Thoracoabdominal Ectopia Cordis Research Articles

AMNIOTIC BAND SYNDROME AS A CAUSE OF ECTOPIA CORDIS THORACALIS AND OTHER CRANIOFACIAL DEFECTS

A 24 week gestation fetus, on ultrasound, was found to have Ectopia Cordis, besides other anomalies like frontonasal dysgenesis, facial cleft, hydrocephalus and a distorted skull vault. Fibrous bands were seen to be attached to the apex of the heart, face, and placenta. Isolated Ectopia Cordis occurs due to malformed thoracic chest wall during early embryogenesis. However, fibrous bands adherent to the heart causing mechanical forces may also lead to ectopia cordis, referred to as mechanical teratogenesis. These amniotic bands are formed due to early rupture of chorion or amnion in embryogenesis and a spectrum of defects is found following it, the variety of which is based upon the timing of rupture. As is illustrated by our ultrasound pictures and clinical specimens, a cephalic pointing cardiac apex secondary to tethering of the heart to frontonasal region of face by amniotic bands could be the etiology of this thoracoabdominal ectopia cordis Thus Ectopia cordis with amniotic bands appears to have an etiology entirely different from isolated ectopia cordis. This suggests distinct etiologies for ectopia cordis and in the light of literature, they have been discussed with this case report

Ectopia Cordis: a Rare Congenital Condition

Ectopia cordis is a rare congenital malformation and only few cases have been reported in literature previously. It is defined as the complete or partial evisceration of heart outside the thoracic cavity through the sternal defect. Most cases are sporadic. The classical presentation for the antenatal diagnosis on ultrasonography is a pulsating heart out of the thoracic cavity with absent chest wall.We reported three cases of ectopia cordis in the last one and half year in our institute. Two of them were diagnosed on ultrasound and the third case terminated for meningocele with severe oligohydramnios had associated ectopia cordis detected after delivery. All three were admitted via out patient department for termination. The first case live at birth had isolated thoracic ectopia cordis with birth weight of 2.4 kilograms, Apgar score of 7,8,9 and was delivered by caesarean section for failed induction while the other two were still birth and had thoraco-abdominal ectopia cordis. The live baby was taken to Sahid Gangalal hospital in Kathmandu by the visitors after two days of delivery and the baby underwent surgical intervention but had an unsuccessful outcome. Regarding the management of this condition, parental counseling for pregnancy termination is advised. Though few cases of surgical interventions for ectopia cordis have been reported, mortality rate is still very high.

Sternal malformations and anesthetic management.

Shamberger and Welch classify sternal malformations into four types: thoracic ectopia cordis, cervical ectopia cordis, thoraco-abdominal ectopia cordis, and cleft sternum. Cleft sternum is the most common subset, with a reported incidence of 1 in 50,000 to 100,000 live births, representing 0.15% of all anterior chest wall malformations. Acostello etal further classify cleft sternum into complete or partial (superior, medium, inferior) with a simple superior partial cleft sternum being by far the most common with an orthotopic heart, intact pericardium, and normal skin coverage. Associated anomalies with superior partial cleft sternum are rare, but can include cervicofacial hemangiomas, midline raphe from the tip of the cleft to the umbilicus, and PHACES (posterior fossa malformations, facial hemangiomas, arterial anomalies with coarctation of aorta, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe) syndrome. The more rare inferior partial clefts are associated with thoraco-abdominal ectopia cordis as part of the Pentalogy of Cantrell (omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis, ventricular septal defect/left ventricular diverticulum). This review summarizes the current knowledge of all four types of sternal malformations, and provides guidance for optimal anesthetic and perioperative care of these children.

Pentalogy of Cantrell with thoracoabdominal ectopia cordis: Attempted surgical correction and review of recent literature to aid prognostication prior to surgery

Complete ectopia cordis (EC) is a rare congenital condition where the heart is extrathoracic, uncovered by pericardium and skin. This condition is often accompanied by intracardiac as well as other congenital anomalies. The thoracoabdominal type is frequently associated with varying degrees of Pentalogy of Cantrell (POC). Unless addressed early post-natally, EC is incompatible with life. Surgery is usually staged, with cover of exposed organs an immediate priority, followed by repair of structural cardiac lesions. Formal repair of the chest wall is performed at a later stage. We present a case of thoracoabdominal EC with complete POC. The patient underwent surgery to cover the exposed heart and the abdominal wall defect, but demised within 48 h due to systemic sepsis. Data gained from a literature survey shows that if the congenital heart defect is haemodynamically stable, and if cover is achieved immediately after birth, there is an associated improved survival. In addition, antenatal diagnosis was found to improve planning of delivery, resulting in improved hemodynamic stability, decreased incidence of sepsis, shorter time to intervention and better overall survival.

Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound

In 1958, Cantrell et al [1] described a syndrome called the pentalogy of Cantrell (POC), consisting of deficiency of the anterior diaphragm, midline supraumbilical abdominal wall defect, defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and defect of the lower sternum. Although prenatal detection of POC has been reported previously, to date no prenatal illustration of POC by threedimensional (3D) ultrasound (US) has been described [2]. The application of 3D US in malformations, especially in the evaluation of small parts, appears to assist in prenatal diagnosis and to be clinically useful. The multiplanar planes proved most helpful in delineating the exact nature and anatomic level of the defect [3]. Here, we reported two cases of POC with different presentation diagnosed using two dimensional (2D) and three dimensional (3D) ultrasound (US). Case 1: A 19-year-old woman, gravida 1, para 0, was transferred to our hospital because of fetal congenital anomaly at 15 weeks of gestation. US revealed a crownerump length of 87.3 mm and the fetal heart outside the thorax by Doppler US. Omphalocele and marked spinal curvature were also observed (Fig. 1). After discussion with the patient and family, they decided on termination of the pregnancy. The thoracoabdominal ectopia cordis, left cleft sternum and abdominal wall defect, omphalocele, scoliosis, umbilical cord cyst, and polydactyly of the left hand were grossly observed in the arbutus (Fig. 2). The histopathologic examination at autopsy demonstrated the previously mentioned findings and left diaphragm deficiency with internal organs exposure. Microscopically, the internal organs were well developed. Moreover, the abortus revealed normal female karyotype. Case 2: A 32-year-old woman, gravida 1, para 0, was also transferred to our hospital for fetal abdominal wall defect at 13

Repair of ectopia cordis using a resorbable poly-l-lactic-polyglycolic acid plate in a patient with pentalogy of Cantrell

We present a case of a 10-month-old male infant with thoracoabdominal ectopia cordis, as part of Cantrell pentad, repaired using a poly-L-lactic-polyglycolic acid plate, a resorbable plating system widely used in craniomaxillofacial reconstruction. This is the first reported case of sternal reconstruction using a poly-L-lactic-polyglycolic acid plate. The repair was successfully carried out without cardiopulmonary compromise and good aesthetic outcome was achieved.

Chest Wall Reconstruction in Thoracoabdominal Ectopia Cordis

Ectopia cordis is a rare congenital defect characterized by complete or partial displacement of the heart outside the thoracic cavity. Repair of ectopia cordis can present a reconstructive challenge often requiring a staged approach. Ideally, structural integrity and protection of the heart are restored using autologous tissues capable of growth. In addition, reconstruction of the thorax must proceed without compromise to pulmonary or cardiovascular stability. The following article describes repair of thoracoabdominal ectopia cordis in a patient with pentalogy of Cantrell. Reconstruction of the chest wall was accomplished using a musculoosseus composite flap involving segments of the 9th and 10th ribs and overlying pedicled latissimus dorsi muscle. This is the first report known to the authors of such a repair.

Pentalogy of Cantrell Associated With Thoracoabdominal Ectopia Cordis

A 4-day-old female infant with a partially extrathoracic heart in her supraumbilical abdominal wall (Figure 1A) presented with symptoms of tachypnea and mild cyanosis. Physical examination showed a thoracoabdominal wall defect with thoracoabdominal ectopia cordis. The xyphoid was absent and the sternum was short. Oxygen room air saturation was 85%. Chest x-ray showed dextrocardia and descensus of the heart contour to the right epigastrium (Figure 1B). Helical computed tomography (CT) demonstrated a ventral thoracoabdominal wall defect with the 2 ventricles protruding through the defective anterior diaphragm to epigastrium and positioned on the liver (Figure 1C through 1E). Truncus arteriosus and persistent left superior vena cava were observed on helical CT imaging (Figure 1C and 1F). Also present were ventricular septal defect, atrial septal defect, patent ductus arteriosus, and overriding aorta. Magnetic resonance imaging and echocardiography also successfully visualized truncus arteriosus (Figure 1G and 1H; also, see Figure 2 and online-only Data Supplement Movies I through III). Repeated echocardiogram confirmed these intracardiac findings and …

Exposure of smoke solutions from CNG-powered four-stroke auto-rickshaws induces distressed embryonic movements, embryonic hemorrhaging and ectopia cordis

In south Asian countries, a campaign has launched to promote CNG-powered four-stroke auto-rickshaws (CNFAR) to decrease emission load in the environment. Even though, CNFAR are considered environmentally safe, emissions of some other toxic chemicals would amplify, which may effect the development of growing fetus and may result in different growth defects. By utilizing the in vivo chicken embryo model, this report analyzes the toxic potential of CNFAR smoke solutions (CNFARSS) on embryonic movements (EM) and cardiovascular development. Application of CNFARSS to embryos caused profound decline ( p < 0.001) in all four types of EMs. Several recovery attempts of all EMs were observed in oscillating fashion, however, EMs did not recover by the end of experiment. Exposure of CNFARSS escorted intense decline ( p < 0.001) with temperate recovery phases in the EM of tail. Macroscopic evaluation of all CNFARSS treated chicken embryos revealed several widespread hemorrhaging throughout the whole body. Moreover, four different types of ectopia cordis were prominently observed among all CNFARSS treated embryos, namely; incomplete ectopia cordis, complete ectopia cordis, cervico-thoracic ectopia cordis and thoraco-abdominal ectopia cordis.

