Aortic Arch Complex Anomalies: 20-Year Experience with Symptoms,Diagnosis, Associated Cardiac Defects,and Surgical Repair

To better understand the clinical presentation and surgical management of children with aortic arch complex anomalies (``vascular rings'), a retrospective study was performed on patients who presented to Children's National Medical Center between the years 1969 and 1989. A total of 59 patients were identified ranging in age at admission from birth to 14 years, of whom 35 (59%) were male and 24 (41%) female. Patients were classified into four major subtypes based on their surgical anatomy, with 29 (49%) patients having right aortic arch and left ductus/ligamentum arteriosus, 21 (36%) double aortic arch, 6 (10%) anomalous left pulmonary artery, and 3 (5%) arch artery anomaly (no ring); 19 patients (32%) had associated cardiac defects. The mean (±SD) age at onset of symptoms was 4.6 ± 14.0 months, and the age at surgical repair was 18 ± 34 months. There were no intraoperative mortalities, but two late deaths occurred. Three (5%) patients had a surgical complication. In contrast to previous studies, the incidence of nonring lesions was lower and associated cardiac defects higher. Forty-nine percent of patients had symptoms present at birth, and patients with associated cardiac disease did not present earlier than those without. In patients with right aortic arch and left ductus/ligamentum arteriosus, few had an anomalous left subclavian artery. Finally, equal dominance of the arches was most frequent in patients with double aortic arch. Aortic arch complex anomalies present symptomatically in a variety of ways, and noninvasive methods are used to identify the specific lesion and associated cardiac defects. Surgical repair is associated with low or no mortality in patients with uncomplicated aortic arch complex anomalies.     

Isolated Innominate Artery in 22q11 Microdeletion

A patient with an isolated left innominate artery (with a right-sided cervical aortic arch) is described. This is the first report of such an anomaly associated with chromosome 22q11 microdeletion. The abnormality represents an interruption in the primitive aortic arch that is atypical for this chromosome deletion.     

Double-Lumen Aortic Arch by Persistence of Fifth Aortic Arch: A New Case Associated with Coarctation

A coarctation of aorta with double-lumen aortic arch due to persistence of an embryonic fifth aortic arch was recognized in a 13-day-old girl and successfully repaired using enlargement of the aorta by side-to-side anastomosis of the fourth and fifth aortic arches.     

Vascular Ring Due to Right Aortic Arch with Mirror-Image Branching and Left Ligamentum Arteriosus: Complete Preoperative Diagnosis by Magnetic Resonance Imaging

Magnetic resonance imaging (MRI) has been increasingly employed in the evaluation of aortic arch abnormalities. We present a rare form of vascular ring, that of a right aortic arch with mirror-image branching and left ligamentum arteriosus, which was clearly defined preoperatively by MRI. The patient subsequently underwent successful surgical division of the vascular ring followed by improvement in respiratory symptoms.     

Cervical Aortic Arch Associated with 22q11.2 Deletion

A 16-year-old boy had cervical aortic arch associated with 22q11.2 deletion. This case is the first one reported of cervical aortic arch in which deletion within the 22q11.2 band was detected by the fluorescent in situ hybridization (FISH) method.     

Right Aortic Arch with Isolation of the Left Subclavian Artery and Bilateral Patent Ductus Arterioses

Of the right aortic arch anomalies, a right arch with isolation of the left subclavian artery is the least common. In a neonate who had a right arch with isolation of the left subclavian artery and bilateral patent ductus arterioses, pulmonary artery steal phenomenon developed after ligation of the right ductus. We performed division of the left ductus and reimplantation of the left subclavian artery into the left common carotid artery.     

Persistent Left Fifth Aortic Arch Associated with Tetralogy of Fallot

A case of persistent left fifth aortic arch, forming a congenital ``double-lumen' aortic arch, has been diagnosed on angiocardiography during life. It appeared as an unusual vascular structure running inferiorly and parallel to the ``real' aortic arch from the innominate artery to the left subclavian artery superior to the pulmonary artery. This anomaly was found in the setting of tetralogy of Fallot, an association never described before, with patent ductus arteriosus (previously reported in most cases). The left aortic arch in this case was not a source of pulmonary circulation, as described in previous cases with pulmonary atresia and ventricular septal defect, but was a systemic-to-systemic connection without functional relevance.     

