Pentalogy of Cantrell: Causes, Diagnosis, Treatment and Prognosis

Pentalogy of Cantrell (POC) is a name given to a collection of five congenital midline birth anomalies that have posed a distinctive challenge for experts and surgeons.

The heart, pericardium, diaphragm, sternum, and abdominal wall are the five areas of possible defect. This condition could be divided into two categories, the complete or the partial POC.

Complete POC refers to the condition where all five defects are present, while others may be presented with only partial defects.

This can also be referred to as thoracoabdominal ectopia cordis, a condition where an Omphalocele-like membrane is the all covers the heart has.

Causes of Pentalogy of Cantrell (POC)

Reports suggest that genetic factors may play a huge role in the development of this defect.

It has also been seen in chromosomal abnormalities like trisomy 21, trisomy 18, and Turner syndrome but so far there hasn’t been any evidence to support this claim. Therefore the exact cause of the Pentalogy of Cantrell is unknown.

Symptoms of Pentalogy of Cantrell (POC)

1. Abdominal Wall Defects

The condition known as ectopia cordis is a situation where the heart is partially or completely placed out of the thoracic cavity thereby making it uncovered by the abdominal wall.

This condition is usually associated with the Pentalogy of Cantrell but isn’t always present. Another common presentation is Omphalocele, where contents within the abdominal wall are protruding through the ventral abdominal wall covered by a thin membrane.

Abdominal diastasis which is a wide separation of the abdominal muscles and gastroschisis which is a protrusion of the abdominal contents through the abdominal wall having no coverage are other important presentations though they occur less frequently.

2. Sternal Defects

This might occur with a complete absence of the xiphoid or with a complete absence of the sternum. Also with a sternum with a cleft or shorter than normal.

4. Diaphragmatic Defects

Diaphragmatic hernia is a condition where there is abdominal contents protrusion into the thoracic cavity through a hole in the diaphragm.

This can be presented clinically, on chest X-rays as bowel contents in the thoracic cavity. And the bowel sounds can also be heard during auscultation of the chest.

5. Pericardial Defects

In some cases, Pericardial effusion can be present, although relatively less severe and these defects in pericardium do not pose as an immediate threat to life. Also, it can be present with muffled heart sounds during cardiac auscultation.

6. Cardiac Defects

Atrial septal defects, dextrocardia, pulmonary stenosis, ventricle septal defects, tetralogy of Fallot, and left ventricular diverticulum are all associated with this disorder.

Some additional anomalies reported in some infants with Pentalogy of Cantrell include cleft lip, cleft palate, malformation (dysplasia) of the kidneys, a fluid-filled mass or sac in the head or neck area known as cystic hygroma, defects on the limb such as club feet, absent bones in the arms or legs and a birth defects of the brain and spinal cord known as neural tube defects.

Diagnosis of Pentalogy of Cantrell

The diagnosis of Pentalogy of Cantrell can be made prenatally (before birth) using a fetal ultrasound.

An ultrasound examination is done using high-frequency sound waves to produce an image of the developing fetus.

This fetal ultrasound can be used to detect some of the defects associated with Pentalogy of Cantrell.

To evaluate the extent of the involvement of the heart, echocardiography is usually performed. Echocardiography is done using sound waves to produce images of the heart

Also, Magnetic resonance imaging (MRI), which uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues may be performed to assess the degree of some anomalies including the abdominal wall and pericardial defects.

Treatment of Pentalogy of Cantrell

The treatment of the Pentalogy of Cantrell is based on the defect present and their extent, the specific symptoms that are apparent in each individual.

Surgical intervention for cardiac, diaphragmatic, and other associated defects is necessary.

Some types of reconstruction and repairs are described that can be single or multi-staged and require to be approached by an inter-professional team approach, especially in affected infants.

Treatment involves neonatal resuscitation to a temporary covering of contents protruding out of the ventral abdominal wall and, finally, surgical correction.

However, in some cases, the defects are so severe that the individual dies even after medical or surgical interventions.

The specific treatment approach will vary from one infant to another based on various factors, which include the size and type of abdominal wall defect, the specific cardiac anomalies present, or the particular type of ectopia cordis.

Surgical procedures may be required shortly after birth in the case of an Omphalocele.

operation immediately after birth provides separation of the peritoneal and pericardial cavities, coverage of the midline defect, and repair of the Omphalocele.

There may be an attempt to repair certain other defects including defects of the sternum, diaphragm, and pericardium.

Usually, by age 2 or 3, reconstruction of the lower sternum or epigastrium may be necessary. Initial conservative management may include prophylactic antibiotics and changing dressing daily in other to allow epithelialization of the Omphalocele sac.

Pentalogy of Cantrell prognosis

The prognosis of Pentalogy of Cantrell solely depends on the extent to which the defect occurred.

In other words, it depends on the severity of intra and extra cardiac defects, pulmonary hypoplasia, abdominal wall defect, cerebral anomalies, and diaphragmatic herniation. And the survival rate without surgery is low.

Egbujor Victor Chinedu
He Is Just A Pro Blogger Who Invests his time in Blogging and Web Designing ... Student, Writer...

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