Echocardiographic features and pathological ultrastructural characteristics of fetal interruption of aortic arch. / èƒŽå„¿ä¸»åŠ¨è„‰å¼“ç¦»æ–­çš„è¶ å£°å¿ƒåŠ¨å›¾å’Œç— ç†å­¦è¶ å¾®ç»“æž„ç‰¹å¾.

OBJECTIVES: Interruption of aortic arch (IAA) is a rare congenital heart disease. This study aims to investigate echocardiographic features and pathological ultrastructural characteristics of fetal IAA and to further analyze its pathological evolution. METHODS: A retrospective analysis was conducted on prenatal echocardiographic, post-surgical, or autopsy findings of fetuses prenatally diagnosed with IAA. Prenatal echocardiographic tracking was used to observe the internal diameters and Z-scores of different segments of the aortic arch and the changes in the narrowed section. These observations were combined with autopsy and pathological findings to explore the potential intrauterine evolution of IAA and its cytological basis. RESULTS: The study included 34 fetuses with IAA, with 3, 3, and 28 fetuses prenatally diagnosed with aortic arch dysplasia (AAD), coarctation of aorta (CoA), and IAA, respectively. The 3 AAD and 3 CoA fetuses chose termination of pregnancy 1 to 2 weeks after prenatal ultrasound diagnosis, and autopsy confirmed IAA. Among the 28 fetuses prenatally diagnosed with IAA, 6 cases of CoA progressively worsened, eventually evolving into type A IAA as observed through echocardiographic follow-up. The remaining 22 cases were diagnosed as IAA on the first prenatal ultrasound. Postnatal surgery corrected 3 cases, while 27 cases opted for pregnancy termination, and 4 cases resulted in intrauterine death. Echocardiographic features of the fetal IAA included a significantly smaller left ventricle compared with the right or negligible difference on the four-chamber view, a significantly smaller aorta than the pulmonary artery on the three-vessel view, and a lack of connection between the aorta and the descending aorta on the three-vessel-trachea and aortic arch views. The aortic arch appears less curved and more rigid, losing the normal "V" shape between the aorta, ductus arteriosus, and descending aorta. Color Doppler ultrasound showed no continuous blood flow signal at the interruption site, with reversed blood flow visible in the ductus arteriosus. Transmission electron microscopy of 7 IAA fetuses revealed numerous disorganized smooth muscle cells between the elastic membranes near the aortic arch interruption site, significantly increased in number compared with the proximal ascending aorta. The elastic membranes were thicker and more twisted near the interruption site. The interruption area lacked normal endothelial cells and lumen, with only remnants of necrotic endothelial cells, disorganized short and thick elastic membranes, and randomly arranged smooth muscle cells. CONCLUSIONS: Prenatal echocardiography is the primary diagnostic tool for fetal IAA. Post-surgical follow-up and autopsy help identify complications and disease characteristics, enhancing diagnostic accuracy. Some fetal IAA may evolve from AAD or CoA, with potential pathogenesis related to ischemia, hypoxia, and migration of ductal constrictive components.

Echocardiography of persistent fifth aortic arch confirmed by computed tomography angiography or surgery in children: a case series.

BACKGROUND: The purpose of this study was to review echocardiography-based diagnosis of persistent fifth aortic arch (PFAA) in children. METHODS: From January 2015 to December 2022, we retrospectively analyzed the echocardiographic findings and the relevant clinical data during follow-up of patients with PFAA who were treated in the Third Affiliated Hospital of Zhengzhou University. The diagnosis was confirmed by computed tomography angiography or surgery. RESULTS: Seven PFAA cases included two Weinberg type A and five Weinberg type B. The anatomical details of PFAA were assessed using a combination of the long-axis view of the left ventricular outflow tract (from the left high parasternal window) and the long-axis view of the aortic arch (from the suprasternal window). In Weinberg type A, the distal fifth and fourth aortic arches were connected to the descending aorta, which was associated with aortic coarctation. In Weinberg type B, the upper arch of the fourth aorta was interrupted, and only the lower arch of the fifth aorta was connected to the descending aorta. Surgical repair of PFAA was indicated in five patients with blood flow disruption, among which four had good postoperative results and one refused surgery. Two patients with unobstructed PFAA blood flow required follow-up rather than surgery. CONCLUSIONS: It is feasible to diagnose PFAA by echocardiography. Combined application of the high parasternal left ventricular outflow tract view and the suprasternal aortic arch view can improve timely detection of different types of PFAA in children.

Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate.

Generalized arterial calcification of infancy (GACI) is a rare genetic condition with varied clinical presentation. Consequently, diagnosis is frequently delayed or missed. GACI has a poor prognosis, with more than half of patients dying before the age of 6 months. Early diagnosis and treatment with bisphosphonates have been shown to improve survival in these patients. This is a case report of a newborn with respiratory distress who was initially diagnosed with coarctation of the aorta at echocardiography. Further imaging with CT revealed the aortic narrowing to be associated with GACI. Keywords: Genetic Defects, Congenital, Vascular, Calcification/Calculi, Aorta, Pulmonary Arteries, CT Angiography, Echocardiography, Pediatrics © RSNA, 2024.

Influence of Aortic Arch Morphology on Renal Perfusion in Patients with Coarctation of the Aorta: An Exploratory Study.

Objectives: The configuration of the aortic arch, particularly a Gothic arch shape, in individuals with corrected coarctation of the aorta (CoA) has been associated with a decreased systolic wave amplitude across the arch, which could potentially impair renal perfusion and elevate the risk of arterial hypertension. This study aims to explore the relationship between the morphological characteristics of the aortic arch and their impact on renal perfusion in patients with CoA. Methods: Seventy-one subjects with corrected CoA underwent continuous 24 h ambulatory blood pressure monitoring, computed tomography to assess the aortic arch, and renal perfusion scanning. Subjects were stratified into three groups based on the height-to-width (H/W) ratio of their aortic arch: Group 1 with a H/W ratio of <0.65, Group 2 with a H/W ratio between 0.65 and 0.85, and Group 3 with a H/W ratio of >0.85. Results: Groups 1 and 2 (53,78% and 62.63%) presented with a higher hypertension prevalence of elevated blood pressure than Group 3 (38.89%). Notable variations were observed among the subjects in the time to peak perfusion (Tmax) in the left kidney across the groups. Group 1 showed a median Tmax at 0.27, Group 2 at 0.13, and Group 3 at -0.38 (p-value = 0.079). The differences in Tmax for the right kidney followed a similar trend but were not statistically significant (Group 1 at 0.61, Group 2 at 0.22, and Group 3 at 0.11; p-value = 0.229). Conclusions: This study suggests that variations in the aortic arch morphology might not significantly influence renal perfusion in CoA patients. This indicates the potential adaptability of the renal blood flow, which appears to compensate for reduced perfusion, thus minimizing adverse effects on the kidney function. This adaptability suggests an inherent physiological resilience, emphasizing the need for further targeted research to understand the specific interactions and impacts on treatment strategies for CoA.

Mid-aortic syndrome presented as dilated cardiomyopathy.

Mid-aortic syndrome (MAS) is a rare vascular disease that usually leads to renovascular hypertension. With the predominant manifestations being intractable arterial hypertension and lower extremity arterial insufficiency, it has rarely been associated with dilated cardiomyopathy. We report a young girl with congestive heart failure, where the cause was initially attributed to dilated cardiomyopathy. A repeated echocardiogram 6 months later brought the physician's suspicion of MAS because of the abnormal colour of Doppler from the subcostal view. Further assessment using CT angiography revealed discrete thoracic coarctation at the level of T10, with the narrowest diameter of 2.1 mm, thus confirming the diagnosis. Her inflammatory markers and connective tissue screening were negative. She underwent successful stenting of coarctation of the aorta, which later caused improvement in her cardiac function. We highlighted the importance of looking for treatable causes of dilated cardiomyopathy and vigilant clinical and echocardiogram assessment with high suspicion to diagnose MAS.

Aortic geometry and long-term outcome in patients with a repaired coarctation.

