Dilatation Of Ascending Aorta Research Articles

COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.

COQ7 pathogenetic variants cause primary CoQ10 deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ10 supplementation. Here, we report novel compound heterozygous variants in the COQ7 gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a Bangladesh consanguineous family with two affected siblings. The main clinical findings were dysmorphisms, recurrent intestinal occlusions that required ileostomy, left ventricular non-compaction cardiomyopathy, ascending aorta dilation, arterial hypertension, renal dysfunction, diffuse skin desquamation, axial hypotonia, neurodevelopmental delay, and growth retardation. Exome sequencing revealed compound heterozygous rare variants in the COQ7 gene, c.613_617delGCCGGinsCAT (p.Ala205HisfsTer48) and c.403A>G (p.Met135Val). In silico analysis and functional in vitro studies confirmed the pathogenicity of the variants responsible for abolished activities of complexes I + III and II + III in muscle homogenate, severe decrease of CoQ10 levels, and reduced basal and maximal respiration in patients' fibroblasts. The first proband deceased at 14 months of age, whereas supplementation with a high dose of CoQ10 (30 mg/kg/day) since the first days of life modified the clinical course in the second child, showing a recovery of milestones acquirement at the last follow-up (18 months of age). Our study expands the clinical spectrum of primary CoQ10 deficiency due to COQ7 gene defects and highlights the essential role of multidisciplinary and combined approaches for a timely diagnosis.

Dependency between local carotid arterial stiffness and the presence of atherosclerotic plaque in the carotid basin in hypertensive patients with type 2 diabetes mellitus

Aim. To assess the impact of atherosclerotic plaque (ASP) on the local arterial stiffness of the common carotid arteries (CCA) in patients with stage II hypertension (HTN) in combination with type 2 diabetes mellitus (T2DM). Materials and methods. The study included 37 patients with stage II HTN and T2DM (mean age 60.4 ± 10.7; 66.7 % male). Patients were divided into two groups: 20 individuals with ASP and <50 % stenosis in the carotid basin, 17 without ASP. The study involved a clinical examination, body weight and percentage of adipose tissue (AT) measurements, analysis of lipid and carbohydrate metabolism laboratory parameters, echocardiography, CCA ultrasound examination with the determination of local stiffness and intima-media complex thickness (IMT). Statistical analysis was performed, significant differences were considered at p < 0.05. Results. The whole-body AT percentage <39.51 % increases the odds ratio (OR) of ASP by 6 times (p = 0.02), an exceeding compliance coefficient (CC) over 0.68 mm2/kPa – by 12.7 times (p = 0.02), right CCA-IMT of over 639 µm – by 1.012 times (p = 0.001), and the factors are mutually reinforcing in the multivariate models and independent of age, sex, body mass index, and glycated hemoglobin level. Ascending aorta dilatation of over 3.34 cm increases the OR of ASP by 11.6 times (p = 0.0107); the factor is enhanced after adjusting for elevated total cholesterol levels over >6.35 mmol/l (p = 0.036) and independent of age and sex. A greater left CCA diameter of more than 8.59 mm (p < 0.019) and right CCA diameter of more than 8.1 mm (p < 0.0001) increases the OR of ASP by 3.7 times (p = 0.001) and 6.6 times (p = 0.0013), respectively, the factor influence increases after adjusting for elevated total cholesterol levels over >6.35 mmol/l (p = 0.031) and it is also unaffected by age and sex. Conclusions. In individuals with stage II HTN and T2DM, the presence of CA atherosclerosis with stenosis up to 50 % is associated with a significantly increased CCA and ascending aorta diameter, a decreased percentage of AT, and an increased compliance coefficient of plaque-free wall segments.

Morphology, Clinical Associations, and Pathologic Follow-up of Quadricuspid Aortic Valves in Children.

