Search

Background Right ventricular volume overload is the key finding in a patient with previously undiagnosed atrial septal defect (ASD). Case summary A 68-year-old female was referred to our hospital due to progressive pulmonary artery dilatation observed on her chest X-ray. Echocardiography revealed a secundum ASD with right ventricular dilatation. She had undergone aortic root replacement and aortic valve replacement for annuloaortic ectasia and aortic insufficiency 12 years prior to the diagnosis. She was also diagnosed with Marfan syndrome, which was supported by family histories. Computed tomography did not show a secundum ASD before the surgery. We finally closed the secundum ASD with catheter closure device. Discussion Ascending aneurysm might mask the presence of secundum ASD. Monitoring the change in pulmonary artery dilatation overtime is useful for the diagnosing secundum ASD. [ABSTRACT FROM AUTHOR]

Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted that included articles from the inception of these databases to April 2023. Valvular disease, heart failure, atrial fibrillation, and hypertension appear to be more prevalent in OI than in control individuals. Moreover, a larger aortic root was observed in OI compared to controls. Various cardiovascular diseases appear to be more prevalent in OI than in controls. These cardiovascular abnormalities are observed in all types of OI and at all ages, including young children. As there are insufficient longitudinal studies, it is unknown whether these abnormalities are progressive in nature in OI patients. Based on these findings, we would recommend referring individuals with OI to a cardiologist with a low-threshold. [ABSTRACT FROM AUTHOR]

Subclinical alterations in cardiac structure and function include a variety of abnormal phenotypes of established adverse prognostic significance such as left ventricular hypertrophy (LVH), alterations of LV geometry, left atrial (LA) enlargement, and aortic root (AR) dilatation. The excess cardiovascular (CV) risk associated with these phenotypes has been consistently demonstrated in different clinical settings such in patients with systemic hypertension, coronary heart disease, diabetes mellitus, chronic kidney disease, heart failure and in geneal population samples. The Pressioni Monitorate e Loro Associazioni (PAMELA), a longitudinal population-based study originally designed to assess the normality values, prognostic significance of office, home and 24-hour blood pressure, including among the many clinical and laboratory variables the collection of echocardiographic data, allowed to gather important information on the clinical prognostic significance of subclinical cardiac damage during a long follow-up period. This article summarizes the original findings provided by the PAMELA study on the clinical correlates and prognostic significance of echocardiographic markers of subclinical organa damage namely LVH, left atrial enlargement (LA) and AR dilatation at the community level. [ABSTRACT FROM AUTHOR]

Background: Aortic size tends to increase with aging but the extent of this dynamic process has not been evaluated in long-term longitudinal population-based studies. We investigated the incidence of new-onset aortic root (AR) dilatation and its principal correlates among middle-aged adults over a 25-year time period. Methods: A total of 471 participants with measurable echocardiographic parameters at baseline and after a 25-year follow-up were included in the analysis. Sex-specific upper limits of normality for absolute AR diameter, AR diameter indexed to body surface area (BSA) and to height were derived from healthy normotensive PAMELA participants. Results: New AR dilatation occurred in 7.4% (AR/BSA), 9.1% (AR/height) and 14.6% (absolute AR), respectively. According to the AR/height index, the risk of new dilation was similar in men and women. As for echocardiographic parameters, baseline AR diameter emerged as a key predictor of AR dilation, regardless of the diagnostic criteria and the 10-year change in LVMI was positively associated to new AR/height dilatation. No significant relationship was observed between baseline office and ambulatory systolic/diastolic blood pressure or their changes over time with incident AR dilatation. Baseline and the 25-year change in 24-h pulse pressure were negatively related to new AR dilatation. Conclusions: The incidence of AR dilatation from mid to late adulthood occurs in a small but clinically relevant fraction of participants and is unaffected by both office and out-office BP. It is significant related to baseline AR diameter and to the 25-year change in LVMI. Our data suggest that echocardiography performed in middle-aged individuals of both sexes may identify those at increased risk of future AR dilatation; moreover, preventing LVH may reduce the risk of progressive AR enlargement. [ABSTRACT FROM AUTHOR]

Background Marfan’s syndrome (MFS) is an autosomal dominant hereditary connective tissue disorder associated with numerous skeletal, ocular, cardiovascular, and respiratory pathologies which advance with age. Following multiple system involvement of body, the clinical presentation and management of MFS with associated pathologies are an area of cautious focus. Therefore, this review focused on highlighting various management options that are currently being supported for the MFS patients. Methodology The search methodology involved randomized controlled trials (RCTs) published between 2018 to 2022 from PubMed and Google Scholar databases. Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) were followed for reviewing the data extracted following the inclusion and exclusion criteria using the keywords “Marfan’s Syndrome”, “Irbesartan”, “Aortic Dilatation”, “Atenolol”, and “Lens Subluxation.” Results A total of eight articles were reviewed for the preferred distribution of population and the management options followed in the studies consisting of medical, psychological, and surgical interventions. Also, the associated pathologies related to MFS patients were analysed and found to have significant impact on health-related quality of life of MFS patients. Conclusions The review concluded that a combination of drugs atenolol, a β-blocker, and losartan which is an angiotensin receptor blocker, is beneficial in case of aortic root dilatation and higher aortic root stiffness. Additionally, ADRB1 testing may determine patients that are more likely to respond therapeutically to atenolol in comparison to losartan. Cionni modified capsular tension rings (MCTR) have been acknowledged as an effective device for delivering good capsular bag stabilization in cases of lens subluxation in MFS patients.

