What Is The Pentalogy Of Cantrell?

Having a new baby is an exciting time for the whole family. If your new baby has been diagnosed with a medical condition, then it’s likely that you’ll be dealing with extra thoughts and emotions. 

Pentalogy of Cantrell is a condition involving defects in the chest and abdominal wall. It is present from birth, and severity can vary between affected babies.¹

If your baby has been diagnosed with Pentalogy of Cantrell, you will likely have many questions about what this means for them. This article will help you to develop an understanding of the causes, features, and treatment options for the condition, allowing you to make more informed choices for your family. 

Overview

Pentalogy of Cantrell (POC) is a rare congenital condition that is present from birth.¹ The condition involves five characteristic developmental abnormalities involving the chest and abdominal wall, which were first described by Dr James Cantrell in 1958.² Babies with POC have abnormalities of the heart, pericardium (the protective covering of the heart), diaphragm, sternum and abdominal wall.¹ The severity of the condition varies, and it can be described as partial (with defects in some of the above areas) or complete (with defects in all five areas).¹

The cause of the condition is not well understood, and most cases occur in families without a history of the condition.¹ Links to other genetic conditions such as trisomy 21 (Down’s syndrome), trisomy 18 (Edwards’ syndrome) and Turner syndrome have been suggested.² 

Babies with POC will usually require multiple surgical interventions to manage the consequences of the condition. Outcomes for affected babies tend to be linked to the overall severity of their case.¹

What are the characteristic features of the pentalogy of cantrell?

The five characteristic defects seen in babies with POC are:

1. Abdominal wall defects

Defects in the abdominal wall can result in a variety of presentations. Abdominal contents may be located outside the abdomen, covered by a protective layer called the peritoneum, due to a defect in the belly button area. This is called an omphalocele.³ Ectopia cordis occurs when the heart is found outside the thoracic cavity when the latter does not fuse correctly during embryonic development.⁴ 

2. Sternal defects

Babies with POC may have a sternum (breastbone) that has not formed correctly. The sternum may have a split or a hole in it (known as a cleft), may be shorter than is typical, or may be absent completely.¹ The original defect described by Dr Cantrell was a split (cleft) in the lower part of the sternum.¹

3. Defects of the diaphragm

Babies with POC may have a diaphragmatic hernia. This means that a hole is present in the diaphragm. Abdominal contents are usually prevented from entering the thoracic cavity by the presence of the diaphragm, so when a hole is present, contents can move upwards into the chest.¹

4. Defects in the pericardium 

The pericardium is a protective layer that covers the heart and the major blood vessels connected to it. The lower aspect of the pericardium is fused with the diaphragm, so babies with POC can have defects in this part of their pericardium.⁵ Abnormalities may be visible on imaging studies, or the presence of fluid within the layers of the pericardium may be detected on clinical examination.^{1, 2}

5. Cardiac defects

A range of cardiac defects are associated with POC. These include:

• Atrial-septal defects (ASDs) - the presence of a hole between the two upper chambers of the heart (the atria).⁶
• Ventricular-septal defects (VSDs) - the presence of a hole between the two lower chambers of the heart (the ventricles).⁷
• Dextrocardia: The heart is found on the right side of the thoracic cavity rather than on the left.⁸
• Pulmonary stenosis: The pulmonary valve helps to control the flow of blood from the heart to the lungs. In babies with pulmonary stenosis, the valve is thickened, which can partially disrupt the normal flow of blood.⁹
• Tetralogy of Fallot (TOF): TOF is a complex cardiac condition. These babies have a hole between the two lower chambers of the heart (a VSD), pulmonary stenosis, thickened heart muscle in the lower right chamber, and a displacement of the aorta (the vessel that carries blood to the body from the heart).¹⁰

Babies with defects in all five of the above areas are said to have complete POC. If defects are present in several but not all areas, then the POC is described as incomplete.¹

What causes pentalogy of cantrell?

