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Ann Thorac Surg 1998;65:1178-1185
© 1998 The Society of Thoracic Surgeons

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Current Review

Cantrell’s Syndrome: A Challenge to the Surgeon

^a Thoracic and Cardiovascular Surgery, RWTH Aachen, Aachen, Germany
^b Pediatric Cardiology, Rheinisch-Westfälische-Technische Hochschule Aachen, Aachen, Germany
^c Pediatric Cardiology, Zentralkrankenhaus "Links der Weser," Bremen, Germany
^d First Department of Surgery, Osaka University Medical School, Osaka, Japan

Address reprint requests to Dr Vazquez-Jimenez, Thoracic and Cardiovascular Surgery, Universitätsklinikum RWTH Aachen, Pauwelsstr 30, 52057 Aachen, Germany

	Abstract

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We present a case of partial Cantrell’s syndrome with ventricular septal defect, left ventricular diverticulum, dextrorotation of the heart, an anterior diaphragmatic defect, and a midline supraumbilical abdominal wall defect with omphalocele. At the age of 20 months, the patient underwent a successful cardiac surgical procedure. To detect risk factors and to define therapeutic strategies, we analyzed the spectrum and the frequency of malformations described in 153 patients with Cantrell’s syndrome. Despite modern surgical standards, Cantrell’s syndrome represents a challenge to the surgeon because of the wide spectrum of anomalies, the severity of the abdominal and cardiac malformations, and the high mortality.

	Introduction

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In 1958, Cantrell and associates [1] described a rare syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. The characteristics of this syndrome are as follows: a midline supraumbilical abdominal wall defect; a defect of the lower part of the sternum; a deficiency of the anterior diaphragm; a defect in the diaphragmatic pericardium; and a congenital heart malformation. Previously, patients with this combination of anomalies were considered to have forms of ectopia cordis. Byron [2] first suggested a distinction between the other categories of ectopia cordis and those associated with abdominal wall defects.

Cantrell and co-workers [1] presented the cases of 5 patients and found another 16 patients previously reported by Major [3]. Cantrell and co-workers postulated these malformations to result from developmental failure of a segment of the mesoderm at a very early period in embryonic life. In 15 of the 21 patients, the congenital cardiac lesions were adequately described: a ventricular septal defect was present in all of them; an atrial septal defect, in 8; infundibular or valvular pulmonary stenosis, in 5; and a left ventricular diverticulum, in 3.

Since the study by Cantrell and colleagues [1], at least 132 new cases (including ours) have been reported. To detect risk factors and to define therapeutic strategies, we analyzed the spectrum, the frequency of malformations, and the clinical outcome of these 153 patients with this syndrome. Despite modern surgical standards, Cantrell’s syndrome represents a challenge to the surgeon because of the wide range of anomalies and the severity of the abdominal and cardiac malformations.

	Case report

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The patient was born May 17, 1994, after a normal pregnancy, the mother’s first pregnancy. There was no family history of congenital defects. After birth, an omphalocele was immediately apparent, but it did not require surgical treatment. The sternum was short but complete, and beneath the xiphoid process a pulsatile structure extending into the epigastrium was seen. There was a harsh systolic murmur, with its maximum at the left and right third intercostal spaces. The neonate had a flat and short nose, but the physical examination was otherwise normal.

The electrocardiogram showed right-axis deviation and right ventricular hypertrophy. The two-dimensional echocardiogram showed a large subaortic ventricular septal defect, an ostium secundum atrial septal defect, and a thin-walled left ventricular diverticulum extending into the abdominal cavity. A left superior vena cava without connection to the right system was also present. Operation on the cardiac defects was postponed, and the baby was treated with digitalis and diuretics. Follow-up after discharge from the hospital was uneventful.

Cardiac catheterization was performed when the baby was 3 months old and showed a rotation of the heart to the right. There was a subaortic ventricular septal defect with a 70% left-to-right shunt and flow-dependent pulmonary hypertension (pulmonary artery pressure of 55/21 mm Hg with a mean of 35 mm Hg; pulmonary blood flow to systemic blood flow ratio of 3.0; and pulmonary vascular resistance to systemic vascular resistance ratio of 0.16). The left ventricular diverticulum was contracting and filled synchronously with ventricular diastole. An ostium secundum atrial septal defect was also present (Fig 1).

View larger version (145K): [in this window] [in a new window]   Fig 1. Left ventriculogram showing left ventricular diverticulum (d) and subaortic ventricular septal defect (v) with dextrorotation of ventricles. (a = aorta; l = left ventricle; p = pulmonary artery; r = right ventricle.)

The patient underwent a cardiac surgical procedure at the age of 20 months at the University Hospital Aachen. After the short but completely developed sternum was opened, the heart showed a clockwise rotation with the left ventricle anterior to the right ventricle and deviation of the apex of the heart to the right. The small ascending aorta was in a right, posterior position to the enlarged pulmonary artery. From the apex of the left ventricle arose a diverticulum that extended downward across a ventral diaphragmatic defect and a diastasis recti into the epigastrium (Fig 2). It was covered with thin pericardial tissue.

