Diagnosis Of Aortic Arch Anomalies Research Articles

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.

Prenatally detected aortic arch anomalies and their consequences after birth

Aortic arch anomalies are frequently associated with cardiac or extracardiac malformations, chromosomal aberrations and postpartum esophagus/trachea compression. We aimed to establish the prevalence of associated cardiac and extracardiac malformations, the frequency of chromosomal aberrations in fetuses with the diagnosis of aortic arch anomalies and to assess the pregnancy and the postnatal outcome. Retrospective cohort study of all fetuses with aortic arch anomalies and genetic diagnosis in a tertiary referral obstetric and fetal cardiology centre between 2016 and 2020. Postpartum data were collected within 24 months after birth. In a cohort of 11.380 pregnant women, the prevalence of aortic arch anomalies was 0.25%. Among 28 cases of right aortic arch anomalies, in 27 fetuses prenatal genetic diagnosis was available. We diagnosed 4 fetuses with mirror-image branching (right sided V-sign) and 23 fetuses with U-sign (4 fetuses with complete double aortic arch). 18 cases (66%) were isolated. Associated anomalies were cardiac in 3 cases and extracardiac in 7 cases (33%). The most frequent cardiac anomaly was tetralogy of Fallot (2/27), the extracardiac anomalies were thymus hypoplasia, single umbilical artery and subclavian artery malformations. In 1 case (3.7%), fluorescent in situ hybridization diagnosed 22q11.2 microdeletion. 75% of fetuses with right sided V-sign were associated with conotruncal malformations. Pregnancy and postpartum outcome were known in 24 pregnancies. Postnatal diagnosis was different from prenatal in 2 cases, the concordance rate was 93%. Isolated cases resulted in live birth in 17/18 pregnancies (93%). The frequency of postpartum trachea/esophagus compression was 42,9% (9 cases) due to vascular ring, in 6 children (28,6%) operation was necessary. Fetal aortic arch anomalies are multidisciplinary diseases to be diagnosed by proper prenatal ultrasound examination. Associated fetal anomalies necessitate extended obstetric and cardiac sonography, invasive prenatal testing should be offered, and thorough postnatal long-term follow-up is recommended. Orv Hetil. 2023; 164(28): 1111-1120.

Accuracy and image quality of wide-detector revolution CT angiography combined with prospective ECG-triggered CT angiography in the diagnosis of congenital aortic arch anomalies in Chinese children.

To explore the accuracy and image quality of wide-detector revolution CT angiography combined with prospective ECG-triggered CT angiography in the diagnosis of congenital aortic arch anomalies in Chinese children. From January 2020 to July 2022, the clinical data of 57 children with congenital aortic arch anomalies confirmed by surgery were collected. All patients underwent CT angiography (CTA) with Revolution CT and transthoracic echocardiography (TTE) before the operation. The accuracy of CTA and TTE in the diagnosis of aortic arch anomalies was compared with the surgical results. The diagnostic sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of CTA and TTE for congenital aortic arch anomalies (including intracardiac and extracardiac structural abnormalities) were 92.2% and 85.5%, 99.4%, and 99.1%, 97.4% and 95.6%, 98.1% and 96.9%, and 97.2% and 95.2%, respectively. Regarding extracardiac structural malformations, the sensitivity of CTA was 100%, whereas that of TTE was 78.6% (P < 0.001). Regarding intracardiac structural malformations, the sensitivity of CTA was 84.5%, whereas that of TTE was 92.5% (P < 0.001). Regarding satisfaction with the images in aortic arch anomalies, surgeons noted that the CTA images were more useful for diagnosis and operation planning compared with TTE. Wide-detector revolution CT angiography combined with prospective ECG triggering can be routinely used to assess congenital aortic arch anomalies, providing adequate image quality and high diagnostic accuracy. However, limitations in the identification of intracardiac structural abnormalities are noted.

Non-invasive diagnosis of aortic arch anomalies in children - 15 years of own experience.

