Ectopia Cordis and Other Midline Defects

J. Mark Morales, MD, Sanjeet G. Patel, James A. Duff, MD, Roberto L. Villareal, MD, and James W. Simpson, MD

Background
Thoracic ectopia cordis and other midline defects are rare congenital anomalies that often occur with other intracardiac defects. Despite significant improvements in neonatal and infant cardiac surgeries, operations for thoracoabdominal ectopia cordis carry an extremely high mortality with only a few reported survivors of thoracic ectopia cordis.

Methods
The clinical charts of 4 patients with ectopia cordis over a 6-year period were reviewed. Three of the patients showed varying degrees of Cantrell’s Pentalogy; thoracic ectopia cordis was found in 1. We have reviewed our surgical strategies and reported the patients’ clinical outcomes.

Results
All 4 patients are alive at follow-up. Two infants with double-outlet right ventricle have been fully corrected, and extracorporeal membrane oxygenation was necessary in 1 infant for cardiac failure following the cardiac repair. A new born with thoracoabdominal ectopia cordis underwent primary repair of his diaphragmatic defect, and a silo was used to progressively reduce the omphalocele. He is currently awaiting elective repair of tetratology of Fallot. Lastly, the patient with thoracic ectopia cordis underwent successful soft tissue coverage, and she is being followed in the clinic with restrictive muscular ventricular septal defects and a left ventricular diverticulum.

Conclusions
Our experience along with other reports in the literature demonstrates that patients with thoracic and thoracoabdominal ectopia cordis can undergo and survive full cardiac, neurologic, and abdominal repair during infancy. Furthermore we advocate different approaches determined by the severity of the presentation and the presence of other complicating factors.

(Ann Thorac Surg 2000;70:111-4)
©2000 by The Society of Thoracic Surgeons

Patients and Methods

Patient 1
A full-term baby girl was diagnosed at birth with thoracic ectopia cordis. Further workup included and echocardiogram demonstrating multiple ventricular septal defects. She was taken to the operating theater to obtain soft tissue coverage using bilateral skin flaps. Although her hemodynamics deteriorated with tissue coverage;, she responded to a 24-hour period of low doses of inotropic agents resulting in a right atrial pressure of 14 to 18 mm Hg. After 72 hours, her hemodynamics stabilized and she was successfully weaned from the respirator and then discharged from the hospital.

She was readmitted 6 weeks later with flap necrosis and infection. The treatment consisted of excixion, intravenous antibiotics, and rectus muscle coverage. At age 3 months she presented with an apigastric pulsatile mass that was tender to touch, edematous, and hyperemic. Cardiac catherization at this time demonstrated a soft tissue mass overlying a left ventricular diverticulum. She was taken to the operating room were an infected sebaceous cyst was excised. The rectus abdominus was reapproximated in the midline and the skin primarily approximated.
Since then, she has been doing well. At her 2-year follow-up the ventricular septal defects were mostly closed. She is to be brought back in the near future for chest wall reconstruction and excision of the left ventricular diverticulum.

Patient 2
A 6-month-old boy with multiple congenital anomalies was transferred from Mexico with a cleft palate, large encephalocele, severe hydrocephalus, cardiac malformations, and large diaphragmatic and ventral hernias. Echocardiogram and cardiac catherization corroborated the diagnosis of dextrocardia, double-outlet right ventricular outflow tract obstruction, and a left ventricular diverticulum. Initially we underwent operation for repairs of his encephalocele. At age 5 months he underwent repair of his double-outlet right ventricle and resection of his left ventricular diverticulum. The heart was reduced into the right chest cavity and the diaphragmatic hernia was primarily repaired. After an uneventful cardiac recovery, he underwent repair of his large ventral hernia with primarily closure at the age of 7 months. Before his discharge he underwent placement of ventricular peritoneal shunt. He was done extremely well in follow-up visits for the past 13 months.

