Piece them together

Case Contribution: 
Dr. Yashpal Rana
Consultant Radiologist
U N Mehta Institute of Cardiology and Research Centre, Ahmedabad, Gujarat

A 3-year-old female child was referred to radiology department at U. N. Mehta institute of cardiology and research centre, Ahmedabad, Gujarat for Cardiac CT study for detailed evaluation of the congenital heart disease after 2D echocardiography revealed diagnosis of double outlet of right ventricle (DORV).

What are your findings? What is the epicardial lesion that was seen on echocardiogram?

Answer

The CT shows DORV with D-malposed aorta, dilated right ventricle, severe infundibular pulmonary stenosis, severe stenoses in the left pulmonary artery, large atrial septal defect amounting to a common atrium, conoventricular ventricular septal defect and bilateral superior vena cavae. Also, there is a lower sternal defect, defect in the diaphragmatic pericardium and an anterior diaphragmatic defect through which there is herniation of the left ventricular apex forming a left ventricular apical diverticulum. The presented case has all defects consisted in the pentalogy of Cantrell except midline supraumbilical wall defect and ectopia cordis.

Figure 1: Volume rendered (A), Sagittal oblique multi-planar reconstruction (B) and Coronal oblique multi-planar reconstruction (C) of a contrast enhanced CT study showing the sternal defect (blue arrow) and left ventricular apical diverticulum (white arrow) herniating into abdomen between the right and left lobes of the liver through a pericardial and a diaphragmatic defect.

Figure 2: Oblique multi-planar reconstructions of a contrast CT study at the level of pulmonary arteries (A) showing discrete areas of severe stenosis in the proximal (orange arrow) and mid left pulmonary artery (white arrow). Oblique multi-planar reconstructions of a contrast CT study at the level of Double outlet right ventricle (DORV) with a ventricular septal defect (green arrow) is show in this figure as a part of intra-cardiac anomaly.

Discussion:

Cantrell Pentalogy is a rare congenital thoraco-abdominal disruption, first described by Cantrell et al with five characteristics:

  1. Lower sternal defect;
  2. Midline supraumbilical thoraco-abdominal wall defect;
  3. Anterior diaphragmatic defect;
  4. Defect of diaphragmatic part of pericardium that results in relation between pericardial cavity and peritoneum.
  5. Congenital heart malformations and ectopia cordis in extreme cases

Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, it is referred to as complete pentalogy of Cantrell. The most severe expression of pentalogy of Cantrell presents at birth with ectopia cordis and omphalocele. Additional associated anomalies include cleft lip/ palate, dysplasia of the kidneys, cystic hygroma, limb defects (club feet, absent bones in the arms or legs), neural tube defects (encephalocoele) and trisomy 13 or 18.

Final Diagnosis:

Pentalogy of Cantrell with DORV with D-malposed aorta, dilated right ventricle, severe infundibular pulmonary stenosis, severe stenoses in the left pulmonary artery, large atrial septal defect amounting to a common atrium, conoventricular ventricular septal defect and bilateral superior vena cavae

References:

  • Van Hoorn JH, Moonen RM, Huysentruyt CJ et-al. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur. J. Pediatr. 2007;167 (1): 29-35
  • Di Bernardo S, Sekarski N, Meijboom E. Left ventricular diverticulum in a neonate with Cantrell syndrome. Heart. 2004;90 (11): 1320
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