AimTo summarize our experience in echocardiographic diagnosis of aortic arch anomalies in pediatric patients.Materials and methodsA retrospective assessment of echocardiographic findings in Echo-Lab patients of the Pediatric Cardiac Surgery Department, who were diagnosed with an anomalous aortic arch between 2003 and 2018.ResultsThe diagnosis of an abnormal course of the aortic arch and/or its branches was established in 115 children aged between 4 days and 17 years. The following types of anomalies were detected: left aortic arch with aberrant right subclavian artery in 42 patients; right aortic arch with left brachiocephalic trunk in 14 patients; right aortic arch, aberrant left subclavian artery in 36 patients; double aortic arch in 14 patients; and other, more complex types in 9 patients. The main elements of defects were correctly identified by echo in all cases. We decided to additionally perform computed tomography angiography in 32 patients to clarify all details necessary to qualify patients for surgery and establish the surgical plan.Conclusions1. Echocardiography strictly following the pre-determined protocol has 100% sensitivity in the detection of basic elements of aortic arch anomaly and is a perfect tool for diagnostic process initiation. 2. Since it is not possible to visualize all anatomic details, the qualification for surgery should by based on computed tomography angiography or cardiac magnetic resonance imaging, which precisely visualize both abnormal vessels and compressed structures.

Aortic arch anomalies detected in foetal life by echocardiography

Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. In a patient with isolated right aortic arch, 22q11 microdeletion had been revealed. Given this data, we strongly suggest foetal karyotype analysis when aortic arch anomalies are identified.Impact StatementWhat is already known on this subject: The data about the prenatal diagnosis of aortic arch anomalies are limited.What the results of this study add: In our study, 653 patients were examined by foetal echocardiography during the study period. Thirty three patients who had been diagnosed with aortic arch anomaly prenatally and confirmed after delivery were enrolled in the study. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. Trisomy 18 was detected in the patient with bilateral ductus arteriosus and Di George syndrome (22q11 microdeletion) was determined in two patients with right aortic arch. While in the first patient, there were no other intracardiac anomalies; in the second patient with 22q11 microdeletion, Fallot tetralogy accompanied the right aortic arch.What the implications are of these findings for clinical practice and/or further research: This results showed that aortic arch anomalies can be associated with genetic anomalies even when they are found without other congenital heart disease. Given these data, we strongly suggest foetal karyotype analysis and genetic testing when aortic arch anomalies are identified.

EP04.44: Accuracy of early fetal echocardiography within 16 weeks of gestation in the diagnosis of aortic arch anomalies in a high‐risk population

The aim of the study was to evaluate the feasibility of making a correct prenatal diagnosis of aortic arch anomalies with early fetal echocardiography in an high-risk population. Early fetal echocardiography was performed in high-risk pregnancies (NT > 99th percentile, NT between 95th and 99th percentile with tricuspid regurgitation (TR) or abnormal flow of the ductus venosus (DV), TR and abnormal DV, previous child affected by congenital heart disease (CHD), suspected CHD or extra-cardiac anomaly during early fetal anomaly scan). In all cases a fetal echocardiographic evaluation was offered at 19-21, 32-34 weeks of gestation and postnatally. On early fetal echocardiography we identified 29 cases of aortic arch anomalies. Fifteen cases were excluded from the study because parents opted for termination of pregnancy in the first trimester. In the 14 remaining cases, we diagnosed 6 cases of coarctation of the aorta (CoA) and 8 right aortic arch (RAA); in 5/6 cases the CoA was severe. In all but one cases the diagnosis was confirmed at the follow up scan: only in 1 case the diagnosis of RAA was slightly modified into double aortic arch (DAA). In addition we had 3 false negative cases (2 CoA, 1 RAA). Our study confirmed the feasibility of making a correct prenatal diagnosis of aortic arch anomalies based on early fetal echocardiography.

