Introduction
Ectopia cordis is an extremely rare congenital abnormality, occurring in 5.5 to 7.9 per 1 million live births.1-8 The defect is characterized by partial or complete displacement of the heart out of the thoracic cavity. This anomaly is classified into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracoabdominal.1,5,9 The two most common forms of ectopia cordis are the thoracic and thoracoabdominal type.1,4,9 The latter is frequently associated with Cantrell’s pentalogy, first described by Cantrell et al. in 1958, which include defect of the lower sternum, deficiency of the diaphragm, defect of diaphragmatic pericardium, defect of the anterior abdominal wall, and intracardiac defects.1,3,5,7-17
Previous reports suggest a poor prognosis for patients with ectopia cordis, particularly in the presence of thoracic ectopia cordis and significant heart defects.1,2,7,9,15,18,19 More recently, with the advances in the medical field and surgical techniques, more patients born with this medical condition have been successfully treated and have survived. In general, the goal of the initial management is directed at providing coverage of the bare heart with skin or synthetic material without causing hemodynamic embarrassment. Later, subsequent operations to repair the intracardiac defects and to reconstruct the chest wall can be done.1,5,9,19 In this report, I present a case of ectopia cordis and an overview of its management in the medical literature.
Case Report
A 3500-g male infant was born via a lower segment caesarian section to a young 26 years primigravida mother at 40 weeks of gestation following an uncomplicated pregnancy. There was no family history of congenital defects. The baby was breathing spontaneously. Physical examination showed a purple mass just above the umbilical insertion pulsating with the heart beat. Further physical examination was unremarkable.
Electrocardiography showed sinus rhythm with normal axis and right ventricular hypertrophy. Chest X-ray showed dextrocardia. Echocardiography showed a dextroposition of the heart. There was ASD and VSD with a left-to right shunt and pulmonary valve stenosis. CT thorax showed dextrocardia and ectopia cordis with the abdominalis hernia.
Patient in stable condition and planned to have repaired surgery for the defects.
Figure 1. Baby with a purple mass just above the umbilical insertion pulsating with the heart beat.
Figure 2. Chest X-ray in anteroposterior position showed dextrocardia.
Figure 3. Chest X-ray in lateral position showed heart protrudes diaphragma into abdominal
Figure 4. Echo showed ASD
Figure 5. Echo showed VSD
Figure 6. Echo showed pulmonary valve stenosis
Figure 7. CT thorax from lateral position
Figure 8. CT thorax showed the heart protrude trough abdominal cavity with part of intestine
Discussion
Ectopia cordis is a rare and striking congenital heart defect, which was first observed 5000 years ago.1,6, The defect is described as malposition of the heart, partially or completely outside the thorax. 1,3,5,7-17 It most often is associated in mesodermal maturation of the heart, sternum, rectus abdominis, diapraghm, and endocardium.8,9,14,17,21 Embryologically, arising as a result of defective formation, differentiation, and migration of the mesoderm at about 14-18 days of embryonic life.7,10,15,20 According to the position of the misplaced heart, ectopia cordis can be classified into five types: 1) cervical, in which the heart is located in the neck with sternum that is usually intact; 2) thoraciccervical, in which the heart is partially in the cervical region but the upper portion of the sternum is split; 3) thoracic, in which the sternum is completely split or absent, and the heart lies partially or completely outside the thorax; 4) thoraco-abdominal, which usually accompanies Cantrell’s syndrome; 5) abdominal, in which the heart passes through a defect in the diaphragm to enter the abdominal cavity. 1,3,5,7-17 This case seems to belong to the thoracoabdominal type with a predominant thoracic component. The following characteristics were observed in this patient: cleft on lower sternum, anterior extrathoracic heart with ASD, VSD, and pulmonary stenosis, absence of parietal pericardium, and an omphalocele with supraumbilical abdominal wall defect. As such, this patient has all the classical components of Cantrell pentalogy, but absence of the diaphragmatic defect.
The majority of ectopia cordis patients have associated intracardiac defects. Ventricular septal defect, atrial septal defect, tetralogy of Fallot, and diverticulum of the ventricle are the most commonly encountered heart lesions. 1,3,5,7-17 The severity and the complexity of the intracardiac defect contribute largely to the poor prognosis associated with this malformation. 1,2,7,9,15,18,19 Ectopia cordis has also been reported with other congenital anomalies such as abdominal wall defects, cranial and facial malformations, cleft lip and palate, anencephaly, hydrocephaly, neural tube defects, pulmonary hypoplasia, genitourinary malformation, gastrointestinal defect, and chromosomal abnormalities. The prenatal diagnosis of ectopia cordis is easily made with ultrasound, which allows visualization of the heart outside the thoracic cavity.2 In cases with poor prognosis, early diagnosis may help to avoid cesarian section on a dying fetus.3 If the diagnosis of ectopia cordis is confirmed during the pregnancy, an early plan should be made for elective atraumatic cesarean delivery.1 Immediately after birth, the newborn should be stabilized and the lesion should be covered with saline-soaked gauze pads and wrapping to prevent desiccation and heat loss of the exposed viscera.1,2 After completing the preoperative evaluation, the patient should be taken promptly to the operation room for surgical repair of the defects.
