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Extrathoracic heart (ectopia cordis). Report of two cases and review of the literature
Internarional Journal of Cardiology, Elsevier
22 (1989) 221-228
221
IJC 00815
Extrathoracic
heart (ectopia cordis). Report of two cases and review of the literature
F. Leca I, M. Thibert 4, W. Khoury ‘, L. Fermont 2, F. Laborde ’ and Y. Dumez 3 ’ HSpital Laennec, Paris, France; ’ Centre d’tkhographie de /‘O&on, Paris, France; ’ H6pital Port-Royal, Paris, France; ’ HGpital Necicer Enfants-Malades,
Paris, France
(Received 3 September 1987; revision accepted 26 April 1988)
Leca F, Thibert M, Khoury W, Fermont L, Laborde F, Dumez Y. Extrathoracic Report of two cases and review of the literature. Int J Cardiol 1989;22:221-228.
heart (ectopia cordis).
We report 2 cases of extrathoracic heart (ectopia cordis) operated on a few hours after birth at Laennec Hospital, Paris. The first patient had an associated diastasis of the rectus muscles. The second one, in whom diagnosis was made by ultrasound during fetal life, had a normal abdominal wall. In both cases it was possible to accommodate the heart in the left pleural cavity after a wide dissection of the posterior mediastinum. Both babies, however, died soon after the operation. Double outlet right ventricle was found in both. We have reviewed those cases previously described and discuss the importance of prenatal echocardiographic diagnoss in this rare condition. Key words: Extrathoracic heart disease
heart; Ectopia cordis; Cantrell syndrome; Fetal echocardiography;
Introduction An extrathoracic heart (ectopia cordis) is the rare condition in which the heart is located outside the confines of the chest cavity. The cases are usually categorized according to whether the heart is anterior to the sternum (thoracic type), within the abdomen (abdominal type), between the thorax and the abdomen (thoraco-abdominal type), or in the neck (cervical type). We report two cases of the thoracic variant operated on at the Laennec Hospital in Paris.
Correspondence to: F. Leca, H&pita1 Laennec, 42, rue de S&es, 75007 Paris, France. 0167-5273/89/$03.50
Congenital
Patients Case 1 D.M. was a baby girl (weight 2.6 kg) delivered at the end of an uncomplicated pregnancy at Port-Royal Hospital in May 1981. She was transferred to our institution 10 hours later because of the presence of an extrathoracic heart. On examination, a midline defect was noted in the thoraco-abdominal wall which extended from the manubrium of the sternum to the umbilicus. The abdominal portion of the defect was covered by skin and the peritoneum was intact. In contrast, the heart was completely exposed outside the thorax, the sternum being split to the manubrium.
0 1989 Elsevier Science Publishers B.V. (Biomedical Division)
222 TABLE
1
Summary of the details of the reported cases. Case details
Case 1
Case 2
Age at presentation Sex Birth weight (g) Abdominal wall defect Sternal defect
10 Hours Female 2600 Diastasis recti Complete sternal cleft
4 Hours Male 3400 Nil
Diaphragmatic defect Pericardium defect Cardiac defect
Absent Present Double outlet right ventricle Coarctation of the aorta Left superior caval vein Nil Dead 5 hours post-operatively
Associated anomalies Outcome
From the external findings it was not possible to make any comment on the internal cardiac anatomy. An emergency operation was performed with the aim of repositioning the heart in the chest cavity. A wide dissection of the posterior mediastinum and the vascular connexions was carried out in order to achieve mobilization of the heart. It was noted that the aorta and the pulmonary trunk were lying side by side. The first attempt to accommodate the heart in the left pleural space resulted in a kinking of the vascular pedicle which was not tolerated hemodynamically. The left diaphragm was plicated to overcome this problem. This maneuver created more space in the left thoracic cavity, thus necessitating less twisting of the heart during its repositioning and resulted in better hemodynamics. The thoracic wall was reconstituted with skin flaps and the defect in the abdominal wall repaired directly. Hypotension occurred immediately after closure which responded to infusion of dopamine and regitine. The hemodynamic condition then remained satisfactory and stable but, 5 hours later in the intensive care unit, following accidental extubation, there was a cardiorespiratory arrest from which the baby could not be resuscitated. The autopsy showed the usual atria1 arrangement with a concordant atrioventricular connexion and double outlet right ventricle. The left superior caval vein drained into the coronary sinus. An atrial septal defect, a ventricular septal
Split sternum except upper and lower 1 cm Absent Present Double outlet right ventricle Left superior caval vein Nil Dead at operative repair
defect in sub-pulmonary location and coarctation of the aorta were also present (Table 1). case2 A 24-year-old woman underwent an ultrasound examination at the 32nd week of pregnancy which showed polyhydramnios and an extrathoracic heart. No intracardiac anomalies could be detected other than a ventricular septal defect. The presence of two atrioventricular valves and two ventricles was noted, but no precise information about the ventriculo-arterial connexions and relations could be obtained (Fig. 1). The male infant (birth weight 3.4 kg) was delivered at term at Port-Royal Hospital on 13 April 1984. The diagnosis of an extrathoracic heart was confirmed and the baby was transferred to our unit for surgery 4 hours later. On admission, the baby was slightly cyanosed in spite of artificial ventilation. The peripheral perfusion was good and all pulses were present. The heart protruded through an incomplete sternal defect so that it lay outside the mediastinum. The pericardium was absent and there was no skin cover. The cardiac apex pointed towards the chin, the heart being rotated through 90 degrees in the frontal plane so that the diaphragmatic surface was anterior and the anterior surface faced the thorax (Figs. 2 and 3). At operation, on opening the upper and lower sternal bridges, an abnormal relationship of the great
223
Fig. 1. Ultrasonic examination. 1 = heart; 2 = thoracic defect; 3 = hydramnios; 4 = lungs.