Patterns of Right Aortic Arch and Mirror-Image Branching of the Brachiocephalic Vessels Without Associated Anomalies

It is unusual to have a right aortic arch with mirror-image branching of the brachiocephalic vessels and no associated congenital cardiac anomalies. Pathogenetic factors of this anomaly, and associated development of the derivatives of the pharyngeal arches, have not been explored extensively. Eleven patients with a mirror-image right aortic arch and no intracardiac anomalies have undergone evaluation at our institution since 1987. Of these, 4 had stenosis (n= 2) or atresia (n= 2) of the proximal left pulmonary artery. These included 2 with bilateral ductus arteriosus. Six patients had a vascular ring formed by a ductus arteriosus or ligamentum arteriosum from the descending aorta to the left pulmonary artery. Six patients were evaluated for deletion within the DiGeorge critical region of chromosome 22q11. All 6 of the patients with a vascular ring underwent division of the ductus arteriosus or ligamentum through a left lateral thoracotomy. None of the patients with stenosis or atresia of the LPA have undergone intervention. Two of the 6 patients who underwent evaluation for chromosome 22q11 deletion were found to have the deletion. At a median follow-up of 7 years (15 months to 12 years), the patients who underwent division of the ring are all alive and asymptomatic. Two of these patients have undergone repeat magnetic resonance imaging, 1 of whom had mild residual tracheal compression. A right aortic arch with mirror-image branching of the brachiocephalic vessels and no associated intracardiac anomalies is extremely uncommon. We have observed two basic patterns of this lesion: (1) with associated abnormalities of the proximal left pulmonary artery, (2) with a vascular ring formed by a ductus arteriosus or ligamentum from the descending aorta to the left pulmonary artery. Pathogenetic considerations are explored, with a focus on flow-related vascular development and the role of deletions within chromosome 22q11.     

Aortic Arch Anomalies Associated with Chromosome 22q11 Deletion (CATCH 22)

Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. Associated congenital heart diseases include tetralogy of Fallot, truncus arteriosus, and ventricular septal defect. Associated anomalies of the aortic arch, aortic branches, ductus arteriosus, and pulmonary arteries are more frequent in patients with the deletion than in those without the deletion. Associated anomalies include right aortic arch, cervical aorta, aberrant origin or isolation of the subclavian artery, the absence of the ductus arteriosus, major aortopulmonary collateral arteries, isolation of the left pulmonary artery, and vascular ring formed by the right aortic arch, retroesophageal aortic arch, and left descending aorta.     

Situs Inversus Totalis and Corrected Transposition of the Great Arteries {I,D,D} in Association with a Previously Unreported Vascular Ring

A 3-month-old girl with ``noisy breathing' was found to have situs inversus totalis, corrected transposition of the great arteries {I,D,D}, and a vascular ring. The ring was composed of a left aortic arch with normal branching pattern and a right ligamentum arteriosum that extended from a diverticulum off the descending aorta and coursed retroesophageal and to the right to join the pulmonary artery. There was no circumflex component of the aorta or aberrant subclavian artery. The descending aorta was left sided. Compression of the esophagus and trachea was noted on contrast esophagram, magnetic resonance imaging (MRI), and at the time of surgery to divide the vascular ring. In association with her corrected transposition, the patient also was shown to have a mild Ebstein's deformity of the right-sided (systemic) atrioventricular valve and electrocardiographic evidence of Wolfe–Parkinson–White syndrome. The combination of situs inversus totalis, corrected transposition of the great arteries {I,D,D}, and an aortic arch anomaly has not been previously reported. In addition, the aortic arch anomaly suggested by MRI imaging and confirmed at surgery has previously only been postulated to exist but to our knowledge never reported.     