Early-onset Marfan syndrome (eoMFS) progresses rapidly, starting during the neonatal period, causes severe clinical disease, and has a poor prognosis. The genetic abnormality associated with eoMFS is located in a so-called critical neonatal region in exons 25–26 of the fibrillin-1 (FBN1) gene. A female neonate was delivered by emergency cesarean section at 37 weeks gestation due to fetal distress with bradycardia, cyanosis, and no spontaneous breathing. On examination, the patient had multiple musculoskeletal deformities, including loose redundant skin, arachnodactyly, flat soles, and joint contractures. Echocardiography showed poor cardiac contractility with multiple valvular abnormalities. She died 13 h after birth. We identified a novel missense variant c.3218A>G (p.Glu1073Gly) in exon 26 of the FBN1 gene by targeted next-generation sequencing. A literature review revealed that arachnodactyly and aortic root dilatation in the fetus are predictive of eoMFS. However, the predictive potential of ultrasonography alone is limited. Genetic testing of the FBN1 gene restriction region associated with short life expectancy and characteristic fetal ultrasound findings could be important for prenatal diagnosis of eoMFS, postnatal management, and parental preparedness. We identified a novel missense mutation located in exons 25–26 of the Fibrillin-1 gene in a neonate with early-onset Marfan syndrome (eoMFS) who died of severe early heart failure shortly after birth. This mutation was located in a narrowly defined critical neonatal region, recently reported to cause eoMFS, and its clinical profile was consistent with early-onset severe heart failure. In addition to ultrasonography, genetic analysis of this region is important for predicting prognosis in eoMFS. [ABSTRACT FROM AUTHOR]

Cardiovascular system involvements have been frequently reported in hypermobile Ehlers‐Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies have found conflicting results regarding the significance of cardiac involvement in hEDS patients. We conducted a retrospective review of cardiac involvement in patients diagnosed with hEDS based on the 2017 International diagnostic criteria to provide further evidence toward more defined and reliable diagnostic criteria and recommended cardiac surveillance. A total of 75 hEDS patients with at least one diagnostic cardiac evaluation were included in the study. The most common reported cardiovascular complaints were lightheadedness (80.6%), followed by palpitations (77.6%), fainting (44.8%), and chest pain (32.8%). Of the 62 echocardiogram reports, 57 (91.9%) showed trace/trivial to mild valvular insufficiency, and 13 (21%) had additional abnormalities such as grade I diastolic dysfunction, mild aortic sclerosis, and trivial or small pericardial effusion. Of the 60 electrocardiograms (ECG) reports, 39 (65%) were normal, and 21 (35%) reported minor abnormalities or normal variants. Even though many hEDS patients in our cohort experienced cardiac symptoms, the presence of a significant cardiac abnormality was very low. [ABSTRACT FROM AUTHOR]

TMEM70 deficiency causing mitochondrial complex V deficiency, nuclear type 2 (MIM: 614052) is the most common nuclear encoded defect affecting ATP synthase and has been well described in the literature as being characterized by neonatal or infantile onset of poor feeding, hypotonia, lethargy, respiratory compromise, heart failure, lactic acidosis, hyperammonemia, and 3‐methylglutaconic aciduria progressing to a phenotype of developmental delay, failure to thrive, short stature, nonprogressive cardiomyopathy, microcephaly, facial dysmorphisms, hypospadias, persistent pulmonary hypertension of the newborn, and Wolff–Parkinson–White syndrome, as well as metabolic crises followed by developmental regression. The patient with TMEM70 deficiency herein reported has the unique presentation of aortic root dilatation, differing facial dysmorphisms, and no history of neonatal metabolic decompensation or developmental delay, as well as a plasma metabolomics signature, including elevated 3‐methylglutaconic acid, 3‐methylglutarylcarnitine, alanine, and lactate, in addition to the commonly described increased 3‐methylglutaconic acid on urine organic acid analysis that helped aid in the diagnostic interpretation of variants of uncertain significance in TMEM70. [ABSTRACT FROM AUTHOR]

Introduction: Linkeropathies are a group of rare multi-systemic genetic disorders primarily affecting the skeletal and cardiac systems due to defects in the enzymes responsible for proteoglycan synthesis., Case Presentation: We present a case of two siblings with the B3GAT3 variant. The 14-year-old boy exhibited short stature, severe kyphoscoliosis, splenomegaly, and aortic root dilatation, along with several physical abnormalities including bifid uvula, blue sclera, limited elbow extension, and pectus carinatum. His 6-year-old sister also exhibited comparable yet less pronounced physical features. Clinical exome sequencing analysis revealed a homozygous c.416C>T variant in the B3GAT3 gene for the sister; the same variant was also present in the boy patient. The boy underwent preoperative halo-gravity traction for severe kyphoscoliosis, followed by posterior instrumentation and fusion surgery without complications., Discussion/conclusion: B3GAT3-related linkeropathy syndrome is a rare disorder and we further expand the clinical spectrum with novel findings., Competing Interests: The authors declare no conflict of interest., (© 2024 S. Karger AG, Basel.)

For patients with aortic root dilatation and a structurally normal aortic valve (AV) undergoing composite aortic valve-graft (Bentall-De Bono) versus valve-sparing aortic root replacement (VSARR) procedures there are conflicting data regarding early and long-term benefits. We undertook a study-level meta-analysis to compare the results of both procedures. Three databases were assessed, and both randomized trials and observational studies were considered eligible. Kaplan-Meier curves of long-term survival and reoperation risk were reconstructed and compared with Cox linear regression and incidence rate ratios (IRR) with 95 % confidence intervals (CI). Landmark analysis and time-varying hazard ratio (HR) were analyzed. Odds ratios (OR) were calculated for early mortality, postoperative stroke, and re-exploration for postoperative bleeding. A random effects model was used. Sensitivity analyses included leave-one-out-analysis, meta-regression and subgroups analysis. 1456 articles were identified, including 39 observational studies, totaling 14,651 patients (Bentall-De Bono = 9557 and VSARR = 5094). Twelve studies were adjusted. The mean weighted follow-up was 5.05 ± 3.7 years. VSARR was associated with significantly greater survival (HR = 0.50; 95 % CI, 0.45–0.57; p < 0.0001) at 15-year follow-up. The reoperation risk was higher following VSARR (HR = 1.30; 95 % CI, 1.03–1.63; p = 0.02.), although time-varying HR model and landmark analysis reported an increased risk of reoperation within 5 years after VSARR (HR = 1.57; 95 % CI, 1.23–2.01; p < 0.001), after which the difference disappeared. Subgroups analysis of studies excluding aortic dissection showed a comparable rate of late reoperation. VSARR is associated with improved long-term survival compared to Bentall-De Bono. The risk of late reoperation is higher within 5 years following VSARR, after which the two procedures are comparable. The graphical abstract displays the condensed results of the study. In particular, the Kaplan-Meier curves show a longer-term survival (15-year follow-up) of VSARR compared to Bentall-De Bono. Hazard ratio (HR) trend over time shows a reduced hazard of reoperation after Bentall-De Bono within 5 years, after which the difference disappeared. VSARR, valve-sparing aortic root replacement; HR, hazard ratio; IRR, incidence rate ratio; CI, confidence interval. [Display omitted] • VSARR is associated with a significant 15-year higher survival probability compared with Bentall-DeBono. • Reoperation rate is higher after VSARR within 5-year, after which the two procedures are comparable. • Reoperation rate is comparable in subgroup analysis excluding cases of acute aortic dissection. [ABSTRACT FROM AUTHOR]