vessels was noted with the aorta being located anteriorly. The venous connexions of the. heart were mobilized by sharp dissection, the left pleura
was widely open and the heart was relocated in the left thoracic cavity where it appeared to function satisfactorily (Table 1). The arterial blood
Figs. 2 and 3. Thoracic ectopia cordis. The heart protudes through the sternum. The pericardium is absent and there is no skin cover. The apex is pointing towards the chin.
224
Fig. 3.
had remained desaturated during the operation in spite of normal ventilation, suggesting an associated intracardiac anomaly. Shin flaps were widely mobilized and, although it would have been possible to achieve direct closure, a Sucarcil patch was used to cover the heart without any compression. Subsequent to the procedure there was a gradual deterioration in the hemodynamics and, in spite of pharmacological support, the baby died in the operating room. At autopsy, the heart showed usual atria1 arrangement, a concordant atrioventricular connexion and double outlet right ventricle. There was a superior left caval vein which drained into the coronary sinus along with an atrial septal defect, a ventricular septal defect and hypoplasia of the left ventricle.
term “ectopia cordis” has been used to describe all anomalies in which the heart is not located within the thorax [2]. The first observation of it is generally attributed to Haller [3] in 1706, but such malformations were recorded in the writing of the ancient Babylonians [4]. Weese [5] in 1818 and Todd [6] in 1836, classified “ectopia cordis” into three types: cervical, abdominal, and thoracic. Roth [7], in a collective review published in 1939, was able to find records of 83 cases. Byron [2] summarized 142 cases and proposed a fourth type: the thoraco-abdominal type. It is this last
TABLE 2 Extrathoracic
heart. No.
Discussion An extrathoracic heart (ectopia cordis) was defined by Abbott [l] as a congenital malformation in which the heart is located out of the thorax, coming to lie upon the outer surface of body or within the abdominal cavity. Subsequently, the
Cervical Thoracic Abdominal Tboraco-abdominal unknown Total
18 80 24 79 16 217
% 8.5 37 11 36 1.5 100
225 TABLE
3
Analysis of defects noted in 217 cases. Sternal defect
No. of cases
Abdominal wall defect
No. of cases
Completely absent Xyphoid defect Manubrial defect Defect of body of sternum Partial defect
10 10 3 10 2 24 11 10 -
Omphalocele Diastasis recti Eventration Umbilical hernia
40 15 8 3
Onethird lower sternum defect Two-thirds lower sternum Bifid sternum Total
80
66
Total
group which Cantrell [8] established as a syndrome. The criteria for its existence were: a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium, and congenital intracardiac defects. Toyama [9] then reviewed and classified these into three groups according to a modification of Cantrell’s format: cases in which the diagnosis is certain or probable, those in which there is some doubt that all five anomalies are present, and those cases of incomplete expression of the syndrome. Added to our two cases, an additional 217 cases from those reported in the literature (Table 2) were analysed and classified. Eighteen cases (8.5%) could be classified as cervical, since the heart was located in the neck, with the sternum usually
Not reported
71
intact but sometimes with a cleft of the upper sternum. Eighty cases fulfilled the criteria for the thoracic type (37%) with fissure of the sternum and the heart lying partially or completely outside the thorax. Twenty-four cases fell into the abdominal variant (ll%), the heart passing through a defect in the diaphragm into the abdominal cavity. The thoraco-abdominal type (Cantrell syndrome) comprised 79 cases (36.5%). Information was not sufficient for classification in 16 cases (7.5%). Overall, 2/3 of cases were male. One third were stillborn, l/3 premature, and the other third born at term. Anatomic lesions These are correlated for the 217 cases as shown in Table 3. The sternum may be completely ab-
TABLE 4 Intra-cardiac anomalies associated with extrathoracic heart. Type of EC
ASD
VSD
TOF
PS
DLV
TGA
DORV
TA
CAT
Absent
Others
Heart grossly deformed
No. reported
CervicaI 18 cases Thoracic 80 cases Abdominal 24cases Thoraco-abdominal 78 cases
18 3
9
2
1
1
2
3
6
2
65 24
23
23
7
11
11
3
ASD = atrial septal defect; VSD= ventricular septal defect; diverticulum of left ventricle; TGA = complete transposition; CAT = common arterial trunk.
