Subclavian Artery Research Articles

Surgical management of pseudoaneurysm after subclavian artery-to-descending aorta bypass in an adult patient with aortic coarctation

BackgroundCoarctation of the aorta is a relatively common congenital heart defect. Various operative techniques have been proposed for aortic coarctation repair, which are tailored to individual patient circumstances. However, regardless of the chosen surgical approach, some patients may develop late thoracic pseudoaneurysms. Repeated surgery with a left thoracotomy increases the risk of lung injury and bleeding due to adhesions and rich collateral blood circulation.Case presentationThe patient underwent subclavian artery descending aortic bypass surgery for coarctation of the aorta at the age of 22 years and developed a pseudoaneurysm 30 years after bypass surgery. From the available surgical options for this condition, we selected total arch replacement using a frozen elephant trunk. The outcomes were excellent.ConclusionsDepending on each patient’s circumstances, revision surgery using the frozen elephant trunk technique can be a viable option.

Surgical approach through the anterior scalene muscle resection for invasive tumours in the supraclavicular fossa (with video).

The supraclavicular fossa contains many vital organs to be preserved, such as the brachial plexus, subclavian artery and vertebral artery. Various surgical methods have been reported. However, no well-standardized surgical procedure has been established. Between 2010 and 2020, we performed 28 surgical treatments of the superior mediastinum and supraclavicular fossa. Of these, we retrospectively reviewed seven cases of supraclavicular invasion using a unified surgical technique in which the anterior scalene muscle was resected, and the inter-scalene triangle was approached. We performed claviculectomy in four cases and a transmanubrial approach in three cases. In all cases, by resecting the anterior scalene muscle, the brachial plexus, subclavian artery and vertebral artery were preserved. There were no critical postoperative complications other than tracheostomy and lymphatic leakage. Median bleeding amount and operative time were 438 (range; 76-1144) ml and 328 (range; 246-615) minutes, respectively. The anterior scalene muscle resection method might be a safe and standardized method for preserving the brachial plexus, subclavian artery and vertebral artery.

An aberrant right subclavian artery in a chronic obstructive airway disease patient

Background: A seventy-six year old man, known hypertensive, presented with chest pain of five years duration, associated with exertional breathlessness, wheeze, cough, leg swelling and fatigue. His chest radiograph showed signs of hyperinflation, and chest computer tomography showed an aberrant right subclavian artery. We discuss the implications of this finding to diagnosis, and clinical management.

Aberrant right subclavian artery – A roadblock for radial interventionalists

ABSTRACT Extreme difficulty was faced while negotiating diagnostic catheter in a septuagenarian hypertensive male undergoing transradial coronary angiography due to the long tortuous course of the aortic arch. Biplane imaging helped in unearthing an aberrant right subclavian artery originating anomalously from the descending thoracic aorta.

Aortic Arch:Embryology and Remodeling

A right aortic arch and aberrant subclavian artery result from an interruption in the remodeling of the pharyngeal arch arteries. We occasionally encounter this anatomical variation during angiography. Patients with disorders such as Down syndrome and congenital heart disease show a high incidence of an aberrant right subclavian artery, and this anomaly can cause symptomatic esophageal or tracheal compression. The root of the aberrant artery may show dilatation(referred to as a Kommerell diverticulum), dissection, intramural hematoma, or rupture necessitating cardiac intervention using a surgical or endovascular approach. Neurointerventionalists should have working knowledge of the anatomy to rapidly understand the anatomy and ensure a safe procedure. A left transradial approach should be considered if prior knowledge of the aberrant subclavian anatomy is available.

Type B aortic dissection in Marfan patients after the David procedure: Insights from patient-specific simulation

