Aortic Arch Abnormalities Research Articles

The novel and slowest arterial pressure waves: clinical implications in children with congenital heart disease following cardiovascular surgery.

Certain rhythmic arterial pressure waves in humans and animals have been noticed for over one century. We found the novel and slowest arterial pressure waves in children following surgical repair for CHD, and examined their characteristics and clinical implications. We enrolled 212 children with 22 types of CHD within postoperative 48 h. We monitored haemodynamics (blood pressure, cardiac cycle efficiency, dP/dTmax), cerebral (ScO2), and renal (SrO2) oxygen saturation every 6 s. Electroencephalogram was continuously monitored. Mean blood flow velocity (Vm) of the middle cerebral artery was measured at 24 h. We found the waves with a frequency of ∼ 90 s immediately following surgical repair in 46 patients in 12 types of CHD (21.7%), being most prevalent in patients with aortic arch abnormalities (Aorta Group, n = 24, 42.3%) or ventricular septal defect (Ventricular Septal Defect Group, n = 12, 23.5%). In Aorta and Ventricular Septal Defect Groups, the occurrence of the waves was associated with lower blood pressures, dP/dTmax, cardiac cycle efficiency, ScO2, SrO2, Vm, worse electroencephalogram background abnormalities, higher number of electroencephalogram sharp waves, and serum lactate (Ps <0.0001-0.07), and were accompanied with fluctuations of ScO2 and SrO2 in 80.6% and 69.6% of patients, respectively. The waves observed in children following cardiovascular surgery are the slowest ever reported, occurring most frequently in patients with aortic arch abnormalities or ventricular septal defect. While the occurrence of the waves was associated with statistically worse and fluctuated ScO2 and SrO2, worse systemic haemodynamics, and electroencephalogram abnormalities, at present these waves have no known clinical relevance.

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

BackgroundRight aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognosis for these patients. So far the underlying genetic etiology is still not identified in most RAA patients based on traditional genetic techniques and a problem is still debated whether fetuses with isolated RAA should be referred for CMA. Our study aims to investigate the genetic etiology of fetuses with right aortic arch (RAA) by chromosomal microarray analysis (CMA) and whole exome sequencing (WES) and evaluate the efficacy of CMA in fetal isolated RAA.ResultsAmong these 153 fetuses, 99 (64.7%) with isolated RAA and 54 (35.3%) with non-isolated RAA; 25.5% (39/153) with additional intracardiac anomalies (ICA), and 19.0% (29/153) with extracardiac anomalies (ECA). Tetralogy of Fallot (n = 10) and persistent left superior vena cava (n = 11) are the most common ICA and ECA, respectively. CMA detected 15 clinically significant copy number variations (CNVs) in 14 cases (9.2%); microdeletion of 22q11.21 was the most common pathogenic CNVs (7.8%). The chromosomal abnormalities rate was higher in non-isolated RAA and RAA with ICA groups than in isolated RAA group (16.7% vs. 5.1%; 20% vs. 5.1%, both p < 0.05). From five cases further undergoing WES, a diagnostic variant in MTOR gene (c.7255G > A, de novo) was first reported in prenatal, extending the prenatal manifestation of Smith–Kingsmore syndrome (OMIM: 616638); a clinically relevant variant c.3407A > T in STAG2 was identified, being inherited from the healthy mother. Moreover, the premature birth and termination rates were higher in non-isolated RAA group than in isolated RAA group (11.1% vs. 1.0%; 37.0% vs. 2.0%, both p < 0.01).ConclusionsWe demonstrate that CMA and WES are useful diagnostic tools for fetal RAA, particularly non-isolated RAA, and all fetuses with RAA should be referred for CMA. The data probably aids in prenatal diagnosis and prenatal counseling of fetal RAA.

Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

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

ENOS plays essential roles in the developing heart and aorta linked to disruption of Notch signalling.

eNOS (NOS3) is the enzyme that generates nitric oxide, a signalling molecule and regulator of vascular tone. Loss of eNOS function is associated with increased susceptibility to atherosclerosis, hypertension, thrombosis and stroke. Aortopathy and cardiac hypertrophy have also been found in eNOS null mice, but their aetiology is unclear. We evaluated eNOS nulls before and around birth for cardiac defects, revealing severe abnormalities in the ventricular myocardium and pharyngeal arch arteries. Moreover, in the aortic arch, there were fewer baroreceptors, which sense changes in blood pressure. Adult eNOS null survivors showed evidence of cardiac hypertrophy, aortopathy and cartilaginous metaplasia in the periductal region of the aortic arch. Notch1 and neuregulin were dysregulated in the forming pharyngeal arch arteries and ventricles, suggesting that these pathways may be relevant to the defects observed. Dysregulation of eNOS leads to embryonic and perinatal death, suggesting mutations in eNOS are candidates for causing congenital heart defects in humans. Surviving eNOS mutants have a deficiency of baroreceptors that likely contributes to high blood pressure and may have relevance to human patients who suffer from hypertension associated with aortic arch abnormalities.

The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit.

Previously published studies suggest that genetic or environmental causes can be observed in 20-30% of congenital heart disease (CHD) patients, which include aneuploidy, single gene defects, pathological copy number variations, and de novo autosomal dominant and recessive inheritance. Moreover, the genetic background of childhood cardiomyopathies (CMs) has not been elucidated well. The study highlights the value of genetic assessment in diagnosing and family counseling for CHD and pediatric CM patients referred to the genetic clinic in a pediatric cardiology department. The study involved patients less than 18 years of age attending the cardiogenetic clinic in the pediatric cardiology department between December 2010 and February 2019. The following patient categories who had genetic evaluation were included: CHD in the presence of a syndromic phenotype, patients with CHD having extracardiac congenital anomalies or delayed development, hypertrophic and dilated CM patients, patients with dilated aortic root and ascending aorta,significant CHD in siblings or first-degree relatives,suspected channelopathies; and interrupted aortic arch abnormalities. A total of 285 patients were evaluated in the cardiogenetic clinic. The mean age was 20.2 months, with a range of 0-168. Females and males constituted 153 (53.7%) and 132 (46.3%), respectively. The most commoncause of referral to the genetic clinic was the presence of CM (N=134 (46.3%)): hypertrophic CM in 24% and dilated CM in 20% of cases. Seventy-six patients (26.7%) had positive genetic results. The most common genetic abnormality was familial infantile hypertrophic CM-causing gene ELAC2 in 19 (23.5%) cases. It may be beneficial for any pediatric cardiology unit to provide an established genetic clinic. Using a genetic clinic will enhance understanding of CHD pathophysiology, family education, and genetic counseling. Agreement on a well-written protocol and the way forward to specify what congenital heart conditions require genetic investigation should be clarified.

COMPARATIVE ANALYSIS OF THE FINDINGS OF CT ANGIOGRAPHY AND ECHOCARDIOGRAPHY IN AORTIC ARCH ANOMALIES

The retrospective study was conducted in the Department of Cardiology Nishtar Medical Hospital Multan from January 2021 to January 2022 to compare CT angiography and echocardiography findings in patients with aortic arch abnormalities. The study was conducted on a total of 200 patients. Patient data was recorded, including demographic details and CT angiographic and echocardiographic findings. Results showed that Anomalies of coarctation of the aorta (COA) were most commonly reported. The most common anomalies associated with aortic arch anomaly included patent ductus arteriosus (PDA), patent ductus arteriosus (PDA), and ventricular septal defect (VSD). Of 200 patients, 66 (33%) had normal CT results, while 64 (32%) had normal transthoracic ECG results. For aortic arch anomalies, the specificity and sensitivity of TEC were 100% and 58%, and the agreement between CT angiography and TEC was .72 (Kappa coefficient). For COA, the specificity and sensitivity of TEC were 100% and 90%, and agreement in both modalities was 0.93. Transthoracic echocardiography was unable to detect congenital anomalies in a few cases. CT angiography provides better imaging quality and anatomical coverage and can be used to improve diagnostic accuracy.