2
5
4
3
22
4
25
TOF = tetralogy of Fallot; PS = pulmonary stenosis; DLV = DORV = double outlet right ventricle; TA = tricuspid atresia;
226
sent, show a partial defect or can be intact (two cases of thoracic type). Diaphragmatic, pericardial and abdominal wall defects have been present to some degree in all adequately described cases. Omphalocele is the most common abdominal wall defect. The other defects described are diastasis of the rectus muscles, eventration and umbilical hernia. The heart may be covered with a thin layer of skin or may be completely exposed as in the two cases reported here. In others a pericardial sack is present. In several cases of the abdominal type, the skin covers the thoracic wall. The pericardial anatomy is reported in only 54 of the 217 cases. The pericardium is absent in 44 cases (81.4%), intact in 8 (14.8%) and partially deficient in 2. The heart itself was structurally normal in 6 cases only [9]. Intracardiac defects were present in 129 of the 135 cases reported. A ventricular septal defect was present in 60 cases (46%). Tetralogy of Fallot was seen in 9 cases (6.9%) and diverticulum of the left ventricle in 12 (9.3%). Other cardiac anomalies are left superior caval vein, double outlet right ventricle (our 2 cases), complete transposition and tricuspid atresia (Table 4). Other congenital abnormalities were present in 45 of the 65 cases studied (70%). They are mostly cranial and facial anomalies such as hydrocephalus, cleft palate and cleft lip.
many years. The latter patients almost all had an abdominal or thoraco-abdominal heart with normal anatomy or an intracardiac defect compatible with life (diverticulum of the left ventricle, ventricular septal defect, and so on). Role of echwardiography Improvement of equipment along with introduction of systematic scans of the fetal heart have permitted reliable diagnosis of fetal arrhythmias and congenital heart diseases. Extrathoracic heart is readily diagnosed in this fashion. The heart is easily visualized “swinging” in the amniotic fluid through a thoracic breach (or within an omphalocele in cases of thoraco-abdominal type). A case was recently reported by Anderson et al. [12] with tricuspid atresia but the infant did not come to term. The problem with fetal diagnosis is to select those intracardiac defects which are amenable to operative treatment, such as isolated ventricular septal defects, from others, such as atrioventricular septal defects or double outlet right ventricle, which carry a much more severe surgical prognosis in the neonate. A thorough examination of the fetal heart and a collaboration between obstetrician and pediatric cardiologist [13] are the prerequisites for a careful prognosis, in selected cases sometimes leading to termination of pregnancy.
Prognosis
Management
The life expectancy varies considerably with the site of the ectopic heart and the presence of associated abnormalities. The cervical type appears to be incompatible with life. The prognosis is better for the thoracic type. A number of patients with the abdominal type have lived until adult age. Although life with an extrathoracic heart is usually short, Kellett [lo] in 1936 and Blatt [ll] in 1942 stated that the average duration of life was 36 hours. Many of the patients reported were stillborn, others were premature and lived only a few hours. In these series, the longest duration of life was eight days. In the total series, the extent of life was reported in over 100 cases. Seventy patients were stillborn or lived a few hours or days, 17 patients lived some months and only 16 lived
Surgical attempts to correct the thoracic and thoraco-abdominal types of ectopic heart have been entirely unsuccessful. Nevertheless, the abdominal type may be compatible with long life. The poor prognosis is related to the severity of the intracardiac defects. The surgical problems include the following: the type of extrathoracic heart, the smallness of the chest cavity; kinking of the great vessels and fatal compromise of cardiac function; and the absence of normal skin above the heart. In these latter cases, the heart is only covered by serous pericardium. In the combined abdomino-thoracic cases, the heart is usually better covered by the body wall, having a covering of skin or membrane
WI.