ObjectiveAn elevated risk of acute type B aortic dissection exists in patients with Marfan syndrome after the David procedure. This study explores hemodynamic changes in the descending aorta postsurgery. MethodsA single-center retrospective review identified 5 patients with Marfan syndrome who experienced acute type B aortic dissection within 6 years after the David procedure, alongside 5 matched patients with Marfan syndrome without dissection more than 6 years postsurgery. Baseline and postoperative computed tomography and magnetic resonance scans were analyzed for aortic geometry reconstruction. Computational fluid dynamic simulations evaluated preoperative and postoperative hemodynamics. ResultsPatients with acute type B aortic dissection showed lower blood flow velocities, increased vortices, and altered velocity profiles in the proximal descending aorta compared with controls. Preoperatively, median time-averaged wall shear stress in the descending aorta was lower in patients with acute type B aortic dissection (control: 1.76 [1.50-2.83] Pa, dissection: 1.16 [1.06-1.30] Pa, P = .047). Postsurgery, neither group had significant time-averaged wall shear stress changes (dissection: P = .69, control: P = .53). Localized analysis revealed surgery-induced time-averaged wall shear stress increases near the subclavian artery in the dissection group (range, +0.30 to +1.05 Pa, each comparison, P < .05). No such changes were observed in controls. Oscillatory shear index and relative residence time were higher in patients with acute type B aortic dissection before and after surgery versus controls. ConclusionsHemodynamics likely play a role in post–David procedure acute type B aortic dissection. Further investigation into aortic geometry, hemodynamics, and postoperative acute type B aortic dissection is vital for enhancing outcomes and refining surgical strategies in patients with Marfan syndrome.

Gross anatomy of vascular supply and drainage of mammary fat pads in mice models.

This work extensively studied the vasculature of mice mammary fat pads (BALB/c and C57BL/6) with special reference to haematogenous drainage routes. Mammary fat pads were five pairs (first cervical, second and third thoracic, fourth abdominal and fifth inguinal), bilaterally symmetrical, extending laterally and continuously with the subcutaneous fascia. The superficial cervical artery and vein primarily accomplished the blood vasculature of the first mammary fat pad, while the lateral thoracic and external thoracic arteries and veins supplied the second and third mammary fat pads. The superficial cervical vein (found parallel to the superficial cervical artery) drained into the external jugular vein. The lateral thoracic artery and external thoracic artery branched almost at the same level as the axillary artery (branch of subclavian artery), the latter being more medial in position. However, in some specimens, the branching of both arteries appeared to be at the same level, and their origins were indistinguishable. The lateral thoracic vein that was parallel to the lateral thoracic artery drained to the axillary vein close to the drainage of the external thoracic vein. The lateral thoracic, superficial caudal epigastric, iliolumbar and external thoracic arteries and veins vascularized the fourth mammary fat pad and displayed anastomosis among themselves. The iliolumbar vein (found parallel to the iliolumbar artery) drained into the inferior vena cava. The superficial caudal epigastric vein (found parallel to the superficial caudal epigastric artery (SCaEA)) drained into the femoral vein. Unlike humans, the internal thoracic artery and vein did not participate in the vasculature of mammary fat pads. The SCaEA and vein supplied blood and drained the fifth mammary fat pad. The anatomical continuity of the fourth and fifth mammary fat pads provided common drainage for both mammary fat pads. The BALB/c and C57BL/6 mice strains studied did not differ in topography and size of mammary fat pads. The vascular supply and drainage of the mammary fat pads also did not differ in the strains studied. Only minor variations could be noted in the small veins draining into the lateral thoracic vein. Lateral tributaries seen in the terminal end of the lateral thoracic vein were absent in the C57BL/6 mice.

A case of Kommerell diverticulum in adolescence presented with dysphagia

BackgroundKommerell diverticulum (KD) with right aortic arch and aberrant left subclavian artery (ALSCA) is a rare congenital aortic anomaly. To improve organ compression symptoms and avoid rupture of aneurysms in adulthood (19 years old–), surgical treatment is considered the only curative option. However, in childhood (–18 years old), several problems regarding approach and technique selection have been reported. Surgical treatment for KD in infancy (birth–2 years old) has been reported recently, but rarely in adolescence (13–19 years old). We herein report a case of KD in which the patient underwent graft replacement during adolescence. Case presentationA 13-year-old boy was admitted to our hospital presenting with dysphagia and body weight loss. Esophagography showed upper esophageal stenosis caused by extrinsic compression. Contrast-enhanced computer tomography showed saccular aneurysm formation of KD with right aortic arch (RAA) and ALSCA. Elective surgery including KD resection and graft replacement of the descending aorta was performed via right thoracotomy under partial extracorporeal circulation. The ALSCA was reconstructed by graft interposition. No postoperative complication was observed. Follow-up esophagography showed no residual stenosis.ConclusionWe experienced a case of KD with dysphagia and weight loss in adolescence, which was successfully treated with surgery. Graft replacement could be an effective treatment option, facilitating recovery even during the growth period.