OBJECTIVE: This study aims to compare aortic morphology between repaired coarctation patients and controls, and to identify aortic morphological risk factors for hypertension and cardiovascular events (CVEs) in coarctation patients. METHODS: Repaired coarctation patients with computed tomography angiography (CTA) or magnetic resonance angiography (MRA) were included, followed-up and compared with sex-matched and age-matched controls. Three-dimensional aortic shape was reconstructed using patients' CTA or MRA, or four-dimensional flow cardiovascular magnetic resonance in controls, and advanced geometrical characteristics were calculated and visualised using statistical shape modelling. In patients, we examined the association of geometrical characteristics with (1) baseline hypertension, using multivariable logistic regression; and (2) cardiovascular events (CVE, composite of aortic complications, coronary artery disease, ventricular arrhythmias, heart failure hospitalisation, stroke, transient ischaemic attacks and cardiovascular death), using multivariable Cox regression. The least absolute shrinkage and selection operator (LASSO) method selected the most informative multivariable model. RESULTS: Sixty-five repaired coarctation patients (23 years (IQR 19-38)) were included, of which 44 (68%) patients were hypertensive at baseline. After a median follow-up of 8.7 years (IQR 4.8-15.4), 27 CVEs occurred in 20 patients. Aortic arch dimensions were smaller in patients compared with controls (diameter p<0.001, wall surface area p=0.026, volume p=0.007). Patients had more aortic arch torsion (p<0.001) and a higher curvature (p<0.001). No geometrical characteristics were associated with hypertension. LASSO selected left ventricular mass, male sex, tortuosity and age for the multivariable model. Left ventricular mass (p=0.014) was independently associated with CVE, and aortic tortuosity showed a trend towards significance (p=0.070). CONCLUSION: Repaired coarctation patients have a smaller aortic arch and a more tortuous course of the aorta compared with controls. Besides left ventricular mass index, geometrical features might be of importance in long-term risk assessment in coarctation patients.

PHACES syndrome and multi-regional odontodysplasia: a case report.

PHACES syndrome is an acronym for the syndromic presentation of Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of aorta/cardiac defects, Eye abnormalities and Sternal malformations. Infantile hemangiomas are the most common tumors of infancy. Regional odontodysplasia, commonly referred to as "ghost teeth", is a rare localized developmental malformation of enamel and dentin with varying levels of severity that results in unusual clinical and radiographic appearances of affected teeth. This report describes a rare case of a two-year-old Caucasian male diagnosed with PHACES syndrome also presenting with multi-regional odontodysplasia. Ten of twenty teeth were dysplastic. The patient was treated under general anesthesia in a hospital setting. All affected primary teeth were extracted due to sensitivity, abscess and extremely poor long-term prognosis. Moving forward, a long-term interdisciplinary approach will be necessary to address this child's dentition as it develops.

[Surgical Replacement of Descending Aorta for Adult Aortic Coarctation by Using Three-dimensional Computer Graphics Reconstruction].

Aortic coarctation is diagnosed in approximately 5% of adult patients with congenital heart disease and is commonly diagnosed through the close examination of hypertension. Various surgical strategies for adult coarctation have been recently reported. Generally, aortic replacement may require blood transfusion in case of injury of the well-developed collateral vessels. Therefore, in order to secure an operative safety, we preoperatively used a medical image viewer to identify the abnormal vessels by three-dimensional computer graphics (3DCG) reconstruction. A 34-year-old male patient was referred to our hospital with hypertension and low ankle-brachial pressure index( ABI). Chest computed tomography( CT) scan showed aortic coarctation and development of abnormal collateral vessels. Descending aorta was replaced via a left third-fourth intercostal thoracotomy under partial extracorporeal circulation. As the image viewer depicted, anatomical abnormality of the collateral vessels was identified precisely, and surgically treated without any injury. The patient was discharged 10 days postoperatively without transfusion and with a normalized ABI.

Results of the multicenter early feasibility study (EFS) of the Renata Minima stent as treatment for branch pulmonary artery stenosis and coarctation of aorta in infants.