Complete Ectopia Cordis

Complete ectopia cordis is a very rare condition. With few exceptions, it is uniformly considered fatal. Death usually occurs within the first days of life as a result of infection, cardiac failure, or hypoxemia. We report the case of a male infant with Cantrell’s syndrome. There was complete thoracic exteriorization of the heart, with cephalic orientation of the cardiac apex (Figure 1). The cardiac surface was covered by …

Ectopia cordis in a fetus with trisomy 18

Trisomy 18 is the second-most common autosomal trisomy and represents one third of the chromosomal trisomies identified prenatally. We present a case of a fetus with trisomy 18 in which thoracoabdominal ectopia cordis was detected prenatally; it was noted as a dominant defect on a sonographic examination performed at 19 weeks' gestation. Furthermore, our case exhibits a rare type of multiple-marker screening result with increased maternal serum alpha-fetoprotein. This case demonstrates the need for thorough sonographic evaluation of the fetal thoracoabdominal wall as early as possible, because fetal ectopia cordis can be the major abnormality of trisomy 18.

Primary closure of thoraco-abdominal ectopia cordis

Thoraco-abdominal ectopia cordis is an unusual congenital anomaly. The case of a 45-days-old female child, who presented with a defect in the chest and upper abdomen and visible cardiac pulsations and bulge during crying, is being reported. There was an inferior sternal cleft with divarication of the recti up to the umbilicus. The cleft was covered with a thin translucent membrane. Primary repair was accomplished successfully without causing mediastinal compression.

Thorakoabdominale Ectopia cordis (Cantrell-Pentalogie): Pränatale Diagnostik und neonatologischer Verlauf

A 17-year-old primigravida was referred at 31 + 6 weeks' gestation because of a supraumbilical fetal midline defect, thoracoabdominal ectopia cordis, and sternal aplasia. Fetal echocardiography showed a double-outlet right ventricle with pulmonary artery stenosis and a ventricular septal defect. Karyotyping was declined. After premature rupture of the membranes at 36+5 weeks'gestation a 3000-g male infant was delivered by cesarean section. The Apgar scores were 3/3 and the arterial cord blood pH was 7.26. Tissue coverage of the supraumbilical defect and the omphalocele was performed. Hemodynamic instability precluded primary replacement of the heart into the thorax. To relieve pressure a corset was fashioned for the thorax. The double-outlet right ventricle was corrected at 5 months. At 17 months the child is alive and stable. Replacement of the extrathoracic heart is planned at a later date.

Ectopia cordis and other midline defects

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 newborn 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 tetralogy 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.

A new technique for the repair of large pericardial defects in patients with pentalogy of Cantrell

Thoracoabdominal ectopia cordis is a rare congenital malformation usually associated with anterior diaphragmatic and pericardial defects, a short or bifid sternum, and intracardiac defects. Several techniques have been attempted for the correction of this anomaly. We report a patient with a large pericardial defect that was repaired with remnants of the omphalocele sac. The method is simple and effective, and should be considered as an alternative for the management of this disease.

Ectopia cordis and cleft sternum: Evidence for mechanical teratogenesis following rupture of the chorion or yolk sac

We present case material and a literature survey to document the association between ectopia cordis and band disruption anomalies. The occurrence of thoracic ectopia cordis with a cephalic-pointing cardiac apex suggests an arrest of cardiac descent at 3 weeks of development, consistent with our finding of ectopia cordis in a 28-day human embryo. Mechanical compression secondary to rupture of the chorion and/or yolk sac at 3 weeks of gestation would interfere with normal cardiac descent and compress the chest, yielding thoracic and pulmonary hypoplasia. Congenital heart defects associated with ectopia cordis may represent deformations secondary to mechanical distortion of the developing heart following early rupture of the chorion and/or yolk sac. As is illustrated by our clinical specimens, tethering of the heart to periumbilical structures by bands could yield thoracoabdominal ectopia cordis. The milder anomaly of cleft sternum, which is also associated with band disruptions, may occur later in development following rupture of the chorion, yolk sac, or amnion.

Immediate Operation for Ectopia Cordis

Forty-one infants with thoracoabdominal ectopia cordis have been reported to date; 9 of them survived. Among the patients with an omphalocele as the abdominal wall defect, however, only 2 survived. Death in this group of patients occurred almost exclusively as a consequence of either attempted coverage of the heart or secondary to the associated intracardiac lesion. We report here the case of a patient recently treated in whom coverage with a temporary Silastic prosthesis protected the exposed heart from infection and rupture of the sac, thus permitting full cardiac investigation before operation.

Thoracoabdominal Ectopia Cordis With Mosaic Turner's Syndrome: Report of a Case

A child was treated for thoracoabdominal ectopia cordis and an associated chromosomal defect. Contrary to most cases in which death is due to the externally situated heart and abdominal viscera, this patient died from congenital heart disease.

THORACOABDOMINAL ECTOPIA CORDIS: Report of a Case Successfully Treated by Surgery

THORACOABDOMINAL ECTOPIA CORDIS: Report of a Case Successfully Treated by Surgery