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.     

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor

One hundred sixty-one cases of DiGeorge syndrome (111 previously reported in which details concerning individual patients were given and 50 observed) were analyzed for occurrence and type of cardiovascular anomalies. Only 5 patients had a normal heart. Interrupted aortic arch type B was the major anomaly in 48 patients and persistent truncus arteriosus in 37. Therefore, in about half of the patients with DiGeorge syndrome the major anomaly was one that is rare. Conversely, of those patients with interrupted aortic arch, 68% had DiGeorge syndrome, as did 33% of all patients with truncus arteriosus. Although tetralogy of Fallot was also seen often in DiGeorge syndrome (10 patients), these cases represented less than 2% of the total number of cases of tetralogy of Fallot. Similarly, less than 1% of children with isolated ventricular septal defect or transposition of the great arteries had DiGeorge syndrome. The primary cardiovascular anomaly always involved the aortic arch system or the arterial pole of the heart. Recent studies show that neural crest cells play a crucial role in development of pharyngeal (bronchial) pouch derivatives, e.g., thymus and parathyroid glands, as well as the aortic arches and the truncoconal part of the heart. These studies and present observations support the view that DiGeorge syndrome and the associated cardiovascular anomalies are due to an abnormal developmental process involving the neural crest. Curiously, no instances of aortopulmonary septal defect or anomalous origin of a pulmonary artery from the ascending aorta (hemitruncus) have been associated with DiGeorge syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)     

Complete repair of the interrupted aortic arch by an anterior approach. Apropos of 9 cases

Interrupted aortic arch is a duct-dependent heart disease, and this is why the use of prostaglandins E, which keep the ductus arteriosus open to feed the descending aorta, has transformed its formerly sombre prognosis. The authors report the cases of 9 neonates and infants presenting with interrupted aortic arch associated with ventricular septal defect who underwent total repair of the malformations under extracorporeal circulation. Five children were less than 10 years' old. The aortic lesions were of type A in 2 cases (interruption distal to the left subclavian artery) and of type B in 7 cases (interruption between the left carotid and subclavian arteries). In the second group the lesions were of type B1 in 5 cases (without retro-oesophageal right subclavian artery) and of type B2 in 2 cases (right retro-oesophageal artery distal to the interruption). There was one death (11 p. 100). So far, no child has been reoperated upon for residual aortic obstruction or reopened ventricular septal defect. This technique of total repair in one stage, with closure of the ventricular septal defect, seems to be preferable to the two-stage technique in which stage one includes, in addition to aortic arch repair, cerclage of the pulmonary artery, a procedure with numerous disadvantages and a higher overall mortality rate.     

Interruption of the aortic arch at the isthmus with DiGeorge syndrome and 22q11.2 deletion.

A 6-day-old male with interruption of the aortic arch at the isthmus (type A) had the typical phenotype of DiGeorge syndrome. There was also a doubly committed juxta-arterial ventricular septal defect and an unobstructed left ventricular outflow tract. Hypoplasia of the thymus was confirmed during a modified Blalock-Park operation. He had persistent hypocalcemia, and was susceptible to infection. He was subsequently revealed by the use of fluorescence in situ hybridization analysis to have 22q11.2 deletion. Interruption of the aortic arch at the isthmus is presumed to reflect abnormal fetal hemodynamics, and is considered a distinct pathogenetic entity from interruption between the left common carotid and subclavian arteries, the latter being the variant more frequently associated with DiGeorge syndrome. In our case, the 22q11.2 deletion likely played a major role in the etiology of the interrupted aortic arch.     

