Aortic Arch Anomalies Research Articles

Does measurement of four-limb blood pressures at birth improve detection of aortic arch anomalies?

To determine normal four-extremity blood pressure (BP) in the neonatal intensive care unit (NICU) at birth and the utility of upper (UE) and lower extremity (LE) BP difference to screen for coarctation of the aorta (Co-A) and interrupted the aortic arch (IAA). Retrospective study of BP at birth (n=866), and case-control study of Co-A/IAA infants and matched controls (1:2). Although BP increased with gestational age (R(2)=0.3, P<0.0001), the pressure gradient between UE and LE did not change with gestation (P=0.68). Forty-six cases of Co-A/IAA were identified, with 92 controls. Pressure gradient was significantly higher in patients with Co-A/IAA (7.6±14.8 versus 0.4±10 mm Hg, P=0.004). However, there was overlap between cases and controls resulting in low sensitivity (41.3% with ⩾10 mm Hg gradient cutoff). Evaluation of UE-LE BP gradient at birth is a poor screening test for Co-A/IAA with low sensitivity. Repeating four-limb BP after ductal closure at 24 to 48 h along with SpO2 screening for critical congenital heart disease may increase sensitivity.

Usefulness of intraoperative bronchoscopy during surgical repair of a congenital cardiac anomaly with possible airway obstruction: three cases report.

Compression of the airway is relatively common in pediatric patients, although it is often an unrecognized complication of congenital cardiac and aortic arch anomalies. Aortopexy has been established as a surgical treatment for tracheobronchial obstruction associated with vascular anomaly, aortic arch anomaly, esophageal atresia, and tracheoesophageal fistula. The tissue-to-tissue arch repair technique could result in severe airway complication such as compression of the left main bronchus which was not a problem before the correction. We report three cases of corrective open heart surgery monitored by intraoperative bronchoscopy performed during prebypass, and performed immediately before weaning from bypass, to evaluate tracheobronchial obstruction caused by congenital, complex cardiac anomalies in the operating room.

Paradigm for Detecting Silent Thoracic Aneurysm Disease

Thoracic aortic aneurysms (TAA) pose a serious detection challenge owing to their clinically silent nature. Only a small fraction of TAAs cause symptoms in patients. However, the mortality burden of this disease in the population is significant, given the high lethality of such complications as aortic rupture and dissection. Widespread screening for TAA has not been shown to be cost-effective. Therefore, currently most patients with a TAA are identified incidentally during an imaging study conducted for other reasons. Once a TAA diagnosis is established, prophylactic surgical treatment can safely be performed for aneurysms of the ascending aorta, aortic arch, and descending or thoracoabdominal aorta, thus preventing aneurysm-related death. To facilitate early detection of TAA, recent studies have identified several "associates" of TAA that may be useful in making a timely diagnosis. These "associates" include intracranial aneurysm, aortic arch anomalies, abdominal aortic aneurysm, simple renal cysts, bicuspid aortic valve, temporal arteritis, a positive family history of aneurysm disease, and a positive thumb-palm sign, among others. Although for many of these "associates" the underlying mechanism that would explain the association remains to be elucidated, the clinical correlation is strong enough to suggest screening patients with these findings for TAA. This article introduces the "Guilt by Association" paradigm for detection of silent thoracic aortic disease based on detection of clinical markers associated with this condition.

Isolation of Left Common Carotid Artery with Its Origin Proximal to Patent Ductus Arteriosus Presenting in Adult Age.

Anomalies of aortic arch are a common occurrence. Such anomalies of right sided aortic arch with its various branching patterns are of clinical importance. Rarer anomalies include isolation (deficient connection) of either left subclavian artery or left common carotid artery; that is, they do not have their origin from aorta or its major branches. We present a case of an 18-year-old male who presented with gradual onset pulsatile swelling with bruit in neck on left side and was evaluated by CT brain and neck angiography. CT angiography revealed right sided aortic arch with aberrant left subclavian artery and isolated left common carotid artery. Very few cases of such an anomaly have been documented in the literature but none in an adult.

Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development.