Abstract Background Cardiovascular magnetic resonance (CMR) is considered the method of choice for evaluation of aortic root dilatation in congenital heart disease. Usually, a cross-sectional 2D cine stack is acquired perpendicular to the vessel’s axis. However, this method requires a considerable patient collaboration and precise planning of image planes. The present study compares a recently introduced 3D self-navigated free-breathing high-resolution whole heart CMR sequence (3D self nav) allowing a multiplanar retrospective reconstruction of the aortic root as an alternative to the 2D cine technique for determination of aortic root diameters. Methods A total of 6 cusp-commissure (CuCo) and cusp-cusp (CuCu) enddiastolic diameters were measured by two observers on 2D cine and 3D self nav cross-sectional planes of the aortic root acquired on a 1.5 T CMR scanner. Asymmetry of the aortic root was evaluated by the ratio of the minimal to the maximum 3D self nav CuCu diameter. CuCu diameters were compared to standard transthoracic echocardiographic (TTE) aortic root diameters. Results Sixty-five exams in 58 patients (32 ± 15 years) were included. Typically, 2D cine and 3D self nav spatial resolution was 1.1–1.52 × 4.5-7 mm and 0.9–1.153 mm, respectively. 3D self nav yielded larger maximum diameters than 2D cine: CuCo 37.2 ± 6.4 vs. 36.2 ± 7.0 mm (p = 0.006), CuCu 39.7 ± 6.3 vs. 38.5 ± 6.5 mm (p

Background: Currently there are no data regarding medical therapy of aortic dilatation in pediatric patients with normally functioning bicuspid aortic valve (BAV). Aim of the study was to describe the rates of change of aortic root diameters in untreated pediatric patients with normally functioning BAV and in patients with documented progressive dilatation treated with medical therapy. Methods: Retrospective analysis performed on 191 pediatric patients with normally functioning BAV followed from 2005 to 2021 with serial examinations. Results: Aortic root dilatation was observed in 46.3% of patients, was mainly localized at the proximal ascending aorta and judged mild. After a mean follow-up of 3.7 ± 2.7 years among 175 untreated patients 52.6% presented a new onset or progressive aortic root dilatation (“progressive”) while 47.4% presented normal and stable aortic diameters. Eight percent of untreated patients with a mild aortic dilatation at baseline presented a normalization of aortic diameters. “Progressive” patients presented more frequently a BAV with a raphe (73.9% vs 57.8%, p = .037) and a mild aortic regurgitation (76% vs 45.8%, p = .00007). Thirty “progressive” patients were treated with medical therapy. After a mean follow-up of 3.3 ± 2.3 years no significant differences were observed between aortic root z score progression in “stable”, “progressive” and “treated” patients. Conclusions: In a small cohort of patients with normally functioning BAV a raphe and a mild regurgitation are common in progressive aortic dilatation. Medical therapy didn't affect aortic dilatation in patients with progressive and mild dilatation. A randomized controlled trial is needed.

The article presents a case study of a 13-year-old female with severe infantile Marfan syndrome, emphasizing the rarity of the disease and its life-threatening potential due to refractory heart failure caused by severe mitral valve regurgitation. Topics discussed include the patient's surgical treatment for mitral valve prolapse and aortic root dilation, and the challenges of managing aortic root dilation in pediatric patients.

Aims  In this study, we will describe a comprehensive haemodynamic analysis and its relationship to the dilation of the aorta in transposition of the great artery (TGA) patients post-arterial switch operation (ASO) and controls using 4D-flow magnetic resonance imaging (MRI) data. Methods and results  Using 4D-flow MRI data of 14 TGA young patients and 8 age-matched normal controls obtained with 1.5 T GE-MR scanner, we evaluate 3D maps of 15 different haemodynamics parameters in six regions; three of them in the aortic root and three of them in the ascending aorta (anterior-left, -right, and posterior for both cases) to find its relationship with the aortic arch curvature and root dilation. Differences between controls and patients were evaluated using Mann–Whitney U test, and the relationship with the curvature was accessed by unpaired t- test. For statistical significance, we consider a P -value of 0.05. The aortic arch curvature was significantly different between patients 46.238 ± 5.581 m−1 and controls 41.066 ± 5.323 m−1. Haemodynamic parameters as wall shear stress circumferential (WSS-C), and eccentricity (ECC), were significantly different between TGA patients and controls in both the root and ascending aorta regions. The distribution of forces along the ascending aorta is highly inhomogeneous in TGA patients. We found that the backward velocity (B-VEL), WSS-C, velocity angle (VEL-A), regurgitation fraction (RF), and ECC are highly correlated with the aortic arch curvature and root dilatation. Conclusion  We have identified six potential biomarkers (B-VEL, WSS-C, VEL-A, RF, and ECC), which may be helpful for follow-up evaluation and early prediction of aortic root dilatation in this patient population. [ABSTRACT FROM AUTHOR]

