Hypoplastic right retro-oesophageal aortic arch: similarities to interrupted aortic arch.

At echocardiography a dysmorphic neonate was found to have a hypoplastic mitral valve, left ventricle, and ascending aorta with interruption of the aortic arch between the left common carotid and the left subclavian arteries--the left subclavian artery arose from a normal sized left descending aorta. Cardiac catheterisation and subsequent necropsy confirmed this arrangement but also showed a tortuous right retro-oesophageal aortic arch. This arch was severely hypoplastic distal to the right subclavian artery. These cardiovascular anomalies occurred in the child of a family in which other members showed the velo-cardio-facial syndrome, a condition known to be associated with right aortic arch. This aortic arch arrangement may be impossible to distinguish from simple aortic interruption by echocardiography alone.     

Hypoplastic right retro-oesophageal aortic arch: similarities to interrupted aortic arch

At echocardiography a dysmorphic neonate was found to have a hypoplastic mitral valve, left ventricle, and ascending aorta with interruption of the aortic arch between the left common carotid and the left subclavian arteries--the left subclavian artery arose from a normal sized left descending aorta. Cardiac catheterisation and subsequent necropsy confirmed this arrangement but also showed a tortuous right retro-oesophageal aortic arch. This arch was severely hypoplastic distal to the right subclavian artery. These cardiovascular anomalies occurred in the child of a family in which other members showed the velo-cardio-facial syndrome, a condition known to be associated with right aortic arch. This aortic arch arrangement may be impossible to distinguish from simple aortic interruption by echocardiography alone.     

Interrupted aortic arch. A series of 15 patients

Between 1983 and 1989, 15 children underwent surgical repair of interrupted aortic arch at 1 to 20 days of age. The anatomical form was a Celoria and Patton type B in all patients with an associated perimembranous ventricular septal defect in all but one who had multiple ventricular septal defects, and patent ductus arteriosus. Six children had a retro-esophageal right subclavian artery, two had subaortic stenosis and two had a right-sided descending thoracic aorta. In two children with severe hypoplasia of the ascending aorta the repair was performed in one stage with two deaths due to left ventricular failure. In the other B cases, a two-stage repair was carried out. The reconstruction of the aortic arch varied according to the individual case. All children had pulmonary artery banding. Seven children survived longer than 30 days. Six of them later underwent a complete repair. The only survivors were those patients in whom the neo-aortic arch grew harmoniously. The authors conclude that: a two-stage repair gave disappointing results in this series of consecutive patients, mainly because of the poor quality of the reconstruction of the aortic arch by thoracotomy.     

Determinants of survival following repair of interrupted aortic arch in infancy.

Between January 1971 and March 1987, surgery was performed in 26 infants with interrupted aortic arch. At operation the 14 boys and 12 girls weighted between 1.71 and 4.23 kg (mean +/- SD = 3.1 +/- 0.63 kg) and ranged in age from 2 to 90 days (13 +/- 18 days). The interruption was distal to the left subclavian artery in 4 (15%), between the left carotid and subclavian arteries in 20 (77%) and between the brachiocephalic (innominate) and left carotid arteries in 2 (8%). Associated complex cardiac lesions in 8 patients included complete transposition (2), common arterial trunk (2), aortopulmonary window (2), double inlet left ventricle (1) and tricuspid atresia (1). The remaining patients had an isolated ventricular septal defect. The arch was reconstructed with a prosthetic conduit in 14 patients; by a direct anastomosis in 6; using the subclavian artery in 3; and with the pulmonary trunk and the arterial duct in 2. Twenty patients (77%) underwent palliative surgery as the first stage of management, and banding of the pulmonary trunk was also performed in 16 of these. Five patients (19%) underwent primary complete repair of the interruption and intracardiac anomalies. One patient (4%) died soon after thoracotomy for palliative surgery. Of the 15 (57%, 70% confidence limits CL = 46-69%) early deaths, 7 occurred in patients with complex associated defects and 4 occurred when single stage repair was attempted. Survival following first-stage palliative surgery for arch interruption with isolated ventricular septal defect was 64% (9/14) [70% CL = 47-79%]. All of these patients subsequently underwent complete repair. Chi-squared and t-tests showed the year of operation and the type of operation (two-stage repair) to be associated with improved survival. It is concluded that a two-stage repair of interrupted aortic arch offers a reasonable alternative to primary complete correction and will lead to satisfactory subsequent repair in most cases.     

