Pentalogy of Cantrell associated with hypoplastic left heart syndrome and herniation of the ventricular mass into the abdominal cavity
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Division of Cardiac Surgery, Medical College of Georgia, 1120 15th St., BA-4300, Augusta, Georgia 30912-4040, USA
Abstract
Objective: A term female with the diagnosis pentalogy of Cantrell associated with hypoplastic left heart syndrome was born without complication. A significant portion of the sternal body was hypoplastic. The right ventricle was found to be herniated into the abdominal cavity. Method: The patient underwent an uncomplicated repair of an omphalocele. The infant then underwent an uncomplicated modified Norwood procedure. The right ventricular mass was reduced into the thoracic cavity prior to the Norwood. Results: Because of inability to close the anterior chest wall, a skin allograft was employed to cover the heart. The child died of fungal sepsis at 3 months of life. Conclusions: Repair of these complex constellation of defects, although successful technically, should take into account long-term morbidity that precludes a positive outcome.
Key Words: Allograft; Congenital heart disease; Hypoplastic left heart syndrome; Norwood; Sternum
1. Introduction
Pentalogy of Cantrell was initially described by Cantrell in 1958 [1]. The syndrome consists of (1) a defect in the lower sternum, (2) a supraumbilical abdominal wall defect, (3) a deficiency of the anterior portion of the diaphragm, (4) a deficiency in the diaphragmatic portion of the pericardium, and (5) a congenital heart defect. The cardiac defect most often involves a ventricular septal defect, an atrial septal defect, double outlet right ventricle, tetralogy of fallot, or a left ventricular diverticulum [2]. Most cases are sporadic, although there has been an association with an X-linked inherited mutation [3]. Survival rate for patients with pentalogy of Cantrell is low, with the outcome dependent on the complexity of the cardiac defect.
2. Materials and methods
The patient for presentation is a 2.8-kg black female. She had a known in utero diagnosis of hypoplastic left heart syndrome (HLHS) and an uncharacterized midline abdominal wall defect. At birth, the patient was stabilized on a prostaglandin infusion and electively intubated. Physical examination revealed severe hypoplasia of the distal sternal body and xiphoid. There was an omphalocele with reducible abdominal contents. ECHO evaluation confirmed the diagnosis of HLHS.
The patient was initially taken to the operating room on the 5th day of life for repair of the abdominal wall defect. During exploration, the ventricular mass was found herniated through a deficiency in the diaphragm (Fig. 1). The omphalocele was repaired primarily, making no attempt at reducing the heart. The infant made an uneventful recovery.
The infant was taken to the operating room on the 11th day of life and underwent a Mee modification of the Norwood procedure. During initial exploration, a large portion of the right ventricle was found to be herniated through a moderate-sized defect in the diaphragm. The heart was easily reduced without hemodynamic compromise. The infant was weaned from cardiopulmonary bypass without complication. Because of vertical orientation of the right ventricle, the sternum was stented open and covered with a silastic membrane.
3. Results
The post-operative course was uncomplicated. The patient was taken to the operating room four times over the ensuing ten days for wash out and attempted closure of the sternum. Each attempt to reduce the heart into the pericardial cavity was met with severe hemodynamic instability, requiring immediate reopening. Several unsuccessful attempts were made to reconstruct the hypoplastic anterior chest wall. Because of the inability to reduce the heart into the pericardial cavity, a skin allograft (AllodermTM) was used to close the defect. Over the next 2 and half months, the patient was periodically taken to the operating room for reduction of the skin patch (Fig. 2). Approximately 1 cm was taken from the skin allograft edge at each procedure. Unfortunately, the patient expired from a fungal sepsis three months following the Norwood.
4. Discussion
Pentalogy of Cantrell is a rare anomaly occurring in approximately five in one million live births [4]. Because the heart was covered by only skin, without bony protection, this individual is not a true ectopia cordis. The anomaly consists of a constellation of defects that partially result from a failure of the midline mesodermal components to mature. The thoracoabdominal variant general results in varying degrees of herniation of the ventricular mass into the abdominal cavity. The association of HLHS with pentalogy of Cantrell and ventricular herniation has not to our knowledge been reported.
Following the reduction of the ventricular mass into the thoracic cavity, a modified Norwood procedure was undertaken without complication. At the completion of the procedure, the right ventricular apex was oriented in a near vertical position with the majority of the ventricular mass sitting anterior to the plane of the sternal edge. The cardiac orientation in combination with the distal sternal hypoplasia and the severe hypoplasia of the pericardial cavity prevented primary closure of the sternal defect.
