Children's Hospital Colorado

Pentalogy of Cantrell

Pentalogy of Cantrell is an unusual form of abdominal wall defect that consists of five (penta in ancient Greek) associated anomalies. Because this condition can drastically affect development, the Colorado Fetal Care Center is here to offer families support from our highly experienced team. With many years treating pentalogy of Cantrell and thanks to our state-of-the-art center, we provide some of the best outcomes for babies diagnosed with this condition.

For patients

Pentalogy of Cantrell is a rare and severe abdominal wall defect that consists of five abnormalities:

  • Midline abdominal wall defect, covered by a thin membrane 
  • Defect of the lower sternum
  • Deficiency of the anterior diaphragm
  • Defect in the diaphragmatic pericardium, where the heart meets the diaphragm
  • Various heart defects 

Not every case has all five factors, with the majority featuring just a few. Some babies born with the condition also have associated anomalies, like cleft lip or cleft palate.

In pentalogy of Cantrell, the heart is oriented more vertically in the chest and there usually are sometimes, but not always, defects within the heart (referred to as intracardiac anomalies). The most common defect is a hole in the wall between the two lower chambers of the heart (referred to as the ventricles) that is called a ventricular septal defect. The hands and spine are also commonly abnormal in this condition. If there is a particular defect in the abdominal wall called an omphalocele, then your doctor or the team at the Colorado Fetal Care Center likely will recommend genetic studies to help determine the cause of this condition.

What causes pentalogy of Cantrell?

Pentalogy of Cantrell is thought to occur randomly, although African Americans and males may be more likely to develop pentalogy of Cantrell. The condition is thought to occur between 1 in every 65,000 births or as low as 1 in every 200,000 births.

In some cases, there might be a genetic component. A genetic cause means the baby's chromosomes (considered to be the baby's "blueprint") are abnormal. Whatever the underlying cause, the result is that certain key steps in the first few weeks of conception did not occur normally. It is important to understand that the mother did nothing to cause this condition.

Pentalogy of Cantrell is usually detected from a routine prenatal ultrasound after about 12 weeks. If not discovered during pregnancy, it's visible as soon as the baby is born.

How will my pregnancy be managed after a pentalogy of Cantrell diagnosis?

Once diagnosed, genetic testing may be offered to help determine the cause of pentalogy of Cantrell, though most cases are thought to occur randomly. After a decision has been reached to continue the pregnancy, it is recommended that a high-risk pregnancy specialist, known as a maternal-fetal medicine (MFM) physician, manage the pregnancy along with other members of the fetal care team.

Sometimes, babies with pentalogy of Cantrell don't grow enough inside the uterus. If the growth environment is very poor, an early delivery (possibly several weeks early) may be recommended. Also, there is a risk of preterm labor and delivery, which is why our team will want to monitor you closely throughout the remainder of your pregnancy.

Scheduling your delivery at the Colorado Fetal Care Center also ensures access to our pediatric cardiologists, congenital heart surgeons and pediatric surgeons who can provide immediate postnatal care. The type of delivery is not affected by the diagnosis of pentalogy of Cantrell, which means you can deliver vaginally if there are no other obstetrical concerns.

At this time, there are no fetal interventions for pentalogy of Cantrell, which means all treatment will have to wait until your child is delivered at our state-of-the-art facility.

What is the prognosis for babies with pentalogy of Cantrell?

The outcome for infants born with this condition depends on the severity of their defects. Babies with smaller portions of their internal organs exposed and less severe cardiac defects have a 35 percent survival rate.

For healthcare professionals

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 or 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 presence 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.

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.

The second group of defects results from failure of the ventral migration of the periprimordial structures and includes the sternal defect and the epigastric omphalocele. All elements of the sternum are present and the costocartilages connect with the cartilaginous plates, which represent the paired sternal anlagen with variable degrees of fusion. The sternal defect results not from an absence of sternal primordia but from the failure of paired sternal anlagen to complete migration. A similar failure of migration results in the abdominal wall defect. The normal layers of the ventral abdominal wall are present but there is a lack of ventral migration of the myotomes. These patients have structurally normal rectus abdominus muscles that correctly attach to the pubic symphysis but deviate laterally as they run cephalad to insert into the costal margins at the midclavicular line. This lack of migration is thought to be due to a defective development of the paramedian mesoderm.

The heart in pentalogy of Cantrell is normally positioned within the chest. In contrast, ectopia cordis is characterized by abnormal position of the heart outside of the chest. This becomes confusing, as classification systems for ectopia cordis list three types: cervical, thoracic and thoracoabdominal. The latter is the same as pentalogy of Cantrell. Ectopia cordis may encompass partial or complete sternal defects and invariably includes intracardiac anomalies but does not include the pericardial, diaphragmatic and abdominal-wall defects seen in the pentalogy of Cantrell. Kanagusuntheram and Verzin (1962) suggested that ectopia cordis occurs as a result of excessive pericardial coelom formation and subsequent destruction of the transverse septum with rupture of the anterior body wall at 6 weeks of gestation (Kanagusuntheram and Verzin, 1962). Ravitch (1986) has suggested that the high frequency of major intrinsic cardiac defects with true ectopia cordis indicates that there is a primary defect in the splanchnic mesoderm responsible for cardiac development.

The primitive thoracic wall consists of somatopleura covering the ventral wall of the pericardial cavity. The ectodermal layer of the somatopleura forms the skin but the remainder of the components of the body wall derive from invading dorsal mesoderm during the 6th week of gestation. The sternum appears as two parallel condensations of mesenchyme, the lateral sternal bands. A median cranial condensation, the presternum, appears independently. The lateral sternal bands fuse with the presternum cranially and with the tips of the ribs laterally. During the 7th week, the sternal bands begin fusing at their cephalic end and proceed caudally and cease by the 9th or 10th week.

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