While quadricuspid morphology is commonly observed in truncal valves, quadricuspid aortic valves (QAV) are rare and their natural history is not well described. This retrospective study of 37 patients describes the diagnostic associations and morphologic variability of QAVs in children (median age at diagnosis 4.3 y IQR 0-12 y). Associated congenital heart diseases were present in 54% (most commonly tetralogy of Fallot (TOF) and valvar pulmonary stenosis). Among patients with isolated QAV, 11 had genetic syndrome and 5 had skeletal anomalies. Valve morphology was most commonly type B (41%) and A (35%; Hurvitz and Roberts). Dilated aortic root (Z ≥ 2) was present in 5 and dilated ascending aorta in 9 patients at diagnosis. All patients with type C (n = 3) and G (n = 1) had aortic dilation. At diagnosis, >mild AR was rare (n = 1), mild regurgitation was common (n = 12, 32%), >mild AS was rare (n = 2), and mild AS was uncommon (n = 4). Over a median follow-up of 3.3y (IQR 0.9-11y), progression of AR was seen in 2 patients and progression of aortic root or ascending aorta dilation (increase in Z score by ≥ 2) was seen in 5 patients. In conclusion, QAV is a rare congenital anomaly and about half of the cases are found in hearts that are otherwise structurally normal. A relatively high prevalence is seen in patients with TOF, pulmonary stenosis, skeletal deformities, and genetic syndromes. Meticulous evaluation of aortic valve morphology should be conducted on echocardiograms performed for these indications.

Outcomes for patients undergoing transcatheter aortic valve replacement with ascending aorta dilation

BackgroundWe aim to compare the short and long-term outcomes for aortic stenosis (AS) patients undergone TAVR with and without ascending aorta dilation (AAD). MethodsConsecutive patients diagnosed with native severe AS who underwent TAVR from September 2012 to September 2021 were enrolled. They were stratified into the moderate/severe dilation group (greatest ascending aorta width ≥ 45 mm) and the non/mild dilation group. Survival outcomes were illustrated using Kaplan-Meier curves and evaluated with the log-rank test. Data from patients with CT follow-up of >6 months was used to investigate the progression rate of AAD. ResultsThe study cohort comprised 556 patients, with a mean age of 75.5 ± 7.3 years. Among them, 107 patients (19.2%) had a moderate/severe AAD (≥45 mm), with an average diameter of 48.6 mm (±2.8). During hospitalization, both groups witnessed two cases of ascending aortic dissection (1.9% vs 0.4%, P = 0.380). The median follow-up duration was 3.9 years (95% CI: 3.8–4.0 years). No deaths were caused by aortic events and no patients experienced a new aortic dissection. The AAD cohort's 4-year all-cause and cardiovascular mortality rates were not significantly different to the non/mild dilation group's (log-rank test, P = 0.109 and P = 0.698, respectively). Follow-up CT data revealed that the rate of aortic dilation progression in the moderate/severe dilation group was not significantly different from that in the non/mild group (0.0 mm/year, 25–75%th: −0.3-0.2 vs 0.1 mm/year, 25–75%th: -0.3-0.4, P = 0.122). ConclusionThis study found no significant difference regarding short-term and long-term outcomes in AS patients with/without moderate/severe AAD undergoing TAVR.

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

AimTo 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)]. MethodsPrevalence 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. ResultsOverall, 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). ConclusionsPatients 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.

Type A Aortic Dissection: A Call for Vigilance in Chest Pain Diagnosis

Introduction: Acute aortic dissection (AD) is a rare and life-threatening condition associated with high mortality rates in the absence of prompt intervention. This article provides an in-depth examination of the clinical presentation, diagnostic approach, and management of Stanford type A AD in a 62-year-old hypertensive female patient with atypical symptoms.&#x0D; Case Report: The patient presented with retrosternal chest pain and rapidly worsening dyspnea, demonstrating a 3/6 diastolic murmur over the aortic area. Diagnostic findings included negative T-waves on ECG, significant mediastinal widening on chest X-ray, and transthoracic echocardiography revealing an intimal flap, ascending aorta dilation, and acute aortic insufficiency. Computed tomography confirmed a Stanford type A aortic dissection.&#x0D; Discussion: Acute AD poses a diagnostic challenge, as atypical presentations can lead to misdiagnoses. The case emphasizes the importance of considering AD in the differential diagnosis of chest pain and conducting thorough investigations, especially when faced with unusual symptoms. Management strategies, encompassing both pharmacological and surgical interventions, are crucial for addressing AD promptly.&#x0D; Conclusion: This case underscores the significance of recognizing both typical and atypical presentations of AD to ensure timely intervention and avoid potentially catastrophic outcomes. A comprehensive understanding of diagnostic approaches and management protocols is essential in the emergency setting. Overall, this article contributes to the growing body of knowledge surrounding acute aortic dissection and emphasizes the critical need for awareness and rapid intervention in clinical practice.