View larger version (123K): [in this window] [in a new window]   Fig 2. Diverticulum (d) arising from left ventricular apex. (c = left anterior descending coronary artery; l = left ventricle; p = pulmonary artery; r = right ventricle.)

The left ventricular diverticulum was exposed. It was 3 cm in length and 1 cm in diameter and arose from the apex of the left ventricle. No major coronary branches were seen at the diverticulum (Fig 3). After resection at the apex of the left ventricle, the diverticulum showed a 4-mm lumen with normal myocardial and endocardial tissue. The left ventricle was closed with a double running suture of 4-0 polypropylene. After the reinstitution of cardiopulmonary bypass and rewarming, the heart promptly recovered, and cardiopulmonary bypass was discontinued. The ventral diaphragmatic defect, the pericardium, and the peritoneum were directly closed. The midline defect at the xiphoid process was closed by direct suture of the fascia of the rectus muscles. Postoperative recovery was uneventful, and the child left the hospital 14 days after the operation. Late follow-up has been uneventful.

View larger version (116K): [in this window] [in a new window]   Fig 3. Diverticulum (d) pulled back to mediastinum after dissection from adherence to ventral diaphragmatic defect and epigastrium. (c = left anterior descending coronary artery; l = left ventricle.)

	Review of literature

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In 1972, Toyama [5] reported the case of a patient with dextroversion, ventricular septal defect, pulmonary stenosis, common atrium, left superior vena cava, overriding aorta, and total anomalous venous return to the posterior junction of the left superior vena cava and atrium. This author made an excellent search of the literature, found a total of 61 cases of Cantrell’s syndrome, and classified them into three groups: full syndrome with at least four or all five defects present (n = 36); probable syndrome but incomplete description (mainly from old reports) (n = 17); and incomplete expression of the syndrome including 5 without heart defects (n = 8).

In our literature search, we found 20 additional cases from 1957 to 1970 and not included by Tomaya [5] in 1972. Fifteen of them were published in the Japanese-language literature, four in the French-language literature, and one in the English-language literature. Since 1972, 72 new cases including ours have been reported. Of these 92 patients, 48 show all the malformations of Cantrell’s complex (complete Cantrell) (Table 1), and 42 have incomplete expression of Cantrell’s syndrome (Table 2). Two cases with severe malformations were diagnosed by echocardiography during fetal life, and pregnancy was terminated. One, reported by Anderson and associates [10] in 1987, showed liver and heart exteriorized into a large midline defect with a dominant left ventricle, a rudimentary right ventricle, an aorta overriding the ventricular septal defect, and pulmonary and tricuspid atresia. The other, reported by Schüppler and co-workers [31] in 1994, had a combination of Cantrell’s pentalogy and amniotic band syndrome with ectopia cordis, pulmonary valve atresia, and hypoplastic pulmonary trunk.

	Analysis of literature

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Sex distribution
Information concerning the sex of the patients was found in 80 instances (53%). Forty-six patients (57.5%) were male and 34 (42.5%), female, for a ratio of 1.35:1.

Sternal malformations
Sternal malformations were described in 91 patients. Defective formation of the lower half of the sternum was present in 26 patients (28.6%), bifid sternum in 24 (26.4%), absent xiphoid process in 9 (9.9%), absent lower two thirds of the sternum in 8 (8.8%), defective formation or "cleft" at the xiphoid process in 8, and "short" sternum in 8. Complete sternal aplasia was present in 4 patients (4.4%), and other malformations including a defect of the upper third grossly abnormal rib cage, and sternal perforation were noted in 4 patients. No specific information about the clinical implications of this malformation was found, but 2 patients having operation after childhood and reported by Treistman and colleagues [22] and Gula and Yacoub [8] showed moderate scoliosis and severe kyphoscoliosis, which could be generated by a sternal malformation.

Abdominal wall defects
Abdominal wall defects were described in 114 patients. The most frequent were omphalocele (72 patients, 63.2%), diastasis recti (15 patients, 13.2%), epigastric hernia (12 patients, 10.5%), and umbilical hernia (8 patients, 7.0%). Combined defects such as diastasis recti and umbilical hernia, diastasis recti and absent umbilicus, and epigastric and umbilical hernia or rupture of the naval cord were present in 7 patients (6.1%).

Diaphragmatic defects
Diaphragmatic defects were noted in 87 patients. Ventral defect of the diaphragm was the most frequent malformation (79 patients, 90.8%). Absent left diaphragm was present in 3 patients (3.4%), and other malformations including complete aplasia of the diaphragm, left posterolateral defect, or absent ventral tendon were found in 5 patients (5.7%).

