Branching Pattern Of Aortic Arch Research Articles

Variations in the Branching Pattern of Aortic Arch: An Embryological Correlation

Background: The literature documents variations in the branching pattern of aortic arches. If not identified at the right time, these variations may lead to complications during cardiovascular surgeries or invasive procedures like angiography. Surgeons working around these variations must be well-oriented. Methodology: the present study was conducted on 103 formalin-fixed cadavers, and their branching pattern was noted. Results: We observed five different branching patterns in the arch of the aorta. The classical three-vessel branching pattern was noted in 70.87% of cadavers. The next common pattern was two branches arising from the arch, with the brachiocephalic trunk and left common carotid artery sharing a common origin. The left subclavian artery originated as a separate branch from the arch. Conclusion: Around 30% of Indian individuals may show variant branching patterns of the aortic arch. This should be considered during angiography, aortic instrumentation, supra-aortic thoracic, head and neck surgery, etc. This may prevent possible complications during surgeries. KEYWORDS: Embryology, Intervention, Intersegmental, Variant, Thyroglossal.

Variations in the branching pattern of aortic arch in human fetal heart: A Morphological Study

Variations in the branching pattern of aortic arch in human fetal heart: A Morphological Study

Morphology of the aortic arch branching pattern in raccoon dogs (Nyctereutes procyonoides, Gray, 1834).

Aortic arch (AA) branching patterns vary among different mammalian species. Most previous studies have focused on dogs, whereas those on raccoon dogs remain unexplored. The objective of this study was to describe the AA branching pattern in raccoon dogs and compare their morphological features with those of other carnivores. We prepared silicone cast specimens from a total of 36 raccoon dog carcasses via retrograde injection through the abdominal aorta. The brachiocephalic trunk (BCT) branching patterns were classified based on the relationship between the left and right common carotid arteries. The subclavian artery (SB) branching pattern was examined based on the order of the four major branches: the vertebral artery (VT), costocervical trunk (CCT), superficial cervical artery (SC), and internal thoracic artery (IT). In most cases (88.6%), the BCT branched off from the left common carotid artery and terminated in the right common carotid and right subclavian arteries. In the remaining cases (11.4%), the BCT formed a bicarotid trunk. The SB exhibited various branching patterns, with 26 observed types. Based on the branching order of the four major branches, we identified the main branching pattern, in which the VT branched first (98.6%), the CCT branched second (81.9%), the SC branched third (62.5%), and the IT branched fourth (52.8%). The AA branching pattern in raccoon dogs exhibited various branching patterns with both similarities and differences compared to other carnivores.

Factors associated with the laterality of Cardio-Embolic stroke

ObjectiveUnderstanding the lateralization factors, including the anatomic and hemodynamic mechanisms, is essential for diagnosing cardio-embolic stroke. This study aims to investigate the elements, for the first time together, that could affect the laterality of stroke. MethodsWe performed a monocentric retrospective case-control study based on prospective registries of acute ischemic stroke patients in the comprehensive stroke center of the RWTH University hospital of Aachen for three years (June 2018–June 2021). We enrolled 222 patients with cardioembolic stroke (136 left stroke and 86 right stroke) admitted for first-ever acute ischemic stroke with unilateral large vessel occlusion of the anterior circulation. The peak systolic velocity (PSV) asymmetry of middle cerebral artery (MCA) was assessed by doppler as well as internal carotid artery (ICA) angle, aortic arch (AA) branching pattern and anatomy were assessed by CT-Angiography. ResultsWe found that the increasing left ICA angle (p = 0.047), presence of bovine type AA anatomy (p = 0.041) as well as slow PSV of the right MCA with a value of >15% than left (p = 0.005) were the predictors for left stroke lateralization, while the latter was an independent predictor for the left stroke (OR=3.341 [1.415–7.887]). Inter-Rater Reliability ranged from moderate to perfect agreement. ConclusionThe predictors for left stroke lateralization include the higher values of left ICA angle, presence of the bovine type AA and the slow right MCA PSV.

Does Aortic Arch Anatomy Affect Stroke Laterality in Transcatheter Aortic Valve Implantation?