ABSTRACTLipoprotein-related receptor protein 2 (LRP2) is important for development of the embryonic neural crest and brain in both mice and humans. Although a role in cardiovascular development can be expected, the hearts of Lrp2 knockout (KO) mice have not yet been investigated. We studied the cardiovascular development of Lrp2 KO mice between embryonic day 10.5 (E10.5) and E15.5, applying morphometry and immunohistochemistry, using antibodies against Tfap2α (neural crest cells), Nkx2.5 (second heart field), WT1 (epicardium derived cells), tropomyosin (myocardium) and LRP2. The Lrp2 KO mice display a range of severe cardiovascular abnormalities, including aortic arch anomalies, common arterial trunk (persistent truncus arteriosus) with coronary artery anomalies, ventricular septal defects, overriding of the tricuspid valve and marked thinning of the ventricular myocardium. Both the neural crest cells and second heart field, which are essential for the lengthening and growth of the right ventricular outflow tract, are abnormally positioned in the Lrp2 KO. This explains the absence of the aorto-pulmonary septum, which leads to common arterial trunk and ventricular septal defects. Severe blebbing of the epicardial cells covering the ventricles is seen. Epithelial-mesenchymal transition does occur; however, there are fewer WT1-positive epicardium-derived cells in the ventricular wall as compared to normal, coinciding with the myocardial thinning and deep intertrabecular spaces. LRP2 plays a crucial role in cardiovascular development in mice. This corroborates findings of cardiac anomalies in humans with LRP2 mutations. Future studies should reveal the underlying signaling mechanisms in which LRP2 is involved during cardiogenesis.

Fetal Aortic Arch Anomalies: Key Sonographic Views for Their Differential Diagnosis and Clinical Implications Using the Cardiovascular System Sonographic Evaluation Protocol.

Aortic arch anomalies are present in 1% to 2% of the general population and are commonly associated with congenital heart disease, chromosomal defects, and tracheaesophageal compression in postnatal life. The sonographically based detection of aortic arch anomalies lies in the 3-vessel and trachea view. Although highly sensitive, this view alone does not allow identification of the aortic arch branching pattern, which prevents an accurate diagnosis. The systematic addition of a subclavian artery view as part of a standardized procedure may be useful in the differential diagnosis of these conditions. We describe the sonographic assessment of fetal aortic arch anomalies by combining 2 fetal transverse views: the 3-vessel and trachea view and the subclavian artery view, which are included in the cardiovascular system sonographic evaluation protocol. We also review the sonographic findings and the clinical implications of fetal aortic arch anomalies.

Surgical treatment of congenital anomalies of the aortic arch : Long-term results

Congenital anomalies of the aortic arch gather a wide spectrum of malformations concerning the aortic arch or some of its branches and the pulmonary artery. These malformations are rare (1 in 1000 live births) and sometimes responsible of complete (vascular ring) or partial (vascular sling) encirclement of the oesophagus, trachea or bronchi. In cases of symptomatic airways obstruction or oesophagus compression the surgical treatment is mandatory and curative. In this paper we describe the experience of Children's Hospital of Toulouse on the surgical treatment of congenital anomalies of aortic arch.

Value of MRI in the diagnosis of fetal aortic arch anomalies

Objective To explore the value of MRI in the diagnosis of fetal aortic arch anomalies. Methods We retrospectively collected 10 fetuses with aortic arch anomalies indicated by prenatal ultrasound and underwent MR examination and were subsequently proven by autopsy or post-birth follow-up from 320 pregnant women. We focused on the observations of the location of the aortic arch and brachiocephalic artery anomalies, the locations of the liver and stomach in the abdominal cavity, and the large vessels in abdomen. The above-mentioned finding were compared with prenatal ultrasound and follow-up findings. Results Of 10 cases, right aortic arch with aberrant left subclavian artery was seen in 7 cases, right aortic arch with the mirror branch, left aortic arch with aberrant right subclavian artery, right aortic arch with aberrant left subclavian artery combined with cervical aortic arch and double aortic arch was seen in 1 case, respectively. All aortic arch anomalies detected by MRI were consistent with post-birth or autopsy findings. Ultrasound misdiagnosed aortic branch malformation in 5 places, which included right aortic arch but misdiagnosed aberrant left subclavian artery in 2 cases, right aortic arch never diagnosed mirror branch anomaly in 1 case, right aortic arch with left subclavian artery misdiagnosed cervical aortic arch in 1 case, left atrial isomerism but misdiagnosed left aortic arch with aberrant right subclavian artery in 1 case; One double aortic arch was misdiagnosed as right aortic arch with aberrant left subclavian artery in ultrasound. Conclusion Fetal cardiovascular MRI is an effective and supplementary examination to complement ultrasound in diagnosis of fetal aortic arch anomalies. Key words: Fetus; Aorta,thoracic; Vascular malformations; Magnetic resonance imaging

Cutaneous thoracic hemangioma and internal vascular anomalies

We report a male infant with a small thoracic strawberry hemangioma associated with other vascular anomalies: agenesis of the left vertebral artery and hypoplasia of the left carotid artery, and an intestinal hemangioma 45 cm in length removed at 1 1/2 months of age. He also had a severe aortic arch coarctation and ductus arteriosus. He died at the age of 4 months because of cardiac decompensation after surgical correction of the aortic arch coarctation. Neuroradiological study of the cerebral vessels and Central nervous system structures was not performed. Cardiac, aortic arch malformations and anomalies of the cerebral arteries are often associated with cutaneous hemangiomas, and all these features and may be some others define this syndrome.