Objectives: The objective of the study was to quantify the differences in cusp size and shape in patients with normal and dilated trileaflet aortic roots and in dilated roots with or without aortic regurgitation., Methods: A retrospective analysis of computed tomography studies in patients with normal and dilated trileaflet aortic roots was performed measuring root and cusp dimensions. Normal root size was defined as sinuses of Valsalva diameter less than 40 mm, dilated as 45 mm or greater. Root measurements normalized to basal ring diameter and cusp measurements normalized to geometric height were analyzed to assess the shape. Additionally, comparison of dilated roots with or without aortic regurgitation was made., Results: We analyzed 146 normal and 104 dilated aortic roots and 73 propensity-matched pairs. Dilated roots were larger in all dimensions and had increased ratio between commissural and basal ring diameter (1.58 ± 0.23 vs 1.11 ± 0.10, P < .001). Cusps in dilated roots were larger in all measured dimensions and were elongated with increased normalized cusp insertion length (3.64 ± 0.39 vs 3.26 ± 0.20, P < .001) and normalized free margin length (2.53 ± 0.30 vs 2.16 ± 0.19, P < .001). In patients with dilated root and no cusp prolapse (n = 83), those with moderate or severe aortic regurgitation had larger commissural diameter but similar cusp dimensions compared with those with no or mild aortic regurgitation., Conclusions: The cusps in dilated roots elongate transversely and to a lesser degree radially. Functional aortic regurgitation is caused by extensive commissural dilatation and not by inadequate cusp adaptation., Competing Interests: Conflict of Interest Statement The authors reported no conflicts of interest. The Journal policy requires editors and reviewers to disclose conflicts of interest and to decline handling or reviewing manuscripts for which they may have a conflict of interest. The editors and reviewers of this article have no conflicts of interest., (Copyright © 2024 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.)

Systemic hypertension (SH) in dogs typically occurs secondary to renal disease, diabetes mellitus, hyperadrenocorticism, malignant adrenal tumors, or various medications. Echocardiography performed on people with SH has shown asymmetric dilation of the sinuses at the level of the aortic valves, previously undescribed in canine patients. The objective of this retrospective case‐control study was to determine if there was a difference in size and shape of the aortic cusps at the level of the sinus of Valsalva in dogs with SH compared to dogs with normal blood pressure. We reviewed echocardiographic findings in 74 dogs with SH and 37 dogs with normal blood pressure (NBP), defined as less than 150 mmHg. Systemic hypertension was classified as mild (150‐159 mm Hg), moderate (160‐179 mm Hg), or severe (greater than 180 mm Hg). There was a significant difference (P <.001) in the mean size of the aorta cusps at the level of the sinuses in 67 of 74 dogs with SH and none of 37 dogs with NBP. Of the 74 dogs with SH, 70 had left ventricular hypertrophy (18 asymmetric, 15 concentric, and 37 eccentric). Additionally, there was aortic root dilatation in 15 dogs, aortic insufficiency in 21, mitral regurgitation in 50, and left atrial enlargement in 71. The standard deviation of the three cusp measurements between the dogs with SH and dogs with NBP had a sensitivity of 92% and specificity of 97% for diagnosis of SH. Asymmetric size of the aortic cusps on echocardiography is therefore a reliable indicator of SH in dogs. [ABSTRACT FROM AUTHOR]

Introduction: Aortic root dilatation is a frequent disease affecting mostly young patients that often requires surgical repair. Surgical techniques in young patients include aortic valve-sparing procedures to avoid prosthetic valve implant. Objective: The aim of this paper is to describe the results obtained in three patients with aortic root dilatation using the Florida Sleeve technique. Methods: From November 2015 to January 2017, three patients with severe aortic regurgitation due to aortic anuloectasic were intervened applying the Florida Sleeve technique. Results: Excellent postoperative results were obtained in the three cases including freedom of aortic regurgitation and any cause re-operation during three years of follow-up. Conclusion: The Florida Sleeve technique is a safe, reproducible technique with a learning curve and lower surgical times than traditional techniques. The medium-term clinical outcomes in terms of morbidity and mortality are good. [ABSTRACT FROM AUTHOR]

Patients with aortic valve disease can suffer from valve insufficiency after valve repair surgery due to aortic root dilatation. The paper investigates the effect of valve height (Hv) on the aortic valve opening and closing in order to select the appropriate range of Hv for smoother blood flow through the aortic valve and valve closure completely in the case of continuous aortic root dilatation. A total of 20 parameterized three-dimensional models of the aortic root were constructed following clinical surgical guidance. Aortic annulus diameter (DAA) was separately set to 26, 27, 28, 29, and 30 mm to simulate aortic root dilatation. HV value was separately set to 13.5, 14, 14.5, and 15 mm to simulate aortic valve alterations in surgery. Time-varying pressure loads were applied to the valve, vessel wall of the ascending aorta, and left ventricle. Then, finite element analysis software was employed to simulate the movement and mechanics of the aortic root. The feasible design range of the valve size was evaluated using maximum stress, geometric orifice area (GOA), and leaflet contact force. The results show that the valve was incompletely closed when HV was 13.5 mm and DAA was 29 or 30 mm. The GOA of the valve was small when HV was 15 mm and DAA was 26 or 27 mm. The corresponding values of the other models were within the normal range. Compared with the model with an HV of 14 mm, the model with an HV of 14.5 mm could effectively reduce maximum stress and had relatively larger GOA and less change in contact force. As a result, valve height affects the performance of aortic valve opening and closing. Smaller HV is adapted to smaller DAA and vice versa. When HV is 14.5 mm, the valve is well adapted to the dilatation of the aortic root to enhance repair durability. Therefore, more attention should be paid to HV in surgical planning.