Persistent right aortic arch and aberrant left subclavian artery in a dog

A 1.5-year-old male German Shepherd dog was referred to a Teaching Veterinary Hospital with a chronic history of regurgitation and a previous presumptive diagnosis of megaesophagus. An esophagogram showed partial esophageal dilation, suggesting one vascular ring anomaly. Computed tomography identified a persistent right aortic arch (PRAA) and an aberrant left subclavian artery (ALSA). The patient underwent thoracotomy, ligamentum arteriosum ligation, and debridement of the periesophageal region. The ligation of the ALSA was not carried out because the esophagus was observed to be released entirely during the surgical intervention. Therefore, intervention on the subclavian artery was not necessary. Clinical follow-up occurred on seven, 14, and 30 postoperative days. The dog improved, showing only sporadic regurgitations. Clinical history and complementary exams were essential to establish a diagnosis. The liberation of the esophageal transit during surgery contributed to the decision not to perform the ALSA ligation.

Early survival benefit of a low-profile endograft in blunt traumatic aortic injury

ObjectiveThe aim of this study was to demonstrate the safety and effectiveness of a low-profile thoracic endograft (19-23 French) in subjects with blunt traumatic aortic injury. MethodsA prospective, multicenter study assessed the RelayPro thoracic endograft for the treatment of traumatic aortic injury. Fifty patients were enrolled at 16 centers in the United States between 2017 and 2021. The primary endpoint was 30-day all-cause mortality. ResultsThe cohort was mostly male (74%), with a mean age of 42.4 ± 17.2 years, and treated for traumatic injuries (4% Grade 1, 8% Grade 2, 76% Grade 3, and 12% Grade 4) due to motor vehicle collision (80%). The proximal landing zone was proximal to the left subclavian artery in 42%, and access was primarily percutaneous (80%). Most (71%) were treated with a non-bare stent endograft. Technical success was 98% (one early type Ia endoleak). All-cause 30-day mortality was 2% (compared with an expected rate of 8%), with an exact two-sided 95% confidence interval [CI] of 0.1%, 10.6% below the performance goal upper limit of 25%. Kaplan-Meier analysis estimated freedom from all-cause mortality to be 98% at 30 days through 4 years (95% CI, 86.6%-99.7%). Kaplan-Meier estimated freedom from major adverse events, all-cause mortality, paralysis, and stroke, was 98.0% at 30 days and 95.8% from 6 months to 4 years (95% CI, 84.3%-98.9%). There were no strokes and one case of paraplegia (2%) during follow-up. ConclusionsRelayPro was safe and effective and may provide an early survival benefit in the treatment of blunt traumatic aortic injury.

P191 Giant cell arteritis relapses occur in a different arterial territory as compared to diagnosis

Abstract Background/Aims Ultrasonography (US) for diagnosis of large vessel vasculitis (LVV) is a recommended first line diagnostic procedure. We have been running an US led diagnostic pathway in our centre since January 2017. This pathway is also used to diagnose relapsing disease. We present US defined anatomical distribution of relapses in consecutive patients. Methods Patients in whom new and relapsing disease was diagnosed using US were included. Protocolised US examination of the common carotid system (segments of common carotid, external carotid and branches) and those of the subclavian system (segments from origin of subclavian to end of axillary artery and branches) were carried out at diagnosis and relapse. Halo sign in at least two different arteries was needed for establishing new or relapsing disease. Disease characterisation was classified as being in the carotid system, subclavian system, or both. The nature of the disease at relapse was compared to that at diagnosis. Results 279 patients were diagnosed with LVV using US since Jan 2017. 57 (20%) were diagnosed as having a relapse using US. 43/57 (75%) and 28/57 (49%) had involvement of the carotid system at baseline and relapse respectively. 22/57 (39%) and 44/57 (77%) had involvement of the subclavian system at baseline and relapse respectively. A comparison of the disease involvement is as in Figure 1. Conclusion The branches of the common carotid artery (external carotid artery) are commonly involved at diagnosis, but relapse occurs more frequently in the subclavian artery branches. This is especially true when disease affects the carotid system at baseline. The presentation of patients with subclavian system disease is often with only constitutional symptoms and with shoulder girdle pain and stiffness. This may be mistaken for being a polymyalgia rheumatica relapse. It is essential to examine the subclavian system of arteries in patients with LVV before diagnosing polymyalgia rheumatic relapse. Disclosure S. Alanoor: None. G. Ducker: None. C.B. Mukhtyar: None.

