Pentalogy of Cantrell
Pentalogy of Cantrell is an association of cleft sternum, diaphragmatic hernia, midline abdominal wall defect, ectopia cordis, and cardiac defects.
Incidence: Unknown.
Sonographic findings:
- The heart is located outside the body due to a defect in the chest or abdominal walls. Fig 1, Fig 2, Fig 3, Fig 4
- Omphalocele, typically high or supraumbilical. Fig 5
- Diaphragmatic hernia. Fig 6
- Cardiac abnormalities. Fig 5
- Pericardial or pleural effusion associated with an omphalocele is often suggestive of diaphragmatic hernia, an important clue to pentalogy of Cantrell.
- Usually first diagnosable in late first trimester.
- The additional information gained by complementary three-dimensional ultrasound can be useful for more efficient counseling and postnatal planning.
Fig 1: Ectopia cordis Sagittal scan at 9 gestational weeks: the heart (arrowhead) protruding outside of the chest
Fig 2: Ectopia cordis Sagittal scan at 13 gestational weeks: the heart (arrowhead) protruding outside of the chest with omphalocele (arrow)
Fig 3: Ectopia cordis Cross-sectional scan of the free floating heart with pulsation at the four-chamber view
Fig 4: Ectopia cordis Cross-sectional scan of the chest: the pulsating heart partially protruding outside of the chest (arrowhead) (* = chest)
Fig 5: Ectopia cordis (Pentalogy of Cantrell) Cross-sectional scan of the chest: the heart (arrowhead) partially protruding outside, with omphalocele containing bowel and liver (arrow); note parallel great arteries (*) with transposition
Fig 6: Ectopia cordis (Pentalogy of Cantrell) Cross-sectional scan of the chest: the heart (solid circle) partially protruding outside; note parallel great arteries (*) with transposition (arrowhead = spine)
Video clips of fetal cardiac arrhythmias
Pentalogy of Cantrell : Cross-sectional scan of lower chest: liver (arrowhead) and heart (arrow) located outside
Ectopia Cordis : Ectopia cordis: the heart outside the chest; note the overriding aorta
Ectopia Cordis : Ectopia cordis: sagittal scan of the fetal trunk showing the heart pulsating outside the chest
Associations: Genital defects in both conditions; renal, skeletal, neural tube, intestinal, cardiovascular and omphaloceles defects in cloacal exstrophy.
Management: Termination of pregnancy can be offered.
Prognosis: Fatal, though some cases may survive with full surgical repair, with excellent prognosis for cleft sternum alone.
Recurrence risk: Sporadic (rare recurrence).