Congenital Pulmonary Steal Phenomenon Associated with Tetralogy of Fallot, Right Aortic Arch, and Isolation of the Left Subclavian Artery

Isolation of the left subclavian artery has been reported in cases of tetralogy of Fallot with a right aortic arch. As the isolated left subclavian artery is supplied by the left vertebral artery (in which the blood flow direction is inverted), this anomaly is usually responsible for a congenital subclavian steal phenomenon. In our case the isolated left subclavian artery was connected by a patent ductus arteriosus to the main pulmonary artery. Therefore the left vertebral artery did not supply the distal left subclavian artery but supplied the main pulmonary artery (congenital pulmonary artery steal).     

A rare case of double aortic arch: Right thoracotomy and residual retroesophageal aortic arch

Summary The case of a 2-year-old boy with tetralogy of Fallot and a complete double aortic arch (both arches patent) is reported. The left dominant aortic arch ran retroesophageally to the right and joined with the right smaller arch to form the descending thoracic aorta on the right side. We employed a right thoracotomy and performed a division of the right nondominant arch at the connection with the descending aorta. The surgical implications of an unusual type of double aortic arch are discussed.     

Anomalous Origin of One Pulmonary Artery from the Innominate Artery: A Report of Two Cases

Two children with an anomalous origin of one pulmonary artery from the innominate artery are reported. One was a 15-month-old boy presenting with respiratory distress. He had a right aortic arch and his left pulmonary artery originated from the innominate artery. The other was a 1-month-old girl presenting with congestive heart failure. She had a left aortic arch and her right pulmonary artery originated from the innominate artery. An understanding of the embryological pathogenesis of these anomalies has significant therapeutic implications.     

Right circumflex retro-oesophageal aortic arch with coarctation of a high-positioned right arch

We present a rare case of right circumflex retro-oesophageal aortic arch with coarctation of a high-positioned right arch. A 7-month-old boy presented with a cardiac murmur. Cardiac situs was normal and there was no evidence of an intracardiac shunt or patent ductus arteriosus. MR aortography revealed a right aortic arch that was high-positioned, tortuous and narrowed. This right aortic arch crossed the midline behind the oesophagus and continued as a left-sided descending aorta. The left common carotid and subclavian arteries arose from a large branching vascular structure that derived from the top of the left-sided descending aorta. The right common carotid artery arose from the ascending aorta. The proximal portion of the right common carotid artery showed very severe stenosis and poststenotic dilatation. The right subclavian artery originated distal to the narrowed and tortuous segment of the aortic arch.     

Diagnostic Dilemma: Left Aortic Arch with Right Descending Aorta—A Rare Vascular Ring

An infant had a rare type of vascular ring comprising a left aortic arch, a retroesophageal transverse aorta, a right descending aorta, and a right ligamentum arteriosum. Noninvasive studies including echocardiography with Doppler color flow mapping and magnetic resonance imaging were diagnostic of a vascular ring. However, only angiography prospectively established the exact type of ring. This report discusses the pitfalls of noninvasive studies used to diagnose unusual arch anomalies.     

Markedly hypoplastic circumflex retroesophageal right aortic arch: MR imaging and surgical implications

Background Circumflex retroesophageal right aortic arch with a markedly hypoplastic retroesophageal segment is a rare anomaly of the aortic arch. Adequate surgical management relies on precise diagnosis, which might not be feasible with echocardiography. Objective To demonstrate the utility of MR imaging in establishing the diagnosis and to describe potential pitfalls in making the diagnosis. Materials and methods Three patients with a circumflex retroesophageal right aortic arch with a markedly hypoplastic retroesophageal segment were retrospectively evaluated. All patients underwent evaluation by echocardiography and MR imaging. The MR imaging consisted of 3-D MR angiography in two patients and fast gradient recalled echo with cardiac-triggered segmented acquisition in one patient. Surgical confirmation was obtained on all three patients. Results The arch anatomy was accurately depicted in all three patients by MR imaging and in none of the patients by echocardiography. Conclusion MR imaging is extremely useful in establishing the diagnosis of markedly hypoplastic retroesophageal circumflex right aortic arch and thus helps in surgical planning.     