Echocardiographic assessment of interrupted aortic arch

BACKGROUND: In patients with interrupted aortic arch echocardiography provides detailed information about the anatomy of the aortic arch and the associated cardiac anomalies. Only a few reports have evaluated the reliability of this non-invasive diagnostic procedure by correlation with angiographic and surgical findings. METHODS: From 1988 through 1993, 45 infants with interrupted arch underwent surgical repair (mean age 13.02 days). Of the patients, 33 had interruption of the arch between the left common carotid and subclavian arteries; 25 patients had a ventricular septal defect, and the remaining 20 had coexisting complex congenital heart defects. Preoperative diagnosis was made exclusively by echocardiography in 25 of the patients. Accuracy of echocardiographic diagnosis was evaluated retrospectively by comparing preoperative studies with angiography and surgical reports. We then investigated whether the morphologic features of the interrupted arch might influence surgical procedure or outcome. RESULTS: Intracardiac anatomy was accurately diagnosed by echocardiography in all cases; in 2 patients angiography provided additional information concerning the morphology of the aortic arch. Operative notes described differences in morphology of the arch in 7 patients, but these did not influence the surgical procedure. Direct anastomosis of the interrupted segments was possible in 38 patients, and 36 patients underwent primary intracardiac repair. Echocardiographic measurements revealed that the diameter of the ascending aorta was related to the number of vessels originating from the proximal aortic arch. The distance between the interrupted segments was significantly different according to the site of interruption, but not between cases with an isolated ventricular septal defect versus those with complex heart disease. It did not influence the method of arch repair, nor was it related to recurrent or residual obstruction. CONCLUSION: Preoperative echocardiography offers accurate and complete diagnosis in the critically ill neonate with interrupted aortic arch and associated intracardiac abnormalities.     

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot.     

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).     

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.     

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.     

Left common carotid artery arising from the pulmonary artery in a patient with DiGeorge syndrome.

A female infant, born at 33 weeks' gestation with tetralogy of Fallot, died of severe perinatal asphyxia 6 hours after birth. Necropsy disclosed two associated vascular anomalies: a right aortic arch with a left common carotid artery arising from the pulmonary artery (isolated left common carotid artery) and an aberrant left subclavian artery arising from the descending aorta. Agenesis of the thymus and parathyroid gland was also found, suggesting that the child also had DiGeorge syndrome. Origin of the left common carotid artery from the pulmonary artery is exceedingly rare. When planning surgical treatment it is important to be aware of the possibility of this anomaly occurring in association with congenital heart disease, particularly in the presence of tetralogy of Fallot, right sided aortic arch, or DiGeorge syndrome.     

Two-dimensional echocardiographic features of interruption of the aortic arch

The 2-dimensional echocardiographic features of interruption of the aortic arch are presented based on analysis of the echocardiograms and angiograms from 8 infants: 2 with type A and 6 with type B interruption. Each infant had a patent ductus arteriosus, 6 had a conoventricular septal defect with leftward deviation of the conal septum, 1 had truncus arteriosus with truncal valve stenosis, and 1 had a distal aortopulmonary septal defect with an intact ventricular septum. Echocardiographic images obtained from the suprasternal notch or from a high parasternal approach demonstrated the interruption of the aortic arch and continuation of the patent ductus arteriosus into the descending aorta. These findings were compared with those in infants with aortic atresia and a hypoplastic ascending aorta or discrete coarctation of the aorta with tubular hypoplasia of the aortic arch. Types A and B interruption of the aortic arch were easily differentiated and the caliber of the patent ductus arteriosus was assessed. The characteristic conoventricular septal defect was readily visualized from an apex 2-chamber view or from a subcostal sagittal plane view. With this information subsequent angiography can be more expeditiously performed in this group of critically ill infants.     

A case report of interrupted aortic arch without patent ductus arteriosus and with double‐outlet right ventricle

A case of interruption of the aortic arch with double‐outlet right ventricle is reported. Although the aortic arch was interrupted, there was no direct artery to supply blood to the descending aorta. However, a feeder vessel from the neck was found to be connected to the proximal descending aorta.     