The prenatal diagnosis and prognosis of fetal right aortic arch and double aortic arch malformation: A single-center study.

This study aimed to characterize the pathological types, diagnosis, chromosomal abnormalities, and postnatal clinical manifestations of right and double aortic arch malformations in fetuses. In this retrospective study, all fetuses diagnosed with right or double aortic arch anomalies for whom conventional two-dimensional echocardiography combined with spatio-temporal image correlation was performed at our tertiary referral center between December 2012 and December 2021 were included. In total, 234 fetuses with aortic arch abnormalities were identified. Forty-one cases lost to follow-up. One hundred ninety-three cases were included in this study. One hundred eighty-seven cases with right aortic arch. Six cases with double aortic arch. Most cases of right aortic arch with aberrant left subclavian artery (77/101, 76.2%) were isolated lesions, whereas most of those with mirror-image branching (45/75, 60%) were associated with intracardiac or extracardiac anomalies. Chromosomal abnormalities were screened prenatally in 113 fetuses with right aortic arch, among whom three with aberrant left subclavian artery (3/63, 4.8%) and eight with mirror-image branching (8/50, 16%) had chromosome anomalies (p < 0.05). Furthermore, three cases had microdeletion 22q11.2 and these were significantly associated with intracardiac malformations. Most cases of isolated right aortic arch do not present with clinical symptoms except isolated left subclavian artery and isolated left brachiocephalic trunk. In addition, the risk of chromosomal abnormalities in patients with isolated right aortic arch is very low. We recommend that pregnant women should be informed of the risks and benefits of undergoing invasive prenatal chromosomal detection.

Prevalence and Clinical Implications of Incidental Aortic Arch Abnormalities on Contrast-Enhanced Neck MR Angiography: A Single-Center Experience.

Background and Objectives: Vascular abnormalities within the anatomical coverage are frequently encountered in imaging studies. The aortic arch is often overlooked as an anatomical blind spot, especially in neck magnetic resonance (MR) angiography. This study investigated the prevalence of incidental aortic arch abnormalities. We also estimated the potential clinical significance of aortic arch abnormalities as blind spots detected on contrast-enhanced neck MR angiography. Materials and Methods: Between February 2016 and March 2023, 348 patients were identified based on contrast-enhanced neck MR angiography reports. The clinical and radiological characteristics of the patients and the presence of additional imaging studies were assessed. The aortic arch abnormalities and coexisting non-aortic arterial abnormalities were classified into two categories according to their clinical significance. We performed the χ2 test and Fisher's exact test for group comparisons. Results: Of the 348 study patients, only 29 (8.3%) had clinically significant incidental aortic arch abnormalities. Among these 348 patients, 250 (71.8%) and 136 (39%) had intracranial and extracranial abnormalities, respectively; the clinically significant intracranial abnormalities in the two groups were 130 lesions (52.0%) and 38 lesions (27.9%), respectively. In addition, there was a significantly higher tendency of clinically significant aortic arch abnormalities (13/29, 44.8%) in the patients who had clinically significant coexisting non-aortic arterial abnormalities than in the other group (87/319, 27.3%) (p = 0.044). The patient groups with clinically significant intracranial or extracranial arterial abnormalities had higher rates of clinically significant aortic abnormalities (31.0% and 17.2%), but there was no statistical significance (p = 0.136). Conclusions: The incidence of clinically significant aortic arch abnormalities was 8.3% on neck MR angiography, with a significant association between aortic and coexisting non-aortic arterial abnormalities. The findings of this study could improve the understanding of incidental aortic arch lesions on neck MR angiography, which is of crucial clinical importance for radiologists to achieve accurate diagnoses and management.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

Arteria lusoria with patent foramen ovale: clinical and embryological significance with literature review.