Multimodality imaging in prenatal diagnosis and management of aortic arch anomalies

There is a growing body of knowledge regarding the integration of multiple imaging modalities into the care of fetuses with aortic arch anomalies. This study aims to present our experience and fetal cardiac output data from a cohort of patients with discrete aortic coarctation and aortic arch hypoplasia. Methods/ResultsRetrospective review identified 25 fetuses with discrete aortic coarctation (n=8) or aortic arch hypoplasia (n=17) (with mean gestational age at diagnosis, 27.2weeks; at birth 37.6weeks). Mean combined ventricular output in all fetuses with normal ventriculo-arterial concordance was 383ml/min/kg (median 362) with mean R:L cardiac output ratio of 2.83 (median 2.13). Of 23 neonates with primary surgical arch repair, all 7 with discrete coarctation underwent lateral thoracotomy without re-intervention. Of 16 with arch hypoplasia, 10 underwent primary lateral thoracotomy (3 with re-intervention) and 6 underwent primary sternotomy (1 with re-intervention). Of 2 with mild coarctation without primary repair, one with coexistent severe LV dysfunction underwent stenting and dilatation; the other is followed in the context of transposition of the great arteries status post arterial switch. Pre-op CT and 3D cardiac printing were obtained in 19 neonates. During follow-up, five (20%) had systemic hypertension. ConclusionFetal R:L cardiac output ratio may provide complementary hemodynamic information in prenatal diagnosis of aortic arch anomalies. As expected, characterization of arch conformation remains critical for surgical planning. Pre-operative cardiac CT remains a useful adjunct to delineate arch anatomy for surgical planning purposes but may not reduce re-intervention by itself. Benefit of 3D cardiac printing remains difficult to quantify but has become an invaluable tool for family education. Based on our data, neonates with arch hypoplasia may benefit from midline sternotomy for more extensive surgical exposure and potentially reduced re-intervention rate.

Cardiopulmonary Bypass (CPB) in Low-birth Weight Premature Neonate with Double Aortic Arch, Congenital Heart Disease and Tracheal Stenosis

Introduction: Prenatal diagnosis of aortic arch anomalies associated with critical tracheal stenosis is challenging and management is related to high morbidity and mortality. We present successful surgical treatment of low-birth weight premature neonate with vascular ring, congenital heart disease and tracheal stenosis.

CT scan Findings of Aortic Arch Anomalies in Patients Referred to a Private Imaging Center in Tehran from 2008 to 2011

Objectives: The objective of this study was to examine the findings of CT angiography in patients with aortic arch anomalies and comparison with echocardiography findings in patients referred to a private imaging center in Tehran during 20082011. Patients and Methods: The cases included 203 patients with clinical symptoms or echocardiograms of congenital heart disease who were referred to Tooska Imaging Center to assess the presence of aortic arch anomalies. This study was a retrospective study of CT angiography and chest echocardiography findings of patients with aortic arch anomalies. Results: In this study, 203 patients with congenital anomalies were enrolled. Among those, 107 patients were men (96 female). The most common anomaly of the aortic arch was coarctation (19.7%) and Right sided arch with mirror image branching (19.2%). The most common cardiac anomalies associated with aortic arch anomalies were VSD, PA, and PDA. The sensitivity and specificity of echocardiography compared to CT angiography in the diagnosis of aortic arch anomalies was 59% and 100% respectively. Agreement between the two methods (kappa) in the diagnosis of aortic arch anomalies was 0.72. Conclusions: Although echocardiography is the first diagnostic method for patients with congenital heart disease, in some patients, the ability of this method in detection of coronary artery anomalies and thoracic vessels was limited. As a result, CT is used in morphologic evaluation of congenital heart disease (CHD) and its high temporal and spatial resolution is essential for proper evaluation. MDCT is a useful alternative in depiction of aortic arch disorders, determining anatomic landmarks as well as delineating of associated cardiovascular anomalies.

Early Lung Function Testing in Infants with Aortic Arch Anomalies Identifies Patients at Risk for Airway Obstruction

