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Cantrell syndrome

Journal of Perinatology volume 30, pages 298–299 (2010)Cite this article

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This midline retrosternal defect in the septum transversum portion of the diaphragm is the characteristic and primary abnormality in Cantrell syndrome.1 Originally described in 1958, this congenital malformation syndrome characteristically consists of five (a pentology or pentad) defects. These defects are as follows: (1) a midline abdominal wall defect, (2) a caudal sternal defect, (3) an anterior retrosternal diaphragmatic defect, (4) a pericardial defect and (5) congenital heart disease.2 The cardiac malformation may include left ventricular diverticula and less commonly right ventricular diverticula, which extend into the anterior abdominal defect.3 Because of this cardiac defect, Cantrell syndrome is sometimes classified as a type of ectopic cordis, or abnormal cardiac position outside of the thoracic cavity.4, 5 Although this is perhaps the most dramatic abnormality in Cantrell syndrome, it is infrequently present.5

The sternal defects include most frequently a bifid sternum in 26%, an absent xiphoid in 10% and absent lower 2/3 of sternum in 9% of cases.3 The anterior abdominal wall defect in 63% of cases is an omphalocele, which is called epigastric (as in the case reported here) or supraumbilical, to emphasize its high position relative to the diaphragm and sternum. The next most common anterior abdominal wall defect seen in 13% of cases is diastasis of the rectus muscles.3 The diaphragmatic defect is usually a ventral retrosternal defect occurring in 91% of cases. Pericardial defects include absent pericardium in 75% and ventral-deficient pericardium in 22% of cases. The cardiac lesions include ventricular septal defect in 72%, atrial septal defect in 35%, left ventricular diverticulum in 32%, right ventricular diverticulum in 3%, left ventricular aneurysm in 2% and Tetralogy of Fallot in 20% of cases.

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References

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  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Cantrell syndrome. J Perinatol 30, 298–299 (2010). https://doi.org/10.1038/jp.2010.4

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