A 73-year-old female donated cadaver had an unusual origin of the right subclavian artery (RSA), which is usually known as 'Arteria lusoria' (AL) or "Aberrant Right Subclavian Artery" (ARSA). This artery originated as the fourth and most extreme left branch from the arch of the aorta (AOA), distal to the origin of the left subclavian artery (LSA), and traversed obliquely upwards, towards the right side posterior to the oesophagus, heading for the thoracic inlet. The brachiocephalic trunk (BCT) was absent. The right common carotid (RCCA), left common carotid (LCCA), LSA and ARSA were four branches that originated from the aortic arch and ran from right to left. The course and distribution of these branches were normal. On opening the right atrium, a patent foramen ovale (PFO) was observed in the upper part of the interatrial septum. As far as we know, this is the first cadaveric case report of arteria lusoria with the presence of an atrial septal defect in the form of a PFO. Early diagnosis of aortic arch abnormalities using diagnostic interventions is beneficial for identifying risk factors after invasive procedures.

The potential of 1.5 T magnetic resonance imaging for the evaluation of fetal anomalies of the great vessels.

To determine the efficacy of 1.5 T magnetic resonance imaging (MRI) for the diagnosis of anomalies of the fetal great arteries with comparison to fetal ultrasound, and to compare image quality between 1.5 T and 3.0 T MRI in fetal imaging of the great arteries. We compared the results of postnatal exam or surgery and evaluated the application value of prenatal 1.5 T MRI in the assessment of fetal great-vessel anomalies. To further determine the diagnostic potential of 1.5 T MRI, 23 pregnant women with suspected fetal cardiovascular abnormalities who had undergone ultrasound and 3.0 T MRI were enrolled and compared, respectively. Prenatal MRI was superior to ultrasound in demonstrating aortic arch and branch abnormalities (sensitivity, 92.86% vs. 83.33%; specificity, 66.67% vs. 20%). The mean quality ratings for fetal MRI at 1.5 T was higher than 3.0 T (P < 0.001). Other than the fast scan speed afforded by 3.0 T MRI, the signal noise ratio (SNR) of 1.5 T MRI were higher than those of 3.0 T MRI; however, the difference in contrast to noise ratio (CNR) between the two imaging modalities was not statistically significant. 1.5 T MRI can achieve an overall assessment of fetal great-vessel anomalies, especially aortic arch and branch abnormalities. Therefore, 1.5 T MRI can be considered a supplementary imaging modality for the prenatal assessment of extracardiac great vessels malformations.

Risk factors for target vessel endoleaks after physician-modified fenestrated or branched endovascular aortic arch repair: A retrospective study.