221
If the mediastinum offers too little space for the heart, the left pleural cavity may be utilised. A left lower lobectomy may then be considered. Koop (personal communication) suggested detaching the anterior diaphragm from the thorax and attaching it to the abdominal wall. Others [14] have used pericardial and diaphragmatic remnants. Some ribs can also be removed. Angulation of the great vessels can be minimised if they are dissected as free as possible. For covering the heart, the skin of the baby can be extensively mobilized without producing cardiac compression. If this is not possible, some synthetic cover can be used. The treatment of the omphalocele and abdominal wall defect varies according to their extent and content. A major unruptured omphalocele containing a large proportion of liver and intestine can be treated nonoperatively [15]. The sack can be painted with 2% solution of mercurochrome until the formation of a solid scar. This permits deferment of definitive surgical repair until complete epithelization of the sack (6-9 months). In infants in whom the contents of the omphalocele can be completely reduced into the abdominal cavity without producing respiratory difficulties, total surgical reconstruction of the defect can be carried out in the neonatal period. Alternatively a large omphalocele can be managed using prosthetic material which is removed in stages. Repair of the cardiac lesions must be judged in individual cases, since the diagnosis in the neonates is often difficult. Nevertheless, a ventricular diverticulum should be amenable to immediate surgery. A successful repair was reported 40 years ago along with repair of the defect in the abdominal wall and diaphragm. The risk of spontaneous rupture of the diverticulum is one of major reasons for recommending surgical excision even in the presence of additional intracardiac anomalies. Symbas and Ware [17] reported a case which was repaired in one stage with the use of cardiopulmonary bypass. The diverticulum was excised. With the exception of an omphalocele, which should be corrected as soon as possible, the extracardiac defects are essentially of cosmetic importance and have not been the cause of serious functional complications. Nonetheless, the mortal-
ity rate of infants operated upon below the age of one year has been alarmingly high. With the progress of echocardiography and angiographic studies, along with surgical progress in recent years, the surgical prognosis is now much better. In conclusion, a review of the literature, along with our own experience, leads us to advise the following for infants with extrathoracic heart. When the diagnosis has been made by fetal echocardiography, two possibilities should be considered with the parents participating actively in the decision: interruption of pregnancy or attempted heroic surgical repair. Delivery by cesarean section should be avoided, and, when delivered, the neonate should be referred promptly to a trained pediatric cardiosurgical team. The following program could be proposed. First: temporary coverage of the heart with a silastic prosthesis or skin flaps. Secondly: complete diagnosis of the intracardiac defect. Thirdly: whenever possible, the decision to operate should be taken according to the findings.
References Abbott FC. Congenital abnormality of sternum and diaphragm; protrusion of the heart in the epigastric region. Tram Path01 Sot London 1898;69:57-59. Byron F. Ectopia cordis: report of a case with attempted operative correction. J Thorac Surg 1949;17:717-722. Haller JA, Cantrell JR. Diagnosis and surgical correction of combined congenital defect of supra umbilical abdominal wall, lower sternum and diaphragm. J Thorac Cardiovasc Surg 1966;51:286-291. Rashkind WJ. Congenital heart disease. Benchmark Papers in Human Physiology. 1982;16:91-94. Weese C. De cordis ectopia. Inaugural Dissertation. Berlin: J.F. Stark, 1919. Todd RB. Abnormal condition of heart. In: The encyclopaedia of anatomy and physiology. London, 1936;630-639. Roth F. Motphologie und Pathogenese der Ectopia cordis congenita. Frankf Z Path01 1939;53:60-99. Cantrell JR, Haller JA, Ravitch MMA. Syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynec Obstet 1984;107:602-614. Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart. A case report and review of the syndrome. Pediatrics 1972;50:778-786.
228 10 Kellett CE. Ectopia cordis. Cum stemi fissura. Arch Dis Childhood 1936;11:205-214. 11 Blatt ML, Zeldes M. Ectopia cordis: report of a case and review of the literature. Am J Dis Child 1942;63:515-529. 12 Anderson RH, Macartney FJ, Sbineboume EA, Tynan M. Paediatric cardiology. Edinburgh: Churchill Livingstone, 1987;1057-1059. 13 Fermont L, De Getter B, Aubry MC, Kachaner J, Sidi D. A close collaboration between obstetricians and pediatric cardiologists allows antenatal detection of severe cardiac malformations by two-dimensional echocardiography. Pediatr Cardiol1985;34-37.
14 Scott GW. Ectopia cordis. Report of a case successfully treated by operation. Guy’s Hosp Rep 1955;104:55-66. 15 Eraklis AJ, Trump DS, Longino LA. Omphalocele with diaphragmatic and pericardial defects: diagnosis and repair. J Pediatr Surg 1967;2:354-363. 16 Ravitch MM. In: Pediatric surgery. Chicago: Year book Publishers, 1962;227-247. 17 Symbas PN, Ware RE. A syndrome of defects of the thoraco-abdominal wall, diaphragm, pericardium and heart. One stage surgical repair and analysis of the syndrome. J Thorac Cardiovasc Surg 1973;65:914-919.