Patients with aortic valve disease can suffer from valve insufficiency after valve repair surgery due to aortic root dilatation. The paper investigates the effect of valve height (Hv) on the aortic valve opening and closing in order to select the appropriate range of Hv for smoother blood flow through the aortic valve and valve closure completely in the case of continuous aortic root dilatation. A total of 20 parameterized three-dimensional models of the aortic root were constructed following clinical surgical guidance. Aortic annulus diameter (DAA) was separately set to 26, 27, 28, 29, and 30 mm to simulate aortic root dilatation. HV value was separately set to 13.5, 14, 14.5, and 15 mm to simulate aortic valve alterations in surgery. Time-varying pressure loads were applied to the valve, vessel wall of the ascending aorta, and left ventricle. Then, finite element analysis software was employed to simulate the movement and mechanics of the aortic root. The feasible design range of the valve size was evaluated using maximum stress, geometric orifice area (GOA), and leaflet contact force. The results show that the valve was incompletely closed when HV was 13.5 mm and DAA was 29 or 30 mm. The GOA of the valve was small when HV was 15 mm and DAA was 26 or 27 mm. The corresponding values of the other models were within the normal range. Compared with the model with an HV of 14 mm, the model with an HV of 14.5 mm could effectively reduce maximum stress and had relatively larger GOA and less change in contact force. As a result, valve height affects the performance of aortic valve opening and closing. Smaller HV is adapted to smaller DAA and vice versa. When HV is 14.5 mm, the valve is well adapted to the dilatation of the aortic root to enhance repair durability. Therefore, more attention should be paid to HV in surgical planning. [ABSTRACT FROM AUTHOR]

Abstract Aims/Introduction Recently, some data have supported the concept that diabetes is negatively associated with aortic aneurysm. In the present study, we aimed to investigate the relationship between diabetes and cardiac structural and functional characteristics, in particular, aortic root dimensions, in end‐stage renal disease (ESRD) patients. Methods ESRD patients receiving peritoneal dialysis for >3 months were consecutively enrolled. Clinical features and echocardiographic parameters were analyzed according to the presence of diabetes history. Correlation analyses were carried out for diabetes mellitus and aortic root dilatation. Multiple logistic regression analysis was carried out to identify variables correlated with aortic root dilatation. Results A total of 218 ESRD patients receiving peritoneal dialysis were enrolled. Patients with diabetes showed lower left ventricular internal measurements in end‐diastole, left ventricular internal measurements in end‐systole and aortic root diameter (ARD)/body surface area (BSA). Worse cardiac diastolic function was also observed in these patients. In addition, the age‐related increase of ARD/BSA and ARD/height was attenuated in patients with diabetes. With the increase of ARD/BSA, lower levels of serum creatinine, phosphorus and serum glucose, as well as higher serum high‐density lipoprotein cholesterol and apolipoprotein A‐1 were also observed. Increased normalized left ventricular internal measurements were shown in patients with greater ARD/BSA. Multiple regression analysis showed that diabetes (odds ratio 0.353, P = 0.015) was an independent correlate of aortic root dilatation, even after correction for age, sex and other clinical confounders in the enrolled patients. Conclusions The present findings shown an inverse association between diabetes and age‐related aortic root dilatation in ESRD patients. Diabetes remained to be independently correlated with aortic root dilatation even after adjustment for age, sex and other clinical confounders in ESRD patients.

Background: Cardiovascular magnetic resonance (CMR) is considered the method of choice for evaluation of aortic root dilatation in congenital heart disease. Usually, a cross-sectional 2D cine stack is acquired perpendicular to the vessel's axis. However, this method requires a considerable patient collaboration and precise planning of image planes. The present study compares a recently introduced 3D self-navigated free-breathing high-resolution whole heart CMR sequence (3D self nav) allowing a multiplanar retrospective reconstruction of the aortic root as an alternative to the 2D cine technique for determination of aortic root diameters. Methods: A total of 6 cusp-commissure (CuCo) and cusp-cusp (CuCu) enddiastolic diameters were measured by two observers on 2D cine and 3D self nav cross-sectional planes of the aortic root acquired on a 1.5 T CMR scanner. Asymmetry of the aortic root was evaluated by the ratio of the minimal to the maximum 3D self nav CuCu diameter. CuCu diameters were compared to standard transthoracic echocardiographic (TTE) aortic root diameters. Results: Sixty-five exams in 58 patients (32 ± 15 years) were included. Typically, 2D cine and 3D self nav spatial resolution was 1.1–1.52 × 4.5-7 mm and 0.9–1.153 mm, respectively. 3D self nav yielded larger maximum diameters than 2D cine: CuCo 37.2 ± 6.4 vs. 36.2 ± 7.0 mm (p = 0.006), CuCu 39.7 ± 6.3 vs. 38.5 ± 6.5 mm (p < 0.001). CuCu diameters were significantly larger (2.3–3.9 mm, p < 0.001) than CuCo and TTE diameters on both 2D cine and 3D self nav. Intra- and interobserver variabilities were excellent for both techniques with bias of -0.5 to 1.0 mm. Intra-observer variability of the more experienced observer was better for 3D self nav (F-test p < 0.05). Aortic root asymmetry was more pronounced in patients with bicuspid aortic valve (BAV: 0.73 (interquartile (IQ) 0.69; 0.78) vs. 0.93 (IQ 0.9; 0.96), p < 0.001), which was associated to a larger difference of maximum CuCu to TTE diameters: 5.5 ± 3.3 vs. 3.3 ± 3.8 mm, p = 0.033. Conclusion: Both, the 3D self nav and 2D cine CMR techniques allow reliable determination of aortic root diameters. However, we propose to privilege the 3D self nav technique and measurement of CuCu diameters to avoid underestimation of the maximum diameter, particularly in patients with asymmetric aortic roots and/or BAV. [ABSTRACT FROM AUTHOR]