Fenestrated or branched endovascular aortic arch repair (fb-arch repair) is an effective option for treating complex aortic arch lesions, including thoracic aortic aneurysms and aortic dissections. However, the relatively high rate of re-intervention due to target vessel (TV)-related endoleaks have raised concerns. This study aimed to determine risk factors for TV-related endoleaks after fb-arch repair. This was a retrospective analysis of all patients undergoing fb-arch repair between 2017 and 2021in nanjing drum tower hospital of China. All the patients underwent computed tomography angiography (CTA) before surgery; at discharge; and at 3 months, 6 months, and yearly post-discharge. All procedures are performed with physician modified grafts. Two experienced vascular surgeons used CTA and vascular angiography data to assess endoleaks. The study endpoints were mortality, aneurysm rupture, and emergence of and re-intervention for TV-related endoleaks. During the follow-up period, 218 patients underwent fb-arch repair. There were seven perioperative deaths and four deaths during follow-up (two myocardial infarctions and two malignancies). There were nine additional patients who were excluded from the study (two strokes, three with abnormal aortic arch anatomy, and four with insufficient clinical data). Among the 198 patients considered (mean age, 59 ± 13.3 years; 85% male), 309 branch arteries were revascularized. A total of 35 TV-related endoleaks were identified in 28 patients during a mean follow-up of 23 ± 14 months (median 23, IQR 26.3): six type Ic, 4 type IIIb, and 20 type IIIc endoleaks. Patients in the endoleak group had greater aortic arch segment diameters (43.1 ± 5.1 vs. 40.3 ± 4.7; P = 0.004) and a greater number of TVs revascularized (2.0 ± 0.8 vs. 1.5 ± 0.8; P = 0.004) than those in the non-endoleak group. However, the morphological classification of the aortic arch did not seem to affect the occurrence of TV endoleaks (13%, 14%, and 15% for type І, II, and III aortic arches, respectively; P = 0.957). Pre-sewing branch stents in the fenestration position reduced the risk of TV endoleaks (5% vs. 14%; P = 0.037). Additionally, in TVs affected by aortic aneurysm or dissection, the risk of endoleaks increased after reconstruction (17% vs. 8%; P = 0.018). The incidence of secondary TV-related endoleaks after fb-arch repair was 14.1%. The data from this study showed that the incidence of secondary target vessel related endoleaks after fb-arch repair is approximately 14.1%. Additionally, patients with a larger aortic arch diameter or more revascularized arteries during surgery were at increased risk TV-related endoleaks. The target vessels originating from the false lumen or aneurysm sac are more prone to endoleaks after reconstruction. Finally, prefabricated branch stents reduced risk of TV-related endoleaks.

Methods for Diagnosing Congenital Anomalies of the Aortic Arch in Children. Advantages and Disadvantages

Congenital heart defects (CHD) account for a third of all congenital malformations and occur in 0.7-1.7% of newborns. Congenital anomalies of the aortic arch (CAAA) are structural abnormalities that affect the development of the aorta and its branches. Congenital anomalies of the aortic arch is very important to diagnose in the neonatal period, as early diagnosis and proper treatment are key factors in improving the long-term prognosis. The purpose of this review was to study methods for detecting aortic arch abnormalities in infants in order to increase the sensitivity of screening and diagnostic accuracy. Literature was searched in electronic databases PubMed, MEDLINE, Web of Science, Google Scholar and an electronic library using keywords. The analysis included 20 sources that met the inclusion criteria. CTA exhibits higher sensitivity in detecting extracardiac structural malformations compared to transthoracic echocardiography, and MRI outpaces transthoracic echocardiography in determining the number of shunts, accurately measures myocardial function, and provides isotropic three-dimensional datasets for complex cardiac abnormalities.

