Pentalogy of Cantrell

Congenital defects of the supraumbilical abdominal wall leading to defect of the lower part of the sternum and involving the sternum, diaphragm, pericardium, and heart.

Thoraco Abdominal Syndrome; Cantrell-Haller-Ravitsch Syndrome; Cantrell Syndrome; Peritoneo Pericardial Diaphragmatic Hernia; Thoracoabdominal Ectopia Cordis.

Congenital disorder of midline fusion resulting in multiple congenital anomalies; the full pentalogy of Cantrell is thought to represent the extreme end of the spectrum of ventral midline anomalies.

Unknown. Pentalogy of Cantrell (sporadic mutation) estimated at 5.5:1 million live births.

X-linked (Xq25-q26.1), with dominant expression.

The existence of this syndrome is thought to support the theory of an X-linked midline developmental field. The defects are determined by 16 to 18 days in utero life, resulting from failed fusion of the mesoderm. This results in defects of diaphragm, heart, sternum, abdominal wall, and/or neural tube (encephalocele most commonly).

Prenatal ultrasonography, clinical presentation (mild forms only).

Ectopia cordis represents one end of the spectrum of anomalies, close examination of such patients often reveals further features of the pentalogy of Cantrell. Pentalogy of Cantrell is comprised of (1) midline supra-umbilical abdominal defect, (2) sternal fusion defects, (3) deficiency or absence of the diaphragmatic pericardium, (4) deficiency of the anterior diaphragm, and (5) congenital cardiac disease (atrial septal defect [ASD], ventricular septal defect [VSD], tetralogy of Fallot). Mildly hypoplastic lungs are a common finding. Additional malformations may include hydrocephalus, anencephaly, cleft lip/palate, cystic hygroma, transposition of the great vessels, patent ductus arteriosus, ventral hernia, omphalocele, renal agenesis, and hypospadias.

Anesthesia care will be influenced by the nature of the surgical intervention and the degree of organ dysfunctions. The potential for multiple organ abnormalities warrants a comprehensive evaluation of cardiovascular, respiratory, and renal function. Fully define abnormalities by clinical examination. Obtain a chest radiograph to assess the degree of lung hypoplasia and compression by intra-abdominal organs. Obtain an ECG and echocardiography to define cardiac abnormalities. Cardiac catheterization may be indicated in the early neonatal period. Laboratory investigations should include a cell blood count, electrolytes, and parameters of renal function (creatinine, blood urea nitrogen). Ensure adequate fluid resuscitation in the presence of large ventral hernias or omphalocele. Prolonged ventilation and organ support may be required postoperatively.

The cardiac anatomy and the presence of systemic to pulmonary shunts may dictate the anesthetic technique. These patients may have bronchopulmonary dysplasia secondary to prolonged neonatal ventilation. Careful positioning is needed to avoid pressure over the sternal defect (decreased cardiac output), or abdominal defect (compression of lungs leading to hypoxia). The threshold for invasive hemodynamic monitoring should be low. Large fluid losses are likely during the repair of ventral hernias, omphaloceles, and neural tube defects. Caudal analgesia has been used successfully for inguinal hernia repair in these patients and the place of subarachnoid anesthesia is open to debate.

Specific indications and contraindications are primarily determined by the underlying cardiac anomaly.