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

BACKGROUND: Right 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. RESULTS: Among 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). CONCLUSIONS: We 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.

Analysis of prognostic risk factors and development of a predictive model for fetuses with right aortic arch with mirror-image branching: a prognostic evaluation method based on ultrasound parameter features.

Background: Prenatal ultrasound plays a crucial role in the diagnosis and classification of right aortic arch (AO) with mirror-image branching (RAA-MB). The recent research in this area has primarily focused on qualitative diagnosis, neglecting the quantitative analysis of ultrasound factors that impact RAA-MB outcomes. This study used echocardiography to measure prenatal ultrasound parameters for vascular ring and trachea in fetuses with RAA-MB, employing a nomogram model to evaluate factors influencing their prognosis, thereby providing a comprehensive characterization of potential outcomes. Methods: A retrospective case-control study was conducted from March 2019 to March 2023. A systematic gathering of prenatal echocardiograms and clinical data was completed for a cohort comprising 92 cases of fetal RAA-MB at the Ultrasound Medicine Center of Gansu Provincial Maternity and Child Care Hospital. Participant recruitment was executed through random selection from among those receiving outpatient medical care. Within the cohort, 42 cases were categorized as fetuses with isolated RAA-MB, while the remaining 50 cases were characterized as fetuses with RAA-MB and associated anomalies. Measurements were taken of the angle between the right AO and the ductus arteriosus (DA) (AO-DA), the distance between the AO and DA, the diameter of AO and DA, and the distance growth rate (DGR) of the AO-DA distance. Additionally, measurements were taken of the tracheal anterior-posterior diameter, tracheal left-right diameter, and tracheal circumference in the three-vessel tracheal view. In the AO view, measurements were taken of the tracheal cross-sectional area (TA) and the vessel ring cross-sectional area (VRA). The relationship between these parameters and the prognosis of fetuses with RAA-MB was assessed using logistic regression analysis. A receiver operating characteristic (ROC) curve was constructed to evaluate the diagnostic performance of the predictive model based on these factors. Results: The multivariate logistic regression analysis revealed that the independent predictive factors for the prognosis of fetuses with RAA-MB were the AO-DA distance [odds ratio (OR) =0.012], TA (OR =0.401), and VRA (OR =1.103) (all P values <0.001). The area under the ROC curve was 0.891 [95% confidence interval (CI): 0.789-0.914; P<0.001], indicating a high accuracy of the model's predictions. Conclusions: The AO-DA distance, TA, and VRA are factors that influence the prognosis of fetuses with RAA-MB. The column chart model constructed based on these parameters can effectively provide a reference for predicting the risk of adverse outcomes in fetuses with RAA-MB.

CT Angiography for Aortic Arch Anomalies: Prevalence, Diagnostic Efficacy, and Illustrative Findings.

Aortic arch anomalies encompass a diverse spectrum of conditions. Elucidating the prevalence of these anomalies, their impact on patient wellbeing, and the most effective diagnostic tools are crucial steps in ensuring optimal patient care. This paper aims to explore the various presentations of aortic arch anomalies, emphasizing the remarkable utility of computed tomography (CT) angiography in their definitive diagnosis and characterization. We conducted a retrospective study on patients who were submitted to the CT angiography of the thoracic aorta or supra-aortic trunks, or the contrast-enhanced CT scans of the thorax and/or cervical region between January 2021 and February 2024 in our Hospital. Out of the total of 2350 patients, 18 were diagnosed with aortic arch anomalies, with an average age of approximately 55 years. The aortic arch anomalies identified in the study were as follows: left aortic arch with the aberrant origin of the right subclavian artery, right aortic arch (types I and II), double aortic arch, aortic coarctation, aortic pseudocoarctation, and ductus diverticulum. Although often asymptomatic, aortic arch anomalies require recognition and CT using advanced post-processing techniques is the optimal diagnostic method with the ability to also identify other associated cardiac or vascular malformations.

Multiple Major Aortopulmonary Collateral Arteries With Tetralogy of Fallot and Other Congenital Cardiac Disorders Detected in the Fourth Decade: A Report of a Rare Case.