22 (1989) 221-228
221
IJC 00815
Extrathoracic
heart (ectopia cordis). Report of two cases and review of the literature
F. Leca I, M. Thibert 4, W. Khoury ‘, L. Fermont 2, F. Laborde ’ and Y. Dumez 3 ’ HSpital Laennec, Paris, France; ’ Centre d’tkhographie de /‘O&on, Paris, France; ’ H6pital Port-Royal, Paris, France; ’ HGpital Necicer Enfants-Malades,
Paris, France
(Received 3 September 1987; revision accepted 26 April 1988)
Leca F, Thibert M, Khoury W, Fermont L, Laborde F, Dumez Y. Extrathoracic Report of two cases and review of the literature. Int J Cardiol 1989;22:221-228.
heart (ectopia cordis).
We report 2 cases of extrathoracic heart (ectopia cordis) operated on a few hours after birth at Laennec Hospital, Paris. The first patient had an associated diastasis of the rectus muscles. The second one, in whom diagnosis was made by ultrasound during fetal life, had a normal abdominal wall. In both cases it was possible to accommodate the heart in the left pleural cavity after a wide dissection of the posterior mediastinum. Both babies, however, died soon after the operation. Double outlet right ventricle was found in both. We have reviewed those cases previously described and discuss the importance of prenatal echocardiographic diagnoss in this rare condition. Key words: Extrathoracic heart disease
heart; Ectopia cordis; Cantrell syndrome; Fetal echocardiography;
Introduction An extrathoracic heart (ectopia cordis) is the rare condition in which the heart is located outside the confines of the chest cavity. The cases are usually categorized according to whether the heart is anterior to the sternum (thoracic type), within the abdomen (abdominal type), between the thorax and the abdomen (thoraco-abdominal type), or in the neck (cervical type). We report two cases of the thoracic variant operated on at the Laennec Hospital in Paris.
Correspondence to: F. Leca, H&pita1 Laennec, 42, rue de S&es, 75007 Paris, France. 0167-5273/89/$03.50
Congenital
Patients Case 1 D.M. was a baby girl (weight 2.6 kg) delivered at the end of an uncomplicated pregnancy at Port-Royal Hospital in May 1981. She was transferred to our institution 10 hours later because of the presence of an extrathoracic heart. On examination, a midline defect was noted in the thoraco-abdominal wall which extended from the manubrium of the sternum to the umbilicus. The abdominal portion of the defect was covered by skin and the peritoneum was intact. In contrast, the heart was completely exposed outside the thorax, the sternum being split to the manubrium.
0 1989 Elsevier Science Publishers B.V. (Biomedical Division)
222 TABLE
1
Summary of the details of the reported cases. Case details
Case 1
Case 2
Age at presentation Sex Birth weight (g) Abdominal wall defect Sternal defect
10 Hours Female 2600 Diastasis recti Complete sternal cleft
4 Hours Male 3400 Nil
Diaphragmatic defect Pericardium defect Cardiac defect
Absent Present Double outlet right ventricle Coarctation of the aorta Left superior caval vein Nil Dead 5 hours post-operatively
Associated anomalies Outcome
From the external findings it was not possible to make any comment on the internal cardiac anatomy. An emergency operation was performed with the aim of repositioning the heart in the chest cavity. A wide dissection of the posterior mediastinum and the vascular connexions was carried out in order to achieve mobilization of the heart. It was noted that the aorta and the pulmonary trunk were lying side by side. The first attempt to accommodate the heart in the left pleural space resulted in a kinking of the vascular pedicle which was not tolerated hemodynamically. The left diaphragm was plicated to overcome this problem. This maneuver created more space in the left thoracic cavity, thus necessitating less twisting of the heart during its repositioning and resulted in better hemodynamics. The thoracic wall was reconstituted with skin flaps and the defect in the abdominal wall repaired directly. Hypotension occurred immediately after closure which responded to infusion of dopamine and regitine. The hemodynamic condition then remained satisfactory and stable but, 5 hours later in the intensive care unit, following accidental extubation, there was a cardiorespiratory arrest from which the baby could not be resuscitated. The autopsy showed the usual atria1 arrangement with a concordant atrioventricular connexion and double outlet right ventricle. The left superior caval vein drained into the coronary sinus. An atrial septal defect, a ventricular septal
Split sternum except upper and lower 1 cm Absent Present Double outlet right ventricle Left superior caval vein Nil Dead at operative repair
defect in sub-pulmonary location and coarctation of the aorta were also present (Table 1). case2 A 24-year-old woman underwent an ultrasound examination at the 32nd week of pregnancy which showed polyhydramnios and an extrathoracic heart. No intracardiac anomalies could be detected other than a ventricular septal defect. The presence of two atrioventricular valves and two ventricles was noted, but no precise information about the ventriculo-arterial connexions and relations could be obtained (Fig. 1). The male infant (birth weight 3.4 kg) was delivered at term at Port-Royal Hospital on 13 April 1984. The diagnosis of an extrathoracic heart was confirmed and the baby was transferred to our unit for surgery 4 hours later. On admission, the baby was slightly cyanosed in spite of artificial ventilation. The peripheral perfusion was good and all pulses were present. The heart protruded through an incomplete sternal defect so that it lay outside the mediastinum. The pericardium was absent and there was no skin cover. The cardiac apex pointed towards the chin, the heart being rotated through 90 degrees in the frontal plane so that the diaphragmatic surface was anterior and the anterior surface faced the thorax (Figs. 2 and 3). At operation, on opening the upper and lower sternal bridges, an abnormal relationship of the great
223
Fig. 1. Ultrasonic examination. 1 = heart; 2 = thoracic defect; 3 = hydramnios; 4 = lungs.
