions: A multicenter registry covering a large population of BAV patients could have a profound impact on the understanding of the natural history of this disease and could influence its management.

Background: Cardiovascular disease is the leading cause of death in children with end-stage renal disease (ESRD). Isolated aortic dilation (AD) is rare in children. We aimed to determine the prevalence and the risk factors for AD in children with ESRD. Methods and study design: We reviewed records of all ESRD patients followed at our institution from January 2007 to October 2012. AD was defined as Z-score > 2 in the dimension of at least one of the following echocardiographic aortic parameters: annulus, root at the sinus, sino-tubular junction, ,or ascending aorta. Results: The records of 78 patients on dialysis and 19 kidney transplant recipients were available. 30 patients (30.9%) had AD. Multivariate analysis revealed independent associations of AD with body mass index (BMI) Z-score (OR = 0.52, 95% confidence interval (CI): 0.35 – 0.78) and ESRD secondary to glomerular disease (OR = 4.58, 95% CI: 1.45 – 14.46). We developed a classification and regression tree (CART) model to identify patients at low vs. high AD risk. Our model classified 62 patients of the cohort (64%) to be high- or low-risk, with a positive predictive value of 89% and a negative predictive value of 100%. Conclusion: Our data suggest that AD, as a possible marker of aortopathy and early aneurysm formation, is a novel and prevalent cardiovascular complication in ESRD children. Glomerular disease and low BMI Z-score appear to be potent predictors. CART modeling helps identify high-risk children, potentially guiding decisions regarding targeted echocardiographic evaluations.

The bicuspid aortic valve (BAV) is a major congenital valvular abnormality and is associated with a high prevalence of aortic dilation, whose expression depends on the type of leaflet fusion. Although BAV hemodynamics is considered a potential pathogenic contributor, the impact of BAV fusion on ascending aorta (AA) wall shear stress (WSS) remains largely unknown. A fluid-structure interaction approach was implemented to predict the hemodynamics and WSS characteristics in realistic AA models subjected to the flow of a normal tricuspid aortic valve (TAV) and three BAV morphotypes (left-right coronary cusp fusion (LR), right-non coronary cusp fusion (RN) and non-left coronary cusp fusion (NL)). TAV flow conditions subjected the proximal and middle AA to a streamlined flow typical of flows in bends, while BAV flow conditions generated increased flow helicity. The LR-BAV orifice jet generated flow abnormalities primarily in the proximal AA, which were marked by a uniform WSS overload along the wall circumference and contrasted WSS directionalities on the wall convexity and concavity. Flow abnormalities generated by the RN-BAV and NL-BAV inlet flow conditions were more diffuse and consisted of WSS overloads in the convexity of the proximal and middle AA and contrasted WSS directionalities in the anterior and posterior wall regions. This study demonstrates the impact of the BAV morphotype on AA hemodynamics and provides quantitative evidence for the existence of WSS abnormalities in aortic wall regions prone to dilation.