Bicuspid aortic valve (BAV) is characterized by elevated risk of aortic dilatation and aneurysm. Although genetic susceptibility is suspected to influence on the development of BAV aortopathy, clinical application of genetic markers still needs validation in BAV entities with strictly defined phenotypic features. The 'root phenotype' represents a young, male predominant, and severely aortic regurgitant BAV population prone to aortic root dilatation. The present study launched a two-step genetic survey to evaluate the clinical significance of germline genetic markers in BAV patients. The whole-exome sequencing (WES) cohort consisted of 13 BAV patients with 'root phenotype' under the age of 40 years. We identified 28 different heterozygous missense mutations in 19 genes from the WES cohort, among which six variants (COL1A2 R882C, COL5A1 I1161F, ACVRL1 R218W, NOTCH1 P1227S, MYLK S243W, MYLK D717Y) were identified as pathogenic variants via unanimous agreement of in silico prediction tool analysis, and three variants (C1R I345L, TGFBR2 V216I, FBN2 G475V) were identified as recurrent variants. The panel of nine genetic markers was tested in an independent validation cohort of 154 BAV patients consecutively included from January to May 2018 in our institution. The validation cohort demonstrated 71.4% male predominance and the average age of 57 ± 13 years, among which 26.6% showed aortic root dilatation and 66.9% ascending aortic dilatation. Genetic markers were found in 32 patients, including 18 with C1R I345L, 11 with TGFBR2 V216I, 2 with FBN2 G475V, and 1 with both TGFBR2 V216I and MYLK D717Y. BAV patients carrying these genetic markers demonstrated younger age [(51 ± 12) vs. (58 ± 13) years, P = 0.014], more moderate to severe aortic regurgitation (56.2% vs. 33.6%, P = 0.019), elevated prevalence of mitral valve prolapse (9.4% vs. 0.8%, P = 0.028) and aortic root dilatation (62.5% vs. 17.2%, P < 0.001) but not ascending aortic dilatation than those without these markers. The early-onset 'root phenotype' entities displayed great value for BAV genetic surveys. As one of the promising complements of the current risk stratification system, recurrent germline mutations in TGFBR2, C1R, FBN2 genes could be identified and applied as genetic markers of elevated susceptibility for aortic root but not ascending aortic dilatation among BAV patients. [ABSTRACT FROM AUTHOR]

N/A

Extracardiac total cavopulmonary connection (EC TCPC) is the end stage of hemodynamic correction in patients with a functional single ventricle (SV). The dilatation of the aortic root and proximal portion of the ascending aorta (Ao) has a progressive nature in this cohort of patients. The purpose of this article is to analyse the dynamics of root and proximal Ao dilatation in patients after EC TCPC in the long-term period. Material and methods. In the period from 2005 to 2016, 137 patients with hemodynamic SV underwent EC TCPC surgery, with hospital mortality being 2.3% (n = 3). Pre- and postoperative data of the aortic root and ascending Ao dilatation have been studied in the group of 116 (84.7%) patients. Result and discussion. According to the statistical evidence, Ao dilatation has been observed mainly in older patients (older than 10 years) at the time of hemodynamic correction end stage, with longer exposure to chronic hypoxia, respectively. Transposition of the great arteries and/or pulmonary artery atresia with the left type of SV proved to be major risk factors. Conclusions. Aortic root and ascending Ao dilatation has a progressive nature in patients with functional SV after the end stage of hemodynamic correction. The patient’s age, initial SV anatomy (anatomy of the great arteries and SV morphological type) are predictors of Ao dilatation.

Background: Dilatation of the ascending aorta has an important role in the anatomical conformation of interatrial septum (IAS) especially when a patent foramen ovale (PFO) is present. The aim of the study was to investigate the relationship between ascending aortic dilation and PFO‐related cryptogenic stroke in a cohort of cryptogenic strokes. Methods: It is a retrospective, single‐center echocardiographic study assessing aortic root dilatation in 315 consecutive patients with cryptogenic stroke between January 2011 and January 2019. Aortic root dilatation was defined by a diameter of the Valsalva sinuses of the proximal aorta >40 mm. Predictive factors of PFO were assessed by a multivariate analysis. Propensity score matching was applied to account for clinical differences. Results: Of the 315 patients, 68 (22%) had an aortic root dilatation and 167 (53%) had a PFO. In the aortic root dilation group, PFO was more often diagnosed (n = 47/68 [69%], vs n = 120/247 [49%], P =.004). In the PFO group with aortic dilatation, IAS was more mobile (n = 37/47[79%] vs n = 69/120[57%], P <.012) and smaller (2.3 ± 0.5 vs 2.5 ± 0.5 mm, P <.009). On multivariate analysis, aortic root dilatation (OR: 2.6; 95% CI [1.2–5.6]; P =.001) and IAS hypermobility (OR: 5.2 95% CI [2.7–10]; P =.001) were associated with PFO. After propensity matching, aortic root dilatation remained strongly associated with PFO (n = 34/107 [32%] vs 15/107[14%], P =.002). Conclusion: Aortic root dilation and IAS hypermobility were strongly associated with PFO‐related cryptogenic stroke. [ABSTRACT FROM AUTHOR]

Open in new tab Download slide Open in new tab Download slide OBJECTIVES Aortic root and ascending aorta replacements (AARs) are rarely required in the paediatric population. We report here a series of AAR performed in young children using different surgical techniques. METHODS Between 1995 and 2017, 32 children under the age of 10 years (median age 5.4 years) underwent AAR procedures at our institution. Twenty-two (69%) had a connective tissue disease (infantile Marfan syndrome or Loeys–Dietz syndrome). We performed 11 AAR using a composite graft with a mechanical prosthesis and 21 valve-sparing procedures (10 Yacoub operations and 11 David operations). Median follow-up for operative survivors was 7.7 years (interquartile range 4.2–12.8 years). RESULTS The cardiac-related early mortality rate was 6%. Patient survival was 91% at both 1 and 10 years. Eleven survivors (38%), all with a status of post-valve-sparing procedure, required an aortic root reintervention with an aortic valve replacement after a median interval of 4.2 years. Interestingly, only patients with infantile Marfan syndrome tended to be associated with risk of reoperation. CONCLUSIONS Aortic root and AARs are safe in young children whatever the surgical procedure. Aortic valve-sparing procedures show good long-term results except in children with infantile Marfan syndrome whose ineluctable aortic annulus dilatation or aortic valve regurgitation requires reintervention after a short period. [ABSTRACT FROM AUTHOR]

Neonatal Marfan syndrome is a rare condition with poor prognosis. It is genotypically and phenotypically distinct from classical Marfan syndrome, as it presents with a higher incidence of atrioventricular valve regurgitation and early mortality due to fibrillin 1 (FBN1) gene mutations in exons 23–32. This case series describes two cases of neonatal Marfan syndrome with favorable clinical status at 4 and 2.5 years of age (Patient 1 and Patient 2, respectively). Both patients were noted to have typical Marfanoid physical characteristics after birth, including arachnodactyly and dilated aortic root. Genetic analysis confirmed FBN1 mutation in exons 26 and 27 in patient 1 and patient 2, respectively. Both patients are treated with atenolol and losartan. Patient 2 required valve-sparing aortic root replacement at 24 months of age. Both patients are doing well clinically past the first year of life, which is a rare but favorable clinical outcome for patients with neonatal Marfan syndrome. Our cases highlight that FBN1 mutations result in a broad range of phenotypes and clinical severity, even if the mutations are located in the neonatal region. • Neonatal Marfan syndrome is rare compared to classical Marfan syndrome • Early diagnosis and the initiation of treatment is essential to prevent the development of refractory heart failure • Both of our patients were diagnosed very early on after birth due to peculiar clinical features and confirmation with genetic testing. • In both cases early diagnosis helped modify the disease course by close monitoring and initiation of beta blocker therapy. [ABSTRACT FROM AUTHOR]