Background. Current data reveal a predominace of left as opposed to right-sided cerebral strokes after transcatether aortic valve replacement (TAVR). Aortic arch variations might raise the likelihood of cardioembolic particles entering predominantly the left cerebral circulation during catheter tracking and manipulation. Aim. We sought to analyse the impact of aortic arch anatomy on stroke laterality (right vs. left) in patients undergoing TAVR. Methods. All patients who developed a symptomatic, periprocedural left- or right-sided ischemic stroke after TAVR between June 2007 and August 2022 were included in this study. Multislice computed tomography (MSCT) analysis was used to assess aortic arch anatomy, arch configuration (types I–III), arch tortuosity, and the determination of the take-off angles of the supraaortic arteries. Results. The final study cohort comprised 77 patients. Periprocedural ischemic stroke was left-sided in 66.2% of the patients (n = 51) and right-sided in 33.8% (n = 26) (p = 0.006). MSCT analysis revealed a standard aortic arch branching pattern in 70.1% (n = 54) and a common origin of the brachiocephalic and left common arteries (bovine arch anatomy) in 29.9% (n = 23) of the patients. There was no association between the anatomical variations of the aortic arch and stroke laterality p = 0.601 . Frequency of arch configuration types was 15.6% (type I), 74.0% (type II), and 10.4% (type III). There was no correlation between the different types of configuration and the laterality of periprocedural stroke (type I: p = 0.526 , type II: p = 0.585 , and type III: p = 1.000 ). Aortic arch tortuosity and angulation of the supraaortic arteries did also not differ between right- and left-sided strokes. Conclusion. Our data add evidence that there is a significant propensity for left-hemispheric strokes in patients undergoing TAVR. However, MSCT analysis in our cohort did not reveal an association between aortic arch geometry and laterality of stroke.

Anatomical Variations in Aortic Arch Branching Pattern: A Computed Tomography Angiography Study.

Variations in the branching pattern of the aortic arch (AA) are common. Modification of intravascular stents should be considered taking into account these AA branching variations. Identification of supra-aortic branching types and frequencies is important for specialists planning surgery in this region.In endovascular interventions to the AA, aortic stent grafts should be modified according to the variations of the branching patterns of the AA.In any surgical intervention to the region where the supra-aortic branches are located, ignorance of the variations may cause unwanted injuries or complications. In this study, 699 computed tomography angiography (CTA) images were reviewed to investigate AA branching variations using the Horos software (an open-source image viewer). Four groups were constructed based on the number of branches emerging from the aortic arch, which were further divided into subtypes. A total of 699 CTA images from 320 males and 379 females were included in this study. The usual AA branching pattern (type 3b1) was found in 68.5% of the patients. The combined prevalence of other eight branching patterns, designated as variations, was 31.5%. Variation types 1b1, 3b2, and 4b5 were identified in one patient each. Overall, types 2b1 and 2b2 had a prevalence of 28.3%. The type 2b3 variation was observed in 1.6% of the patients. The least common variations were type 4b1 (0.7%) and type 3b2 (0.1%). The identification of variations in AA branching patterns by CTA prior to surgical or endovascular interventions involving the aortic arch is important. Thus, specialists planning interventions in this region need to be aware and have knowledge of atypical aortic branching patterns. Higher prevalence rates of AA branching patterns compared to previous studies were identified in the Turkish population in this study and therefore, a comprehensive, multicenter study is needed to determine the cause of this differential finding.

Morphology of aortic arch branching patterns in the Eurasian Otter (Lutra lutra, Linnaeus, 1758).

