Pediatrics and Neonatology (2015) 56, 132e133
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BRIEF COMMUNICATION
Rare Occurrence of Ectopia Cordis in a Congolese Neonate Nancy Ucima a,*, Deborah Debola Tuka b, Mathonnet Matondo Kimbongila c, Paul Kasuyi Lumbala b, ´re `se Biselele a, Bruno Muyala Tady a, The Emmanuel Dimbu Nkidiaka a, Michel Ntetani Aloni d a Division of Neonatology, Department of Paediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo b Division of Cardiology, Department of Paediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo c Division of Emergency, Department of Paediatrics, School of Medicine, University Hospital of Kinshasa, University of Kinshasa, Democratic Republic of Congo d Division of Paediatric Haemato-Oncology and Nephrology, Department of Paediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Received Mar 25, 2014; received in revised form May 2, 2014; accepted May 12, 2014
Available online 16 September 2014
1. Introduction Ectopia cordis (EC) is a rare congenital disorder characterized by complete or partial displacement of the heart outside the thoracic cavity. It is a congenital heart disease that was first described by Stensen in 1671. EC has been rarely reported in the African population.1e3 A case of a neonate seen in our institution (University Hospital of Kinshasa, Kinshasa, Democratic Republic of Congo) necessitated a literature review and a report.
2. Brief report A 14-hour-old female neonate was referred to our center for follow up of a defect in which the heart was completely exposed on the surface of the thorax. * Corresponding author. Division of Neonatology, Department of Paediatrics, University Hospital of Kinshasa, Kinshasa XI, P.O. Box 123, Democratic Republic of Congo. E-mail address: [email protected] (N. Ucima).
She was born through normal vaginal delivery. The case was the second in a family of two children. Her brother was still alive and in good health. There was no familial history of congenital heart disease in our case. Her mother was a 29-year-old woman, gravida 2 and para 2. Her previous medical history and pregnancy course were uneventful. The mother gave no history of febrile illness, or drug or herbal plant utilization. No medical history suggests a particular risk period or an adverse environment exposure before and during pregnancy. However, no antenatal ultrasound screening was performed during pregnancy. At presentation in our center, the physical examination showed a full-term neonate of 39 weeks’ gestation, calculated by Finnstro ¨m criteria. The sternum was entirely deficient with an externally-visible beating heart over the chest wall and without pericardium protection. The heart was extrathoracically oriented (Figure 1). The abdominal wall was intact. No other visible defects were found. The chest X-ray showed clear lung fields, normalappearing cardiac silhouette, edges of sternal bands, and a cleft sternum with an extrathoracic heart.
http://dx.doi.org/10.1016/j.pedneo.2014.05.005 1875-9572/Copyright ª 2014, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.
Ectopia cordis and neonate
Figure 1 Anterior view of the ectopia cordis. The sternum was entirely deficient with an externally visible heart over the chest wall and without pericardium protection.
Echocardiography showed a situs solitus, abdominal aorta, and inferior vena cava in normal position and a normal left aortic arch without additional intracardiac anomalies. Abdominal and renal ultrasounds were normal. This clinical description is suggestive of EC. The pentalogy of Cantrell was excluded. We decided to adopt a staged surgical approach to this defect, with the initial goal being replacement of the heart in the thoracic cavity. The infant died 2 hours after surgical intervention due to a cardiogenic shock. Postmortem examination was not performed due to family opposition.