vessels was noted with the aorta being located anteriorly. The venous connexions of the. heart were mobilized by sharp dissection, the left pleura
was widely open and the heart was relocated in the left thoracic cavity where it appeared to function satisfactorily (Table 1). The arterial blood
Figs. 2 and 3. Thoracic ectopia cordis. The heart protudes through the sternum. The pericardium is absent and there is no skin cover. The apex is pointing towards the chin.
224
Fig. 3.
had remained desaturated during the operation in spite of normal ventilation, suggesting an associated intracardiac anomaly. Shin flaps were widely mobilized and, although it would have been possible to achieve direct closure, a Sucarcil patch was used to cover the heart without any compression. Subsequent to the procedure there was a gradual deterioration in the hemodynamics and, in spite of pharmacological support, the baby died in the operating room. At autopsy, the heart showed usual atria1 arrangement, a concordant atrioventricular connexion and double outlet right ventricle. There was a superior left caval vein which drained into the coronary sinus along with an atrial septal defect, a ventricular septal defect and hypoplasia of the left ventricle.
term “ectopia cordis” has been used to describe all anomalies in which the heart is not located within the thorax [2]. The first observation of it is generally attributed to Haller [3] in 1706, but such malformations were recorded in the writing of the ancient Babylonians [4]. Weese [5] in 1818 and Todd [6] in 1836, classified “ectopia cordis” into three types: cervical, abdominal, and thoracic. Roth [7], in a collective review published in 1939, was able to find records of 83 cases. Byron [2] summarized 142 cases and proposed a fourth type: the thoraco-abdominal type. It is this last
TABLE 2 Extrathoracic
heart. No.
Discussion An extrathoracic heart (ectopia cordis) was defined by Abbott [l] as a congenital malformation in which the heart is located out of the thorax, coming to lie upon the outer surface of body or within the abdominal cavity. Subsequently, the
Cervical Thoracic Abdominal Tboraco-abdominal unknown Total
18 80 24 79 16 217
% 8.5 37 11 36 1.5 100
225 TABLE
3
Analysis of defects noted in 217 cases. Sternal defect
No. of cases
Abdominal wall defect
No. of cases
Completely absent Xyphoid defect Manubrial defect Defect of body of sternum Partial defect
10 10 3 10 2 24 11 10 -
Omphalocele Diastasis recti Eventration Umbilical hernia
40 15 8 3
Onethird lower sternum defect Two-thirds lower sternum Bifid sternum Total
80
66
Total
group which Cantrell [8] established as a syndrome. The criteria for its existence were: a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium, and congenital intracardiac defects. Toyama [9] then reviewed and classified these into three groups according to a modification of Cantrell’s format: cases in which the diagnosis is certain or probable, those in which there is some doubt that all five anomalies are present, and those cases of incomplete expression of the syndrome. Added to our two cases, an additional 217 cases from those reported in the literature (Table 2) were analysed and classified. Eighteen cases (8.5%) could be classified as cervical, since the heart was located in the neck, with the sternum usually
Not reported
71
intact but sometimes with a cleft of the upper sternum. Eighty cases fulfilled the criteria for the thoracic type (37%) with fissure of the sternum and the heart lying partially or completely outside the thorax. Twenty-four cases fell into the abdominal variant (ll%), the heart passing through a defect in the diaphragm into the abdominal cavity. The thoraco-abdominal type (Cantrell syndrome) comprised 79 cases (36.5%). Information was not sufficient for classification in 16 cases (7.5%). Overall, 2/3 of cases were male. One third were stillborn, l/3 premature, and the other third born at term. Anatomic lesions These are correlated for the 217 cases as shown in Table 3. The sternum may be completely ab-
TABLE 4 Intra-cardiac anomalies associated with extrathoracic heart. Type of EC
ASD
VSD
TOF
PS
DLV
TGA
DORV
TA
CAT
Absent
Others
Heart grossly deformed
No. reported
CervicaI 18 cases Thoracic 80 cases Abdominal 24cases Thoraco-abdominal 78 cases
18 3
9
2
1
1
2
3
6
2
65 24
23
23
7
11
11
3
ASD = atrial septal defect; VSD= ventricular septal defect; diverticulum of left ventricle; TGA = complete transposition; CAT = common arterial trunk.
