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doi:10.1111/cga.12096

Congenital Anomalies 2015; 55, 121–123

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CASE REPORT

Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle Gesa Harring1, Jochen Weil1, Christian Thiel1, Rainer Schmelzle2, and Goetz C. Mueller1 Department of Pediatric Cardiology, University Heart Center Hamburg and 2Department of Oral and Maxillofacial, Plastic Surgery, University Hospital Hamburg- Eppendorf, Hamburg, Germany

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ABSTRACT

Pentalogy of Cantrell (PoC) is a rare congenital midline defect. We present a case and its treatment of PoC with complete ectopia cordis and congenital heart disease. Postnatally the congenital heart defect was surgically corrected and the ectopic heart was covered by musculous mobilized flap. Due to cephalic orientation of the heart and limited intrathoracic space, replacement of the heart into the thoracic cavity was initially not performed. After 11 years of follow up our patient now is without relevant limitations solely wearing a thoracic shelter. This case elucidates the complexity of further management. The potential risk of disastrous hemodynamic compromise by intrathoracic shift is to compare with the limited safety of the ectopic heart. Key Words: congenital heart disease, double outlet right ventricle, ectopia cordis, Pentalogy of Cantrell

INTRODUCTION Pentalogy of Cantrell (PoC) is a rare congenital disorder first described in 1958 by Cantrell. The full spectrum of this syndrome consists of midline supraumbilical abdominal wall defect, defect of the lower sternum, deficiency of the anterior diaphragm, defect in diaphragmatic pericardium and congenital heart disease. (Cantrell et al. 1958) The incidence of ectopia cordis (Ec) is sporadic with only 5.5 to 7.9 per 1 million live births (de Rubens Figueroa et al. 2011). PoC has its origin in embryologic development, resulting from defective formation and differentiation of the ventral mesoderm at about 14 to 18 days of embryonic life. (Cantrell et al. 1958) The etiology is probably sporadic and multicausal transmission, the exact pathogenesis remains unknown. Outcome of PoC with ectopia cordis and congenital heart defect is disastrous. We present a case of PoC and complete thoracic ectopia cordis with cephalic orientated cardiac apex, double outlet right ventricle and omphalocele. After coverage of ectopia cordis by musculocutaneous pedicled flap reconstruction, correction of the omphalocele and corrective surgery of the double outlet right ventricle we see ourselves actually confronted with an 11-year-old boy in moderate general condition. Correspondence: Gesa Harring, MD, Universitäres Herzzentrum Hamburg, Klinik für Kinderkardiologie, Martinistrasse 52, D- 20246 Hamburg, Germany. Email: [email protected] Received August 11, 2014; revised and accepted November 1, 2014. Conflict of interest: None.

Finally the query persists if further invasive management would be beneficial for the patient considering the complexity of surgical procedure and the subjective wellbeing in comparison to the safety risk of the extra thoracic heart.

CLINICAL REPORT Diagnosis of ectopia cordis was made prenatally. The male infant was born at the gestational age of 36 + 5 via cesarean section. As prenatally described total thoracic ectopia cordis with cephalic orientation of the cardiac apex and double outlet right ventricle (DORV) was found. (Fig. 1) The cardiac surface was covered by serous pericardium only. Initial ventilatory support was needed. During the first days of life provisional skin coverage of the heart was performed, the associated omphalocele was surgically corrected. Within the following weeks the heart was covered by the rudiment of the left-sided musculus pectoralis as myocutaneous pedicled flap from cranial. Furthermore, staged excessive mobilization and movement of denerved latissimus dorsi myocutaneous pedicled flaps was performed. Corrective surgery of the DORV was successfully performed at the age of 5 months by ventricular septal defect patch closure and transannular patch plastic of the right ventricular outflow tract obstruction. At this stage replacement of the extra thoracic heart into the thoracic cavity was not performed due to cephalic orientation of the apex and minimal thoracic capacity. Further follow up was without complications. The continuing mental and motor development was slightly delayed but adequately supported. After 11 years of follow up the patient is still in good clinical condition. (Fig. 1) Life quality measured by the KINDL-R is slightly reduced compared to healthy standard population. Especially psychological dimensions concerning family and friends are negatively affected. Mental development is reduced and school education is limited to schools for mentally handicapped children. Mobility capacity is without relevant limitation; NYHA class I. Muscle and skeletal system is grown without side differences. Sports can be moderately performed under consideration of the remaining ectopia cordis without bone coverage and corrected congenital heart disease. (Fig. 1) Cardiac MRI and echocardiographic examinations showed slightly reduced function of the moderately dilated right ventricle. The right ventricular outflow tract appeared without stenosis. Free pulmonary valve regurgitation due to previously performed transannular patch plastic was found. Truncus pulmonalis and pulmonary arteries appeared enlarged without affected pulmonary artery perfusion. No rhythm disturbances were electrocardiographically detected. © 2014 Japanese Teratology Society

