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
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
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 ...