Аномалии дуги аорты: проблемы пренатальной и постнатальной тактики

Аномалии дуги аорты: проблемы пренатальной и постнатальной тактики

Value of combination of three-vessel views in ultrasound diagnosis of fetal aortic arch and pulmonary arterial branch anomalies

Objective To evaluate the role of combination of three-vessel views in ultrasound diagnosis of fetal aortic arch and pulmonary arterial branch anomalies. Methods The data of 66 cases of fetal aortic arch and pulmonary arterial branch anomalies were retrospectively analysed, including echocardiographic data, autopsy and operation records and postnatal follow-up results. Echocardiogaphic features and display frequencies on three vessels and trachea view(3VT), three vessels view(3VV) and three vessels and pulmonary arterial branches view(3VP) were summarized. Results There were 52 cases of aortic arch abnormalities, including 32 cases of right aortic arch with left ductus arteriosus, 4 cases of double aortic arch, 7 cases of aberrant right subclavian artery, 6 cases of coarctation of aorta and 3 cases of interruption of aortic arch. Fourteen cases were diagnosed pulmonary aterial branch abnormalities, including 10 cases of crossed pulmonary arteries, 2 cases of anomalous origin of left pulmonary artery from aortic arch and 2 cases of pulmonary artery sling. The display frequencies of fetal aortic arch and pulmonary arterial branch anomalies on 3VT, 3VV and 3VP were 80.3%, 19.7% and 39.4%. Conclusions The combination of three-vessel views is of great value in prenatal diagnosis of fetal aortic arch and pulmonary arterial branch anomalies. Key words: Ultrasonography, prenatal; Heart defects, congenital; Three-vessel view; Aortic arch; Pulmonary arterial branch

Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial /DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of 22q11DS subjects separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (Cohort 1 n=562; Cohort 2 n=387), 603 with CHDs (Cohort 1 n=363; Cohort 2 n=240) and 346 with normal cardiac anatomy (Cohort 1 n=199; Cohort 2 n=147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p=3.12x10-3, two-tailed Fisher’s exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p=3.30x10-2, two-tailed Fisher’s exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p=2.68x10-4, two-tailed Fisher’s exact test), indicating that the SLC2A3 duplication may serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.

Atresia of the aortic arch in 4-year-old child: a clinical case study.

Atresia of the aortic arch is a rare congenital heart defect with a high mortality when associated with other intracardiac defects. Cardiac magnetic resonance (CMR) provides the exact anatomy of the aortic arch and collateral circulation and is useful to diagnose-associated aortic arch anomalies. This report describes the case of a 4-year-old child with atresia of the aortic arch, referred to our institution with the diagnosis of aortic coarctation and bicuspid aortic valve. On clinical exam, the femoral pulses were not palpable and there was a significant differential blood pressure between the upper and lower limbs. The echocardiography showed a severely stenotic bicuspid aortic valve but was limited for the exact description of the aortic arch. CMR showed absence of lumen continuity between the ascending and descending aorta distal to the left subclavian artery, extending over 5 mm, with the presence of a bend in the arch and diverticulum on either side of the zone of discontinuity, suggesting the diagnosis atresia of the aortic arch rather than coarctation or interruption. The patient benefited from a successful surgical commissurotomy of the aortic valve and reconstruction of the aortic arch with a homograft. The post-operative CMR confirmed the good surgical result. This case emphasizes the utility of CMR to provide good anatomical information to establish the exact diagnosis and the operative strategy.

Coexistence of Single Coronary Artery Anomaly and Aortic Arch Anomaly

Coexistence of Single Coronary Artery Anomaly and Aortic Arch Anomaly

Prenatal Diagnosis of Isolated Right Aortic Arch: A Case Report

Detection of aortic arch anomalies prenatally is rare. Right aortic arch is a subgroup of aortic arch anomalies. In this paper, we report an isolated right aortic arch case that is detected in the 22nd week of pregnancy. Prenatal diagnosis is crucial for prenatal genetic counselling and approach in neonatal life.