The occurrence of MAPCAs (major aortopulmonary collateral arteries) with TOF (tetralogy of Fallot) and bilateral hypoplastic pulmonary arteries together is a rare condition. Patients are typically middle-aged men who usually present with acute signs of cardiac manifestations. The anomalies have survival up to the fourth decade of life and are fraught with clinical challenges. Additionally, various congenital syndromic associations, such as DiGeorge syndrome, are associated with these anomalies. We report an extremely rare case of a 41-year-old male who came with complaints of chest pain, dyspnea on exertion, and headaches. The patient had a previous history of tuberculosis and a rare combination of MAPCAs with TOF and bilateral hypoplastic pulmonary arteries, with a right-sided aortic arch with an aplastic left subclavian artery. The importance of the case comes from the need to perform surgery on a middle-aged male who was completely asymptomatic prior to this.

Right-Sided Aortic Arch: A Computed Tomography Angiography Investigation, A Systematic Review with Meta-Analysis.

Background/Objectives: The right-sided aortic arch (RAA) is an uncommon variation of the aortic arch (AA), characterized by the aorta crossing over the right main bronchus. In the RAA, the descending aorta can be found on either the right or left side of the spine. The current study comprises a comprehensive retrospective computed tomography angiography (CTA) investigation into the prevalence of the RAA within the Greek population. Additionally, we will conduct a systematic review and meta-analysis to elucidate both common and rare morphological variants of the RAA. This research is significant as it sheds light on the prevalence and characteristics of the RAA in a specific population, providing valuable insights for clinical practice. Methods: Two hundred CTAs were meticulously investigated for the presence of a RAA. In addition, the PubMed, Google Scholar, and Scopus online databases were thoroughly searched for studies referring to the AA morphology. The R programming language and RStudio were used for the pooled prevalence meta-analysis, while several subgroup analyses were conducted. Results: Original study: A unique case of 200 CTAs (0.5%) was identified with an uncommon morphology. The following branches emanated from the RAA under the sequence: the right subclavian artery (RSA), the right common carotid artery (RCCA), the left common carotid artery (LCCA), and the left vertebral artery (LVA) in common origin with the aberrant left subclavian artery (ALSA). The ALSA originated from a diverticulum (of Kommerell) and followed a retroesophageal course. Systematic Review and Meta-Analysis: Sixty-two studies (72,187 total cases) met the inclusion criteria. The pooled prevalence of the RAA with a mirror-image morphology was estimated at 0.07%, and the RAA with an ALSA was estimated at <0.01%. Conclusions: AA anomalies, specifically the RAA, raise clinical interest due to their coexistence with developmental heart anomalies and possible interventional complications. Congenital heart anomalies, such as the Tetralogy of Fallot and patent foramen ovale, coexisted with RAA mirror-image morphology.

A case of right aortic arch type II combined with Kommerell's diverticulum and left innominate vein beneath the aortic arch.

The combination of the right aortic arch and aberrant left subclavian artery (ALSA) with Kommerell's diverticulum (KD) is rare to coexist with the left innominate vein (LINV) beneath the aortic arch. It escalates the surgical risk undoubtedly and increases the difficulty of clinical procedures. We report one case diagnosed by Ultrasound and Computed Tomography Angiography (CTA).

Right-Sided Aortic Arch With Isolated Left Subclavian Artery, Subclavian Steal Syndrome, and Right Bronchial Compression: A Case Report.

A right-sided aortic arch with an isolated left subclavian artery represents a rare anatomical variant, posing diagnostic challenges and clinical complexities. Here, we present a case of a 14-year-old male presenting with respiratory symptoms, unveiling a right-sided aortic arch with an isolated left subclavian artery. Through detailed clinical evaluation, radiographic imaging, and diagnostic modalities including chest radiography, computed tomography angiography, ultrasound, and time-of-flight magnetic resonance angiography, the anatomical features and associated complications were delineated. The discussion encompasses embryological underpinnings, clinical manifestations, and therapeutic considerations, shedding light on the rarity and clinical implications of this anomaly.

Case Report: Right aortic arch with isolation of left brachiocephalic artery and ventricular septal defect.

Right aortic arch with isolation of left brachiocephalic artery is a rare congenital aortic arch anomaly. Herein, we reported a case of this rare anomaly with ventricular septal defect in a 9-month-old infant. We successfully reconstructed the islolated left brachiocephalic artery and repaired the ventricular septal defect in one stage.