A rare congenital anomaly: unicuspid unicommissural aortic valve associated with stenosis and ascending aorta dilatation

A rare congenital anomaly: unicuspid unicommissural aortic valve associated with stenosis and ascending aorta dilatation

Aortic arch shape after arch repair predicts exercise capacity: a multicentre analysis.

Coarctation of the aorta is associated with long-term morbidity including decreased exercise capacity, despite successful repair. In the absence of discrete recoarctation, the haemodynamic mechanism remains unknown. This multicentre study evaluated the relationship between aorta shape, flow, and exercise capacity in patients after arch repair, specifically through the lens of aortic size mismatch and descending aortic (DAo) flow and their association with exercise. Cardiac magnetic resonance, cardiopulmonary exercise test, and echocardiogram data within 1 year were analysed from 58 patients (age 28 ± 10 years, 48% male) across four centres with history of isolated arch repair. Aortic arch measurements were correlated with % predicted VO2max with subgroup analyses of those with residual arch obstruction, bicuspid aortic valve, and hypertension. Ascending aorta (AAo) to DAo diameter ratio (DAAo/DDAo) was negatively correlated with % predicted VO2max. %DAo flow positively correlated with VO2max. Sub-analyses demonstrated that the negative correlation of DAAo/DDAo with VO2max was maintained only in patients without arch obstruction and with a bicuspid aortic valve. Smaller aortic arch measurements were associated with both hypertension and exercise-induced hypertension. Aorta size mismatch, due to AAo dilation or small DAo, and associated decreased %DAo flow, correlated significantly with decreased exercise capacity after aortic arch repair. These correlations were stronger in patients without arch obstruction and with a bicuspid aortic valve. Aorta size mismatch and %DAo flow capture multiple mechanisms of altered haemodynamics beyond blood pressure gradient or discrete obstruction and can inform the definition of a successful repair.

Transcatheter aortic valve replacement in patients with preoperative ascending aortic diameter ≥45 mm.

Current indication for concomitant replacement of ascending aorta (AA) in patients undergoing surgical aortic valve replacement is that AA diameter exceeds 45 mm. However, the impact of AA dilation (≥45 mm) in patients undergoing transcatheter aortic valve replacement (TAVR) remains unclear. We retrospectively evaluated 467 consecutive patients who underwent transfemoral TAVR from January 2016 to April 2021. Cox proportional hazards regression was performed to identify risk factors for all-cause mortality. The primary endpoint was the all-cause mortality, and the secondary endpoints were the occurrence of the aortic dissection and/or rupture. One hundred patients (21.4%) presented preoperative AA ≥45 mm. The median age was 73 years for patients with AA ≥45 mm and 75 years for patients with AA <45 mm (P=0.021). The in-hospital mortality rate was 1.1%. There was no iatrogenic injury to the AA. Only one patient (0.2%) in AA <45 mm group experienced retrograde type B aortic dissection in the descending aorta. The median follow-up was 19 [16-34] months in patients with AA ≥45 mm and 27 [15-37] months in patients with AA <45 mm (P=0.152). No statistical difference was found between the two groups regarding the overall survival (92.5%±3.5% vs. 78.3%±6.8%, P=0.198). Only one patient in AA <45 mm group experienced type A aortic dissection 10 months after the procedure. In both univariable and multivariable analysis, AA ≥45 mm was not an independent predictor for all-cause mortality. Transfemoral TAVR can be performed safely in patients with preoperative AA ≥45 mm with a low intraprocedural risk. The mid-term survival appears not to be affected by the presence of AA ≥45 mm, and adverse aortic events are rare.