3. Discussion EC is a rare congenital heart disease with an unknown incidence. Its estimated prevalence is 5.5e7.9 cases per million live births.4 In Africa, the incidence/prevalence of the disease is scarce.1,2 Cervical, cervicothoracic, thoracic, and thoracoabdominal types of EC have been described.5 Cervical and thoracic EC are relatively rare, while the abdominal and thoracoabdominal types are more common. Our case was compatible with the thoracoabdominal type, as described in the literature.2,5,6 The diagnosis has been broadly inclusive by using a combination of clinical and morphologic features. The clinical features of our patient were similar to those described in the literature and were suggestive of EC.1,2 The occurrence of thoracic EC was explained by thoracic cavity compression due to rupture of the chorion/yolk sac. This embryological defect might have started at 3 weeks gestation, and an arrest of cardiac descent at this stage of development is suggested. Failure of fusion of the paired cartilage bars of the embryonic sternum leads to a sternal
133 cleft. This may occur as an isolated malformation, or it may be associated with a larger category of ventral body wall defects that affect the thorax, abdomen, or both.7 Congenital heart defects associated with EC may represent deformations secondary to the mechanical distortion of the developing heart following early rupture of the chorion and/or yolk sac. With prenatal ultrasonography, the EC can usually be diagnosed in the 1st trimester of pregnancy. In the present case, no ultrasonography was performed during pregnancy. In this context, EC was diagnosed in the delivery room in a resource-poor setting.1,2 Postnatal echocardiography is essential for the diagnosis of associated cardiac anomalies. There was no familial history of congenital cardiopathies in our case. We considered the possibility of an unknown sporadic mutation because of the short time history of her disease and her young age. The genetic cause of EC is unknown. A possible relation between this congenital heart disease and chromosome aberration is described in the literature.7 Facilities for genetic and molecular studies are not readily available in the Democratic Republic of Congo. Despite advances in neonatal cardiac surgery, complete thoracic EC remains a surgical challenge universally, with few long-term survivors.4,6 In our case report, death occurred 2 hours after surgical intervention. Previous studies showed that complete EC is associated with the lethal form of the disease. In conclusion, this report serves to remind us of the difficult prenatal diagnosis and management of congenital heart diseases such as EC in the Democratic Republic of Congo.
Conflicts of interest The authors have no conflicts of interest relevant to this article.
References 1. Adebo OA, Arowolo FA, Osinowo O, Sodeinde O. Ectopia cordis in a Nigerian child. West Afr J Med 1993;12:233e5. 2. Lubala TK, Mutombo AM, Katamea T, Lubala N, Munkana AN, Kabuya MS, et al. Sporadic thoracic ectopia cordis: clinical description of a case. Pan Afr Med J 2012;13:62 [Article in French]. 3. Bekele D, Taye K. Ectopia cordisda case report. Ethiop Med J 2011;49:67e70. 4. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer Jr JE. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation 1996;94:II32e7. 5. van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008;167:29e35. 6. Morales JM, Patel SG, Duff JA, Villareal RL, Simpson JW. Ectopia cordis and other midline defects. Ann Thorac Surg 2000;70:111e4. 7. Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell’s pentalogy. Semin Pediatr Surg 2008;17:154e60.
Available online at www.sciencedirect.com
ScienceDirect journal homepage: http://www.pediatr-neonatol.com
BRIEF COMMUNICATION
Rare Occurrence of Ectopia Cordis in a Congolese Neonate Nancy Ucima a,*, Deborah Debola Tuka b, Mathonnet Matondo Kimbongila c, Paul Kasuyi Lumbala b, ´re `se Biselele a, Bruno Muyala Tady a, The Emmanuel Dimbu Nkidiaka a, Michel Ntetani Aloni d a Division of Neonatology, Department of Paediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo b Division of Cardiology, Department of Paediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo c Division of Emergency, Department of Paediatrics, School of Medicine, University Hospital of Kinshasa, University of Kinshasa, Democratic Republic of Congo d Division of Paediatric Haemato-Oncology and Nephrology, Department of Paediatrics, University Hospital of Kinshasa, School of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Received Mar 25, 2014; received in revised form May 2, 2014; accepted May 12, 2014
Available online 16 September 2014
1. Introduction Ectopia cordis (EC) is a rare congenital disorder characterized by complete or partial displacement of the heart outside the thoracic cavity. It is a congenital heart disease that was first described by Stensen in 1671. EC has been rarely reported in the African population.1e3 A case of a neonate seen in our institution (University Hospital of Kinshasa, Kinshasa, Democratic Republic of Congo) necessitated a literature review and a report.
2. Brief report A 14-hour-old female neonate was referred to our center for follow up of a defect in which the heart was completely exposed on the surface of the thorax. * Corresponding author. Division of Neonatology, Department of Paediatrics, University Hospital of Kinshasa, Kinshasa XI, P.O. Box 123, Democratic Republic of Congo. E-mail address: [email protected] (N. Ucima).
She was born through normal vaginal delivery. The case was the second in a family of two children. Her brother was still alive and in good health. There was no familial history of congenital heart disease in our case. Her mother was a 29-year-old woman, gravida 2 and para 2. Her previous medical history and pregnancy course were uneventful. The mother gave no history of febrile illness, or drug or herbal plant utilization. No medical history suggests a particular risk period or an adverse environment exposure before and during pregnancy. However, no antenatal ultrasound screening was performed during pregnancy. At presentation in our center, the physical examination showed a full-term neonate of 39 weeks’ gestation, calculated by Finnstro ¨m criteria. The sternum was entirely deficient with an externally-visible beating heart over the chest wall and without pericardium protection. The heart was extrathoracically oriented (Figure 1). The abdominal wall was intact. No other visible defects were found. The chest X-ray showed clear lung fields, normalappearing cardiac silhouette, edges of sternal bands, and a cleft sternum with an extrathoracic heart.
http://dx.doi.org/10.1016/j.pedneo.2014.05.005 1875-9572/Copyright ª 2014, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.
