Down syndrome and aberrant right subclavian artery.
Ontology highlight
ABSTRACT: Down syndrome (DS) may be associated with various organ system disorders. Feeding problems are frequent in children with DS and may be caused by associated defects, including congenital heart defects, gastrointestinal defects, or endocrine disorders. In the absence of these associated conditions, feeding problems are often attributed to general hypotonia. However, an aberrant right subclavian artery (ARSA), a rare vascular anomaly and an unusual cause of problems with the passage of solid food through the esophagus, has recently been suggested to occur more frequently in patients with DS. This knowledge is of importance when evaluating feeding difficulties in patients with DS. Additional investigation for identifying an ARSA may be indicated in selected patients. Diagnostic techniques, such as transthoracic echocardiography, barium contrast esophagram, angiography, or computed tomography-angiography (CT) can be used in a diagnostic flow chart. The presence of ARSA is not synonymous to the cause of feeding problems in patients with DS and corrective surgery of this vascular anomaly should be restricted to selected cases.
Project description:Vascular compression of the esophagus by an aberrant right subclavian artery (aRSA) leading to dysphagia is a rare occurrence. There has been a significant advancement in the diagnostic and surgical treatment modalities available for this disorder. Anesthetic management has evolved too and this case report highlights the anesthetic management of a 41-year-old woman presenting with symptoms of dysphagia because of compression of esophagus by an aRSA, who subsequently underwent re-implantation of aRSA into ascending aorta.
Project description:A 13-year-old spayed female cocker spaniel was presented with a 2-month history of swelling in several digits and intermittent hindlimb lameness. Radiographs revealed marked soft-tissue swelling and periosteal new bone formation without cortical bone destruction, characteristic of hypertrophic osteopathy (HO), in the distal parts of all extremities except for the right forelimb. However, no notable findings were detected in thoracic radiographs. An ultrasonography indicated cranial bladder wall thickening, which resolved following antibiotic therapy. Computed tomographic angiography identified a potential underlying cause as an aberrant right subclavian artery (ARSA) originating from the aortic arch, compressing the esophagus and causing mild esophageal cranial dilation to the aberrant vessel. No other intrathoracic or neoplastic lesions were observed. Gastrointestinal symptoms, such as regurgitation, were absent. Although an ARSA was likely the cause of HO, surgical correction was declined by the owner. To the best of our knowledge, this is the first reported case of HO concurrent with ARSA in dogs.
Project description:Fetal aberrant right subclavian artery (ARSA) is a relatively common sonographic finding. Congenital heart disease (CHD) is the most common structural abnormality in patients with ARSA. We aimed to assess the prevalence of genetic abnormalities, particularly sequence variants, in fetuses with CHD and ARSA. By clinical phenotyping and genomic sequencing, we retrospectively reviewed all fetuses with a prenatal diagnosis of CHD combined with ARSA at a single center. As a result, we identified 30 fetuses with ARSA combined with CHD, with conotruncal anomalies being the most common (n = 12, 40%), followed by left ventricular outflow tract obstruction (n = 6, 20%) and atrioventricular septal defects (n = 6, 20%). Overall, 18 (60%) cases had a genetic diagnosis. Copy number variation sequencing analysis identified six (20%) fetuses with aneuploidy and seven (23%) with pathogenic copy-number variants. Whole-exome sequencing (WES) analysis of the remaining 17 cases revealed diagnostic genetic variants in five (29%) cases, indicating that the diagnostic yield of WES for the entire cohort was 17% (5/30). Our findings reveal the high burden of genetic abnormalities in fetal CHD with ARSA. Single-gene disorders contribute substantially to the genetic etiology of fetal CHD with ARSA.
Project description:Dysphagia lusoria occurs due to compression of the esophagus as an aberrant right subclavian artery (ARSA) crosses the mediastinum. Surgical management includes open, hybrid, and endovascular techniques, with no consensus gold standard. There are few reports of robotic-assisted ARSA resection. We describe the innovative technique and outcomes for two patients who successfully underwent robotic-assisted transthoracic resection of an ARSA after right carotid-subclavian bypass for dysphagia lusoria. Both patients experienced improvement or resolution of their dysphagia and no major complications. In select patients with a noncalcified origin of the ARSA without aneurysmal degeneration, the robotic-assisted approach represents a viable option.
Project description:The retroesophageal aberrant right subclavian artery (ARSA) is a variation of the aortic arch that occurs asymptomatically in most patients. However, when symptomatic, it is most commonly associated with dysphagia. ARSA has also been noted as a location of potentially severe aneurysms in some patients, as well as posing a risk during surgical interventions in the esophageal region. This case study analyzes two individuals with ARSA morphology in comparison to a normal sample in order to gain a better anatomical understanding of this anomaly, potentially leading to better risk assessment of ARSA patients going forward. The diameter of the ARSA vessel was found to be substantially larger than both the right subclavian artery and brachiocephalic trunk of the subjects with classic aortic arch anatomy. As many ARSA individuals are asymptomatic, we hypothesize that the relative size of the ARSA may dictate its contribution to the presence and/or severity of associated symptomatology.