Prenatal echocardiography diagnosis of a novel combination of bilateral ductus arteriosus and cardiovascular anomalies: a case report and literature review.

Background: Bilateral ductus arteriosus (BDA) is a relatively rare vascular malformation. According to the double arch theory, BDA is formed when the distal ends of the sixth pairs of primitive arches on the left and right sides have not regressed. We describe a fetus with prenatal echocardiographic findings of BDA and right aortic arch mirror-image branching (RAA-MIB) combined with congenital heart disease. Furthermore, to gain a deeper understanding of the embryological mechanism of BDA, we review the literature on all combinations of BDA present in 40 fetuses/infants. Case summary: A 22-year-old female patient underwent fetal echocardiography at 23 weeks of gestation. Both the two-dimensional (2D) grayscale image and color Doppler flow imaging (CDFI) revealed dextro-transposition of the great arteries combined with a ventricular septal defect and RAA-MIB. The following scan revealed a rare vascular ring, which was identified as BDA extending from the confluent of the left pulmonary artery and right pulmonary artery, completely encircling the trachea to form an "O"-shaped vascular ring before finally converging into the descending aorta. A persistent left superior vena cava was also observed. We subsequently used four-dimensional (4D) color Doppler imaging with the spatiotemporal image correlation (STIC) HD live flow and STIC HD live flow silhouette mode to clearly display ventricular arterial connectivity and the direction of vessel travel. Adjusting the image quality and display angle is very important when applying STIC. The 4D images confirmed our diagnosis. After multidisciplinary counseling and discussion with her family, this female patient decided to terminate the pregnancy. Conclusion: Our review of the literature summarized nine combinations classified into three types of BDA and aortic arch pathology. However, our case differs because it is a novel combination of intracardiac structural abnormalities and vascular rings in a fetus. Prenatal ultrasound diagnosis of BDA is important and requires a combination of 2D grayscale, CDFI, and STIC images to assist in scanning.

Navigating the Unexpected: Right Aortic Arch Unveiled During Left Heart Catheterization.

A right aortic arch (RAA) is an extremely rare congenital anomaly with seven identified variants. While most variants are asymptomatic, those with a vascular ring can be associated with severe symptoms. We present an incidental RAA finding during left heart catheterization (LHC) in a 68-year-old female with multiple morbidities presented with worsening angina. Her echocardiogram was significant for inferolateral wall akinesia, prompting LHC. The procedure was challenging with an unexpected course of the guide wire distally behind the cardiac shadow. Pressure tracing confirmed arterial access and contrast injection revealed RAA. A subsequent aortic computed tomography angiography (CTA) confirmed RAA with mirror-image branching. Abnormal origin and angle of aortic arch branches pose challenges in choosing the proper access. We used the right radial artery approach, but the left radial approach may be superior in providing a more proximal access and avoiding the abnormal origin of the right subclavian artery (RSA). Choosing the appropriate angiographic view is also of utmost importance, and the right anterior oblique view provided better visualization in our case. Aortic arch anomalies are confirmed by a CTA or magnetic resonance angiography (MRA) of the aorta. This case underscores the importance of identifying the aortic arch anomalies and the imposed challenges during the LHC.

Advances in Minimally Invasive Procedures of the Thoracic Cavity.

Significant advances in veterinary minimally invasive surgeries and procedures have occurred in the past 10 years. These advances have been allowed due to continual research into optimizing working space through one-lung ventilation techniques and carbon dioxide insufflation. Additionally, minimally invasive surgery enthusiasts have joined forces with interventionalists and, in many cases, physicians to push the boundaries, minimize pain, suffering, and time away from owners with advances in a variety of procedures. Several larger multi-institutional retrospective studies on various disease processes allow veterinarians and owners to understand that minimally invasive approaches allow for outcomes comparable to traditional open surgery and, in some cases, may now be considered the standard of care in canine and feline patients.

Dysplastic aberrant left subclavian artery originating from a thoracic intersegmental artery associated with a right aortic arch.