Interrupted right aortic arch in DiGeorge syndrome

The clinical and necropsy findings in four cases of interrupted right aortic arch and right descending aorta associated with DiGeorge syndrome (congenital absence or hypoplasia of the thymus and parathyroids) are described. All patients had a mirror image of type B interruption, namely a right aortic arch with reversed branching pattern and an interruption between the right common carotid and right subclavian artery. In two patients there was a doubly committed subarterial ventricular septal defect and in the two other patients there was a perimembranous septal defect. Three patients had a bicuspid aortic valve. In a consecutive series of 185 necropsies in infants and children with congenital heart disease there were no cases of interrupted right aortic arch that were not associated with DiGeorge syndrome. These observations and previous reports indicate that the concurrence of these two rare conditions is more than fortuitous. In patients with an interrupted aortic arch the clinician should be aware of the common association with DiGeorge syndrome. If the interruption is associated with a right-sided descending aorta it is highly probable that the patient has DiGeorge syndrome.     

Interrupted right aortic arch in DiGeorge syndrome.

The clinical and necropsy findings in four cases of interrupted right aortic arch and right descending aorta associated with DiGeorge syndrome (congenital absence or hypoplasia of the thymus and parathyroids) are described. All patients had a mirror image of type B interruption, namely a right aortic arch with reversed branching pattern and an interruption between the right common carotid and right subclavian artery. In two patients there was a doubly committed subarterial ventricular septal defect and in the two other patients there was a perimembranous septal defect. Three patients had a bicuspid aortic valve. In a consecutive series of 185 necropsies in infants and children with congenital heart disease there were no cases of interrupted right aortic arch that were not associated with DiGeorge syndrome. These observations and previous reports indicate that the concurrence of these two rare conditions is more than fortuitous. In patients with an interrupted aortic arch the clinician should be aware of the common association with DiGeorge syndrome. If the interruption is associated with a right-sided descending aorta it is highly probable that the patient has DiGeorge syndrome.     

Cervical aortic arch with ventricular septal defect. A differential diagnosis from interrupted aortic arch.

A case of right cervical aortic arch with a large ventricular septal defect and a bicuspid aortic valve is reported. The angiographic diagnosis was interruption of the aortic arch type II, with aberrant right subclavian artery, a closed ductus arteriosus and retrograde vertebral-subclavian flow to the descending aorta. The cervical arch, demonstrated post mortem, was located high and deep in the neck. This differential diagnosis may have potential importance, as reported experience shows that a surgical aortic anastomosis is not required in cervical aortic arch.     

Anomalous origin of the left pulmonary artery from the ascending aorta in two children with pulmonary atresia, sub-aortic ventricular septal defect and right-sided major aorto-pulmonary collateral arteries

We report two rare cases of an anomalous origin of the left pulmonary artery (AOLPA) from the ascending aorta, associated with pulmonary atresia, a ventricular septal defect and a left aortic arch. The cases are unusual because AOLPA is more commonly associated with a right aortic arch and it is more usual for the right pulmonary artery to originate anomalously from the ascending aorta. The pulmonary blood supply to the right lung in both patients was absent and provided instead by major aorto-pulmonary collateral arteries which were stenosed at multiple levels. The AOLPA in both patients originated from the postero-lateral aspect of the ascending aorta just distal to the sino-tubular junction. Only one patient showed the more common association of an unusual aortic arch branching pattern in the form of an anomalous right subclavian artery. Neither patient was in heart failure and the chest X-ray in both revealed differential pulmonary perfusion with prominent vascularity of the left lung. Cardiac catheterisation showed systemic pressures within the anomalous left pulmonary artery. Karyotyping revealed normal chromosomes, and fluorescent in-situ hybridisation done in one patient was negative for chromosome 22q11.2 microdeletion. Both patients have been managed conservatively.     