In this study, we investigated the aortic arch (AA) branching pattern in the Eurasian otter (Lutra lutra). We performed arterial silicone casting of the AA of 18 Eurasian otters (8 males and 10 females). We analyzed the AA branching pattern at three levels: the AA, brachiocephalic trunk (BCT), and subclavian artery (SB), using different classification methods at each level. We introduced new criteria for classifying the SB branching pattern applicable for Eurasian otter and other carnivores based on the sequence of the four main branches: vertebral artery (VT), internal thoracic artery (IT), costocervical artery (CCT), and superficial cervical artery (SC). In all Eurasian otters, two major branches emerged directly from the AA, i.e., the BCT and left SB. The BCT branched off the left common carotid artery and terminated in the right common carotid artery and right SB in 17 of 18 Eurasian otters; the BCT formed a bicarotid artery in the remaining case. The SBs showed various branching patterns, with the main branching pattern involving branching to the VT and IT at the same position, followed by the CCT and SC. The SB branching pattern in the Eurasian otter differed from that in dogs in that the two first branching arteries were VT and IT, rather than VT and CCT. Here, we present the anatomical characteristics of the AA branching patterns in the Eurasian otter and new analysis methods applicable for comparative studies of other carnivores.

Aortic Arch Variations and Supra-aortic Arterial Tortuosity in Stroke Patients Undergoing Thrombectomy

PurposeUnfavorable vascular anatomy can impede thrombectomy in patients with acute ischemic stroke. The aim of this study was to determine the prevalence of aortic arch types, aortic arch branching patterns and supra-aortic arterial tortuosity in stroke patients with large vessel occlusion.MethodsComputed tomography (CT) and magnetic resonance (MR) images of all stroke patients in an institutional thrombectomy registry were retrospectively reviewed. Aortic arch types and branching patterns of all patients were determined. In patients with anterior circulation stroke, the prevalence of tortuosity (elongation, kinking or coiling) of the supra-aortic arteries of the affected side was additionally assessed.ResultsA total of 1705 aortic arches were evaluated. Frequency of aortic arch types I, II and III were 777 (45.6%), 585 (34.3%) and 340 (19.9%), respectively. In 1232 cases (72.3%), there was a normal branching pattern of the aortic arch. The brachiocephalic trunk and the left common carotid artery had a common origin in 258 cases (15.1%). In 209 cases (12.3%), the left common carotid artery arose from the brachiocephalic trunk. Of 1598 analyzed brachiocephalic trunks and/or common carotid arteries, 844 (52.8%) had no vessel tortuosity, 592 (37.0%) had elongation, 155 (9.7%) had kinking, and 7 (0.4%) had coiling. Of 1311 analyzed internal carotid arteries, 471 (35.9%) had no vessel tortuosity, 589 (44.9%) had elongation, 150 (11.4%) had kinking, and 101 (7.7%) had coiling.ConclusionWith 20%, type III aortic arches are found in a relevant proportion of stroke patients eligible for mechanical thrombectomy. Nearly half of the stroke patients present with supra-aortic arterial tortuosity, mostly arterial elongation.

Computed Tomographic Analysis of Aortic Arch Branching Patterns: Revisited

Branching pattern of aortic arch (AA) has a direct impact on the outcomes of thoracic surgical and angiographic procedures. Since, geographical variations in the branching pattern of AA have been described, this descriptive cross-sectional study describes the AA variations in a Sri Lankan population compared to the available global data. For that, contrast-enhanced computed tomographic studies (CTC) of thorax (n = 219) performed in males (49.3%) and females (50.7%), aged 59 ± 17 years (range: 4 to 96 years), were evaluated. Branching patterns of AA were categorized into seven types as described by Popieluszko et al. Only, four AA types were identified in the study population: type 1 (90%; n = 197), type 2 (n = 10, 4.6%), type 3 (n = 8, 3.7%), and type 6 AA (n = 4; 1.8%). The prevalence of AA variations was 10%. Type 1 AA was the most prevalent pattern in both genders: female, 91%; males, 88.9%. The most prevalent AA variant in females was type 2 (n = 6; 5.4%); males type 3 (n = 5; 4.6%). However, the branching pattern of AA has not demonstrated a significant gender influence (odds: 0.792; 95% CI: 0.327–1.917; p = 0.605). Variations in branching pattern of AA are as high as 10% among Sri Lankans. Thus, an in-depth knowledge on population specific prevalence of AA variants would influence the modifications of surgical approaches and the choice of angiographic catheters to be utilized, which in turn would minimize inadvertent vascular injuries during thoracic surgical and angiographic interventions.