Association of interrupted aortic arch with malformations producing reduced blood flow to the fourth aortic arches

Interrupted aortic arch is a rare congenital malformation of the great arteries with loss of continuity between the proximal portion of the aortic arch and the descending aorta, which is usually supplied by a patent ductus arteriosus. The hearts of 12 patients with interrupted aortic arch listed in the autopsy files of The Johns Hopkins Hospital were evaluated. Four categories were identified. Seven hearts with normal outflow tract relations had significant pulmonary arterial override of a ventricular septal defect and thus received part of left ventricular and all of right ventricular ejection flow; flow into the aorta was correspondingly reduced. Two hearts had mitral valve obstruction with decreased left heart flow. Two hearts had double inlet left ventricle and transposed great arteries with the aorta originating from a small anterior conal chamber. One heart had a truncus malformation with a disproportionately large flow entering the pulmonary arterial division. In each of these hearts, the pattern of the outflow tracts and associated malformations suggested that there was a preferential flow of blood into the sixth arches and correspondingly a reduced flow Into the fourth arches at the time of normal disappearance of components of the embryonic aortic arch system. Thus, interrupted aortic arch may simply be disappearance of the normally persisting connection between the left fourth and sixth arches as a result of flow imbalance in early cardiogenesis.     

复杂性动脉导管未闭的外科治疗

目的 :介绍复杂性动脉导管未闭 (PDA)诊断和手术治疗。方法 :采用胸骨正中切口。一期治疗PDA和心内伴发畸形。依据导管粗细 ,肺动脉扩张程度 ,采用结扎法和深低温低流量法经肺动脉缝闭PDA。要确认PDA周围的解剖 ,包括主动脉、左、右肺动脉 ,以免误扎。结果 :本组 72例 ,女性占6 7% ;PDA直径 0 3～ 1 8cm。伴发心内畸形中以室间隔缺损为主占 6 0 % ,法洛四联症 18%。死亡 1例 ,系合并室间隔缺损伴主动脉弓离断 ,误扎生命依赖导管。结论 :一期治疗PDA及伴发的心内畸形 ,避免二次手术的损伤 ,为安全、有效的治疗方法。及时发现恰当处理PDA ,决定治疗的结果 ,需特别引起重视。     

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.     

Morphology of ventricular septal defect associated with coarctation of aorta.

It is now well established that the morphology of the ventricular septal defect associated with interrupted aortic arch is such as to compromise blood flow to the ascending aorta. Though there is some evidence that a similar mechanism may be operative in coarctation with ventricular septal defect, we are unaware of any necropsy study of this hypothesis. We therefore studied 25 hearts from the Heart Museum of Children's Hospital of Pittsburgh with coarctation and ventricular septal defect. Four had a malalignment defect with left ventricular outflow tract obstruction such as is seen in cases with interruption. Twenty of the remaining cases had a particular form of perimembranous defect with aortic overriding. The defects were partially closed by tricuspid valve tissue, the left ventricular outflow tract being further narrowed by various anatomical lesions. In addition, mitral valve malformations were present in 14 cases. The anatomy of the group as a whole suggests a possible reduction of aortic blood flow during fetal development. The clinical implications of these findings remain to be evaluated.     

Interrupted aortic arch in adulthood

Interrupted aortic arch is one of the rarest anomalies among the congenital cardiac defects. Patients must be treated early in life, otherwise death is inevitable. Reports on adult patients with aortic interruption are very rare in the literature. In this report, we present a 21-year-old patient with type A interrupted aortic arch. The patient underwent successful anatomical reconstruction of the descending aorta.     

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.     

Aortic valve replacement in an adult 20 years after a single-stage extra-anatomic repair of an interrupted aortic arch

Interrupted aortic arch is a rare congenital malformation, which is defined as a loss of luminal continuity between the ascending and descending aorta. Usually, there is a considerable distance between the ascending and descending parts of the aorta. According to the classification system of Celoria and Patton, three subtypes have to be differentiated. We describe a single-stage, extra-anatomic repair in an adolescent patient with a rare type C (the interruption is proximal to the left common carotid artery) interrupted aortic arch and his subsequent aortic valve replacement 19 years later.