BACKGROUND: Stent implantation has become standard of care in older children and adults for treatment of branch pulmonary artery stenosis (BPAS) and coarctation aorta (CoAo). There are no stents approved or available for infants that have the potential to be dilated to adult diameters. The Minima stent was designed to fulfill this unmet need. METHODS: Multicenter, prospective, nonrandomized early feasibility study evaluating safety and effectiveness of the Minima stent for treatment of BPAS and CoAo. Primary endpoints included: (1) successful deployment across lesion, (2) stenosis relief defined by an increase in angiographic diameter of >50% and (3) freedom from stent explant, embolization or migration at 30 days and 6 months. RESULTS: Between 2/2022 and 5/2022, 10 pts underwent Minima stent implantation with a median age and weight of 9 months (4-43 months) and 7.6 kg (5.1-16.9 kg). Procedural success and predefined stenosis relief was achieved in all cases (CoAo [n = 4], BPAS [n = 6]). Adverse events occurred in 3 pts: transient diminished lower extremity pulse (n = 2), distal stent on-balloon displacement successfully managed in the catheterization suite (n = 1). There were no deaths or major adverse events. All patients were free from stent explant and migration at 30 days and 6 months with no evidence for significant restenosis at latest follow-up. CONCLUSIONS: Implantation of the Renata Minima stent was safe and effective for the treatment of BPAS and CoAo in this small cohort of infants and young children during early follow-up. Based on these early results, an expanded study with longer follow-up is warranted.

Application of Computed Tomography Angiography in Preoperative Diagnosis of Coarctation of Aorta and Evaluation of Aortic Dilatation in Infants.

OBJECTIVE: To evaluate the occurrence of aortic dilatation and its associated predictors with coarctation of the aorta (CoA) in infants using multi-slice computed tomography (MSCT). METHODS: The clinical data of 47 infantile patients with CoA diagnosed by MSCT and 28 infantile patients with simple ventricular septal defect were analyzed retrospectively. Aortic diameters were measured at six different levels, and aortic sizes were compared by z score. The coarctation site-diaphragm ratio was used to describe the degree of narrowing. Relevant clinical data were collated and analyzed. RESULTS: The dilation rate and z score of the ascending aorta in the severe CoA group were significantly higher than those in the mild CoA group (11 [52.38%] vs. 21 [80.77%], P=0.038 and 2.00 ± 0.48 vs. 2.36 ± 0.43, P=0.010). Pearson's correlation analysis found that the z score of the ascending aorta was negatively correlated with the coarctation site-diaphragm ratio value (r=-0.410, P=0.004). A logistic retrospective analysis found that an increased degree of coarctation was an independent predictor of aortic dilatation (adjusted odds ratio 0.002; 95% confidence interval 0.00-0.819; P=0.043). The z score of the ascending aorta in the severe CoA group was significantly higher than that in the ventricular septal defect group (P<0.05). CONCLUSION: Most infants with CoA can also have significant dilatation of the ascending aorta, and the degree of this dilatation is related to the degree of coarctation. Assessment of aortic diameter and related malformations by MSCT can predict the risk of aortic dilatation in infants with CoA.

Correlation between pressure gradient from echocardiography and peak-to-peak pressure gradient from cardiac catheterization or surgery in patients with coarctation of aorta.

The gold standard for assessing pressure gradients (PG) across coarctation involves measurements obtained through cardiac catheterization or surgical intervention. There has been ongoing discussion regarding the accuracy of non-invasive methods for estimating these gradients. This study sought to establish the correlation and agreement between the systolic blood pressure (SBP) gradient between the upper and lower extremities, as well as, the mean and maximum PG derived from echocardiography, in comparison to the peak-to-peak pressure gradient obtained from either cardiac catheterization or surgery. We conducted a retrospective study on patients < 18 years diagnosed with coarctation at Chiang Mai University Hospital from 2011 to 2022. The study involved the measurement of the SBP gradient between the upper and lower extremities, mean and maximum PG using echocardiography, peak-to-peak pressure gradient obtained from cardiac catheterization, and pressure gradient recorded during surgical procedures. The Spearman's correlation and Bland-Altman analysis were employed to assess correlation and agreement. Fifty-four patients with aortic coarctation were enrolled. The mean PG measured by echocardiography showed a significantly moderate correlation (r = 0.78, p < 0.001) and the highest level of agreement according to Bland Altman plots, in comparison to the peak-to-peak pressure gradient measured during both cardiac catheterization and surgical procedure. The max PG demonstrated a notable overestimation compared to the gold standard (mean difference + 13.14 with a slope of biases + 0.64, p < 0.001). The mean PG obtained through echocardiography has more potential to be applied in practical application in predicting pressure gradient in patients with coarctation.