CT Angiographic Study of Anatomical Variations of Aortic Arch Branches in Libyan Patients

The aim of this study is to determine the prevalence of the aortic arch branches variations in Libyan patients. The proportion of each type will be determined. Subjects and methods: This retrospective study was carried out on 229 cancer patients referred to the CT Scan Department for enhanced chest CT scanning. The scans showed that 83% of the patients had classical aortic arch branching patterns, and 17% had aortic arch variations. Bovine arch variation was the most common variation seen, reaching 11.4%, in which brachiocephalic and left common carotid arteries arise from the aortic arch in a common trunk. The prevalence of the left vertebral artery type that originates from the aortic arch was 3.9%. The prevalence of the aberrant right subclavian artery type was 2.6%, and of the aberrant right subclavian artery with common carotid trunk type was 1.74%. No relationship was found between gender and aortic arch branches variations. We conclude that aortic arch branching variations exist and hence, attention must be paid during chest surgical operations/radiological interventions to ensure safe procedure outcomes. Also, a CT scan is a good method to study such variations and the associated branching patterns.

Branching patterns and anatomical variations of human aortic arch in Indian population

Knowledge of the aortic arch branching pattern is important during supra-aortic angiography, aortic instrumentation, thoracic and neck surgery. The aortic arch (AA) is located in the superior mediastinum. In 65–80% of the cases, the three branches arise from the aortic arch, namely, the brachiocephalic trunk (BCT), the left common carotid artery (LCCA), and the left subclavian artery (LSA). The purpose of this study is to describe different branching patterns of the arch of the aorta in Indian subjects. This observational study is based on dissection performed on Sixty embalmed arches of the aorta in adult Indian cadavers (in manuscript it was written as, 20 dissected heart specimens were collected of still-born fetuses) were exposed and their branches examined during cadaveric dissection in the department of Anatomy. The anatomical variations of the arch of the aorta and its branches, its branches at site of origin, and the distance of each branch from the point of origin to the median plane were measured. The usual three-branched pattern of arch of aorta was found in 44 specimens (73.33%). The common trunk for both brachiocephalic trunk and left common carotid artery was present in 11 specimens (18.33%). In 2 specimens (3.33%), the arch gives four branches. In 1 specimen (1.67%), give three branches. The wide spectrum of variations in the anatomical arrangement of the human aortic arch and its branches offer valuable information to catheterize the aortic arch and its branches for safely performing endovascular surgery. These anatomical and morphologic variations in the arch of the aorta and its branches are significant for diagnostic and surgical procedures in the thorax, head and neck regions.

Anatomical variations of the aortic arch branching pattern using CT angiography: a proposal for a different morphological classification with clinical relevance.

The aortic arch (AA) branching pattern variations are usually asymptomatic, but they may lead to complications during cardiovascular procedures. In this retrospective study, we aimed to analyze the frequency of anatomical variations of the AA and to develop a different approach of morphological classification based on radiological criteria. 1026 computed tomography angiography scans of adults were evaluated and the presence of left-sided (LAA) and right-sided (RAA) AA were determined in 1023 (99.71%) and 3 (0.29%) of patients, respectively. According to the number of branches, LAA branching pattern of each patient was subclassifed in five morphological types. Based on the order and type-specific reference points, an anomalous LAA variants were classified into 20 subtypes. Type 1 (Typical branching pattern) LAA was identifed in 781 (76.12%) of the patients. Among 242 aberrant LAA variants (four types, 23.58%), the most common subtypes; Type 2A with brachiocephalico-carotid trunk (BCT), Type 4A1 with an aberrant left vertebral artery (ALVA), and Type 3A1, in which BCT coexisted with ALVA, were observed in 17.6%, 3.6%, and 0.88% of the cases, respectively. The frequency of remaining LAA variants ranged from 0.39% to 0.097%. In addition, Type 3B2 and Type 4C were first identified in our study. We observed Type I and II RAA in one female (0.097%) and two cases (male and female, 0.19%), respectively. Knowledge of AA branching variations is of great interest in neck and thoracic surgery and the new morphological types in clinically applicable form recommended in this study can be used in endovascular interventions.