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DISCUSSION Pentalogy of Cantrell including complete thoracic ectopia cordis is a rare congenital disorder of unknown pathogenesis with sporadic incidence (de Rubens Figueroa et al. 2011). Especially, complete thoracic ectopia cordis, in addition to complex heart disease, are known to have poor prognosis. (Sadlecki et al. 2011; Sakasai et al. 2012) Surgical internalization of the heart into the thoracic cavity is associated with high risk of cardiovascular compromise and ischemia. (Sakasai et al. 2012) We present a case of Pentalogy of Cantrell with total ectopia cordis surgically covered with musculocutaneous flaps and corrected double outlet right ventricle of Fallot type after 11 years of follow up. Today we see ourselves confronted with the 11-year-old boy in very good general condition without severe subjective compromise. The exteriorization of the heart is still covered by the initial M. latissimus dorsi and pectoralis flap, autotransplanted skin and protected by a prosthetic shelter (Fig. 1). Concerning the cosmetic but even more the safety aspect of an extra thoracic lying heart, the question arises if internalization of the heart would be beneficial for our patient. Due to the knowledge of the difficulty of the internalization and excellent survival until now in terms of adequate life quality, the further surgical intervention with the potential risk of life threatening cardiovascular compression in comparison to improvement of stabilization remains a difficult decision. As far as we know there is no comparable case with the full spectrum of Pentalogy of Cantrell and total thoracic ectopia cordis who shows a follow up over 11 years in such good clinical

Fig. 1 (a,b) Magnetic resonance imaging (MRI) of the extrathoracic heart at 11 years of age. (c) Thoracic shelter at age 5 months. (d) Patient at age 11 years. Permission has been obtained from the patient’s parents for presentation.

© 2014 Japanese Teratology Society

condition. Surgical options are limited due to critical outcome and surgical challenge as far as the difficulty of correction. By internalization of the extra thoracic heart or chest wall reconstruction two different strategies of cardiac coverage by chest structures have been reported. Even though the reasons of lethal outcome after replacement is not always cardiovascular declared, most case reports show high mortality after the attempt of internalization due to compression of cardiac structures and vessel kinking leading to lethal complications after internalization of an extra thoracic heart. Chest wall reconstruction is the alternative possibility. Lampert et al. reported a case of chest wall reconstruction using muscularosseus composite flap involving segments of the 9th and the 10th ribs and overlying pedicled latissimus dorsi muscle which gives stabilization, enables further growth and bypasses the total internalization with its potential risks of hemodynamical instability (Lampert et al. 2010). Other authors present cases with reconstruction using alloplastic material, which could be an option, but comes along with the disadvantage of infections, potential growth problems and the query of persistence. Mohan et al. presents a further case of ectopia cordis with second stage late reconstruction of the chest wall using autologous bone and cartilaginous grafts with good outcome and no cardiovascular compression (Mohan et al. 2010). This seems to be a good compromise in order to supply the patient with more safety and stability. Furthermore, the risk of infection due to surgery is minimal and it offers the option of growth and persistence. Nevertheless, evidence-based recommendations for coverage of the extra thoracic heart by internalization or chest wall reconstruc-

Managing Pentalogy of Cantrell

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tion are not given and cannot be enunciated. In this rare case of PoC with complete ectopia cordis and DORV of Fallot type the necessity of further repetitive pulmonary valve replacements during the patient’s life span are expectable. Considering the background of the patient’s good clinical condition, only slightly reduced life quality and expected further cardiac surgeries, we decided against surgical internalization or chest wall reconstruction. Sometimes less activism has more substantiated success.

Rainer Schmelzle, MD, PhD: Professor Schmelzle reviewed and revised the manuscript, and approved the final manuscript as submitted. Goetz C Mueller, MD: Dr Mueller conceptualized the case report, coordinated and supervised data collection and critically reviewed the manuscript and approved the final manuscript as submitted.

ACKNOWLEDGMENTS

Cantrell JR, Haller JA, Ravitch MM. 1958. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 107:602–614. de Rubens Figueroa J, Sosa Cruz EF, Diaz Garcia L et al. 2011. Cardiac malformations in patients with pentalogy of Cantrell and ectopia cordis. Rev Esp Cardiol 64:615–618. Lampert JA, Harmaty M, Thompson EC et al. 2010. Chest wall reconstruction in thoracoabdominal ectopia cordis: using the pedicled osteomuscular latissimus dorsi composite flap. Ann Plast Surg 65:485–489. Mohan R, Peralta M, Perez R et al. 2010. Chest wall reconstruction in a pediatric patient with ectopia cordis. Ann Plast Surg 65:211–213. Sadlecki P, Krekora M, Krasomski G et al. 2011. Prenatally evolving ectopia cordis with successful surgical treatment. Fetal Diagn Ther 30:70–72. Sakasai Y, Thang BQ, Kanemoto S et al. 2012. Staged repair of pentalogy of Cantrell with ectopia cordis and ventricular septal defect. J Card Surg 27:390–392.

REFERENCES

Funding statement: This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

CONTRIBUTOR’S STATEMENT Gesa Harring, MD: Dr Harring conceptualized and carried out the initial analyses, drafted the initial manuscript, reviewed and revised and approved the final manuscript as submitted. Jochen Weil MD, PhD: Professor Weil reviewed and revised the manuscript, and approved the final manuscript as submitted. Christian Thiel, MD: Dr Thiel reviewed and revised the manuscript, and approved the final manuscript as submitted.

© 2014 Japanese Teratology Society

Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle.

Pentalogy of Cantrell (PoC) is a rare congenital midline defect. We present a case and its treatment of PoC with complete ectopia cordis and congenita...
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