Effect of transcatheter aortic valve replacement on ascending aorta dilatation rate in patients with tricuspid and bicuspid aortic stenosis

ObjectivesThe 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. MethodsThe 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. ResultsThere 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. ConclusionsCompared 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.

Biomechanical properties of the ascending aorta in patients with arterial hypertension by velocity vector imaging.

Aortic stiffness is an important risk factor for cardiovascular events and morbidity. Increased aortic stiffness is associated with an increase in cardiac and vascular hypertension-related organ damage.To evaluate the biomechanical properties of the ascending aorta (AA) in patients with arterial hypertension (AH) by velocity vector imaging (VVI).Ninety-five patients with AH and 53 normal healthy control participants were prospectively enrolled. AA biomechanical properties, i.e., ascending aortic global longitudinal strain (ALS), ascending aortic global circumferential strain (ACS), and fractional area change (FAC), were evaluated by VVI. Relative wall thickness (RWT) and left ventricular mass (LVM) were calculated. Pulsed Doppler early transmitral peak flow velocity (E), early diastolic mitral annular velocity (e'), left ventricular global longitudinal strain (GLS), distensibility (D) and stiffness index (SI) of AA were also obtained.The ALS, ACS and FAC were significantly lower in the AH patients, especially in those with ascending aorta dilatation (AAD), than in the normal healthy control subjects. The patients with AAD had a higher E/e' ratio, RWT, LVM and SI and a lower GLS and D than patients without AAD and normal healthy volunteers (p < 0.05). There were significant associations between biomechanical properties and D, SI, E/e' and GLS (ALS and D: r = 0.606, ALS and SI: r = - 0.645, ALS and E/e': r = - 0.489, ALS and GLS: r = 0.466, ACS and D: r = 0.564, ACS and SI: r = - 0.567, ACS and E/e': r = - 0.313, ACS and GLS: r = 0.320, FAC and D: r = 0.649, FAC and SI: r = - 0.601, FAC and E/e': r = - 0.504, FAC and GLS: r = 0.524, respectively, p < 0.05).The biomechanical properties of AA were impaired in patients with AH, especially patients with ascending aorta dilatation. Hypertension is associated with a high prevalence of diastolic and systolic dysfunction and increased arterial stiffness. Further study is needed to evaluate the clinical application of AA biomechanical properties by VVI.

Ascending aortic length associates to acute aortic dissection

Abstract Background Acute Stanford type A aortic dissection is a life-threatening condition that is challenging to predict and prevent. The risk for aortic dissection is known to increase with ascending aortic (AA) dilatation, which sets indication for preventive aortic replacement. Anyhow, most of the dissections occur before aortic diameter reaches the diameter indications of preventive surgery. Purpose To investigate whether, alongside with aortic dilatation, AA elongation affects the increased risk for aortic dissection. Methods This retrospective study included patients treated for Stanford type A aortic dissection (n=102), patients with AA dilatation (max. diameter &amp;gt; 40 mm) (n=134) and healthy controls (n=191). AA length and dimensions were measured from aortic computed tomography angiography (CTA) images. The AA length was defined as a distance between the aortic annulus to the origin of the brachiocephalic trunk. Results AA length was significantly increased in patients with aortic dissection when compared to patients with AA dilatation and to healthy controls (106.2 ± 15.1 mm vs. 96.8 ± 11.2 mm vs. 82.5 ± 8.1 mm; p&amp;lt;0.001). After adjusting AA length to patient's height, BSA, sex and maximal diameter, adjusted length of AA was 99.8 mm in the dissection group, 94.4 mm in the AA dilatation group and 86.0 mm in healthy controls. Thus, when comparing adjusted AA length between the groups, dissected aortas were 13.8 mm longer than in healthy controls and 5.4 mm longer than in dilated non-dissected aortas (p&amp;lt;0.001). Dilated non-dissected aortas were 8.4 mm longer than in healthy controls (p&amp;lt;0.001). In the dissection cohort, 25/102 (24.5%) patients had maximal AA diameter &amp;lt;55 mm and 16/102 (12.7%) patients had maximal AA diameter ≥55 mm alongside with AA length &amp;gt; 110 mm (Table). By combining 110 mm AA length and &amp;lt;55 mm diameter, 58% of the dissection patients would have been identified instead of using only AA diameter ≥55 mm as a cut-off criteria, based on which only 33% patients met the indication for elective surgery. Conclusions To conclude, AA length seems to be a strong predictor of risk of type A aortic dissection and thus might be used as an additional tool in identifying patients for preventive surgery.Cut off - limits

Analysis of Prevalence and Clinical Features of Aortic Stenosis in Patients with and without Bicuspid Aortic Valve Using Machine Learning Methods.