Objectives: In patients with aortic root aneurysm, the aortic basal ring is frequently dilated. It has been speculated that the muscular part of the basal ring dilates most. The purpose of this study was to analyse the segmental dilatation of the basal ring, comparing normal and dilated roots in patients with tricuspid aortic valves., Methods: Retrospective analysis of computed tomography studies in patients with normal and dilated aortic roots was performed. Lengths of segments of the basal ring corresponding to each of the 3 sinuses, and to the muscular and fibrous parts were measured. Fractions of these segments relative to the total basal ring perimeter were calculated., Results: We analysed 152 normal and 126 dilated aortic roots and 86 propensity-matched pairs. Basal ring dilatation was present in all segments of dilated aortic roots with subtle differences between the segments corresponding to the 3 sinuses. The muscular part of the basal ring dilated proportionately to its fibrous part, with no difference in fractions of measured muscular part in normal and dilated roots [42.2% (interquartile range 4.3%) vs 42.1% (interquartile range 6.3%)]., Conclusions: Basal ring dilatation was present in all segments corresponding to the 3 sinuses in dilated aortic roots. Both muscular and fibrous parts dilated equally, supporting the need to stabilize the entire basal ring when performing aortic valve repair surgery., (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery.)

Aims/Introduction: Recently, some data have supported the concept that diabetes is negatively associated with aortic aneurysm. In the present study, we aimed to investigate the relationship between diabetes and cardiac structural and functional characteristics, in particular, aortic root dimensions, in end‐stage renal disease (ESRD) patients. Methods: ESRD patients receiving peritoneal dialysis for >3 months were consecutively enrolled. Clinical features and echocardiographic parameters were analyzed according to the presence of diabetes history. Correlation analyses were carried out for diabetes mellitus and aortic root dilatation. Multiple logistic regression analysis was carried out to identify variables correlated with aortic root dilatation. Results: A total of 218 ESRD patients receiving peritoneal dialysis were enrolled. Patients with diabetes showed lower left ventricular internal measurements in end‐diastole, left ventricular internal measurements in end‐systole and aortic root diameter (ARD)/body surface area (BSA). Worse cardiac diastolic function was also observed in these patients. In addition, the age‐related increase of ARD/BSA and ARD/height was attenuated in patients with diabetes. With the increase of ARD/BSA, lower levels of serum creatinine, phosphorus and serum glucose, as well as higher serum high‐density lipoprotein cholesterol and apolipoprotein A‐1 were also observed. Increased normalized left ventricular internal measurements were shown in patients with greater ARD/BSA. Multiple regression analysis showed that diabetes (odds ratio 0.353, P = 0.015) was an independent correlate of aortic root dilatation, even after correction for age, sex and other clinical confounders in the enrolled patients. Conclusions: The present findings shown an inverse association between diabetes and age‐related aortic root dilatation in ESRD patients. Diabetes remained to be independently correlated with aortic root dilatation even after adjustment for age, sex and other clinical confounders in ESRD patients. [ABSTRACT FROM AUTHOR]

Proximal aortic enlargement is associated with an increased risk of heart failure and all-cause mortality. Recently, aortic root dilatation (ARD) was reported in postoperative patients with ventricular septal defects (VSDs). However, the impact of ARD on left ventricular (LV) function in postoperative VSD patients remains unclear. Thus, the aim of this study was to investigate the effect of ARD on LV function in patients with postoperative VSD. One hundred and thirty-five patients (> 15 years of age) with surgically repaired isolated ventricular defects and who underwent transthoracic echocardiography in our institution between 2009 and 2013 were identified. ARD was defined as an observed aortic root diameter/body surface area > 2.1 cm/m2. The propensity score estimating the probability of having ARD adjusted for anatomical and clinical characteristics was calculated. Forty-four patients (32.6%) had ARD. In unadjusted analyses, right ventricular systolic pressure, Tei index, and E/e' were significantly (p < 0.05) higher in patients with ARD than in those without ARD (31.3 ± 7.5 vs. 35.4 ± 13.7 mmHg, 0.32 ± 0.10 vs. 0.44 ± 0.15, and 7.1 ± 1.7 vs. 9.5 ± 2.9, respectively). In the propensity score-adjusted analysis, significant differences in the Tei index and E/e' were confirmed between the two groups (Tei index difference: 0.11, 95% confidence interval 0.05–0.17; E/e' difference: 2.4, 95% confidence interval 1.3–3.5). However, there were no differences in the other echocardiographic measurements. The presence of ARD in patients with postoperative VSD was significantly associated with LV diastolic dysfunction. Thus, surgically repaired VSD patients require careful screening for aortic enlargement and LV function. [ABSTRACT FROM AUTHOR]