A number of procedures to close congenital sternal defects have been advocated in the literature [5,6]. De Campos et al. described the creation of a posterior sternal wall with periosteal flaps from the native sternal bars. The procedure entails incising the periosteum of each sternal bar on its lateral border and elevating it from its anterior and medial surfaces. Both flaps are then turned upside down and sutured together in the midline [7]. Because of hypoplasia of the distal sternal bars and inability to reorient the heart, such a repair was not possible in our patient. Several unsuccessful attempts were made to close the defect by extensive mobilization skin and pectoral flaps. In an attempt to increase the pericardial capacity, the left pleura was opened widely and the lung mobilized. This maneuver also failed due to hemodynamic instability. Because of the inability to primary close the sternal defect, a skin allograft (AllodermTM) was used to create a tension free closure of the sternal defect. This provided mechanical protection plus a greater degree of resistance to infection than the silastic closure. A reduction of 50% in the patch diameter was accomplished over a two-month period. The goal was to gradually reduce the heart into the thoracic cavity and approximate the sternal edges. Unfortunately, the patient experienced a fungal sepsis likely related to prolonged intra-venous access.
In conclusion, this report describes the rare combination of severe hypoplasia of the sternum with herniation of a single ventricle into the abdomen. Reduction of the heart and correction of the cardiac defect was without complication. The lack of a sternal body, hypoplasia of the pericardial cavity, and new orientation of the ventricular mass never allowed adequate closure of the sternal defect.
References
Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet 1958; 107:602–604.
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; 50:778–791.
Carmi R, Parvari R, Weinstein J. Mapping of an X-linked gene for ventral midline defects (the TAS gene). Am J Hum Genet 1993;SupplA984.
Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet 1992; 42:90–95.
Sabiston DC. The surgical management of congenital bifid sternum with partial ectopic cordis. J Thorac Surg 1958; 35:118–122.
Synder BJ, Robbins RC, Ramos D. Primary repair of complete sternal cleft with pectorals major muscle flaps. Ann Thorac Surg 1996; 61:983–984.
De Campos JR, Filomeno LT, Fernandez A, Ruiz RL, Minamoto H, Werebe EC, Jatene FB. Repair of congenital sternal cleft in infants and adolescents. Ann Thorac Surg 1998; 66:1151–1154.(James D. St. Louis)
Abstract
Objective: A term female with the diagnosis pentalogy of Cantrell associated with hypoplastic left heart syndrome was born without complication. A significant portion of the sternal body was hypoplastic. The right ventricle was found to be herniated into the abdominal cavity. Method: The patient underwent an uncomplicated repair of an omphalocele. The infant then underwent an uncomplicated modified Norwood procedure. The right ventricular mass was reduced into the thoracic cavity prior to the Norwood. Results: Because of inability to close the anterior chest wall, a skin allograft was employed to cover the heart. The child died of fungal sepsis at 3 months of life. Conclusions: Repair of these complex constellation of defects, although successful technically, should take into account long-term morbidity that precludes a positive outcome.
Key Words: Allograft; Congenital heart disease; Hypoplastic left heart syndrome; Norwood; Sternum
1. Introduction
Pentalogy of Cantrell was initially described by Cantrell in 1958 [1]. The syndrome consists of (1) a defect in the lower sternum, (2) a supraumbilical abdominal wall defect, (3) a deficiency of the anterior portion of the diaphragm, (4) a deficiency in the diaphragmatic portion of the pericardium, and (5) a congenital heart defect. The cardiac defect most often involves a ventricular septal defect, an atrial septal defect, double outlet right ventricle, tetralogy of fallot, or a left ventricular diverticulum [2]. Most cases are sporadic, although there has been an association with an X-linked inherited mutation [3]. Survival rate for patients with pentalogy of Cantrell is low, with the outcome dependent on the complexity of the cardiac defect.
2. Materials and methods
The patient for presentation is a 2.8-kg black female. She had a known in utero diagnosis of hypoplastic left heart syndrome (HLHS) and an uncharacterized midline abdominal wall defect. At birth, the patient was stabilized on a prostaglandin infusion and electively intubated. Physical examination revealed severe hypoplasia of the distal sternal body and xiphoid. There was an omphalocele with reducible abdominal contents. ECHO evaluation confirmed the diagnosis of HLHS.