ТОРАКОСКОПИЧЕСКОЕ ЛЕЧЕНИЕ ПАЦИЕНТОВ С АТРЕЗИЕЙ ПИЩЕВОДА И ПРАВОЙ ДУГОЙ АОРТЫ: СЕРИЯ КЛИНИЧЕСКИХ НАБЛЮДЕНИЙ

Right aortic arch (RAA) is one of the vascular anomalies associated with esophageal atresia (EA). Surgical treatment of this combination of congenital malformations is difficult. Cases described in this article were identified during surgery and corrected by thoracoscopy through access in the right pleural cavity. This retrospective research was based on the personal experience of a single surgeon who performed surgical interventions for EA in RAA in 9 patients in 3 different sites located in the cities of Irkutsk and Ulan-Ude (both in Russia) and Tashkent (Uzbekistan) over the past 10 years starting Jan. 2012. The postoperative results of treatment were evaluated as well. In all patients, an abnormal aortic arch was detected during surgery. All patients had the most common type C esophageal atresia. The mean weight of patients at the time of surgery was 2383.3±242.4 g (median 2400.0 [2150.0; 2552.0] g). The mean gestational age was 35.1±3.7 weeks (median 36.0 [34.5; 37.5] weeks). Other congenital heart anomalies were observed in 3 (33%) patients: two (22%) ventricular septal defects and a single (11%) tetralogy of Fallot (TOF). All 9 patients underwent thoracoscopic reconstruction of the esophagus through the right hemithorax. The mean surgical intervention duration was 88.9±12.7 min (median 90.0 [80.0; 100.0] min). One lethal outcome (11%) was registered in a patient with TOF and critical pulmonary stenosis. One patient (11%) was diagnosed with an anastomotic leak on the 7th day after the intervention, which closed on its own 7 days after. Two patients (22%) required dilatation of the resulting esophageal stenosis, which required 1 to 2 balloon dilatations performed within one year after the surgery. In the long-term follow-up period, 8 surviving patients (89%) with EA and RAA had their own esophagus preserved, which allowed them to eat independently. Conclusion: EA reconstruction in patients with RAA can be safely performed using the right-sided thoracoscopy.

S2630 Massive Hematemesis: A Case of Esophageal-Subclavian Fistula

Introduction: Esophageal-subclavian fistulae are rare and are most commonly seen as a complication of congenital aortic arch anomalies. We report a case of an esophageal-subclavian fistula in a patient with a right aortic arch with an aberrant left subclavian artery (ALSA), an uncommon anatomical variant that occurs in approximately 1% of the general population. Case Description/Methods: A 76-year-old man with atrial fibrillation, prior pulmonary embolism, and hyperthyroidism with a multinodular goiter presented to an outside hospital (OSH) after being found down at home. He was intubated for acute hypoxic respiratory failure at the OSH, and transferred to our center for resection of the multinodular goiter causing airway compression. His postoperative course was complicated by multiple infections and prolonged intubation. CT imaging incidentally noted a four vessel aortic arch with retroesophageal ALSA. Two months into the hospitalization, he had large volume hematemesis and subsequent cardiac arrest requiring multiple rounds of resuscitation and Blakemore tube placement into the esophagus. Upon deflation of the Blakemore, he coded again and was started on massive transfusion protocol before successfully deflating the device. Emergent endoscopy was notable for clotted blood in the stomach and active, pulsatile bleeding of the proximal esophagus (25 cm), concerning for arterio-esophageal fistula. Thoracic surgery, cardiac surgery, and vascular surgery were consulted; however, given overall poor prognosis and high risk with invasive surgery, no operative intervention was offered. He was ultimately transitioned to comfort care (Figure 1). Discussion: While arterial-esophageal fistulae are rare, it is important to recognize these cases early as they can lead to fatal hemorrhage if not surgically intervened upon. In the case of ALSA, the vessel takes a retroesophageal course and often forms a dilated segment at the proximal end, called a diverticulum of Kommerell, which compresses the esophagus posteriorly. The vascular pressure on the esophagus can ultimately create a fistula. Prolonged use of indwelling devices, such as nasogastric tubes (NGT) and endotracheal tubes (ETT), may create pressure necrosis and erosion of the posterior esophageal wall, thus contributing to fistula formation. While there are currently no guidelines for screening for aortic arch abnormalities, it has been suggested that those with aortic arch abnormalities noted on CT imaging may benefit from avoidance of prolonged use of NGT or ETT.Figure 1.: Endoscopy image showing upper third of the esophagus with profuse, active bleeding.

