Arch Abnormalities Research Articles

Predictors of dental arch abnormalities in children with primary dentition (part two)

Relevance. Assessing the influence of risk factors during the primary dentition period on the development of dental arch abnormalities is essential for planning preventive and therapeutic interventions, as well as encouraging compliance with these measures. The first part of this article focused on identifying predictors of malocclusion, while this second part aims to determine the predictors of dental arch abnormalities.Purpose. To identify prognostic factors (predictors) of dental arch abnormalities in children during the primary dentition period.Materials and methods. This study presents the results of a retrospective analysis of the oral health status of 123 children (55 boys and 68 girls). The initial examination took place when the children were between 4.0 and 5.5 years old (mean age 5.1 ± 0.6 years), with follow-up examinations conducted between the ages of 6.0 and 10.5 years (mean age 8.7 ± 1.3 years). The relationship between risk factors in primary dentition and the development of dental arch abnormalities in early mixed dentition was evaluated using Pearson's chi-squared test (χ2) and Welch's t-test (V). For each pair of "primary dentition risk factor – dental arch abnormality in early mixed dentition," the odds ratio with a 95% confidence interval was calculated.Results. Differentiating predisposing factors and analyzing the effects of their various combinations allowed the identification of predictor clusters in primary dentition, where the probability of developing dental arch abnormalities in mixed dentition exceeds 95%. For upper arch abnormalities, the cluster includes infantile swallowing and early extraction of deciduous molars in the lower jaw (χ2 =19.67, V=0.50); for lower arch abnormalities, the cluster consists of infantile swallowing, "lazy" chewing, sucking habits, and a deep bite in the anterior region (χ2 =16.58, V=0.67); For lower incisor crowding, the cluster includes "lazy" chewing, infantile swallowing, and a deep bite in the anterior region (χ2 =17.54, V=0.63); for diastema in the upper arch, the cluster includes an abnormal labial frenum and interdental tongue position (χ2 =19.16, V=0.49); for maxillary anterior spacing, early extraction of deciduous canines in the upper jaw is the primary factor (χ2 =16.23, V=0.46).Conclusion. Identifying and addressing predictors of dental arch abnormalities in children during the primary dentition period can significantly reduce the risk of developing pathological conditions during the mixed dentition period.

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.

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.

NAA10-related (Ogden Syndrome) and NAA15-related neurodevelopmental syndromes present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. While there is much data on the clinical manifestations of these conditions, there are few radiologic reports describing the neuroanatomical abnormalities present on imaging. Our goal was to provide neuroimaging analyses for a subset of probands with NAA10- and NAA15-related neurodevelopmental symptoms and assess severity, common radiologic anomalies, and changes over time to better understand the pathophysiology of these disease processes. Neuroimaging studies from 26 probands (18 with pathogenic variants in NAA10, 8 with pathogenic variants in NAA15) were collected and analyzed. Size of the cerebrum, brainstem, and cerebellum, as well as myelination, brain malformations, globus pallidus hyperintensity, brain lesions, 4th ventricle size, tegmentovermian angle, cisterna magna size, pituitary size, olfactory tract, palate arch, and choroid plexus abnormalities were analyzed. In depth medical histories were also collected on all probands, including genetic testing results and social, cognitive, and developmental history. The Vineland 3 Adaptive Behavior Scale was also administered to the parents to assess functional status of the probands. On average, individuals with Ogden Syndrome had 5.7 anatomical abnormalities (standard deviation (SD) = 3.0), whereas those with NAA15 related neurodevelopmental syndrome had 2.8 (SD = 2.3) (p = .02). Probands who had more anatomical abnormalities tended to score worse on Vineland assessments, suggesting a possible correlation between the two. Structural-functional anatomic differences seen were preserved such that individuals with greater defects on, for example, motor regions of their scans tested worse on motor portions of the Vineland. Probands followed longitudinally demonstrated several changes between scans, most commonly in the cerebellum, brainstem, and degree of myelination. Such changes were only observed for probands with NAA10 variants in our cohort. Despite clinical imaging being reported as being predominantly "normal" during routine clinical care, this analysis of a cohort of patients with NAA10-related (Ogden Syndrome) and NAA15-related neurodevelopmental syndrome by one neuroradiologist has established a range of subtle abnormalities. We hope these findings guide future research and diagnostic studies for this patient population.

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.

Assessment of foot arch shape and health status of adult population from Eastern Slovakia.

The purpose of this study was to determine the foot arch shape and the associated health status in a selected sample of individuals belonging to the adult majority population of eastern Slovakia and to evaluate which of the observed factors are involved in the occurrence and development of foot arch abnormalities. The weight and height of probands were measured according to standard anthropometric methods using a personal scale and an anthropometer. The BMI index was calculated for each proband from the measured data. A Pod4Foot Classic podoscope was used to obtain the plantograms. The Chippaux-Smirak index method was used to evaluate the plantograms. The study includes a questionnaire containing questions about factors affecting the foot arch shape. The arch of the right foot was supported by the effect of wearing shoes at home (p = 0.013). There was an association between wearing high-heeled shoes and foot arch disorder, both on the right (p = 0.011) and left (p = 0.045) foot. There was no significant relationship between the prevalence of overweight or obesity, between wearing orthopaedic insoles in shoes without a prescription, wearing orthopaedic footwear at home, between sport or static and active work and foot arch disorder in our study. Most of the probands had a bilaterally normal arched foot, which is a positive result. Nowadays, there are a large number of orthopaedic devices on the market that help to shape the arch of the foot properly, but it is not correct to use these devices arbitrarily, without a doctor's prescription and a diagnosis of foot arch deviation.

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.

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.

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.

Which morphological abnormalities better define the elongation of transverse aortic arch: a magnetic resonance angiography study.

The aim of the study is to investigate the relation between morphological abnormalities that might indicate elongation of transverse aortic arch (ETA) and various aortic and thoracic measurements, and to determine which morphological criteria define the elongated transverse arch better. Patients under 40 years of age who underwent contrast enhanced thoracic magnetic resonance angiography were included in the study. Images were evaluated for the presence of morphological arch abnormalities such as late take off (LTO) of left subclavian artery (LSA), flattening of the arch, and kinking at the posterior or anterior contour of the lesser curvature. Various aortic and thoracic measurements, including the distance between the orifices of the left common carotid artery (LCCA) and LSA, were made. Statistical relation between morphological abnormalities and these measurements was analysed. The effect of morphological abnormalities and their combinations on the distance between LCCA and LSA orifices was evaluated by linear regression analysis. Ninety three cases were included in the study. All morphological abnormalities and most of their combinations show statistically significant relation with longer LCCA to LSA distance. The parameters that most affected this distance were combination of flattening with LTO of LSA, anterior kinking and combination of anterior kinking with both flattening and LTO, respectively. Our study showed that the finding which best defines ETA is the combination of LTO and arch flattening. Therefore, we recommend using this combination in the diagnosis of ETA instead of the classical diagnostic criteria including combination of LTO and posterior kinking.

Newborn with Failure to Thrive and Diarrhea.

Newborn with Failure to Thrive and Diarrhea.

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.