The patient was initially taken to the operating room on the 5th day of life for repair of the abdominal wall defect. During exploration, the ventricular mass was found herniated through a deficiency in the diaphragm (Fig. 1). The omphalocele was repaired primarily, making no attempt at reducing the heart. The infant made an uneventful recovery.
The infant was taken to the operating room on the 11th day of life and underwent a Mee modification of the Norwood procedure. During initial exploration, a large portion of the right ventricle was found to be herniated through a moderate-sized defect in the diaphragm. The heart was easily reduced without hemodynamic compromise. The infant was weaned from cardiopulmonary bypass without complication. Because of vertical orientation of the right ventricle, the sternum was stented open and covered with a silastic membrane.
3. Results
The post-operative course was uncomplicated. The patient was taken to the operating room four times over the ensuing ten days for wash out and attempted closure of the sternum. Each attempt to reduce the heart into the pericardial cavity was met with severe hemodynamic instability, requiring immediate reopening. Several unsuccessful attempts were made to reconstruct the hypoplastic anterior chest wall. Because of the inability to reduce the heart into the pericardial cavity, a skin allograft (AllodermTM) was used to close the defect. Over the next 2 and half months, the patient was periodically taken to the operating room for reduction of the skin patch (Fig. 2). Approximately 1 cm was taken from the skin allograft edge at each procedure. Unfortunately, the patient expired from a fungal sepsis three months following the Norwood.
4. Discussion
Pentalogy of Cantrell is a rare anomaly occurring in approximately five in one million live births [4]. Because the heart was covered by only skin, without bony protection, this individual is not a true ectopia cordis. The anomaly consists of a constellation of defects that partially result from a failure of the midline mesodermal components to mature. The thoracoabdominal variant general results in varying degrees of herniation of the ventricular mass into the abdominal cavity. The association of HLHS with pentalogy of Cantrell and ventricular herniation has not to our knowledge been reported.
Following the reduction of the ventricular mass into the thoracic cavity, a modified Norwood procedure was undertaken without complication. At the completion of the procedure, the right ventricular apex was oriented in a near vertical position with the majority of the ventricular mass sitting anterior to the plane of the sternal edge. The cardiac orientation in combination with the distal sternal hypoplasia and the severe hypoplasia of the pericardial cavity prevented primary closure of the sternal defect.
A number of procedures to close congenital sternal defects have been advocated in the literature [5,6]. De Campos et al. described the creation of a posterior sternal wall with periosteal flaps from the native sternal bars. The procedure entails incising the periosteum of each sternal bar on its lateral border and elevating it from its anterior and medial surfaces. Both flaps are then turned upside down and sutured together in the midline [7]. Because of hypoplasia of the distal sternal bars and inability to reorient the heart, such a repair was not possible in our patient. Several unsuccessful attempts were made to close the defect by extensive mobilization skin and pectoral flaps. In an attempt to increase the pericardial capacity, the left pleura was opened widely and the lung mobilized. This maneuver also failed due to hemodynamic instability. Because of the inability to primary close the sternal defect, a skin allograft (AllodermTM) was used to create a tension free closure of the sternal defect. This provided mechanical protection plus a greater degree of resistance to infection than the silastic closure. A reduction of 50% in the patch diameter was accomplished over a two-month period. The goal was to gradually reduce the heart into the thoracic cavity and approximate the sternal edges. Unfortunately, the patient experienced a fungal sepsis likely related to prolonged intra-venous access.
In conclusion, this report describes the rare combination of severe hypoplasia of the sternum with herniation of a single ventricle into the abdomen. Reduction of the heart and correction of the cardiac defect was without complication. The lack of a sternal body, hypoplasia of the pericardial cavity, and new orientation of the ventricular mass never allowed adequate closure of the sternal defect.
References
Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet 1958; 107:602–604.
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; 50:778–791.
Carmi R, Parvari R, Weinstein J. Mapping of an X-linked gene for ventral midline defects (the TAS gene). Am J Hum Genet 1993;SupplA984.
Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet 1992; 42:90–95.
Sabiston DC. The surgical management of congenital bifid sternum with partial ectopic cordis. J Thorac Surg 1958; 35:118–122.
Synder BJ, Robbins RC, Ramos D. Primary repair of complete sternal cleft with pectorals major muscle flaps. Ann Thorac Surg 1996; 61:983–984.
De Campos JR, Filomeno LT, Fernandez A, Ruiz RL, Minamoto H, Werebe EC, Jatene FB. Repair of congenital sternal cleft in infants and adolescents. Ann Thorac Surg 1998; 66:1151–1154.(James D. St. Louis)