Aortic stenosis (AS) is the most commonly diagnosed valvular heart disease, and its prevalence increases with the aging of the general population. However, AS is often diagnosed at a severe stage, necessitating surgical treatment, due to its long asymptomatic period. The objective of this study was to analyze the frequency of AS in a population of cardiovascular patients using echocardiography (ECHO) and to identify clinical factors and features associated with these patient groups. We utilized machine learning methods to analyze 84,851 echocardiograms performed between 2010 and 2018 at the National Medical Research Center named after V.A. Almazov. The primary indications for ECHO were coronary artery disease (CAD) and hypertension (HP), accounting for 33.5% and 14.2% of the cases, respectively. The frequency of AS was found to be 13.26% among the patients (n = 11,252). Within our study, 1544 patients had a bicuspid aortic valve (BAV), while 83,316 patients had a tricuspid aortic valve (TAV). BAV patients were observed to be younger compared to TAV patients. AS was more prevalent in the BAV group (59%) compared to the TAV group (12%), with a p-value of <0.0001. By employing a machine learning algorithm, we randomly identified significant features present in AS patients, including age, hypertension (HP), aortic regurgitation (AR), ascending aortic dilatation (AscAD), and BAV. These findings could serve as additional indications for earlier observation and more frequent ECHO in specific patient groups for the earlier detection of developing AS.

Machine learning in assessing the association between the size and structure of the ascending aortic wall in patients with aortic dilatation of varying severity

Aim. To assess the association between pathological ascending aortic (AA) wall changes and its planimetric characteristics in non-syndromic non-familial (sporadic) aneurysm and dilation of the AA.Material and methods. The study included 174 patients with sporadic aneurysms and dilation of the AA, who underwent elective surgery between January 2010 and July 2015 and were divided into 2 groups: patients with AA aneurysm (AAA) (AA diameter &gt;50 mm) and tricuspid aortic valve (AV) with significant aortic stenosis (AS) or regurgitation (AR) (AAA group, n=120), and persons with borderline AA dilatation (AA diameter 45-50 mm), associated with a bicuspid aortic valve (BAV) and significant AS (BD group, n=54). Standard paraclinical investigations and pathological examination of the VA wall were used. Statistical processing was carried out in the SPYDER 4.1.5 environment (Python 3.8), and included univariate correlation analysis, logistic regression analysis, as well as supervised machine learning (ML) methods (support vector machine, k-nearest neighbor method, random forest).Results. Logistic regression revealed positive associations between AA atherosclerosis and age, cystic medial necrosis (CMN) and sinus of Valsalva (SV) diameters. The support vector machine method demonstrated a tendency towards AA expansion at the SV level in individuals with CMN (accuracy, 60,5%), as well as towards expansion of the tubular AA in atherosclerosis (accuracy, 79,2%). During the random forest analysis, the first stage was to construct decision trees to predict three following outcomes: the presence of CMN, atherosclerosis, or normal aortic structure. The model accuracy was 64,2%. Next, the variables "CMN" and "atherosclerosis" were combined, and prediction was made for the outcomes "normal AA wall structure" and "pathological AA wall structure". The model accuracy was 73,5%.Conclusion. The use of ML opens up new opportunities for predicting aortopathy and a patient-centered approach to treatment. In AR, a more aggressive AA intervention is warranted. To predict aortopathies, thoracic aorta diameters indexed to body surface area should not be used. Aortic wall sampling (circular section) followed by a continuous pathological examination may be promising.

Prevalence and determinants of dilated ascending aorta in a Swedish population: a case-control study.