Heart defects
Heart defects were described in 127 patients and were complex malformations in 64 (51%). Ventricular septal defect was the most common heart malformation (92 patients, 72%). Atrial septal defect was present in 44 patients (34.6%), left ventricular diverticulum in 41 (32.3%), pulmonary stenosis or atresia in 40 (31.5%), dextrocardia in 19 (15.0%), left superior vena cava in 7 (5.5%), anomalous pulmonary venous return in 7, persistent ductus arteriosus in 7, right ventricular diverticulum in 4 (3.1%) and left ventricular aneurysm in 2 (1.6%). Tetralogy of Fallot was present in 22 patients (17.3%). Transposition of the great arteries was present in 8 patients (6.3%), tricuspid atresia in 7 (5.5%), truncus arteriosus in 5, atrioventricular septal defect in 4 (3.2%), and double-outlet right ventricle in 2 (1.2%).

Pericardial defects
Pericardial defects were described in only 64 patients (41.8%), and absent pericardium was the most common malformation (48 patients, 75%). A ventral pericardial defect was present in 14 patients (21.9%), a left-sided and ventral defect in 1 patient, and a pericardial diverticulum in 1.

Associated malformations
Associated malformations involving mainly thoracic and abdominal organs but also craniofacial and limb anomalies were present in 43 (28.1%) of the 153 patients (Table 3).

	Comment

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Patients with Cantrell’s syndrome are usually products of normal gestation. No familial tendency has been reported [6, 12, 13]. The incidence of this malformation is estimated to be 1 in 65,000 live births [13]. According to our review, male patients are affected more often than female patients (1.35:1).

As previously pointed out by Cantrell and associates [1] and others [6, 11, 13, 18], a developmental failure of appropriated segments of the mesoderm is considered the embryologic background of these malformations. The diaphragmatic defect originates from deficient development of the transverse septum, the pericardial defect from the portion of somatic mesoderm immediately adjacent to the area of the transverse septum, and the cardiac defects from inadequate development of the splanchnic mesoderm.

Traction exerted on the epimyocardial primordium and pericardial mesoderm by the caudally migrating transverse septum could rotate the heart or prevent normal levorotation and pull the primitive left ventricular cells into a diverticular appendage. A lesser degree of traction would result in only cardiac rotation and a greater degree, in a left ventricular diverticulum. The abdominal wall and the sternum are built by lateral to medial cell migration and fusion in the midline. Failure of fusion of the two halves and failure of complete migration of the myotomes causes sternal and abdominal defects. An omphalocele results in part from the wide diastasis recti and probably from an incomplete reduction of the embryonic umbilical hernia [6, 11, 13].

The time of origin of Cantrell’s pentalogy must be before or immediately after the differentiation of the primitive mesoderm into the splanchnic and somatic layers (between days 14 and 18 of embryonic life). The etiology is still unknown [11, 13].

The classic clinical picture is characterized by the presence of an omphalocele, a heart defect, and a foreshortened or cleft sternum, which in combination with the anterior abdominal defect gives the appearance of a high epigastrium subtended by a visible and palpable pulsatile mass. Pressure on this mass may cause dysrhythmias. A systolic murmur is detected in most instances, but this is dependent on the intracardiac lesion. Dyspnea and cyanosis are frequently present. Plain chest roentgenograms may demonstrate cardiac dextrorotation and associated thoracic anomalies. Echocardiography and cardiac catheterization will lead to the diagnosis of the intracardiac anomalies [6, 8, 13]. In some cases, however, the diagnosis is not made until during the operation, and closure of only the abdominal wall defects could compromise cardiac and respiratory function. Children with epigastric omphalocele or omphalocele associated with sternal malformations require careful cardiac evaluation before operation. On the other hand, patients with a ventricular diverticulum should be also evaluated for Cantrell’s syndrome.

The aim of surgical treatment is to repair the abdominal, thoracic, and cardiac malformations. Wieting in 1912 first reported surgical treatment by repositioning the diverticulum into the pericardial sac and closing the opening in the diaphragm [8]. Since that time, the prognosis for decades has been poor and the mortality, very high.

The crucial problem seems to be the avoidance of high abdominal and intrathoracic pressures postoperatively, as they cannot be tolerated in the presence of severe cardiac malformations [9, 11, 13]. Treatment of the abdominal malformations should be planned according to their extent and type. An omphalocele that has not ruptured or that is sufficiently epithelialized does not need an urgent operation but should be repaired early because it is easy to accomplish in a young patient [7, 13, 15]. The treatment of the cardiac malformations, as in our patient, should be carried out as required. Resection of the ventricular diverticulum is indicated early in life because of the risk of spontaneous or traumatic rupture and sudden death by tachyarrythmias (6% to 20%) [26]. In patients with severe abdominal malformations requiring urgent surgical intervention, the hemodynamic implications of increased intrathoracic pressure in the postoperative period must be considered. If cardiac malformations need to be treated at the same time, palliative versus corrective procedures should be considered. Sometimes, one-stage surgical repair of all malformations is possible.

The long-term prognosis depends on the severity of the cardiac and associated malformations. Cantrell’s syndrome remain a diagnostic and therapeutic challenge for both pediatricians and surgeons.

	References

Top Abstract Introduction Case report Review of literature Analysis of literature Comment References

 

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