Contrast-enhanced magnetic resonance angiography of persistent fifth aortic arch in children

Background Cine angiography and echocardiography have been utilized to diagnose congenital aortic arch anomalies. However, the visualization of great vessels by echocardiography is limited, while cine angiography requires cardiac catheterization with ionizing radiation. Contrast-enhanced magnetic resonance angiography (MRA) is a noninvasive modality suitable for visualization of congenital aortic arch anomalies. Objective To evaluate the utility of contrast-enhanced MRA in the diagnosis of persistent fifth aortic arch, a rare congenital aortic arch anomaly, and to compare the diagnostic accuracy of MRA with that of echocardiography and cine angiography. Materials and methods In four pediatric patients, contrast-enhanced MRA studies were performed for diagnosing persistent fifth aortic arch. The findings of MRA were compared with echocardiographic findings and confirmed by cine angiography and operation. Results Transthoracic surface echocardiography noted an aberrant vessel arising from the ascending aorta in two of four patients; the etiology of this vessel was uncertain. In the other two patients a diagnosis of coarctation was made. Of the four patients, only one was diagnosed with interruption of the aortic arch. Contrast-enhanced MRA clarified uncertain echocardiographic findings, enabling the correct diagnosis of persistent fifth aortic arch with fourth aortic arch interruption in all four patients. Conclusion Contrast-enhanced MRA is a safe, accurate, and fast imaging technique for the evaluation of persistent fifth aortic arch and may obviate the need for conventional cine angiography. Cardiac catheterization may be reserved for some types of complicated congenital heart disease and for obtaining hemodynamic information.     

Biphasic flow velocity pattern in the descending aorta in double aortic arch

We report a case of double aortic arch in which the biphasic flow velocity pattern in the descending aorta changed to a monophasic flow velocity pattern after corrective surgery. The hypoplasia of left aortic arch might prolong the acceleration time of the flow velocity in the left aortic arch.     

Transcarotid Balloon Valvuloplasty with Continuous Transesophageal Echocardiographic Guidance for Neonatal Critical Aortic Valve Stenosis: An Alternative to Surgical Palliation

Neonatal critical aortic valve stenosis is a life-threatening malformation if untreated. Before the late 1980s, the preferred treatment was surgical valvotomy; however, operative mortality was high. Early reports of transcatheter balloon dilation were encouraging, although femoral artery damage and aortic valve insufficiency were procedural limitations. With new balloon catheter technology, transumbilical, transvenous, and transcarotid approaches have been advocated, although a comparison with recent surgical results has not been performed. We compared all neonates who presented to our institution since 1985 with the diagnosis of critical aortic stenosis. Ten patients underwent surgical transventricular valvotomy and 13 patients underwent balloon valvuloplasty via a right carotid cutdown with continuous transesophageal echocardiographic guidance. Prior to intervention, all patients had either left ventricular dysfunction, an aortic valve gradient >100 mmHg, significant mitral valve insufficiency, and/or ductal dependent systemic blood flow. All patients had successful relief of aortic valve obstruction with normalization of left ventricular function and successful discontinuation of prostaglandin E₁. Use of continuous transesophageal echocardiographic guidance resulted in fluoroscopic exposure of only 12 ± 8 minutes. At the latest follow-up, a similar proportion of patients has required additional aortic valve procedures (38% vs 25%) and overall mortality (20% vs 15%) is similar. In the transcarotid group, 9 of 13 patients (69%) have a normal appearing right carotid artery by Duplex imaging, and no neurologic events have been reported. Balloon aortic valvuloplasty via a right transcarotid approach is safe, simplifies crossing the valve, and is effective for the initial palliation of neonatal critical aortic stenosis. The use of transesophageal echocardiographic guidance reduces fluoroscopy exposure, enables accurate assessment of hemodynamics without catheter manipulation or angiography, and avoids femoral artery injury.     

Rare types of aortic arch anomalies

Summary Rare types of aortic arch malformations include isolation of the right or left subclavian arteries in conjunction with a left or right aortic arch respectively. Isolation of the innominate or carotid arteries and an aberrant left innominate artery may exist in association with a right aortic arch. Other anomalies are persistent fifth aortic arch, subclavian artery as the first branch of the aortic arch, pulmonary artery, and ductus arteriosus sling. The angiocardiographic features and embryology of each of these malformations are discussed.