The effect of pregnancy on aortic root in women with repaired conotruncal anomalies (CTA) has not been clarified. This study examined aortic diameters during and after pregnancy in women with repaired CTA. A retrospective review of consecutive pregnant women with repaired CTA was performed for results of echocardiography from 1 year before pregnancy to 3 years after delivery and compared with findings from healthy pregnant volunteers. Participants comprised 42 subjects and 49 deliveries with repaired CTA (CTA group), and 47 healthy pregnant women (control group). Although no maternal aortic events were encountered, aortic diameters during pregnancy increased by 1.0 ± 2.2 mm (maximum, 7.0 mm) in the CTA group and 0.6 ± 1.3 mm (maximum, 3.4 mm) in the control group (p = 0.13). The CTA subgroup with increase in aortic diameter ≥ 3.5 mm during pregnancy showed no reversion to baseline diameter at follow-up > 6 months after delivery. Significant risk factors for increased aortic diameter and no reversal included pulmonary atresia, history of aortopulmonary shunt, older age at repair, and smaller left ventricular end-diastolic diameter pre-pregnancy. Women with repaired CTA tolerated pregnancy and delivery well. However, the aortic root progressively dilated during pregnancy and 1/4 of them, especially those with longstanding high aortic blood flow before repair, showed an increase of aortic root size of ≥ 3.5 mm during the peripartum period; this dilatation tended not to revert to the pre-pregnancy diameter. Therefore, serial measurement of the aortic root during pregnancy and after delivery is recommended in these women. [ABSTRACT FROM AUTHOR]

Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. The aim of the study was to compare cardiovascular manifestation of MFS between children and adults. The study population consisted of 236 patients (144 children and 92 adults), who were referred to our department with suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 101 (44 children and 57 adults) out of the 236 patients. The other patients were diagnosed with Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, ectopia lentis syndrome, marfanoid habitus and other rare syndromes. The most common cardiovascular abnormality was aortic root dilatation (81.19% of patients). It was found that both adults and children had similar high rates of aortic root dilatation. Similarly, there was no significant difference with regard to the prevalence of aortic valve regurgitation and mitral valve prolapse among children and adults. These findings equivocally indicate that the aforementioned abnormalities develop in early childhood, therefore, they may be used in the early identification of patients with MFS. Other assessed abnormalities, which included mitral valve regurgitation, pulmonary artery dilation, aneurysms of aortic arch, descending thoracic aorta and abdominal aorta were found mostly in adults, and thus, are of less use in the early detection of MFS. [ABSTRACT FROM AUTHOR]

Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic root dilatation and the long-term effects of enzyme replacement therapy (ERT) in these patients. Methods: We reviewed echocardiograms of 125 Taiwanese MPS patients (age range, 0.1 to 19.1 years; 11 with MPS I, 49 with MPS II, 25 with MPS III, 29 with MPS IVA, and 11 with MPS VI). The aortic root diameter was measured at the sinus of Valsalva. Results: Aortic root dilatation (z score >2) was observed in 47% of the MPS patients, including 66% of MPS IV, 51% of MPS II, 45% of MPS VI, 28% of MPS III, and 27% of MPS I patients. The mean aortic root diameter z score was 2.14 (n = 125). The patients with MPS IV had the most severe aortic root dilatation with a mean aortic root diameter z score of 3.03, followed by MPS II (2.12), MPS VI (2.06), MPS III (1.68), and MPS I (1.03). The aortic root diameter z score was positively correlated with increasing age (n = 125, p < 0.01). For the patients with MPS II, III, and IV, aortic root diameter z score was also positively correlated with increasing age (p < 0.01). For 16 patients who had received ERT and had follow-up echocardiographic data (range 2.0–16.2 years), the mean aortic root diameter z score change was −0.46 compared to baseline (baseline 2.49 versus follow-up 2.03, p = 0.490). Conclusions: Aortic root dilatation was common in the patients with all types of MPS, with the most severe aortic root dilatation observed in those with MPS IV. The severity of aortic root dilatation worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS appears to stabilize the progression of aortic root dilatation.

Objectives: The association between the aortic root diameter and aortic regurgitation in hypertensive and normotensive people is still disputed, and the underlying mechanisms remain to be clearly elucidated. We aimed to investigate the relationship between the aortic root diameter and trivial to mild functional aortic regurgitation in never‐treated hypertensive patients with a new diagnosis compared with healthy normotensive participants. Methods: A total of 182 hypertensives and 232 age‐matched normotensives were included in the study. Anthropometric and office blood pressure (BP) measurements, echocardiography, and a carotid stiffness assessment were performed in all of the participants. Aortic measures for the annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta were taken in late diastole according to the leading‐edge method. Results: The mean age of all participants was 52 years. Hypertensive patients had a significantly higher body surface area, mean arterial pressure, and pulse pressure (P < .0001) than normotensive participants. Annulus and sinotubular junction diameters adjusted for confounders and indexed to the body surface area were significantly higher in normotensives than in hypertensives. The prevalence of functional aortic regurgitation was higher in hypertensives (34.8% versus 15.4%; P < .0001). Among the hypertensives, no difference in aortic diameters was found between patients with or without functional aortic regurgitation, whereas normotensives with functional aortic regurgitation had larger aortic root diameters. Aging and BP among the hypertensives were the main determinants of functional aortic regurgitation. Conclusions: Hypertensive patients had a smaller indexed aortic root diameter than normotensive participants but had a higher prevalence of trivial to mild functional aortic regurgitation. The aging process is the main determinant of functional aortic regurgitation in both groups, but high BP also plays an important role in hypertensives. [ABSTRACT FROM AUTHOR]

Aortic root dilatation and its complications are known to be the most important and life limiting features in patients with Marfan syndrome (MFS). Since monitoring of patients, preventive medical and surgical treatments are available nowadays, other MFS pathologies are becoming more relevant for the outcome of the disease. Main pulmonary artery (MPA) dilatation is a cardiac finding, which has not been fully investigated in children. Due to the similarities in tissue composition of the aortic and pulmonary root, MPA dilatation may cause complications and require treatment. In addition, it may be a predictor for severe connective tissue involvement. We retrospectively examined 135 pediatric patients with MFS. 8.1% showed MPA dilatation. MPA dilatation was associated with earlier occurrence of aortic dilatation, mitral valve prolapse, and systemic manifestations of MFS compared with patients without MPA dilatation (p < 0.05). The presence of MPA dilatation was also associated with a higher incidence of ectopia lentis (p < 0.05). Medical treatment was started earlier in MPA dilatation patients than in those without (p < 0.05). We conclude that MPA dilatation is a sign of more severe vascular and connective tissue involvement. Regular examination of the pulmonary artery is essential in MFS to avoid complications. As medical treatment of life threatening MFS events has improved, other features of MFS need to be investigated to improve quality of life. [ABSTRACT FROM AUTHOR]