Morphometry of the aortic arch and its branches. A computed tomography angiography-based study.

The current study aims to determine the prevalence of variations of the aortic arch using computed tomography angiography (CTA), as well as morphometries and gender correlations. A retrospective, transverse, observational and descriptive study of 220 CTA was performed. The branching pattern, most cranial vertebral level of the aortic arch, area of the proximal, middle and distal segments of the arch, area of each branch, and the path of atypical arteries were recorded. Results were analysed and stratified by gender. The typical aortic arch branching pattern was present in 77.7% without statistical significance between genders. The most common variant was a two-branch pattern with a common trunk and a left subclavian (13.6%), followed by a typical branching pattern with an added left vertebral artery (7.3%). T3 was the most frequent cranial level (32.3%), followed by T2-T3 (26.8%), and T3-T4 (23.2%). The mean areas of the aortic arch were 685.5 ± 183.9, 476.1 ± 124.1, and 445.0 ± 145.1 mm2 for the proximal, middle and distal segments, with statistical difference between men and women in the middle and distal segments. Three paths of atypical arteries were identified: bifurcated vertebral artery (0.5%), aberrant right subclavian artery (0.5%), and left subclavian ostium obstruction (0.5%). Mexican population has one of the highest prevalence of variations in the aortic arch branching pattern. The high probability of finding these should be taken into consideration when assessing patients. A standardised classification method would contemplate future un-reported findings, without causing confusion by the different numbers assigned by each author.

Investigating the Association between Aortic Arch Variants and Intracranial Aneurysms.

There is an association between anterior cerebral artery vessel asymmetry and anterior communicating artery aneurysm, presumably based on flow dynamics. The purpose of this study is to investigate the potential relationship between aortic arch branching patterns and incidence of intracranial aneurysm. This study included patients scanned over 1 year at our tertiary care center who underwent high-resolution imaging (computed tomography angiography or digital subtracted angiogram) of the head and neck arteries, aortic arch, and superior mediastinum. Exclusion criteria included patients with suboptimal images. Patient age, gender, aortic arch branching pattern, and the presence, location, and number of aneurysms were documented. Among the 1082 patients analyzed, 250 (23%) patients had a variant aortic arch branching pattern, 22 (8.8%) of whom had aneurysms. There were 104 patients with 126 aneurysms, with majority of patients with normal aortic arch branching pattern (n = 82, 79%). The most common variant was a common origin of the left common carotid artery and brachiocephalic trunk with or without direct origin of the left vertebral artery. Twenty-two patients with aneurysms had an aberrant aortic arch (21%), compared to 232 patients without an aneurysm (24%). Fischer exact test showed no statistically significant difference between the incidence of aneurysm with different aortic arch variant groups (two-tailed p-value = 0.715). To our knowledge, this is the first study to examine the association between aortic arch branching patterns and incidence of intracranial aneurysm. No significant association was found between aortic arch branching pattern and the incidence of intracranial aneurysm.

Anatomical organization of aortic arch variation with embryological basis and clinical application

Introduction: The variation in the aortic arch is well known and it has been demonstrated by number of researchers. Changes involved in the development of aortic arch system such as regression, retention or reappearance result in the variation in branching pattern of aortic arch. Variations of the branches of aortic arch are due to alteration of branchial arch arteries during embryonic period. The most common classical branching pattern of the aortic arch in humans comprises of three great vessels, which includes Brachiocephalic trunk, Left Common Carotid artery and Left Subclavian artery. Aim: The study is to determine the embryological basis correlating with clinical application and surgical procedures. Materials and Methods: A study was conducted in 50 formalin fixed cadaveric hearts, during a period of two years. In the routine dissection for 1st MBBS and also museum specimens we encountered 3variations in the branches of arch of aorta. Results: The variations in aortic arch branching pattern were observed in 4 cadaveric hearts (8%). Conclusion: The wide spectrum of variation in the human aortic arch and its branches offer valuable information to catheterize in endovascular surgery for diagnostic and surgical procedures in the thorax, head and neck regions. KEY WORDS: Aortic Arch (AA), Left Common Carotid (LCCA), Left Subclavian (LSA), Brachiocephalic Trunk (BCT), left vertebral artery(LVA).