Interruption of the aortic arch in adults.

The interruption of the aortic arch is a rare cardiac congenital disease; such patients may occasionally survive to adulthood without surgery. The associated intracardiac malformations may modify survival. Our aim is to report three young adults (18-19 years of age) with interruption of the aortic arch. Two had type C, and the other had type B with subpulmonic ventricular septal defect and pulmonary valve insufficiency. We review 106 cases collected from the medical literature into 3 groups: 1) the whole group of patients; 2) patients with isolated interruption of the aortic arch, and 3) patients with interruption of the aortic arch associated with ventricular septal defect. In the whole group we found 18 cases of interruption of the aortic arch type A, and 25 cases of interruption of the aortic arch type B; 37 cases of isolated interruption of the aortic arch and 43 cases associated with ventricular septal defect. Fifty percent of the patients died before 15 days of life (0.042 years). According to the cumulative frequency graphic, only 5% of the patients survived beyond the age of 5 years. We found no information to relate patient's survival rate and anatomic type of the interruption of the aortic arch. From adolescence, the survival of the patients with interruption of the aortic arch associated to septal ventricular defect was 7%, and a 14% survival was found in patients with isolated interruption of the aortic arch. No statistical difference was found between the means of the ages of these two groups (P > 0.25).     

Cardiac malformations in the velocardiofacial syndrome

A similar pattern of congenital anomalies found in 27 children, 9 male and 18 female, aged 2 weeks to 17 years, allows the conclusion that they represent a newly recognized malformation syndrome. All patients had velopharyngeal insufficiency, a submucous or overt cleft of the secondary palate and learning disabilities. A similar facies, characterized by a long vertical face, a large fleshy nose with broad nasal bridge, flattened malar region, narrow palpebral fissures and deep overbite with retruded mandible, was usually present. Other noncardiac anomalies also occurred frequently. Twenty-three (85 percent) had congenital cardiovascular malformations whose occurrence as single or combined lesions far exceeded the expected incidence in children with congenital heart disease. A ventricular septal defect was present in 15, tetralogy of Fallot in 5. Prolapse of the right aortic cusp was present in two patients with a ventricular septal defect, and aortic valve disease with insufficiency in one patient with tetralogy. The aortic arch was right-sided in 12 patients, in conjunction with a ventricular septal defect in 5, in association with tetralogy of Fallot in 4 and in the absence of associated cardiac disease in 3. The right aortic arch descended on the right in 10 patients; in 2 with a ventricular septal defect it crossed retroesophageally to descend on the left, and in one of these it presented as the “third aortic arch syndrome.” Aberrant origin of the left subclavian artery was present in five patients with a right aortic arch. A patent ductus arteriosus had caused congestive heart failure in infancy in one patient with a small ventricular septal defect; three others with a ventricular defect had additional clinically minor anomalies. Two children were brother and sister. Their mother and the mothers of two other children showed evidence of the same syndrome, suggesting the possibility of autosomal dominant or X chromosome-linked dominant transmission.     

Isolated origin of the left subclavian artery from the left pulmonary artery

We describe two children with isolated origin of the left subclavian artery from the left pulmonary artery detected by echocardiography during the assessment of their congenital cardiac malformations. Both patients demonstrated pre-operative evidence of subclavian steal. This entity results from persistence of the dorsal segment of the sixth left arch, with regression of the left fourth arch and interruption of the left dorsal arch distal to the origin of the seventh left intersegmental artery. The significance of this finding relates to the potential for pulmonary overcirculation, which could have significant post-operative ramifications if not detected prior to surgical repair of an associated cardiac malformation. This entity differs from cases with a right aortic arch and aberrant left subclavian artery which has the potential to form a vascular ring, unlike cases with isolated origin of the left subclavian artery from the pulmonary artery that do not cause compression of the airway.     