Patient 3
A 33-week-old premature baby girl was born with a large omphalocele, diaphragmatic hernia, dextracardia, double-outlet right ventricle, pulmonary stenosis, and a large ventricular septal defect. As a newborn she underwent repair of the large omphalocele. At 1 year of age she underwent double-outlet right ventricle repair. At this time the diaphragmatic hernia was repaired and the heart was reduced into the right chest. Because of the inadequate cardiac output, the patient was placed on extracorporeal membrane oxygenation for 6 days. She was successfully weaned from extracorporeal membrane oxygenation and is doing well at her 6-year follow-up.

Patient 4
This baby boy, the product of 35-weeks’ gestation, was born with an omphalocele, Tetralogy of Fallot, and a large right-sided diaphragmatic hernia. On the second day of life, the baby was taken to the operating theater where his diaphragmatic hernia was repaired with a Gore-Tex (W.L. Gore & Assoc, Flagstaff, AZ) graft. During the operation the absence of a pericardium was noted. An attempt was then made to reduce the omphalocele; however, because of the liver reduction there was little space in the abdominal cavity. A silo membrane was placed and the intestines reduced in the following days. The baby was successfully weaned from the respirator. Echocardiogram demonstrated tetralogy of Fallot with very mild right ventricular outflow tract obstruction. The decision was made to discharge the patient and perform elective corrective operation at the age of 6 months to 1 year.

Comment
In 1958, Cantrell and colleagues |5| described a group of patients who had midline supraumbilical anterior diaphragmatic and pericardial defects with free communication between the peritoneal and pericardial spaces in association with congenital cardiac defects. The pathogenesis has remained an enigma since its first description 5,000 years ago |7|. It is hypothesized that compression of the thoracic cavity, resulting from rupture of the chorion/yolk sac at around 21 days of gestation prevents proper midline fusion of the developing chest wall |8|. The delayed retraction of the bowel in the embryo results in a defective formation of the central fibrous tendon of the diaphragm.

Ectopia cordis is characterized by complete or partial displacement of the heart out of the thoracic cavity. Although the cervical type is not compatible with life, the thoracoabdominal is the most common form and is associated with the pentad of Cantrell. The overall survival of the thoracoabdominal ranges in the order of 50% or better, depending on other associated with dismal prognosis [6,9,11,12]. Moreover, most of the long-term survivors of the thoracic type have no associated cardiac defects. Common cardiac congenital anomalies associated with ectopia cordis are: 100% with ventricular septal defect, 53% with atrial septal defect, 20% with Tetralogy of Fallot, and 20% with left ventricular diverticulum |10|. Two of our patients exhibited double-outlet right ventricle, 1 showed Tetralogy of Fallot, and 3 had pentalogy of Cantrell. Lastly, 2 of our patients had left ventricular diverticuli, and the patient with the thoracic ectopia cordis had small ventricular diverticulum.

Any significant extracardiac defects, pulmonary Hypoplasia, large abdominal defects, cerebral anomalies, and herniation of the bowel and liver into the thoracic cavity would likely worsen the overall prognosis of these particular patients. Despite a reported high mortality rate, successful corrective or palliative cardiovascular operation has been performed during the neonatal period, infancy, and childhood. The devised surgical strategy depends on the size of the defect, the associated heart anomalies, and the type of ectopia cordis. In milder cases of thoracoabdominal ectopia cordis, in which the omphalocele is small or nonexistent or the heart is protruding through an anterior diaphragmatic defect and is covered by skin and soft tissues, the corrective heart operation, the ventral hernia, and the diaphragmatic defect can be operated on at the same time. First, the intracardiac portion of the defect is repaired and the apex of the heart repositioned defect is repaired and the apex of the heart repositioned in the left or the right chest. Next, the pericardioperitoneal communication is obliterated primarily or with a 0.4-mm Gore-Tex patch. Finally, the cleft sternum is repaired by approximating the lower costochondral cartilage in the midline or left alone if the cleft is small (lack of a xyphoid process).