PO-0491 Managing Neonates With Significant Congenital Heart Disease Outside Specialist Cardiac Centres: A Four-year Retrospective Study

Background It has been “standard” for deliveries with antenatal or postnatal diagnoses of significant congenital heart disease (CHD) to be managed at specialist cardiac centres (CC) soon after birth. Capacity constraint in specialist CC has called for change in practice. The appointment of Paediatricians with Expertise in Cardiology (PECs) who work closely with paediatric cardiologists within network, has allowed tertiary neonatal intensive care units (NICU) to manage the appropriately selected deliveries outside CC. Patients were transferred electively to CC when specialist interventions indicated. Aim To review the outcome of neonates with significant CHD initially delivered and managed outside specialist CC. Methodology A four-year retrospective cohort study on a single institution performed. Patients were identified from electronic databases. PDAs, simple ASDs or VSDs, or minor valvular defects were excluded from study. Results A total of 40 neonates identified. Twenty (50%) were antenatal diagnoses and others (50%) postnatal. Antenatal diagnoses include aortic arch anomalies (n = 3, 15%), Fallot’s tetralogy (n = 3, 15%), DORV (n = 4, 20%) and TGA (n = 1, 5%). Seventeen (42.5%) had stable in-patient course and were discharged home for local follow-up. Fourteen (35%) were transferred to CC for specialist interventions within first month of transfer. Total in-patient care duration was 818 days, with average stay of 20.4 days (1–170). Summary We report no adverse events or unexpected outcomes in managing these neonates. Through shared care pathway with nearest specialist cardiac centre and close collaboration with the specialist cardiologists, we have helped to reduce capacity strains on cardiac centres and prevented unnecessary transfers.

Management of neonates with ventricular septal defects and aortic arch anomalies

Management of neonates with ventricular septal defects and aortic arch anomalies

Bovine arch and carotid artery atherosclerosis: are they related?

ObjectivesThe prevalence of the “bovine” arch in the population is known (8–25%). However, its prevalence in patients with significant carotid atherosclerosis has never been investigated. Altered flow patterns or turbulence that may occur in these patients may play a causative role in the development of atherosclerotic lesions. The primary purpose of this study was to retrospectively compare the prevalence of aortic arch variants in patients with and without significant carotid artery atherosclerosis, as we hypothesize that carotid atherosclerosis may be more prevalent in patients with a bovine arch due to hemodynamic alterations. A secondary objective was to review radiologist reporting of arch anatomy. MethodsSingle-center, retrospective, case-control study in which 79 patients with hemodynamically significant carotid artery atherosclerosis who underwent computed tomography angiography, magnetic resonance angiography, or unenhanced computed tomography (CT) imaging including the aortic arch were identified. These patients were then compared with 95 randomly selected controls without carotid atherosclerosis that underwent similar imaging during the same time period. Images were independently reviewed by two blinded radiologists, who assessed arch anatomy as normal, bovine, or other variant. The original radiology reports were reviewed for reporting of arch anatomy. ResultsIn controls, 70% had normal arch anatomy, and 24% had a bovine arch. Among patients with significant carotid disease, these numbers were 70% and 20%, respectively. There was no statistically significant difference between incidence of arch variants in subjects with and without carotid artery atherosclerosis (P=.97). There was good interreader agreement. Among patients with aortic arch anomalies, 20% of the original radiology reports did not mention arch anatomy. ConclusionsIn our experience, percentage of bovine arch anomalies in patients with significant carotid atherosclerosis is not significantly different from those without disease. Clinicians should be aware of the high prevalence of arch anomalies, which can impact endovascular approach and management, and radiologists should be aware of the clinical importance of reporting such variants.

Three-Dimensional Printing for Perioperative Planning of Complex Aortic Arch Surgery

In this study, we show the use of three-dimensional printing models for preoperative planning of surgery for patients with complex aortic arch anomalies. A 70-year-old man with an extensively arteriosclerotic aneurysm reaching from the ascending aorta to the descending aorta was referred to our center for complete aortic arch replacement. We visualized and reconstructed computed tomography data of the patient and fabricated a flexible three-dimensional model of the aortic arch including the aneurysm. This model was very helpful for the preoperative decision making and planning of the frozen elephant trunk procedure owing to the exact and lifelike illustration of the native aortic arch. Three-dimensional models are helpful in preoperative planning and postoperative evaluation of frozen elephant trunk procedures in patients with complex aortic anatomy.

G349 Managing children with significant congenital cardiac disease outside tertiary cardiac centres: a three-year retrospective study

BackgroundIt has been “standard practice” for antenatal and postnatally diagnosed significant congenital heart disease (CHD) to be managed at tertiary cardiac centres (CC). Capacity constraints in the tertiary cardiac centres...