Institution of cardiopulmonary bypass in an awake patient for resection of isolated intrathoracic right subclavian artery aneurysm causing near total compression of the trachea

Institution of cardiopulmonary bypass in an awake patient for resection of isolated intrathoracic right subclavian artery aneurysm causing near total compression of the trachea

Efficacy of intentional undersized thoracic endovascular repair for Stanford type B aortic dissection

ObjectiveThoracic endovascular aneurysm repair (TEVAR) is widely used for the treatment of aortic dissection. Endograft oversizing is a risk factor for stent graft-induced new entry tears and retrograde type A aortic dissection. However, there is no clear consensus on the optimal graft size selection for Stanford type B acute or subacute aortic dissection (TBAD). Herein, we examined the safety and efficacy of TEVAR using an intentionally undersized endograft to treat TBAD. MethodsThis retrospective chart review study included 82 patients who underwent TEVAR for acute or subacute Stanford TBAD between 2015 and 2022. We measured the true lumen diameter just distal to the subclavian artery and opted for a stent graft of the same diameter. In instances where deformation resulting from false lumen pressure displacement was pronounced, we measured the diameter at the site just proximal to the subclavian artery. Patients’ characteristics, procedural, in-hospital, and follow-up data, and aortic remodeling were analyzed. The aortic diameter was analyzed using one-way analysis of variance followed by Dunnett’s test. Survival and freedom from reintervention were estimated using Kaplan-Meier curves. ResultsThe follow-up rate was 98.4%. The mean age was 58.3 ± 12.3 years, and 76 were men (92.7%). The mean diameters of the stent graft and native proximal landing zone were 30.9 ± 3.2 mm and 30.8 ± 3.0 mm, respectively. The oversize rate of the stent graft in relation to the native proximal aortic diameter was 0.3% ± 4.7%. In-hospital mortality was observed in one patient, retrograde type A aortic dissection in one patient, distal stent graft-induced new entry tear in zero patients, and type 1a endoleak in 22 patients (26.8%). Type 1a endoleaks, characterized by antegrade false lumen blood flow originating from the primary entry, in 12 patients spontaneously disappeared within 1 year of follow-up. According to aortic remodeling, 59 patients (86.8%) achieved complete aortic remodeling at the aortic arch level and 51 (75.0%) at the eighth thoracic vertebral level. The diameters of the aortic arch and descending aorta were significantly reduced compared with the postoperative measurements (P <.001). Survival rates were 97.5% and 93.6% at 1 and 3 years, respectively. Freedom from reintervention was 84.7% and 84.7% at 1 and 3 years, respectively. ConclusionsIntentionally undersized TEVAR was safe and achieved acceptable aortic remodeling despite a high rate of type 1a endoleaks. A type 1a endoleak was acceptable as it primarily diminished during the mid-term follow-up.

Long-term outcomes of endovascular therapy for right subclavian artery occlusive lesions: A multi-center experience.

To review our multi-institutional experience with endovascular therapy for right subclavian artery occlusive disease and to evaluate the long-term outcomes. We retrospectively evaluated all patients with right subclavian artery stenosis and occlusive disease who underwent endovascular therapy between March 2014 and September 2022 at two institutions. Patient baseline demographics, lesion characteristics, treatment strategies, and in-hospital and follow-up outcomes were prospectively collected and retrospectively analyzed. Between March 2014 and September 2022, 73 patients underwent endovascular treatment at the two institutions. The dominant cause of lesions in this cohort was atherosclerosis. Three different types of lesions were summarized, and the corresponding endovascular strategies were performed. 66 patients (90.4%) underwent successful endovascular treatment, and 62 patients (84.9%) underwent balloon-expandable stent deployment. The mean perioperative in-hospital stay was 4.0days (range, 3-6days). Two patients died due to myocardial infarction, and one died of cerebral hemorrhage resulting from a traffic accident within 30days of the intervention. The median follow-up time was 31.6months (range, 12-96 months). No complications, including death, stroke, stent fractures, or migration, were noted in any patient during the follow-up period. The overall complication rate was 7/73 (9.6%), and 5/7 (6.9%) of the complications required reintervention. Endovascular treatment of right subclavian artery lesions is safe, effective, and technically achievable. The reasonable use of balloon-expandable stents can achieve satisfactory outcomes with accurate orientation and promising patency.