2
5
4
3
22
4
25
TOF = tetralogy of Fallot; PS = pulmonary stenosis; DLV = DORV = double outlet right ventricle; TA = tricuspid atresia;
226
sent, show a partial defect or can be intact (two cases of thoracic type). Diaphragmatic, pericardial and abdominal wall defects have been present to some degree in all adequately described cases. Omphalocele is the most common abdominal wall defect. The other defects described are diastasis of the rectus muscles, eventration and umbilical hernia. The heart may be covered with a thin layer of skin or may be completely exposed as in the two cases reported here. In others a pericardial sack is present. In several cases of the abdominal type, the skin covers the thoracic wall. The pericardial anatomy is reported in only 54 of the 217 cases. The pericardium is absent in 44 cases (81.4%), intact in 8 (14.8%) and partially deficient in 2. The heart itself was structurally normal in 6 cases only [9]. Intracardiac defects were present in 129 of the 135 cases reported. A ventricular septal defect was present in 60 cases (46%). Tetralogy of Fallot was seen in 9 cases (6.9%) and diverticulum of the left ventricle in 12 (9.3%). Other cardiac anomalies are left superior caval vein, double outlet right ventricle (our 2 cases), complete transposition and tricuspid atresia (Table 4). Other congenital abnormalities were present in 45 of the 65 cases studied (70%). They are mostly cranial and facial anomalies such as hydrocephalus, cleft palate and cleft lip.
many years. The latter patients almost all had an abdominal or thoraco-abdominal heart with normal anatomy or an intracardiac defect compatible with life (diverticulum of the left ventricle, ventricular septal defect, and so on). Role of echwardiography Improvement of equipment along with introduction of systematic scans of the fetal heart have permitted reliable diagnosis of fetal arrhythmias and congenital heart diseases. Extrathoracic heart is readily diagnosed in this fashion. The heart is easily visualized “swinging” in the amniotic fluid through a thoracic breach (or within an omphalocele in cases of thoraco-abdominal type). A case was recently reported by Anderson et al. [12] with tricuspid atresia but the infant did not come to term. The problem with fetal diagnosis is to select those intracardiac defects which are amenable to operative treatment, such as isolated ventricular septal defects, from others, such as atrioventricular septal defects or double outlet right ventricle, which carry a much more severe surgical prognosis in the neonate. A thorough examination of the fetal heart and a collaboration between obstetrician and pediatric cardiologist [13] are the prerequisites for a careful prognosis, in selected cases sometimes leading to termination of pregnancy.
Prognosis
Management
The life expectancy varies considerably with the site of the ectopic heart and the presence of associated abnormalities. The cervical type appears to be incompatible with life. The prognosis is better for the thoracic type. A number of patients with the abdominal type have lived until adult age. Although life with an extrathoracic heart is usually short, Kellett [lo] in 1936 and Blatt [ll] in 1942 stated that the average duration of life was 36 hours. Many of the patients reported were stillborn, others were premature and lived only a few hours. In these series, the longest duration of life was eight days. In the total series, the extent of life was reported in over 100 cases. Seventy patients were stillborn or lived a few hours or days, 17 patients lived some months and only 16 lived
Surgical attempts to correct the thoracic and thoraco-abdominal types of ectopic heart have been entirely unsuccessful. Nevertheless, the abdominal type may be compatible with long life. The poor prognosis is related to the severity of the intracardiac defects. The surgical problems include the following: the type of extrathoracic heart, the smallness of the chest cavity; kinking of the great vessels and fatal compromise of cardiac function; and the absence of normal skin above the heart. In these latter cases, the heart is only covered by serous pericardium. In the combined abdomino-thoracic cases, the heart is usually better covered by the body wall, having a covering of skin or membrane