Rapid formation of collateral arteries in a neonate with interruption of the aortic arch

In a neonate born prior to term with a weight of 1825 grams, and diagnosed prenatally as having atrioventricular septal defect and Down's syndrome, we found the aortic arch to be interrupted between the left carotid artery and the left subclavian artery, with the arterial duct being the only route of distal perfusion. Three days later, however, echocardiographic interrogation revealed marked collateral connections between the aortic arch and the descending aorta, the picture then mimicking coarctation rather than interruption of the aortic arch. The rapid development of the collateral arteries was confirmed by magnetic resonance imaging and during cardiac surgery.     

Interrupted aortic arch--anatomical features of surgical significance

Analysis of 26 autopsy specimens with interruption of the aortic arch has led to a clearer understanding of the vital importance of associated cardiovascular abnormalities. In all cases there was an associated patent ductus arteriosus "supporting" the distal systemic circulation. "Proximal" septal defects, 22 ventricular septal defects and 3 aorto-pulmonary windows, were found in all but one specimen. The infundibular component of the ventricular septum was displaced posteriorly and leftward in 9 hearts resulting in significant left ventricular outflow obstruction in 8. In one specimen the infundibular septum was displaced anteriorly giving the effect of a "Fallot type" obstruction to the right ventricular outflow tract. Abnormal ventriculo-arterial connections were found in 7 hearts; 2 with discordant connection, 2 with double outlet, and 3 with single outlet of the heart. In 6 specimens there was an aberrant origin of the right subclavian from the distal aorta passing behind the esophagus to the right side. Various other arterial abnormalities were identified including a truncus arteriosus with separate but "transposed" origins of the pulmonary arteries. In short, in these hearts there were no examples of the rare situation where aortic arch interruption exists in isolation. This study therefore makes it very clear that a detailed understanding of associated anatomical abnormalities must accompany any attempt at surgical correction. Certainly in many of these cases management of the associated lesion will present more of a challenge than the difficult problem of dealing with the interrupted arch itself.     

Type B Interrupted Left Aortic Arch with Isolated Right Subclavian Artery

Interrupted aortic arch is a rare congenital heart malformation occurring in approximately three per 1 million births. Type B interrupted aortic arch (interruption between the second carotid artery and the ipsilateral subclavian artery) is the most common of three major types (A, B, and C). We report an extremely rare finding: a case of left‐sided type B interrupted aortic arch with isolation of the right subclavian artery (origin from the right pulmonary artery).     

Right aortic arch with retro-esophageal component. 2 cases]

Right-sided aortic arch with a retro-oesophageal segment is much rarer than right-sided aortic arch without a retro-oesophageal segment. As opposed to the latter situation which is always associated with congenital heart disease, it is usually an isolated finding. The left subclavian artery arises from a posterior diverticulum and may be stenosed at its origin, giving rise to a systolic murmur as in one of the reported cases, or to a subclavian steal syndrome. The ligamentum arteriosum completes the aortic ring and may give rise to respiratory problems at varying ages and of variable severity, sometimes attributed to asthma. In one of the cases followed up over 15 years chronic respiratory problems and late tracheal lesions were observed. Although the possibility of a double aortic arch may be raised, early surgical treatment is desirable.     

Coarctation of aorta with right aortic arch. Report of surgical correction in 2 cases: one with associated anomalous origin of left circumflex coronary artery from the right pulmonary artery.