Coarctation of Aorta With Tricuspid Aortic Valve Is Not Associated With Ascending Aortic Aneurysm.

BACKGROUND: Aortic aneurysm is common in patients with coarctation of aorta (COA), but it is unclear whether the risk of aortic aneurysms is due to COA or related to the presence of other risk factors such as bicuspid aortic valve (BAV) and hypertension. OBJECTIVES: The purpose of this study was to assess the relationship among COA, BAV, and thoracic aortic aneurysms. METHODS: A total of 867 patients with COA (COA group) were matched 1:1:1 to 867 patients with isolated BAV (BAV group) and 867 patients without structural heart disease (SHD) (no-SHD group). The COA group was further subdivided into a COA+BAV subgroup (n = 304 [35%]), and COA with tricuspid aortic valve (TAV) (COA+TAV subgroup [n = 563 (65%)]). Aortic dimensions were assessed at baseline and at 3, 5, and 7 years. RESULTS: Compared with the no-SHD group, the COA+BAV subgroup had larger aortic root diameter (37 mm [Q1-Q3: 30-43 mm] vs 32 mm [Q1-Q3: 27-35 mm]; P < 0.001) and mid ascending aorta dimeter (34 mm [Q1-Q3: 29-40 mm] vs 28 mm [Q1-Q3: 24-31 mm]; P = 0.008). Similarly, the BAV group had larger aortic root diameter (37 mm [Q1-Q3: 30-42 mm] vs 32 mm [Q1-Q3: 27-35 mm]; P < 0.001), and mid ascending aorta dimeter (35 mm [Q1-Q3: 30-40 mm] vs 28 mm [Q1-Q3: 24-31 mm]; P < 0.001). Compared with the COA+TAV subgroup, the COA+BAV subgroup and BAV group were associated with larger aortic root and mid ascending aorta diameter at baseline and follow-up. The risk of acute aortic complications was low in all groups. CONCLUSIONS: These findings suggest that BAV (and not COA) was associated with ascending thoracic aorta dimensions, and that patients with COA+TAV were not at a greater risk of developing ascending aortic aneurysms as compared with patients without SHD.

The usefulness of staged extra-anatomic bypass for coarctation of the aorta with arch hypoplasia, from premature neonate to adult.

Various surgical techniques have been developed for coarctation of the aorta. However, coarctation repair in neonates with arch hypoplasia remains challenging. We herein report a case in which a premature neonate under 1500 g with coarctation of the aorta and arch hypoplasia underwent an extra-anatomical bypass at 18 days old. A second extra-anatomical bypass was performed at 3 years of age, and a third extra-anatomic bypass for recurrent coarctation was performed in adulthood. By increasing the size of the graft as the patient grows, extra-anatomic bypass can be a useful surgical option for premature neonates with coarctation and arch hypoplasia.

Association of Prenatally Diagnosed Isolated Single Left Superior Vena Cava and Postnatal Development of Coarctation of the Aorta.