PURPOSE: A right aortic arch (RAA) is a rare vascular anomaly that often coexists with an aberrant left subclavian artery (ALSA). Due to the rarity of RAA, the development of an ALSA is not well understood. METHOD: We describe a case in which a 58-year-old man who was scheduled to undergo posterior decompression and fusion surgery for thoracic ossification of the posterior longitudinal ligament from Th1 to Th3 was found to have a RAA and an ALSA. RESULTS: Preoperative computed tomography angiography demonstrated a RAA and an ALSA. The ALSA was extremely tortuous and ran in the paraspinal muscles behind the thoracic laminae, which meant it was in the surgical field. The ALSA arose from the descending aorta and bifurcated into the left segmental arteries of Th1 and Th2, and also bifurcated into the left vertebral artery, which had a normal subsequent course. The dysplastic ALSA was considered to have developed from the thoracic intersegmental artery. Based on preoperative examination findings, we performed spinal surgery without vessel injury. CONCLUSION: We report a rare case of a dysplastic ALSA that developed from the thoracic intersegmental artery with a RAA. The knowledge of this anomaly provides safety in spinal surgery of the cervicothoracic junction.

Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch.

We aimed to evaluate retrospectively associated anomalies and outcome in prenatal aortic arch anomalies (AAAs). We included ninety patients with aberrant right subclavian artery (ARSA), right aortic arch (RAA) with mirror image branching (RAA-mirror) or aberrant left subclavian artery (RAA-ALSA) and double aortic arch (DAA) between 2011 and 2020. In total, 19/90 (21.1%) had chromosomal anomalies, the highest rate being within the ARSA subgroup (17/46, 37%). All (13/13) of the RAA-mirror subgroup, 10/27 (37.0%) of RAA-ALSA, 13/46 (28.3%) of ARSA and 0/4 within the DAA subgroup had additional intracardiac anomaly. The rate of extracardiac anomalies was 30.7% in RAA-mirror, 28.3% in ARSA, 25.0% in DAA and 22.2% in the RAA-ALSA subgroup. A total of 42/90 (46.7%) had isolated AAAs: three (7.1%) with chromosomal anomalies, all trisomy 21 (3/26, 11.5%) within the ARSA subgroup. Out of 90, 19 (21.1%) were lost to follow-up (FU). Two (2.2%) intrauterine deaths occurred, and six (6.7%) with chromosomal anomalies terminated their pregnancy. In total, 63 (70.0%) were liveborn, 3/63 (4.8%) with severe comorbidity had compassionate care and 3/60 (5.0%) were lost to FU. The survival rate in the intention-to-treat cohort was 53/57 (93%). Forty-one (77.4%) presented with vascular ring/sling, two (4.9%) with RAA-ALSA developed symptoms and one (2.4%) needed an operation. We conclude that intervention due to vascular ring is rarely necessary. NIPT could be useful in isolated ARSA cases without higher a priori risk for trisomy 21 and after exclusion of other anomalies.

Right-sided aortic arch with isolation of the left innominate artery and hypoplasia of the left internal carotid artery.

PURPOSE: Here, we report a case of the right-sided aortic arch with isolation of the left innominate artery and hypoplasia of the left internal carotid artery. METHODS: A 42-year-old male patient underwent a whole-body computed tomography angiography (CTA) examination upon the clinical suspicion of vasculitis. RESULTS: CTA revealed a right-sided aortic arch with the isolation of the left innominate artery and hypoplasia of the left internal carotid artery. CONCLUSION: The right-sided aortic arch, with the isolation of the left innominate artery, is a scarce vascular variation that may occur with other cardiovascular anomalies such as ventricular septal defect. It can be asymptomatic or can present with symptoms of subclavian steal syndrome. Although its association with the agenesis of the left internal carotid artery has been reported, its association with the hypoplasia of the left internal carotid artery has not been reported previously to the best of our knowledge.

[Right-sided upper lobectomy in a patient with right aortic arch: a case report and literature review]. / Verkhnyaya lobektomiya sprava u patsienta s pravostoronnei dugoi aorty: sluchai iz praktiki s kratkim obzorom literatury.