Two patients with right aortic arch, anomalous left subclavian artery, and coarctation of theaorta, have been operations for the relief of coarctation, successful in one but only partially successful in the other: in one case, a 'dacron' patch was inserted into the narrowed segment, but a mild recurrence of coarctation was found a year later; in the other, the proximal segment of the anomalous left subclavian artery was used for the repair, with complete relief of the coarctation, both immediately and at late follow-up. The first case had multiple associated congenital abnormalities, including anomalous origin of the left circumflex coronary artery from the right pulmonary artery, which was also corrected surgically: this anomaly has only been recorded once hitherto. The second had facial haemangiomata and a small ventricular septal defect. Four previously reported cases of coarctation and right arch are reviewed. These 6 cases are considered in the light of current views on the development and classification of aortic arch anomalies.     

Atresia of the aortic arch, with a collateral artery from the right subclavian artery supplying the descending aorta

An infant of 2 months presented with absence of the femoral pulses, albeit with no signs of cardiac failure. The mother was known to have ingested Valproate during pregnancy. Echocardiography showed the aortic arch to be interrupted between the left common carotid and left subclavian arteries, so-called type B interruption, in the setting of an intact ventricular septum. Angiography, and multislice computed tomography, revealed the descending aorta to be supplied by a collateral artery originating from the right subclavian artery. Corrective surgery was successfully performed, but revealed an atretic segment of the arch at the site of interruption of flow.     

Airway compression by major aortopulmonary collaterals with 22q11 deletion

Hypoxic choking episodes due to airway obstruction occurred frequently from 4 months of age in a boy with 22q11 deletion, pulmonary atresia, ventricular septal defect, absent central pulmonary artery, tracheobronchomalacia, and an aberrant right tracheal bronchus. The tracheobronchial tree was compressed by a posteriorly displaced ascending aorta and right aortic arch with aberrant left subclavian artery and major aortopulmonary collateral arteries. Single-stage unifocalization and intracardiac repair plus aortopexy at 8 months resulted in resolution of the respiratory distress and heart failure.     

Cervical origin of the right subclavian artery in aortic arch interruption: pathogenesis and significance

In 14 of 21 infant hearts (66%) with aortic arch interruption between the left common carotid and left subclavian arteries (type B of Celoria and Patton), the right subclavian artery (SA) arose anomalously. In 9 (43%) it arose from the descending aorta and in 1 heart from the right pulmonary artery (5%). In 4 hearts (19%), it arose high in the neck from the right common carotid artery as a trifurcation with the internal and external carotid arteries, an anomaly not previously reported. In these latter cases, the SA descended down the neck to enter the right arm, with the right recurrent laryngeal nerve coursing around its take-off. Anomalous origin of the right SA is common in type B aortic arch interruption, and we believe this to be the result of a strong tendency for both fourth aortic arches to disappear early in development. If involution occurs in embryos of less than 14 mm crown-rump length, before the right ductus caroticus and dorsal segment of the right sixth arch have become attenuated, 3 alternate routes are available to the embryo to form a right SA.     

Distal aortopulmonary septal defect,aortic origin of the right pulmonary artery,intact ventricular septum,patent ductus arteriosus and hypoplasia of the aortic isthmus: A newly recognized syndrome

The association of distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, intact ventricular septum and Interruption or coarctation of the aortic isthmus has not previously been reported as a syndrome. This combination of anomalies was encountered in five new patients and was previously reported in three. Two patients have undergone surgery with successful results. In contrast to the sagittally oriented conventional proximal aortopulmonary septal defect, the patients in this series had a more distal type of defect, possibly representing a partial persistence of the common arterial trunk. The pulmonary arterial bifurcation may malattach to this undivided truncal segment and, as a result, the right pulmonary artery may be partially or completely shifted into the aorta. This abnormal right pulmonary arterial origin may lead to “steal” from the aortic flow during embryogenesis and to hypoplasia of the aortic arch. This concept is supported by the angiographic observation that the greater the rightward displacement of the right pulmonary artery, the greater the hypoplasia of the arch. The diagnostic angiographic sign is a strikingly high origin of the right pulmonary artery together with aortic arch hypoplasia or atresia. Closure of the aortopulmonary septal defect with implantation of the right pulmonary artery in the pulmonary trunk and repair of the aortic arch anomaly is the recommended surgical treatment.