3D black blood cardiovascular magnetic resonance atlases of congenital aortic arch anomalies and the normal fetal heart: application to automated multi-label segmentation

BackgroundImage-domain motion correction of black-blood contrast T2-weighted fetal cardiovascular magnetic resonance imaging (CMR) using slice-to-volume registration (SVR) provides high-resolution three-dimensional (3D) images of the fetal heart providing excellent 3D visualisation of vascular anomalies [1]. However, 3D segmentation of these datasets, important for both clinical reporting and the application of advanced analysis techniques is currently a time-consuming process requiring manual input with potential for inter-user variability.MethodsIn this work, we present novel 3D fetal CMR population-averaged atlases of normal and abnormal fetal cardiovascular anatomy. The atlases are created using motion-corrected 3D reconstructed volumes of 86 third trimester fetuses (gestational age range 29-34 weeks) including: 28 healthy controls, 20 cases with postnatally confirmed neonatal coarctation of the aorta (CoA) and 38 vascular rings (21 right aortic arch (RAA), 17 double aortic arch (DAA)). We used only high image quality datasets with isolated anomalies and without any other deviations in the cardiovascular anatomy.In addition, we implemented and evaluated atlas-guided registration and deep learning (UNETR) methods for automated 3D multi-label segmentation of fetal cardiac vessels. We used images from CoA, RAA and DAA cohorts including: 42 cases for training (14 from each cohort), 3 for validation and 6 for testing. In addition, the potential limitations of the network were investigated on unseen datasets including 3 early gestational age (22 weeks) and 3 low SNR cases.ResultsWe created four atlases representing the average anatomy of the normal fetal heart, postnatally confirmed neonatal CoA, RAA and DAA. Visual inspection was undertaken to verify expected anatomy per subgroup. The results of the multi-label cardiac vessel UNETR segmentation showed 100% per-vessel detection rate for both normal and abnormal aortic arch anatomy.ConclusionsThis work introduces the first set of 3D black-blood T2-weighted CMR atlases of normal and abnormal fetal cardiovascular anatomy including detailed segmentation of the major cardiovascular structures. Additionally, we demonstrated the general feasibility of using deep learning for multi-label vessel segmentation of 3D fetal CMR images.

Fetal echocardiographic diagnosis of a triad with common embryological origins: Cervical aortic arch, retro‐aortic left innominate vein and coarctation of the aorta

Cervical aortic arch (CAA) and retro-aortic innominate vein (RAIV) are rare entities which can be associated with one another in a structurally normal heart. Less well recognized is the fact, that a third entity may often be present as well, since aortic arch abnormalities are common in a CAA. Hence, these three entities (CAA, RAIV, and an arch anomaly - in this case a post-ductal coarctation) may present as a triad. We present the first prenatal diagnosis of this rare triad which can be explained by common embryological origins which are discussed along with instructive aspects in diagnosis and management.

Persistent fifth aortic arch: a single-center experience, case series.

BackgroundPersistent fifth aortic arch (PFAA) is an extremely rare congenital cardiovascular malformation and there is limited data in the literature. The objective of this study is to enhance our understanding and diagnosis of PFAA from echocardiography and computed tomography angiography (CTA) findings, and to evaluate the application of echocardiography in the diagnosis of PFAA.MethodsWe retrospectively reviewed five cases of PFAA diagnosed from October 2016 to September 2019 at the Affiliated Children’s Hospital of Capital Institute of Pediatrics. We described their diagnosis by echocardiography and CTA findings, and medical history.ResultsFive cases of PFAA were identified in the study. Patients aged from 3 to 48 months and weighed from 4 to 12 kg presented different clinical symptoms upon clinical examination. All the patients completed a primary echocardiographic assessment; however, the first two patients were misdiagnosed by echocardiography and was confirmed by supplemental CTA while the other three patients were directly diagnosed by echocardiography. Surgery was necessary for three patients, two of whom accepted and one refused. The other two patients only needed a follow-up assessment, which showed good results.ConclusionsThe clinical manifestation of PFAA in our patient population was atypical, and their diagnosis depended on the use of echocardiography. In the case of uncertainty, the final diagnosis was confirmed by CTA. Although the nomenclature and embryonic origin of PFAA remains controversial, the accurate diagnosis of aortic arch abnormalities and associated malformations are imperative for time-sensitive treatments.