Mild cases of Cantrell’s pentalogy can be repaired in a single stage. Our second case (double-outlet right ventricle, dextrocardia, entral and diaphragmatic hernias, and left ventricular diverticulum) was repaired at 6 months of age as a single stage after the enphalocele was repaired by the neurosurgeon. Alternatively, the presence of complicating factors such as pulmonary Hypoplasia, a large omphalocele, herniation of the liver and bowel into the chest, and hydrocephalus procedure severe forms of Cantrell’s pentalogy. In these cases we, along with others, advocate a two-stage repair (patients 2, 3, and 4). The goals of the first operation are to provide soft tissue coverage to the abdomen and heart by making space in the posterior mediastinum. The pericardioperitoneal communication is closed either primarily or by graft. In some occasions it is not possible to reduce the abdominal contents and the heart because hemodynamic instability. In these cases the heart can be reduced posteriorly, the diaphragmatic defect approximated after the intestines and liver are removed from the chest, and a silo placed in the abdominal wall for progressive reduction. Hemodynamics tolerate slow reduction the best. If the cardiac physiology does not allow for expectant therapy (Tetralogy with cyanosis or ventricular septal defect with failure), a palliative procedure such as a Blalock-Taussig shunt or a pulmonary artery band can be performed to allow the chest cavity to grow and make space for the heart. This method decreases the likelihood of hemodynamic instability after cardiac repair. During the second stage the corrective heart operation is performed between 6 months and 2 years of age, depending on preferences of the particular institution and clinical development of the patient. The heart is returned to the left or right pleural spaces depending on where the apex points, and wheter mesocardia, levocardia, or dextrocardia is exhibited. The chest wall is reconstructed if necessary by means of a neosternum formed by the ribsand perichondrium |13|.

Thoracic ectopia cordis presents a formidable surgical challenge. In recent reviews of the literature the reported survival after birth averages 36 hours; intracardial defects where associated in 80.2% of the cases, and all unoperated paients died |6|. Before our report there were 4 reported long-term survivors, 3 with no associated intracardiac anomalies and 1 with Tetralogy of Fallot and pulmonary atresia who underwent early palliation followed by closure of the ventricular septal defect and right ventricle-pulmonary artery conduit. Several patients in whom primary surgical intervention was performed during the neonatal period died from unrelated causes |6, 11, 12|. Hornberger and colleagues |9| reported 1 patient who had palliative and corrective operation. The strategy for repair is divided in two stages: (1) urgent soft tissue coverage and hemodynamic palliation if necessary; and (2) intracardiac repair with concomitant chest wall reconstruction and reduction of the heart into the thoracic cavity. In most reported successful cases, coverage of an anterior chest wall cavity with skin falps or the use of prosthetic patches was well tolerated. This is accomplished by careful dissection of the myocardium and the skin edges, followed by elevation of full thickness skin flaps. The space can be enlarge further by dissection of the posterior mediastinum. The edges are approximated with close monitoring of hemodynamics, and if there is any decompensation a Gore-Tex extension is attach and reduce slowly over the ensuing weeks. Reduction of the heart into the left chest in addition to the left diaphragm-plasty is usually not tolerated during the neonatal period because of excessive compression, decrease hart filling, and low cardiac output. In case of hemodynamically significant defects, palliation can be delayed for a few weeks until the hemodynamic effects of the chest coverage have stabilized. During this time Prostin (Prostaglandin E1, Ben Venue Laboratory Inc, Bedford, OH) can be used for decreased pulmonary flow. If the situation entails tetralogy of Fallot or double-outlet right ventricle with critical pulmonary stenosis or pulmonary atresia, a Blalock-Taussig shunt or percutaneous pulmonic valvuloplasty can be used. Pulmonary artery banding can be used to palliate excessive pulmonary flow and failure to thrive; this can usually be deferred until 2 to 3 months of age when the physiologically elevated pulmonary vascular resistance of the newborn falls to normal values.