Currently, the timing of surgery and the surgical approach are determined by the severity of presentation.10 The overall objectives of ectopia cordis management are: closure of the chest wall defect, including the sternal defect, repair of the associated omphalocele, placement of the heart into the thorax, and repair of the intracardiac defect. 1,5,9,19 Unfortunately, in most of the cases the thoracic cavity is small, and the mediastinum offers too little space for the heart. Attempts to close the chest wall after replacing the heart into the thoracic cavity often result in intolerable hemodynamic embarrassment secondary to kinking of the great vessels or compression of the heart muscle. 1,5,9,19 Therefore, a staged repair oftentimes is a necessary approach to correct this anomaly. The first priority is to obtain coverage of the exposed heart. This can be accomplished in some cases by mobilizing the skin over the chest wall and directly closing the skin. If this maneuver seems to cause hemodynamic instability, then either a skin grafting or prosthetic patch should be considered. 1,5,9,19 In one report, a Dacron patch was first placed to close the sternum defect, and then the skin flaps were approximated and closed. The Dacron patch offered good support to the thoracic cage and more protection to the heart into the thorax. This technique decreased the protrusion of the heart outside the thorax without compression.1 Some other techniques to repair the chest defect have been described in the medical literature. The potential advantages of staged repair are to minimize the compression of the heart and the big vessel, and to allow the thoracic cavity to expand gradually.
After a successful first-stage operation to provide coverage of the heart, the subsequent operations aim to repair the intracardiac defect and to reconstruct the chest wall. In most of the reported cases, the intracardiac defect repair was performed after the first stage operation.1 Nevertheless, if the intracardiac defect is “simple” and amenable to immediate surgical correction, it might be legitimate to repair it during the initial stage operation. In a case published in 1995, a repair of thoracic ectopia cordis was achieved successfully in a one-stage operation.9 Another reports in 2003, a successful single stage thoracoabdominal ectopia cordis was achieved.5
As the child grows, it becomes indicated to reconstruct the chest wall for protective and cosmetic reasons. Autologous rib grafts have been used with success to reform a bony thorax.1 This method is safe and reliable particularly if the amount of the native ribs is sufficient enough for graft donation without compromising the integrity of the patient’s chest wall. Another alternative is to use alloplastic materials to close the sternal defect and to reconstruct the chest wall. Unlike the initial first-stage repair of the chest that needs to be done soon after birth, the second-stage surgery to reconstruct the chest wall is an elective procedure usually done after the first year of life. 1,5,9,19
In conclusion, ectopia cordis is a rare congenital malformation which may require a staged procedure to achieve a complete repair. Prenatal ultrasound is still the best diagnostic tool for the pathology. Historically, the prognosis of this condition is poor. However, with the advances in all aspects of medicine, the number of infants who undergo successful surgical repair and survive is steadily increasing.
References
1. Kabbani et al. Thoraco-abdominal ectopia cordis: case report. Annals of Saudi Medicine 2002;22:366-68.
2. Yildirim G et al. Prenatal diagnosis of ectopia cordis.
3. Libersta MR, Janiat K, Wloch A. fetal echocardiography in ectopia cordis. Pediatr cardiol 2000;21:249-252.
4. Cabral TTJ et al. Extrathoracic heart in northern Camerroon: a case report. Pan African Medical Journal 2009;2:8-11.
5. Samir K, Ghez O, Metras D, Kreitmann B. Ectopia cordis: successful single stage thoracoabdominal repair. Interactive Cardiovasc and Thoracic Surgery 2003;2:611-13.
6. Morales JM et al. Ectopia cordis and other midline defects. Ann Thorac Surg 2000;70:111-4.
7. Alper B et al. A severe form of cantrell’s pentalogy with complete ectopia cordis.
8. Engum SA. Embryology, sternal clefts, ectopia cordis, and Cantrell’s pentalogy. Seminars in Pediatric Surgery 2008;17:154-60.
9. Amato JJ, Zelen J, Talwalkar NG. Single-stage repair of thoracic ectopia cordis. Ann Thorac Surg 1995;59:518-20.
10. Korver AMH, Haas F, Freund MW, Strengers JLM. Pentalogy of cantrell: successful early correction. Pediatr Cardiol 2008;29:146-49.
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14. McMahon CJ et al. Diagnosis of pentalogy of Cantrell in the fetus using magnetic resonance imaging and ultrasound. Pediatr Cardiol 2007;28:172-75.
15. Fernandez MS et al. Cantrell’s pentalogy. Report of four cases and their managements. Pediatr surg Int 1997;12:428-31.
16. Jimenez JFV et al. Cantrell’s syndrome: a challenge to the surgeon. Ann Thorac Surg 1998;65:1178-85.
17. Falcäo JLAA et al. Cantrell syndrome. Case report of an adult. Arq Bras Cardiol 2000;75(4):326-28.
18. Alphonso N, Venugopal PS, Deshponde R, Anderson D. Complete thoracic ectopia cordis. European Journal of Cardio-thoracic surgery 2003;23:426-28.
19. Airan B et al. Extrathoracic heart (ectopia cordis). Asian Cardiovasc Thorac Ann 2001;9:65-7.
20. Kanagasunthearm R, Verzin JA. Ectopia cordis in man. Thorax 1962;16:159-67.
21. Sharma VK et al. Challenges in the management of ectopia cordis. Journal of Cardiothoracic and Vascular Anesthesia 2001;15:618-23.
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