Fluroxypyr-1-methylheptyl ester interferes with the normal embryogenesis of zebrafish by inducing apoptosis, inflammation, and neurovascular toxicity

Fluroxypyr-1-methylheptyl ester (FPMH) is a synthetic auxin herbicide used to regulate the growth of post-emergence broad-leaved weeds. Although acute exposure to FPMH increases the mortality of several fish species in the juvenile stage, the developmental toxicity of FPMH in aquatic vertebrates has not yet been investigated. In the present study, we assessed the developmental toxicity of FPMH using zebrafish models that offer many advantages for studying toxicology. During embryogenesis, survival rates gradually decreased with increasing FPMH concentrations and exposure times. At 120 h post-fertilization, FPMH-exposed zebrafish larvae showed various abnormalities such as small eye size, heart defects, enlarged yolk sac, and shortened body length. The study results confirmed the induction of apoptosis in the anterior body of zebrafish and upregulation of inflammatory gene expression. Further, defects in vascular networks, especially the loss of central arteries and abnormal aortic arch structures, were seen in the fli1:eGFP transgenic zebrafish model. Neurotoxicity of FPMH was examined using mbp:eGFP zebrafish and which displayed compromised myelination following FPMH administration. Our study has demonstrated the mechanisms underlying FPMH toxicity in developing zebrafish that is a representative model of vertebrates.

Altered hemodynamics by 4D flow cardiovascular magnetic resonance predict exercise intolerance in repaired coarctation of the aorta: an in vitro study

BackgroundCoarctation of the aorta (CoA) is associated with decreased exercise capacity despite successful repair. Altered flow patterns have been identified due to abnormal aortic arch geometry. Our previous work demonstrated aorta size mismatch to be associated with exercise intolerance in this population. In this study, we studied aortic flow patterns during simulations of exercise in repaired CoA using 4D flow cardiovascular magnetic resonance (CMR) using aortic replicas connected to an in vitro flow pump and correlated findings with exercise stress test results to identify biomarkers of exercise intolerance.MethodsPatients with CoA repair were retrospectively analyzed after CMR and exercise stress test. Each aorta was manually segmented and 3D printed. Pressure gradient measurements from ascending aorta (AAo) to descending aorta (DAo) and 4D flow CMR were performed during simulations of rest and exercise using a mock circulatory flow loop. Changes in wall shear stress (WSS) and secondary flow formation (vorticity and helicity) from rest to exercise were quantified, as well as estimated DAo Reynolds number. Parameters were correlated with percent predicted peak oxygen consumption (VO2max) and aorta size mismatch (DAAo/DDAo).ResultsFifteen patients were identified (VO2max 47 to 126% predicted). Pressure gradient did not correlate with VO2max at rest or exercise. VO2max correlated positively with the change in peak vorticity (R = 0.55, p = 0.03), peak helicity (R = 0.54, p = 0.04), peak WSS in the AAo (R = 0.68, p = 0.005) and negatively with peak WSS in the DAo (R = − 0.57, p = 0.03) from rest to exercise. DAAo/DDAo correlated strongly with change in vorticity (R = − 0.38, p = 0.01), helicity (R = − 0.66, p = 0.007), and WSS in the AAo (R = − 0.73, p = 0.002) and DAo (R = 0.58, p = 0.02). Estimated DAo Reynolds number negatively correlated with VO2max for exercise (R = − 0.59, p = 0.02), but not rest (R = − 0.28, p = 0.31). Visualization of streamline patterns demonstrated more secondary flow formation in aortic arches with better exercise capacity, larger DAo, and lower Reynolds number.ConclusionsThere are important associations between secondary flow characteristics and exercise capacity in repaired CoA that are not captured by traditional pressure gradient, likely due to increased turbulence and inefficient flow. These 4D flow CMR parameters are a target of investigation to identify optimal aortic arch geometry and improve long term clinical outcomes after CoA repair.