Dilation of the ascending aorta (AA) is often asymptomatic until a life-threatening dissection or rupture occurs. An overall increase in the use of thoracic imaging has enabled early and sometimes incidental identification of AA dilation. Still, the prevalence and determinants of AA dilation remain to be clarified. The aim was to identify and characterize persons with AA dilation in a middle-aged Swedish population. We used the Swedish CardioPulmonary BioImage Study Linköping (n = 5058, age 50-65 years) to identify cases with AA diameter ≥ 40 mm on coronary computed tomography angiography (CCTA) or chest computed tomography. Age- and gender-matched individuals with AA diameter < 40 mm served as controls. Echocardiography, blood pressure (BP) measurements (office and home), pulse wave velocity (PWV), coronary artery calcification (CAC), CCTA-detected coronary atherosclerosis, and carotid ultrasound were used to characterize these subjects. We identified 70 cases (mean AA diameter 44 mm, 77% men) and matched these to 146 controls (mean AA diameter 34 mm). Bicuspid aortic valve and aortic valve dysfunction were more common in cases than in controls (8% vs. 0% and 39% vs. 11%, respectively). Both office and home BP levels were significantly higher among cases. Also, high PWV (>10 m/s) levels were more common in cases (33% vs. 17%). Neither CAC scores nor prevalence or burden of atherosclerosis in coronary and carotid arteries differed between groups. The prevalence of dilated AA was 1.4% and showed positive associations with male gender, aortic valve pathology, and diastolic BP, though not with subclinical atherosclerosis.

Ascending aorta dilatation is associated to hard cardiovascular events, follow-up from multicentric ARGO-Perspective project.

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).

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.

PACS1 neurodevelopmental disorder (PACS1-NDD) (MIM# 615009) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. Heart disease (HD) is frequently present in individuals with PACS1-NDD, but a compressive review of these anomalies and an evaluation of cardiac function in a cohort of patients are lacking. (i) Cardiac evaluation in 11 PACS1-NDD patients was conducted using conventional echocardiography. (ii) Heart function was assessed by tissue Doppler imaging, and two-dimensional speckle tracking was performed in seven patients and matched controls. (iii) This systematic review focused on determining HD prevalence in individuals with PACS1-NDD. In our cohort, 7 of 11 patients presented HD. (Among them, three cases of ascending aortic dilatation (AAD) were detected and one mitral valve prolapse (MVP).) None of the patients showed echocardiographic pathological values, and the left global longitudinal strain was not significantly different between patients and controls (patients -24.26 ± 5.89% vs. controls -20.19 ± 1.75%, p = 0.3176). In the literature review, almost 42% (42/100) of individuals with PACS1-NDD reportedly experienced HD. Septal defects were the most common malformation, followed by patent ductus arteriosus. Our results show a high prevalence of HD in PACS1-NDD patients; in this way, AAD and MVP are reported for the first time in this syndrome. Furthermore, a detailed cardiac function evaluation in our cohort did not reveal evidence of cardiac dysfunction in individuals with PACS1-NDD. Cardiology evaluation should be included for all individuals with Schuurs-Hoeijmakers syndrome.

The relationship between ascending aortic diameter with left atrial functions and left ventricular mass index in a population with normal left ventricular systolic function.

Ascending aortic dilatation is a common clinical issue. In the present study, we aimed to evaluate the relationship between ascending aortic diameter with left ventricular (LV) and left atrial (LA) functions, and LV mass index (LVMI) in a population with normal LV systolic function. A total of 127 healthy participants with normal LV systolic function took part in the study. Echocardiographic measurements were obtained from each subject. The mean age of the participants was 43±14.1 years and 76 (59.8%) were female. The mean aortic diameter of the participants was 32.2±4.7mm. A negative correlation was found between aortic diameter and LV systolic function (LVEF r=-.516, p<.001; Gls r=-.370). In addition, there was a strong positive correlation between aortic diameter with LV wall thicknesses, LVMI (r=.745, p<.001), and systolic and diastolic diameters. The relationship between aortic diameter and diastolic parameters was evaluated, a negative correlation with Mitral E, Em, E/A ratio, and a positive correlation with MPI, Mitral A, Am, E/Em ratio were found. A strong correlation between ascending aortic diameter with LV and LA functions, and LVMI in individuals with normal LV systolic function.

