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KEY POINTS
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Key Points

  • Pentalogy of Cantrell is defined by the association of five anomalies: (1) epigastric abdominal wall defect, (2) lower sternal defect, (3) defect in the anterior diaphragm, (4) defect in the epicardium, and (5) intracardiac defects.

  • Can be associated with other midline ventral defects such as cleft lip and palate, exencephaly, and sirenomelia.

  • Rare association thought to occur in only 1 in 65,000 to 200,000 births.

  • Most common intracardiac defects include VSD, ASD, pulmonic stenosis, tetralogy of Fallot, and LV diverticulum.

  • All the defects are amendable to repair yet outcomes in this condition have been generally poor.

  • An X-linked pattern of inheritance has been suggested for ventral midline defects including pentalogy of Cantrell.

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CONDITION
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Pentalogy of Cantrell is an unusual form of abdominal wall defect that consists of five associated anomalies, including: (1) midline epigastric abdominal wall defect, (2) defect of the lower sternum, (3) deficiency of the anterior diaphragm, (4) defect in the diaphragmatic pericardium, and (5) intracardiac defects. This constellation of anomalies was first described by Cantrell et al. (1958), hence, the term pentalogy of Cantrell, although it has also been referred to as the Cantrell–Haller–Ravitch syndrome and peritoneal pericardial diaphragmatic hernia. Not every case will have all five factors and some cases may have associated anomalies, usually midline defects also such as cleft lip or palate, sirenomelia, exencephaly (Carmi and Boughman, 1992; Egan et al., 1993; Polat et al., 2005). Toyama suggested a classification scheme for pentalogy of Cantrell in which Class 1 included those cases in which the diagnosis was definite and all five defects were present. In Class 2, the diagnosis was probable with the presence of four defects including the pressure of intracardiac and ventral abdominal wall defects. In Class 3, there was incomplete expression and various combinations of defects including a sternal abnormality (Toyama, 1972). Although pentalogy of Cantrell has been used interchangeably with ectopia cordis, in their original description Cantrell et al. (1958) were careful to distinguish between these two anomalies (see Chapter 59).

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Cantrell suggested that the defects in this syndrome fell into two groups by mechanism of embryologic development. In the first group, a developmental failure of mesoderm results in diaphragmatic, pericardial, and intracardiac defects. The diaphragmatic defect is a failure of the transverse septum to develop. The pericardial defect arises from the somatic mesoderm immediately adjacent to the region of the same layer from which the transverse septum develops. Defective development of one but not the other of these structures is possible only with highly specific loss of somatic mesoderm. This is rarely seen in pentalogy of Cantrell in which the diaphragmatic and pericardial defects occur together in most patients. The intracardiac lesions result from abnormal development of the epimyocardium, which is derived from the splanchnic mesoderm. While the resulting intracardiac defects vary, almost all include defects of the cardiac septa.

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