A right aortic arch is an anomaly of prenatal development characterized by location of aortic arch to the right from tracheal-esophageal complex. This variant of anatomy is usually asymptomatic and diagnosed accidentally. We performed open upper lobectomy for cancer of the upper lobe of the right lung in a patient with aortic arch dextraposition. Classical right-sided upper lobectomy in patients with right aortic arch is associated with certain difficulties. The most difficult objective is total excision of lymph nodes because trachea is hidden under aortic arch. A specific complication may be postoperative hoarseness associated with iatrogenic damage to the right recurrent laryngeal nerve.

Perioperative and Anesthetic Considerations in Vascular Rings and Slings.

Vascular rings represent an increasingly prevalent and diverse set of congenital malformations in which the aortic arch and its primary branches encircle and constrict the esophagus and trachea. Perioperative management varies significantly based on the type of lesion, its associated comorbidities, and the compromise of adjacent structures. Multiple review articles have been published describing the scope of vascular rings and relevant concerns from a surgical perspective. This review seeks to discuss the perioperative implications and recommendations of such pathology from the perspective of an anesthesia provider.

Increased Pulmonary-Aortic Interspace in Fetal Right Aortic Arch: A Matched Case-Control Study.

INTRODUCTION: The prenatal detection rate of a right aortic arch (RAA) has increased with the implementation of the three-vessel view (3VV) to the second-trimester anomaly scan formed by the pulmonary artery (PA), aorta (Ao), and superior vena cava (SVC). We examined the value of measuring the distance between PA and Ao in the 3VV in cases with an RAA. METHODS: We conducted a case-control study in which fetuses with an isolated RAA were matched to 3 healthy controls. Using 3VV images, the distances between PA, Ao, and SVC were measured and the ratio between PA to Ao (PAAo) distance and Ao to SVC (AoSVC) distance was calculated. RESULTS: Fifty-four RAA cases and 162 matched controls were included. The mean absolute distance PAAo was 3.1 mm in cases and 1.8 mm in controls (p < 0.001), and the mean PAAo/AoSVC ratio was 2.9 and 1.4, respectively (p < 0.001). The ROC curve of PAAo/AoSVC ratio showed a cut-off point of 1.9 with sensitivity and specificity over 87% for the diagnosis of RAA. CONCLUSIONS: The pulmonary-aortic interspace and the PAAo/AoSVC ratio were significantly larger for RAA cases as compared to controls. If an increased pulmonary-aortic interspace is observed, a PAAo/AoSVC of ≥1.9 can be helpful in the diagnosis of an RAA.

Surgical treatment for right-side aortic arch concomitant with Kommerell's diverticulum: techniques selection and follow-up results.

BACKGROUND: Right-side aortic arch concomitant with Kommerell's diverticulum (KD) is a rare and complex ailment, and there is no consensus on the optimal strategy to deal with this congenital anomaly. We retrospectively analyzed and summary of the cases treated in our center with individual treatment methods for different situations. METHODS: Between September 2018 and December 2021, 10 patients experienced surgical therapy at our institution who presented with a Kommerell's diverticulum arising from an aberrant subclavian artery from the right-side aortic arch. Four main surgical techniques were applied to those patients: 1. total arch replacement with frozen elephant trunk implantation (n = 2); 2. hybrid procedure combining open arch repair and endovascular intervention (n = 1); 3. total endovascular repair using thoracic endovascular aortic repair (TEVAR) with or without left subclavian artery (LSCA) revascularization (n = 6); 4. direct repair underwent endoaneurysmorrhaphy. Clinical characteristics and outcomes were collected. RESULTS: The mean age of these 10 patients was 56.5 years (range 29-79 years) and only 1 woman. The pathology includes aortic dissection (n = 6) and aneurysm (n = 4). The mean diverticulum size was 41.4 [24.2-56.8] mm. There were no in-hospital deaths, and the median hospital stay was 22 [15-43] days. During the follow-up period (21.4 months, 1-44 months), one died of an unknown cause and one died of esophageal fistula. Two patients underwent second-stage endovascular intervention for distal lesion. And none of the patients had endoleak during the follow-up period. CONCLUSIONS: Each of the procedures we have mentioned here has its advantages and disadvantages; individualized treatment should meet the appropriate indications. A single-branched stent graft is feasible and effective in the treatment of aortic disease combined with Kommerell's diverticulum.