Project description:PurposeThis study aimed to develop and validate a convolutional neural network (CNN) that automatically detects an aberrant right subclavian artery (ARSA) on preoperative computed tomography (CT) for thyroid cancer evaluation.Materials and methodsA total of 556 CT with ARSA and 312 CT with normal aortic arch from one institution were used as the training set for model development. A deep learning model for the classification of patch images for ARSA was developed using two-dimension CNN from EfficientNet. The diagnostic performance of our model was evaluated using external test sets (112 and 126 CT) from two institutions. The performance of the model was compared with that of radiologists for detecting ARSA using an independent dataset of 1683 consecutive neck CT.ResultsThe performance of the model was achieved using two external datasets with an area under the curve of 0.97 and 0.99, and accuracy of 97% and 99%, respectively. In the temporal validation set, which included a total of 20 patients with ARSA and 1663 patients without ARSA, radiologists overlooked 13 ARSA cases. In contrast, the CNN model successfully detected all the 20 patients with ARSA.ConclusionWe developed a CNN-based deep learning model that detects ARSA using CT. Our model showed high performance in the multicenter validation.
Project description:Right aortic arch with Kommerell's diverticulum is a very rare situation. Surgical treatment is recommended for symptomatic patients or asymptomatic patients with a large diverticulum. However planning the strategy of operation is difficult without a 3D imaging. We report a case of a 57-year-old man with right aortic arch, Kommerell's diverticulum, and aberrant left subclavian artery. After a 3D-CT imaging, the patient underwent descending aortic replacement without reconstruction of aberrant left subclavian artery. After operation, there was no signs or symptoms of ischemia of the left arm. If the reconstruction of the aberrant subclavian artery was too difficult, closing its orifice is an acceptable decision. It has been found advantageous because of a decrease blood loss and a shorter cardiopulmonary bypass duration. If an ischemia of the arm is noticed, additional reconstruction will have to be considered. 3D-CT imaging was very useful to have a proper orientation and plan for the operative strategy.
Project description:BackgroundMarfan syndrome is a genetic connective tissue disorder that commonly affects the cardiovascular, skeletal, and ocular system. The increased risk of developing thoracic aortic aneurysms that can lead to aortic dissection and rupture is the main source of mortality in these patients. Pregnancy-induced changes can further increase the risk for aortic complications, especially in patients with an aortic root diameter > 45 mm.Case summaryThe case of a 26-year-old female with Marfan syndrome who was lost to follow-up for five years and presented to our department being pregnant at 21 weeks is presented. Echocardiography and cardiovascular magnetic resonance (CMR) showed an aortic root diameter of 55 mm and a large aneurysm of an aberrant right subclavian artery. Following multidisciplinary team discussion, valve-sparing aortic root and ascending aortic replacement was performed at 22 weeks of gestation without any complications. During the remaining pregnancy, the patient had frequent clinical and CMR follow-up investigations showing a mild increased size of the subclavian aneurysm. Uncomplicated caesarean delivery was performed at 35 weeks of gestation, and the subclavian artery aneurysm was successfully treated by interventional embolization.DiscussionAlthough cardiovascular surgery in our patient during pregnancy was uncomplicated, the case illustrates that pre-pregnancy counselling in Marfan patients is recommended to reduce the risk for mother and child.
Project description:BackgroundInjury to the recurrent laryngeal nerve (RLN) is a recognised complication of surgery in the neck. The presence of a non-recurrent laryngeal nerve (NRLN) significantly increases the risks of a nerve injury. Given that NRLNs are strongly associated with vascular abnormalities that can be visualised on preoperative imaging, we describe a case to raise awareness of this association with the aim of reducing the risk of iatrogenic nerve injury.Case descriptionA 61-year-old gentleman was referred by his family doctor with a history of radiating left arm pain and paraesthesia consistent with C6 +/- C7 radiculopathy. The patient failed conservative management, and elected to undergo an anterior cervical discectomy and fusion procedure. Preoperative magnetic resonance imaging (MRI) showed an incidental finding of an aberrant right subclavian artery (ARSA) following a retro-oesophageal path. Surgery was performed with a right sided cervical approach without intraoperative complications; however, the patient had marked dysphonia post-operatively. Assessment by otorhinolaryngology (ORL) concluded that this was most likely secondary to a right NRLN palsy. The patient underwent a vocal fold injection laryngoplasty for temporary vocal fold augmentation, and the voice subsequently recovered and remained asymptomatic at 1-year post-procedure.ConclusionsThis case demonstrated that identification of vascular anomalies associated with NRLNs on preoperative imaging should prompt a left sided cervical approach to avoid a nerve injury during surgery.
Project description:An aberrant right subclavian artery (ARSA) can be overlooked by the conventional method as described by Chaoui et al., due to acoustic shadowing. The aim of this study was to evaluate the feasibility and accuracy of a novel screening method for ARSA by demonstrating the brachiocephalic artery bifurcation, referred to as the "No ARSA" sign. A prospective study conducted at a tertiary care center between 2018 and 2019 included unselected pregnant patients at a median gestational age of 15.1 (14.2-22.1; IQR (inter-quartile range)) weeks, who had been referred for a routine or targeted anomaly scan. All participants were scanned for the presence or absence of ARSA using both the conventional and the novel "No ARSA" methods for validation purposes. A total of 226 unselected patients were enrolled in the study. The "No ARSA" sign was visualized in 218 fetuses (96.5%). In the remaining 8 cases (3.5%), the "No ARSA" sign was not demonstrated. In these fetuses, an ARSA was visualized by the conventional method. The new method exhibited 100% feasibility and was in complete agreement with the conventional method. Intra- and inter-observer agreement was excellent (κ = 1). The results of the study suggest that the "No ARSA" sign is an efficient and reliable screening tool for ARSA.