Ectopia cordis and neonate
Figure 1 Anterior view of the ectopia cordis. The sternum was entirely deficient with an externally visible heart over the chest wall and without pericardium protection.
Echocardiography showed a situs solitus, abdominal aorta, and inferior vena cava in normal position and a normal left aortic arch without additional intracardiac anomalies. Abdominal and renal ultrasounds were normal. This clinical description is suggestive of EC. The pentalogy of Cantrell was excluded. We decided to adopt a staged surgical approach to this defect, with the initial goal being replacement of the heart in the thoracic cavity. The infant died 2 hours after surgical intervention due to a cardiogenic shock. Postmortem examination was not performed due to family opposition.
3. Discussion EC is a rare congenital heart disease with an unknown incidence. Its estimated prevalence is 5.5e7.9 cases per million live births.4 In Africa, the incidence/prevalence of the disease is scarce.1,2 Cervical, cervicothoracic, thoracic, and thoracoabdominal types of EC have been described.5 Cervical and thoracic EC are relatively rare, while the abdominal and thoracoabdominal types are more common. Our case was compatible with the thoracoabdominal type, as described in the literature.2,5,6 The diagnosis has been broadly inclusive by using a combination of clinical and morphologic features. The clinical features of our patient were similar to those described in the literature and were suggestive of EC.1,2 The occurrence of thoracic EC was explained by thoracic cavity compression due to rupture of the chorion/yolk sac. This embryological defect might have started at 3 weeks gestation, and an arrest of cardiac descent at this stage of development is suggested. Failure of fusion of the paired cartilage bars of the embryonic sternum leads to a sternal
133 cleft. This may occur as an isolated malformation, or it may be associated with a larger category of ventral body wall defects that affect the thorax, abdomen, or both.7 Congenital heart defects associated with EC may represent deformations secondary to the mechanical distortion of the developing heart following early rupture of the chorion and/or yolk sac. With prenatal ultrasonography, the EC can usually be diagnosed in the 1st trimester of pregnancy. In the present case, no ultrasonography was performed during pregnancy. In this context, EC was diagnosed in the delivery room in a resource-poor setting.1,2 Postnatal echocardiography is essential for the diagnosis of associated cardiac anomalies. There was no familial history of congenital cardiopathies in our case. We considered the possibility of an unknown sporadic mutation because of the short time history of her disease and her young age. The genetic cause of EC is unknown. A possible relation between this congenital heart disease and chromosome aberration is described in the literature.7 Facilities for genetic and molecular studies are not readily available in the Democratic Republic of Congo. Despite advances in neonatal cardiac surgery, complete thoracic EC remains a surgical challenge universally, with few long-term survivors.4,6 In our case report, death occurred 2 hours after surgical intervention. Previous studies showed that complete EC is associated with the lethal form of the disease. In conclusion, this report serves to remind us of the difficult prenatal diagnosis and management of congenital heart diseases such as EC in the Democratic Republic of Congo.
Conflicts of interest The authors have no conflicts of interest relevant to this article.
References 1. Adebo OA, Arowolo FA, Osinowo O, Sodeinde O. Ectopia cordis in a Nigerian child. West Afr J Med 1993;12:233e5. 2. Lubala TK, Mutombo AM, Katamea T, Lubala N, Munkana AN, Kabuya MS, et al. Sporadic thoracic ectopia cordis: clinical description of a case. Pan Afr Med J 2012;13:62 [Article in French]. 3. Bekele D, Taye K. Ectopia cordisda case report. Ethiop Med J 2011;49:67e70. 4. Hornberger LK, Colan SD, Lock JE, Wessel DL, Mayer Jr JE. Outcome of patients with ectopia cordis and significant intracardiac defects. Circulation 1996;94:II32e7. 5. van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008;167:29e35. 6. Morales JM, Patel SG, Duff JA, Villareal RL, Simpson JW. Ectopia cordis and other midline defects. Ann Thorac Surg 2000;70:111e4. 7. Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell’s pentalogy. Semin Pediatr Surg 2008;17:154e60.
