Cantrell syndrome is an extremely rare disease with an incidence of around six per million live births, which is considered to be related to the deletion on the locus at Xq25–26.Reference van Hoorn, Moonen and Huysentruyt 1 This syndrome mainly includes the defects of heart, pericardium, diaphragm, abdominal wall, and sternum.Reference Cantrell, Haller and Ravitch 2 The operative mortality is ~50% after surgical correction of this syndrome. Owing to the complex malformations, Cantrell syndrome still represents a challenge to the surgeon. We report here a case of Cantrell Syndrome in a 3-month-old infant who underwent one-stage surgical treatment without undergoing repair of the left ventricular diverticulum.
Case presentation
The patient was a 3-month-old girl who had Cantrell Syndrome with cardiovascular malformations such as ventricular septal defect, atrial septal defect, and left ventricular diverticulum. She started having signs of congestive heart failure since the second month. On physical examination, there was a 3/6 grade systolic murmur in the 4th intercostal of the left parasternal area with a loud P2. In addition, physical examination revealed the defects of the lower sternum and omphalocele. Obvious cyanosis of lips was observed when she was crying, and her oxygen saturation was around 92%. Transthoracic echocardiography revealed atrial septal defect (0.5 cm, left-to-right shunt), ventricular septal defect (1.0 cm, bi-directional shunt), and left ventricular diverticulum (2×3×2 cm). Left ventricular ejection fraction was 62%, and pulmonary arterial systolic pressure was estimated to be 56 mmHg. CT scan revealed the defect of lower sternum as well as malformations of the anterior diaphragm and abdominal wall.
The patient underwent one-stage surgical repair for Cantrell syndrome. During the surgery, we found that the sternum was short and thin, and there was no xiphoid process. Partial defect was found in the pericardium, and there was severe adhesion between the heart surface and the pericardium. The incision was extended through a diaphragmatic hernia into the abdomen. Subsequently, the left ventricular diverticulum (~2×3×2 cm) was fully exposed (Fig 1). After the cardiopulmonary bypass was established, the ventricular septal defect was repaired using a Dacron patch via the right atriotomy, and the atrial septal defect was closed by continuous suturing with Prolene suture. After the right atrium was closed, the heart was re-positioned deeper into the thoracic cavity. Subsequently, the defect of the pericardium was repaired with part of the hernial sac. The diaphragmatic defect was repaired using a polytetrafluoroethylene patch, and the abdominal defect was repaired using a soft tissue and skin flap. Surgical repair of the left ventricular diverticulum is usually not required in infancy; therefore, we did not repair the diverticulum simultaneously during the surgery. Finally, the thoracic and abdominal incisions were closed, and umbilical plasty was performed at the same time. She was weaned from the ventilator two days after the surgery and was discharged from the hospital 12 days post-operatively in good clinical condition. There was no post-operative complication. At a follow-up of 1 year, the baby recovered well and there was no sign of congestive heart failure. Transthoracic echocardiography showed no residual atrial or ventricular septal defect and no paradoxical contraction of the left ventricular diverticulum.
Surgical image with heart exposed and diverticulum (arrow) isolated.
Discussion
The Cantrell syndrome was first reported by Cantrell et al.Reference Cantrell, Haller and Ravitch 2 They concluded that the cause for the syndrome may be attributed to the embryological developmental failure of the mesoderm during the early embryonic life between 14 and 19 days; however, thus far, there is no study that reveals the detailed mechanisms of these defects. The incidence is around six per million and more male patients are affected than female patients (1.35:1). Among the cardiac abnormalities, ventricular septal defect is most commonly reported (72%), followed by atrial septal defect 34.6%, left ventricular diverticulum 32.3%, pulmonary stenosis or pulmonary atresia 31.5%, tetralogy of Fallot 17.3%, dextrocardia 15.0%, and transposition of the great arteries 6.3%.Reference Vazquez-Jimenez, Muehler and Daebritz 3
The prognosis of Cantrell syndrome is generally poor and heavily dependent on the severity of cardiac anomalies. Surgical repair is performed mostly in the neonatal period or in infancy because of the poor prognosis. The main causes for high operative mortality (~50%) include tachyarrhythmias, bradycardia, low blood pressure, rupture of the diverticulum, and heart failure.Reference Morales, Patel and Duff 4 Whether a staged or one-stage operation is the preferable treatment strategy should depend on the severity of cardiac malformations, cardiopulmonary function, and the patient’s ability to tolerate surgery. Patients with complex intra-cardiac and extra-cardiac anomalies require a staged operative procedure. In the present case, due to the relatively simple cardiac anomalies and the patient’s stable health condition, we decided to perform a one-stage surgical repair.
Cantrell syndrome has varied degree of severity, ranging from incomplete to severe expression in other organs. ToyamaReference Toyama 5 proposed the following classification: complete syndrome, with all five defects present; probable syndrome, with four defects present; and incomplete syndrome, with different combinations of defects present. According to this classification, our case was a complete expression of the pentalogy. The major concern with our patient was how to deal with the ectopia cordis. During the surgery, we resected the left side of the pericardium and avoided injuring the phrenic nerve, and subsequently incised the left pleura to reposition the heart into the deeper thorax. After repairing the remaining pericardium with part of the hernial sac, we dragged and fixed it to the position of the cardiophrenic angle, which could effectively avoid compromised haemodynamic stability and high intra-thoracic pressures. Another key point is to distinguish the congential left ventricular diverticulum from an aneurysm. In our case, the left ventricular diverticulum had a thick wall and contracted normally, whereas an aneurysm is a fibrous saccular lesion that contracts paradoxically. Resection of the ventricular diverticulum was performed in some cases because of the risk of rupture and sudden death caused by tachyarrhythmia.Reference El Kouache, Labib and El Madi 6 , Reference Singh, Bera and Sachdev 7 It is essential to resect the diverticulum at the apposite position to ensure enough volume and function of the left ventricle. On the other hand, a follow-up research showed that the remnants of the diverticulum proved to be of normal contractility, suggesting that complete resection was not always necessary.Reference Korver, Haas and Freund 8 In our case, the diverticulum took up a large proportion of the left ventricle, and the anterior descending branch of the left coronary artery extended downwards to the apex of the diverticulum. Considering its size and the high risks of damaging conduction tracts and the coronary artery, we decided not to ligate or resect the diverticulum. Nevertheless, follow-up of the ventricular diverticulum is needed to determine further treatment. In this case, transoesophageal echocardiography showed that no paradoxical contraction occurred in the left ventricular diverticulum at 1-year follow-up.
Conclusion
A successful surgical treatment for Cantrell Syndrome should include satisfactory correction of the cardiac malformation, adequate space for heart re-positioning, and complete repair of the thoracoabdominal wall. In the post-operative course, early weaning from the ventilator is recommended (Fig 2).
Computed tomography features. Computed tomography sagittal reconstruction view shows absence of xyphoid and abdominal contents at the midline of upper abdomen (arrow); skin and muscular layer of the focus abdominal wall are absent.
Acknowledgements
I thank my colleagues for their continued support and encouragement. I also offer my sincere appreciation to Dr Ding for critical review of this manuscript.
Financial Support
This research received no specific grant from any funding agency, commercial, or not-for-profit sectors.
Conflicts of Interest
None.
Ethical Standards
The institutional research committee approved the case report and the family consented and approved the publication of the surgical photo.