Multi-detector computed tomography (MDCT) as a diagnostic tool in assessment of thoracic aortic anomalies in pediatric patients

BackgroundA wide variety of congenital thoracic aortic variants and pathological anomalies could be assessed recently in diagnostic and interventional radiology. Multi-detector computed tomography (MDCT) is one of the most important non-invasive diagnostic tools for their detection. The aim of the study was to evaluate role of MDCT scanning for diagnosis of thoracic aortic anatomic variants and diseases in pediatric patients.ResultsThirty patients (15 male and 15 female), mean age (8.49 ± 20.29 months) were diagnosed with different thoracic aortic anomalies by MDCT then confirmed by surgical results. MDCT was more sensitive than echocardiography in detection of hypo plastic arch, vascular rings, interrupted aortic arch anomalies, and aortic coarctation. Both MDCT and echocardiography showed 100% sensitivity in their detection of TGA, TOF, and PDA. MDCT detected 6 cases of right-sided aortic arch while echo missed 2 cases. Different aortic arch branching patterns and coronary origin were better demonstrated by MDCT.Conclusion320-Multi-detector computed tomography is a reliable tool for optimal detection of thoracic aortic anomalies and preoperative planning.

A systematic classification of the left-sided aortic arch variants based on cadaveric studies' prevalence.

Typical branching pattern of the left-sided aortic arch consists of the brachiocephalic trunk (BCT), the left common carotid artery (LCCA) and the left subclavian artery (LSA). Variant patterns have been associated with a broad spectrum of pathologies. The meticulous knowledge of potential aortic arch variants is of utmost importance to radiologists, interventional cardiologists, vascular and thoracic surgeons. The current systematic review collects all aortic arch branching patterns and their frequency as published by various cadaveric studies, calculates prevalence taking into account the gender and the different people background, as well. All extracted variant patterns are classified into types and subtypes according to the number of emerging (major and minor) branches (1, 2, 3, 4 and 5) and to the prevalence they appear. In cases of similar prevalence, total cases were taken into consideration; otherwise the variants were classified under the title "other rare variants". A systematic online search of PubMed and Google books databases was performed only in cadaveric studies. Twenty studies with typical (78% prevalence) and variable (22%) branching patterns were included. Types 3b, 2b, 4b, 1b and 5b had aprevalence of81%, of13%, of5%, 0% and of0%, respectively. Common variants were the brachiocephalico-carotid trunk (BCCT, 49% prevalence), the aberrant left vertebral artery (LVA, 41%) and the aberrant right subclavian artery (ARSA, 8%). LVA of aortic origin was detected in 32%, the bicarotid trunk (biCT) in 5% and the bi-BCT trunk in 3%. Thyroidea ima artery, a minor branch emerging from the aortic arch was found in 2%. Coexisted variants were detected in 4% (ARSA with a distinct RCCA and LCCA origin), in 3% (BCCT with a LVA of aortic origin), in 2% (ARSA with a biCT and a vertebrosubclavian trunk). No significant gender or ethnic differences exist among the 5 branching types. The proposed classification scheme aims to become a valuable and easy to use tool in the hands of all physicians involved in diagnosis and treatment of aortic arch pathology. It could be also useful in anatomical education,as well.