When simple defects (atrial septal defect, ventricular septal defect, patent ductus arteriosus, left ventricular diverticulum, etc.) are associated with thoracic ectopia cordis, they can be managed medically after tissue coverage. Delayed repair is advisable to allow for some growth of the thoracic cavity. This is usually accomplished by the age of 2 years, at which time the intracardiac defect is corrected followed by placement of the heart into the thoracic cavity, closure with skin and muscle flap, and rotation of the lower costochondral cartilage to add rigidity to the repair. In case of hemodynamically significant defects, multiple ventricular septal defects, large single ventricular septal defect with failure to thrive, or tetralogy with severe pulmonary stenosis, palliative procedures should be legitimized after initial soft tissue coverage and then followed by complete repair at the age of 1.5 to 2 years. At this time the thoracic space allows for reduction of the heart.
Finally, operation on patients with thoracic ectopia cordis and life-threatening complex intracardiac anomalies in which the best chance of survival includes the premise of a full repair, should still be attempted despite heretofore poor outcomes. Our first patient had thoracic ectopia cordis in association with left ventricular diverticulum, small muscular ventricular septal defects, and mild failure that could be controlled medically. Therefore, no palliative or intracardiac intervention after soft tissue coverage was needed. In selected patients, cardiac, neurologic, and abdominal repair can be achieved in infancy for ectopia cordis and other midline defects.

References

Khoury MJ, Cordero JF, Rasmussen S. Ectopia cordis, midline defects, and chromosomal abnormalities: an epidemio-logical perspective. Am J Med Genet 1988;30:811-7.
Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet 1992;42:90-5.
Shamburger RC, Welch Kl. Sternal defects. Pediatr Surg 1990;5:156-64.
Van Praagh R, Weinberg PM, Smith SD Foran RB, Van Praagh S. Malpositions of the heart. In: Adams FA, Emmanouilides GC, Reimenschneider TA, eds. Heart disease in infants, children and adolescents, 4th ed. Baltimore, MD: Williams & Wilkins, 1989;575-6.
Cantrell JR, Haller JA, Ravitch MN. A syndrome of congenital defect involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 1958;107:602-14.
Morrello M, Quaini E, Nenov G, Pome G. Extrathoracic ectopia cordis case report. J Cardiovasc Surg 1994;35:511-5.
Taussig HB. World survey of the common cardiac malformations: developmental errors of generic variant? Am J Cardiol 1985;50:544-59.
Kaplan, LC, Matsuoka R, Gilbert EF, et al. Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet 1985;21:187-202.
Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer JF. Outcome of patients with ectopia cordis and significant intracardiac defect. Circulation 1996:94(suppl):1132-7.
Abdallah HI, Marks LA, Balsara RK, Davis DA, Russo PA. Staged repair of pentalogy of Cantrell with tetralogy of Fallot. Ann Thorac Surg 1993;56:979-80.
Watterson KG, Wilkinson JK, Kliman L, Mee RBB. Complete thoracic ectopia cordis with double-outlet right ventricle: neonatal repair. Ann Thorac Surg 1992;53:146-7.
Amato JJ, Zelen J, Talwalkar NG. Single-stage repair of thoracic ectopia cordis. Ann Thorac Surg 1995;59:518-20.
Jona JZ. The surgical approach for reconstruction of the sternal and epigastric defects in children with Cantrell’s deformity. J Pediatr Surg 1991;26:702-6

Contact Information:

John Mark Morales MD, FACS, FAAP
Chief of Cardiothoracic, Director of Perfusion Services
Certified by the American Board of Surgery, American Board of Thoracic Surgery

Mark Bielefeld, MD
Driscoll Children's Hospital Chief of Staff
Certified by the American Board of Surgery, American Board of Thoracic Surgery

Thoracic surgeons are available for questions and consultations: (361) 854-0201. For appointments, assistance, and physician references in Corpus Christi call: (361) 854-0201 or 800-DCH-LOVE
Fax : 361-855-7572
E-MAIL : jmarkmorales@aol.com

For further information on any surgical procedures you can contact Carol Kaplan, RN, Surgical Nurse Liaison at (361) 694-5150. Consultation and surgery for inpatients is provided in concert with neonatology and pediatric cardiology departments. Complete evaluation and management for infants, children, adolescents and adults with congenital or acquired cardiac, vascular or thoracic anomalies.

Cardiothoracic Associates
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Corpus Christi, Texas 78411
Phone: (361) 694-5150
Fax: (361) 855-7572
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Ectopia Cordis and Other Midline Defects

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