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If the mediastinum offers too little space for the heart, the left pleural cavity may be utilised. A left lower lobectomy may then be considered. Koop (personal communication) suggested detaching the anterior diaphragm from the thorax and attaching it to the abdominal wall. Others [14] have used pericardial and diaphragmatic remnants. Some ribs can also be removed. Angulation of the great vessels can be minimised if they are dissected as free as possible. For covering the heart, the skin of the baby can be extensively mobilized without producing cardiac compression. If this is not possible, some synthetic cover can be used. The treatment of the omphalocele and abdominal wall defect varies according to their extent and content. A major unruptured omphalocele containing a large proportion of liver and intestine can be treated nonoperatively [15]. The sack can be painted with 2% solution of mercurochrome until the formation of a solid scar. This permits deferment of definitive surgical repair until complete epithelization of the sack (6-9 months). In infants in whom the contents of the omphalocele can be completely reduced into the abdominal cavity without producing respiratory difficulties, total surgical reconstruction of the defect can be carried out in the neonatal period. Alternatively a large omphalocele can be managed using prosthetic material which is removed in stages. Repair of the cardiac lesions must be judged in individual cases, since the diagnosis in the neonates is often difficult. Nevertheless, a ventricular diverticulum should be amenable to immediate surgery. A successful repair was reported 40 years ago along with repair of the defect in the abdominal wall and diaphragm. The risk of spontaneous rupture of the diverticulum is one of major reasons for recommending surgical excision even in the presence of additional intracardiac anomalies. Symbas and Ware [17] reported a case which was repaired in one stage with the use of cardiopulmonary bypass. The diverticulum was excised. With the exception of an omphalocele, which should be corrected as soon as possible, the extracardiac defects are essentially of cosmetic importance and have not been the cause of serious functional complications. Nonetheless, the mortal-
ity rate of infants operated upon below the age of one year has been alarmingly high. With the progress of echocardiography and angiographic studies, along with surgical progress in recent years, the surgical prognosis is now much better. In conclusion, a review of the literature, along with our own experience, leads us to advise the following for infants with extrathoracic heart. When the diagnosis has been made by fetal echocardiography, two possibilities should be considered with the parents participating actively in the decision: interruption of pregnancy or attempted heroic surgical repair. Delivery by cesarean section should be avoided, and, when delivered, the neonate should be referred promptly to a trained pediatric cardiosurgical team. The following program could be proposed. First: temporary coverage of the heart with a silastic prosthesis or skin flaps. Secondly: complete diagnosis of the intracardiac defect. Thirdly: whenever possible, the decision to operate should be taken according to the findings.
References Abbott FC. Congenital abnormality of sternum and diaphragm; protrusion of the heart in the epigastric region. Tram Path01 Sot London 1898;69:57-59. Byron F. Ectopia cordis: report of a case with attempted operative correction. J Thorac Surg 1949;17:717-722. Haller JA, Cantrell JR. Diagnosis and surgical correction of combined congenital defect of supra umbilical abdominal wall, lower sternum and diaphragm. J Thorac Cardiovasc Surg 1966;51:286-291. Rashkind WJ. Congenital heart disease. Benchmark Papers in Human Physiology. 1982;16:91-94. Weese C. De cordis ectopia. Inaugural Dissertation. Berlin: J.F. Stark, 1919. Todd RB. Abnormal condition of heart. In: The encyclopaedia of anatomy and physiology. London, 1936;630-639. Roth F. Motphologie und Pathogenese der Ectopia cordis congenita. Frankf Z Path01 1939;53:60-99. Cantrell JR, Haller JA, Ravitch MMA. Syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynec Obstet 1984;107:602-614. Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart. A case report and review of the syndrome. Pediatrics 1972;50:778-786.
228 10 Kellett CE. Ectopia cordis. Cum stemi fissura. Arch Dis Childhood 1936;11:205-214. 11 Blatt ML, Zeldes M. Ectopia cordis: report of a case and review of the literature. Am J Dis Child 1942;63:515-529. 12 Anderson RH, Macartney FJ, Sbineboume EA, Tynan M. Paediatric cardiology. Edinburgh: Churchill Livingstone, 1987;1057-1059. 13 Fermont L, De Getter B, Aubry MC, Kachaner J, Sidi D. A close collaboration between obstetricians and pediatric cardiologists allows antenatal detection of severe cardiac malformations by two-dimensional echocardiography. Pediatr Cardiol1985;34-37.
14 Scott GW. Ectopia cordis. Report of a case successfully treated by operation. Guy’s Hosp Rep 1955;104:55-66. 15 Eraklis AJ, Trump DS, Longino LA. Omphalocele with diaphragmatic and pericardial defects: diagnosis and repair. J Pediatr Surg 1967;2:354-363. 16 Ravitch MM. In: Pediatric surgery. Chicago: Year book Publishers, 1962;227-247. 17 Symbas PN, Ware RE. A syndrome of defects of the thoraco-abdominal wall, diaphragm, pericardium and heart. One stage surgical repair and analysis of the syndrome. J Thorac Cardiovasc Surg 1973;65:914-919.