To report the prevalence of coarctation of the aorta (CoA) in fetuses with single left superior vena cava (SL-SVC) and to evaluate changes in echocardiographic measurements. Additionally, to report the prevalence of associated malformations. Retrospective observational study of fetuses diagnosed with SL-SVC between 2012 and 2021 at a tertiary fetal cardiology unit. In fetuses without intracardiac abnormalities, Z-scores of the ventricles, great arteries, and Doppler flow patterns are reported. We identified 47 fetuses with SL-SVC of which 8/47 (17%) had abnormal intracardiac anatomy. One fetus was lost to follow-up. Of those with normal intracardiac anatomy and postnatal follow-up (38), karyotype abnormalities were confirmed in 2/38 (5%) and ECA in 8/38 (21%). 33/38 were live-born. None developed CoA postnatally. Paired analysis of Z-scores between early and late scans of 24 fetuses showed that diameters of the right heart structures and Doppler flows of tricuspid valve increased significantly during pregnancy, while the left heart structures and flow patterns did not change. The median risk of CoA did not change between the early and the late scan. We did not observe CoA in this cohort. A degree of ventricular asymmetry was present, but this was due to right heart dominance rather than hypoplasia of left heart structures. This likely reflects redistribution of blood and does not appear to confer increased risk of CoA. Predictive models of the postnatal development of CoA which set the dimensions of right and left heart structures in relation might not be applicable in this situation.

Non-invasive Estimation of Pressure Drop Across Aortic Coarctations: Validation of 0D and 3D Computational Models with In Vivo Measurements.

Blood pressure gradient ( Δ P ) across an aortic coarctation (CoA) is an important measurement to diagnose CoA severity and gauge treatment efficacy. Invasive cardiac catheterization is currently the gold-standard method for measuring blood pressure. The objective of this study was to evaluate the accuracy of Δ P estimates derived non-invasively using patient-specific 0D and 3D deformable wall simulations. Medical imaging and routine clinical measurements were used to create patient-specific models of patients with CoA (N = 17). 0D simulations were performed first and used to tune boundary conditions and initialize 3D simulations. Δ P across the CoA estimated using both 0D and 3D simulations were compared to invasive catheter-based pressure measurements for validation. The 0D simulations were extremely efficient ( ∼ 15 s computation time) compared to 3D simulations ( ∼ 30 h computation time on a cluster). However, the 0D Δ P estimates, unsurprisingly, had larger mean errors when compared to catheterization than 3D estimates (12.1 ± 9.9 mmHg vs 5.3 ± 5.4 mmHg). In particular, the 0D model performance degraded in cases where the CoA was adjacent to a bifurcation. The 0D model classified patients with severe CoA requiring intervention (defined as Δ P ≥ 20 mmHg) with 76% accuracy and 3D simulations improved this to 88%. Overall, a combined approach, using 0D models to efficiently tune and launch 3D models, offers the best combination of speed and accuracy for non-invasive classification of CoA severity.

Role of Computed Tomography Angiography in the Short-Term Follow-up of Aortic Coarctation Repair.

INTRODUCTION: Coarctation of the aorta (CoA) is a narrowing of the thoracic aorta that often manifests as discrete stenosis but may be tortuous or in long segment. The study aimed to evaluate pre and post-surgical aspects of pediatric patients submitted to CoA surgical correction and to identify possible predisposing factors for aortic recoarctation. METHODS: Twenty-five patients were divided into groups according to presence (N=8) or absence (N=17) of recoarctation after surgical correction of CoA and evaluated according to clinical-demographic profile, vascular characteristics via computed angiotomography (CAT), and other pathological conditions. RESULTS: Majority of males (64%), ≥ 15 days old (76%), ≥ 2.5 kg (80%). There was similarity between groups with and without recoarctation regarding sex (male: 87% vs. 53%; P=0.277), age (≥ 15 days: 62.5 vs. 82%; P=0.505), and weight (≥ 2.5 kg: 87.5 vs. 76.5; P=0,492). Altered values of aortic root/Valsalva diameter, proximal transverse arch, and distal isthmus, and normal values for aorta prevailed in preoperative CAT. Normal values for the aortic root/Valsalva sinus diameter were observed with and without recoarctation, the same for both groups regarding ascending and descending aorta in postoperative CAT. No significant difference for altered values of proximal transverse arch and alteration in distal isthmus was observed. CONCLUSION: No predictive risk for recoarctation was observed. CTA proved to be important in CoA diagnosis and management, since CoA is mainly related with altered diameter of aortic root/sinus of Valsalva and proximal and distal aortic arch/isthmus, however, it failed to show predictive risk for recoarctation.