Type I Endoleak Following Covered Stent Graft Placement for Traumatic Subclavian Artery Pseudoaneurysm

AbstractSubclavian artery pseudoaneurysm is an uncommon entity caused by trauma or iatrogenic arterial injury. Endovascular management is the preferred treatment strategy but can be complicated by endoleaks. We report a case of type I endoleak occurring after endovascular covered stent placement to treat a traumatic pseudoaneurysm of proximal left subclavian artery.

Analysis of Aortic Arch Hemodynamics With Simulated Bird's Beak Effects.

The objective of this study was to investigate the flow effects in different degrees of thoracic aortic stent graft protrusion extension by creating bird beak effect simulations using accurate 3D geometry and a realistic, nonlinear, elastic biomechanical model using computer-aided software SolidWorks. Segmentation in 3D of an aortic arch from a computed tomography (CT) scan of a real-life patient was performed using SolidWorks. A parametric analysis of three models was performed: (A) Aortic arch with no stent, (B) 3mm bird-beak configuration, and (C) 6.5mm bird-beak configuration. Flow velocity, pressure, vorticity, wall shear stress (WSS), and time average WSS were assessed. The flow velocity in Model A remained relatively constant and low in the area of the ostium of the brachiocephalic artery and doubled in the left subclavian artery. On the contrary, Models B and C showed a decrease in velocity of 52.3 % in the left subclavian artery. Furthermore, Model B showed a drop in velocity of 82.7% below the bird-beak area, whereas Model C showed a decline of 80.9% in this area. The pressure inside the supra-aortic branches was higher in Model B and C compared with Model A. In Model A, vorticity only appeared at the level of the descending aorta, with low to non-vorticity in the aortic arch. In contrast, Models B and C had an average vorticity of 241.4Hz within the bird beak area. Regarding WSS, Model A, and Model B shared similar WSS in the peak systolic phase, in the aortic arch, and the bird beak area, whereas Model C had an increased WSS by 5Pa on average at these zones. In the present simulations' lower velocities, higher pressures, vortices, and WSS were observed around the bird beak zone, the aortic arch, and the supra-aortic vessels.

Long-term Outcomes of Endovascular Repair for Blunt Thoracic Aortic Injury: A 10 Year Multi-center Experience.

This study aimed to assess the long-term outcomes in patients treated by thoracic endovascular aortic repair (TEVAR) for blunt thoracic aortic injuries (BTAI). From January 2010 to December 2019, this retrospective observational study was conducted at 3 centers, involving 62 consecutive BTAI patients who underwent TEVAR. Computed tomography angiography scans were planned to be conducted at 6 months post-procedure, and annually thereafter. Technical success was achieved in all 62 procedures (100%), which included cases of dissection (n=35, 56.45%), pseudoaneurysm (n=20, 32.26%), and rupture (n=7, 11.29%). Mean injury severity score was 31.66±8.30. A total of 21 supra-arch branches were revascularized by chimney technique, with 12 cases involving the left subclavian artery (LSA) and 9 cases involving the left common carotid artery. In addition, 11 LSAs were covered during the procedure. The in-hospital mortality rate was 1.61% (n=1). The mean follow-up time was 86.82±30.58 months. The all-cause follow-up mortality rate was 3.28% (n=2). Stenosis or occlusion of 3 supra-arch branches (4.92%) was identified at follow-up, with 2 cases (3.28%) requiring re-intervention. No spinal cord ischemia, endoleak, or migration was observed. Despite only including patients with long-term follow-up, this study confirms the long-term safety and effectiveness of TEVAR for BTAI. For young BTAI patients, as the thoracic aorta increases with age, longer follow-up is needed to observe the potential mismatch between the endograft and the aorta. This study confirms the long-term safety and effectiveness of endovascular treatment for blunt thoracic aortic injury (BTAI). For young BTAI patients, as the thoracic aorta increases with age, longer follow-up is needed to observe the potential mismatch between the endograft and the aorta. Through a remarkably extended follow-up period (86.82±30.58 months) conducted at multiple centers in China, this study confirms the long-term safety and effectiveness of endovascular treatment for BTAI.

The Electrified Wire Technique in Complex Aortic Interventions: A Case Series.