Aberrant right subclavian artery: A multi-detector computed tomography study

Introduction: Aberrant right subclavian artery (ARSA) arises as the last branch of normally positioned aortic arch and its prevalence estimated as 0.16%–2.0% varies between different ethnic groups. Our aim was to assess the prevalence and associated branching anomalies of ARSA in the Indian participants. Material and Methods: Chest computed tomographic scans of 710 patients were analyzed to study the ARSA and its associated vascular anomalies. Results: We have observed 11 cases (5 in males and 6 in females) of ARSA with an estimated prevalence of 1.54%. In seven cases, there were four branches arising from the arch of aorta in the order of right common carotid, left common carotid, left subclavian, and aberrant right subclavian. In three cases, there were three branches – bicarotid trunk (common trunk of right and left carotids), left subclavian, and the aberrant right subclavian. In one case, there were five branches in the order of right common carotid, left common carotid, left vertebral, left subclavian, and aberrant right subclavian. Only two participants reported mild symptoms of dysphagia. In all the cases, the ARSA had retroesophageal course. Kommerell diverticulum was not observed. ARSA remain asymptomatic in most cases, but its presence should alert the clinician to look for associated vascular and any cardiac anomalies. Discussion and Conclusion: Awareness of the presence of ARSA is crucial for successful outcome of mediastinal, esophageal, and thoracic spine surgeries. Preprocedural computed tomography for the evaluation of aortic arch branching pattern will be beneficial for the successful performance of various surgical and radiological interventions.

Cardiac evaluation of patients with 22q11.2 duplication syndrome.

The 22q11.2 duplication syndrome (22q11.2DupS) is characterized by phenotypic heterogeneity, from seemingly asymptomatic to severely affected patients. Our study sought to detail the cardiac phenotype associated with 22q11.2DupS, the prevalence of aortic arch anomalies and aortic root dilation in 22q11.2DupS, and to assess how frequently new congenital heart disease (CHD) is diagnosed at outpatient cardiac evaluation following genetic diagnosis. In our cohort of 85 patients, 20.0% had CHD, with a wide range of phenotypes. Sixty-eight patients had complete cardiac evaluations detailing aortic arch sidedness and branching pattern, of which 5 (7.4%) had an aortic arch anomaly, all of whom had concurrent intracardiac CHD. Of 53 patients without CHD who had complete cardiac evaluations, only 3 (5.7%) had evidence of aortic root dilation. Of 46 patients who underwent outpatient cardiac evaluation following diagnosis of 22q11.2DupS, only one (2.2%) was found to have CHD, an isolated bicuspid aortic valve without stenosis. Therefore, the CHD phenotype in 22q11.2DupS, when present, is heterogeneous. Aortic arch anomalies are uncommon, and no patient in our cohort had one in isolation. Isolated aortic root dilation is also uncommon. Finally, outpatient cardiac evaluation following genetic diagnosis without previously known CHD infrequently identified minor cardiac malformations.

Fetal double aortic arch: prenatal sonographic and postnatal computed tomography angiography features, associated abnormalities and clinical outcomes

BackgroundFetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management.MethodsThe obstetric ultrasound imaging databases of seven tertiary referral centers were reviewed retrospectively to identify fetuses with a prenatal diagnosis of DAA between January 2013 and December 2018. Ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes were evaluated.ResultsA total of 36 cases out of 40 prenatally diagnosed DAA fetuses were confirmed by postnatal diagnosis (fetal autopsy, CTA, and surgery). In this cohort of 36 confirmed cases, 24 (67%) were isolated anomalies, while 12 (33%) were associated with intracardiac or extracardiac anomalies, and 2 (6%) had a 22q11.2 chromosome deletion. Among nine cases of pregnancy termination with a fetal autopsy, 7 had other abnormalities. Among the remaining 27 live births, 16 (59%) were asymptomatic and 11 (41%) received surgical treatment due to tracheal or esophageal compression symptoms, all with satisfactory outcomes. Prenatal echocardiography showed that DAA was mainly characterized by a bifurcation of the ascending aorta into the right and left aortic arch and the formation of a complete O-shaped vascular ring around the trachea on the three-vessel tracheal view. A variant in the aortic arch branching pattern was found for the first time. The airway obstruction, branching pattern, and atretic arch of DAA were clearly shown by postnatal CTA.ConclusionsFetal DAA has unique features on prenatal echocardiography and postnatal CTA, and systematic prenatal examination and timely postnatal CTA evaluation are required. A certain proportion of intracardiac and extracardiac abnormalities are associated with DAA, but the probability of chromosome abnormalities is low, especially for isolated DAA.The clinical outcomes of isolated DAA are favorable, even if surgery is performed due to symptoms. Determining whether other malformations or chromosomal anomalies exist is crucial for prognosis evaluation and prenatal counseling.