BackgroundAortic arch anomalies (AAA) are rare cardio-vascular anomalies. Right-sided and double-sided aortic arch anomalies (RAAA, DAAA) are distinguished, both may cause airway obstructions. We studied the degree of airway obstruction in infants with AAA by neonatal lung function testing (LFT).Patients and Methods17 patients (10 RAAA and 7 DAAA) with prenatal diagnosis of AAA were investigated. The median (range) post conception age at LFT was 40.3 (36.6–44.1) weeks, median body weight 3400 (2320–4665) g. Measurements included tidal breathing flow-volume loops (TBFVL), airway resistance (Raw) by bodyplethysmography and the maximal expiratory flow at functional residual capacity (V′maxFRC) by rapid thoracic-abdominal compression (RTC) technique. V′maxFRC was also expressed in Z-scores, based on published gender-, age and height-specific reference values.ResultsAbnormal lung function tests were seen in both RAAA and DAAA infants. Compared to RAAA infants, infants with DAAA had significantly more expiratory flow limitations in the TBFVL, (86% vs. 30%, p<0.05) and a significantly increased Raw (p = 0.015). Despite a significant correlation between Raw and the Z-score of V′maxFRC (r = 0.740, p<0.001), there were no statistically significant differences in V′maxFRC and it's Z-scores between RAAA and DAAA infants. 4 (24%) infants (2 RAAA, 2 DAAA) were near or below the 10th percentile of V′maxFRC, indicating a high risk for airway obstruction.ConclusionBoth, infants with RAAA and DAAA, are at risk for airway obstruction and early LFT helps to identify and to monitor these infants. This may support the decision for therapeutic interventions before clinical symptoms arise.

Cardiac Magnetic Resonance Imaging for Accurate Diagnosis of Aortic Arch Anomalies in Patients with 22q11.2 Deletion

Cardiac Magnetic Resonance Imaging for Accurate Diagnosis of Aortic Arch Anomalies in Patients with 22q11.2 Deletion

Cardiac Magnetic Resonance Imaging for Accurate Diagnosis of Aortic Arch Anomalies in Patients with 22q11.2 Deletion

This study demonstrates, in patients with 22q11.2 deletion, the wide variety of complex aortic arch anomalies that can be accurately defined by cardiac magnetic resonance imaging (MRI) compared with echocardiography. From May 1999 to August 2003, 17 of 68 patients (25%) with 22q11.2 deletion referred for cardiac evaluation required cardiac MRI, after echocardiography, to clarify aortic arch anatomy. Images of cardiac anatomy were obtained using steady-state free precession, half-Fourier acquired single turbo spin-echo dark blood sequences and gadolinium for 3-dimensional reconstruction. All MRI findings were abnormal, and in 16 of 17 cases, echocardiography was unable to define aortic arch anomalies correctly compared with MRI.

Three-dimensional imaging of aortic arch anomalies in infants and children with intravascular ultrasound catheters from a transesophageal approach

Aortic arch anomalies usually require surgical intervention preceded by precise anatomic definition. We studied 20 patients to evaluate the feasibility and accuracy of using intravascular ultrasound catheters from a transesophageal approach with 3-dimensional image reconstruction for the diagnosis of aortic arch anomalies in infants and children. All patients had transthoracic echocardiograms and/or angiograms or magnetic resonance imaging. A 12.5-MHz intravascular ultrasound catheter was positioned in the esophagus and withdrawn by using an electrocardiogram and a respiratory gated pullback device to acquire the mediastinal images. All patients with arch anomalies underwent surgical repair. Reconstructed images were analyzed in the “anyplane” mode and with surface rendering. Intravascular ultrasound 3-dimensional imaging was successfully accomplished without complications. Anatomy was correctly identified in all patients by both blinded and unblinded observers, thus confirming the sensitivity and accuracy of the technique. We foresee this new technique to be useful as an adjunctive imaging modality applicable at the bedside or in the cardiac imaging laboratory. (J Am Soc Echocardiogr 2000; 13:924-31.)

Aortography by radial artery injection in infants with anomalies of the aortic arch.

Aortography by radial artery injection was performed in 22 infants and one child with congenital heart disease. The left radial artery was used in 20 cases and the right radial artery was used in 3 cases. This method visualized the following aortic arch anomalies: coarctation of the aorta in 4 patients, interrupted aortic arch in one, patent ductus arteriosus in 10, patency of the left Blalock-Taussig shunt in one and anomalous origin of the right subclavian artery in one. An injection of the contrast material into the right radial artery in one case failed to visualize coarctation of the aorta, which was confirmed by retrograde catheterization. Retrograde aortography has been necessary for diagnosis of aortic arch anomalies, but it is not so easy to perform and carries a risk of arterial thrombosis. Aortography by radial artery injection is relatively easy to perform, less invasive and has no severe complications. It is concluded that aortography by radial artery injection is a useful method for diagnosis of anomalies of the aortic arch in neonates and children.