Electrosurgery has been long used in endovascular procedures, with only case reports in the aortic field. Our aim is to present a case series with the use of an electrified wire to perform catheter-based electrosurgery by applying external current through an electrocautery pen. Single-center retrospective case series of all patients undergoing complex aortic surgery from October 2020 to August 2023, in whom the electrified wire technique was used: (1) Perforation of a dissection flap or left subclavian artery (LSA) in situ endograft fenestration-a 0.014" polytetrafluoroethylene (PTFE) insulated guidewire is detached from the insulation with a scalpel at the end and a cautery pen is here attached with a clamp. A curved tip catheter or sheath is positioned against the aortic flap or the endograft (through a left brachial access in this case) and the wire pushed, crossing the flap by activating the electrocautery pen and (2) slicing a dissection flap ("powered cheese-wire technique")-after same preparation as above, the middle section of the 0.014 guidewire is removed from the PTFE and bent into a V-shape. Once in the aorta, the guidewire crosses from the true lumen (TL) to the false lumen (FL) and a through-and-through access is obtained. Sheaths are positioned against the flap from both sides and moved up or down while the electricity is activated, slicing the flap and communicating both lumens. Technical success and technical-related complications were evaluated. Eleven cases concerning aortic dissections and 1 case of aortic atresia were treated. Four patients presented urgently, whereas the rest were planned procedures. Seven cases underwent perforation of a dissection flap, 2 cases underwent the powered cheese-wire technique, in 2 cases for an LSA in situ fenestration, and in 1 case to cross an aortic atresia at the aortic isthmus. The technique was in all cases successfully applied. No complications related to the technique occurred. The "electrified wire" technique is a feasible and ready-available tool that can be safely used in complex aortic interventions, especially to perforate aortic tissue like dissection flaps or to perform in situ fenestrated repairs by perforation of the endograft fabric. The electrified wire technique described herein is a straightforward technique that uses readily available tools to perform electrosurgery. We present its use in complex aortic procedures. However, it could be envisioned for any vascular procedure that requires crossing of the vessel or even prosthetic material. As we have described in this series, when used along with an adequate properative planning, it can be a safe tool of great utility, as has already been demonstarted in the field of the interventional cardiology.

Anterolateral thoracotomy with partial sternotomy: a feasible approach for treating the complex pathology of the aortic arch.

Our goal was to review our surgical experiences in patients with complex pathologies of the aortic arch who have undergone anterolateral thoracotomy with a partial sternotomy (ALPS). From October 2019 to November 2023, a total of 23 patients underwent one-stage repairs of complex pathologies of the aortic arch through the ALPS approach. The mean age was 61.9 ± 16.7 years old. The aortic pathologies were as follows: aorta-related infection in 11 (aorto-oesophageal fistula: 4, graft infection: 6, native aortic infection: 1); aortic dissection in 9 including shaggy aorta in 2, non-dissecting aneurysm in 1, and coarctation of the aorta (CoA) in 2. Eighteen patients underwent aortic replacement from either the sinotubular junction or the ascending aorta to the descending aorta; 1 patient underwent it from the aortic root to the descending aorta (redo Bentall procedure and extensive aortic arch replacement); 3 patients underwent it from the aortic arch between the left carotid artery and left subclavian artery to the descending aorta; and 1 patient underwent a descending aortic replacement. Ten patients underwent omentopexy, latissimus dorsi muscle flap installation or both procedures. The hospital mortality rate was 13.0% (3/23). The overall survival and freedom from aortic events were 73.3%±10.2% and 74.1%±10.2%, respectively, at the 3-year follow-up. There was an absence of aorta-related deaths, and no recurrent infections were identified. The short-term outcomes using the ALPS approach for the treatment of complex pathologies of the aortic arch were acceptable. Further studies will be required to determine the long-term results.

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.

Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, newborn or infant with characteristic cardiac findings and subsequently undergo genetic testing. The presence of an aortic arch anomaly with characteristic intracardiac anomalies increases the likelihood that the patient has 22q11.2 DS, but those with an aortic arch anomaly and normal intracardiac anatomy are also at risk. It is particularly important to identify the fetus at risk for 22q11.2DS in order to prepare the expectant parents and plan postnatal care for optimal outcomes. Fetal anatomy scans now readily identify aortic arch anomalies (aberrant right subclavian artery, right sided aortic arch or double aortic arch) in the three-vessel tracheal view. Given the association of 22q11.2DS with aortic arch anomalies with and without intracardiac defects, this review highlights the importance of recognizing the fetus at risk for 22q11.2 deletion syndrome with an aortic arch anomaly and details current methods for genetic testing. To assist in the prenatal diagnosis of 22q11.2DS, this review summarizes the seminal features of 22q11.2DS, its prenatal presentation and current methods for genetic testing.