Cantrell’s pentalogy

Cantrell’s pentalogy, first described in 1958, consists of
a lower sternal defect, anterior diaphragmatic defect,
parietal pericardial defect, omphalocoele, and herniation
of the heart . Ectopia cordis describes the herniation
or extrusion of the heart, which may occur
through either the thorax or the thoracoabdominal
region. The hypothesis underlying this condition is
abnormal development of the mesoderm at a very
early stage in embryonic life, occurring prior to or
immediately after differentiation of the primitive intraembryonic
mesoderm into its splanchnic and somatic
layers, since derivatives of both these layers are involved.
To date, there have been no etiologic factors
elucidated for this lesion. At approximately the
10th week of embryological life, the midgut, which had
previously been extraabdominal, returns to the
abdominal cavity and undergoes rotation followed by
fixation. The final structure of the abdominal wall is
made up of five distinct body folds that fuse at the base
of the umbilical cord. Failure of growth and fusion of
the cephalic fold results in either isolated ectopia cordis
or the pentalogy of Cantrell or one of its variants.
In a report of 13 cases of ectopia cordis—4 thoracic
and 9 thoracoabdominal—10 infants survived to term.
There were 5 long-term survivors, each of whom
had significant cardiac diagnoses, including doubleoutlet
right ventricle in 2 patients, hypoplastic left
ventricle in association with conoventricular septal
defects in 2 patients, and tetralogy of Fallot with pulmonary
atresia in 1 patient. Interestingly, all survivors
had isolated ectopia cordis with no significant extrathoracic
Prenatal diagnosis of pentalogy of Cantrell is most
common using ultrasound and has been extensively reported.
Fetal MRI has been reported recently.


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