POC arises due to abnormalities of embryonic development.² Genetic factors may increase the risk of POC, and there have been reports of cases in the babies of consanguineous couples (couples who are related in a way other than through marriage).¹¹ The condition has also been linked to other genetic conditions such as trisomy 21 (Down’s syndrome), trisomy 18 (Edwards’ syndrome), and Turner syndrome.¹

How is pentalogy of cantrell diagnosed? 

POC may be first diagnosed with an ultrasound scan and subsequent further imaging during pregnancy.² 

At birth, babies may present with obvious visible abnormalities such as omphalocele and ectopia cordis. Cardiac abnormalities may result in signs and symptoms such as cyanosis (a blue tinge to the skin) and breathlessness. A heart murmur may be detected, which would provide evidence as to the nature of the cardiac abnormality present in that case.¹

If a diagnosis is suspected after birth, imaging tests may be recommended if the child is well enough. A chest X-ray may show the presence of abdominal contents in the thoracic cavity if a diaphragmatic hernia is present. CT or MRI scanning can provide more detailed information on the different defects observed in a particular case. An ECHO can provide valuable information on the nature of cardiac involvement and help to plan for any corrective surgery.¹

How is the pentalogy of cantrell treated?

Treating POC is often a complex process involving a multidisciplinary team of involved professionals. Any treatment plan will be individualised to take the specifics of your baby’s case into account. 

Emergency measures

Babies with POC can appear very unwell when they are born, depending on the nature of the defects that they have. Your baby’s neonatal team will work to stabilise their condition and provide a protective covering for any organs that are present in the abdomen or thorax.² 

Planned surgical measures

Planned surgical measures may aim to correct cardiac defects, restore normal cardiac anatomy, and repair the other defects of the thorax and abdominal wall.² Babies who are very unwell when they are born may require a period of conservative management before they are strong enough to undergo complex surgery.² Repair surgery may take place in either one or several stages.² Speak to your baby’s operating team to learn more about which approach they recommend and about any associated risks. 

Supportive measures

Babies with POC often require intensive support both before and after surgery. Unfortunately, some babies will ultimately be too unwell for corrective surgery to be attempted. In these cases, palliative surgery (surgery to minimise pain and discomfort) may be carried out in conjunction with other palliative measures. This will ensure your baby is as comfortable as can be during their life.^{1, 2}

What is the outlook for babies with pentalogy of cantrell? 

The prognosis for babies with POC generally depends on the severity of the defects they are born with.¹ Babies with complete POC with significant ectopia cordia are unfortunately unlikely to survive surgical repair due to the complexity of their condition.² Better outcomes are associated with incomplete POC and later age at reparative surgery.²

Overall survival for babies with POC unfortunately remains fairly low at around 37%, and without surgical intervention, mean survival is around 36 hours.¹ However, with advancements in surgical techniques, survival rates have been observed to be improving over time.²

Learning that your baby has a life-limiting condition is a devastating time for families. If you have been through the pain of caring for a sick baby or losing a baby, then know that support is available. Speak to your baby’s healthcare team to find out what resources there are to support you. 

Summary

Pentalogy of Cantrell (POC) is a rare, complex medical condition that arises due to abnormalities of embryonic development. Babies with complete POC have abnormalities of their abdominal wall, sternum, diaphragm, pericardium and heart, whilst babies with incomplete POC will have defects in some of these areas. 

We do not fully understand what causes POC, with most cases occurring randomly in the population. 

POC may be diagnosed prenatally (before birth) using scans. This can allow parents time to prepare and make informed choices about the care of their foetus. At birth, babies often have obvious abnormalities such as omphalocele and may present with other signs and symptoms such as respiratory distress secondary to cardiac and other defects. 

Treatment will be individualised based on the precise defects in each case. Broadly, treatment will involve stabilisation, followed by palliative or corrective surgery. Overall survival rates are low at 37% but are increasing with improvements in surgical approaches. Better outcomes are associated with incomplete POC and older age at the time of surgery.