Prevalence and clinical correlates of ascending aortic dilatation in patients with noncompaction cardiomyopathy

Ascending aortic (AoAsc) dilatation can lead to acute aortic syndromes and has been described in various familial cardiac diseases. Its prevalence and clinical significance in patients with noncompaction cardiomyopathy (NCCM) are however unknown. Establishing the prevalence can facilitate recommendations on routine screening in NCCM. In this cross-sectional cohort study based on the Rijnmond Heart Failure/Cardiomyopathy Registry, the patient were enrolment between 2014 and 2021. All NCCM patients (n = 109) were age and sex matched with 109 dilated cardiomyopathy (DCM) patients as controls. The aortic diameters were measured through the parasternal long-axis transthoracic echocardiographic view at the sinuses of valsalva (SoV-Ao), sinotubular junction (STJ) and ascending aorta (AscAo). Dilatation was defined using published criteria adjusted for body surface area (BSA), sex, and age. Median age of age-sex matched NCCM and DCM patients was 45[31–56] vs. 45 [31–55] years with 53% males in both groups. NCCM patients had more familial hereditary patterns and genetic variants (55% vs. 24%, p < 0.001). DCM patients had more heart failure and left ventricular dysfunction (ejection fraction 34 ± 11 vs. 41 ± 12, p = 0.001). Ascending aortic dilatation was present in 8(7%) patients with NCCM and 5(5%) patients with DCM (p = 0.46). All dilatations were classified as mild. In conclusion, in this cross-sectional cohort study the prevalence of ascending aortic dilatation in NCCM patients was 7%, which were only mild dilatations and not significantly different from an age-sex matched cohort of DCM patients. Routine aortic dilatation screening therefore does not seem warranted in patients with NCCM.

Aortic Dilatation in Pediatric Patients with Bicuspid Aortic Valve: How the Choice of Nomograms May Change Prevalence

Aortic dilation (AoD) is commonly reported in patients with bicuspid aortic valve (BAV) and has been related to flow abnormalities and genetic predisposition. AoD-related complications are reported to be extremely rare in children. Conversely, an overestimate of AoD related to body size may lead to excess diagnoses and negatively impact quality of life and an active lifestyle. In the present study, we compared the diagnosis performance of the newly introduced Q-score (based on a machine-learning algorithm) versus the traditional Z-score in a large consecutive pediatric cohort with BAV. Prevalence and progression of AoD were evaluated in 281 pediatric patients ages > 5 and < 18 years at first observation, 249 of whom had isolated BAV and 32 had BAV associated with aortic coarctation (CoA-BAV). An additional group of 24 pediatric patients with isolated CoA was considered. Measurements were made at the level of the aortic annulus, Valsalva sinuses, sinotubular aorta, and proximal ascending aorta. Both Z-scores using traditional nomograms and the new Q-score were calculated at baseline and at followup (mean 4.5 years). A dilation of the proximal ascending aorta was suggested by traditional nomograms (Z-score > 2) in 31.2% of patients with isolated BAV and 18.5% with CoA-BAV at baseline and in 40.7% and 33.3%, respectively, at followup. No significant dilation was found in patients with isolated CoA. Using the new Q-score calculator, ascending aorta dilation was detected in 15.4% of patients with BAV and 18.5% with CoA-BAV at baseline and in 15.8% and 3.7%, respectively, at followup. AoD was significantly related to the presence and degree of aortic stenosis (AS) but not to aortic regurgitation (AR). No AoD-related complications occurred during the followup. Our data confirm the presence of ascending aorta dilation in a consistent subgroup of pediatric patients with isolated BAV, with progression during followup, while AoD was less common when CoA was associated with BAV. A positive correlation was found with the prevalence and degree of AS, but not with AR. Finally, the nomograms used may significantly influence the prevalence of AoD, especially in children, with a possible overestimation by traditional nomograms. This concept requires prospective validation in long-term followup.